Phenotypic Mutation 'gobble' (pdf version)
Allele | gobble |
Mutation Type |
critical splice donor site
(2 bp from exon)
|
Chromosome | 1 |
Coordinate | 34,204,236 bp (GRCm39) |
Base Change | T ⇒ C (forward strand) |
Gene |
Dst
|
Gene Name | dystonin |
Synonym(s) | bullous pemphigoid antigen 1, BPAG1-n, Macf2, bullous pemphigoid antigen 1, Bpag1, A830042E19Rik, 2310001O04Rik, athetoid, Bpag, BPAG1, nmf203, nmf339, ah |
Chromosomal Location |
33,947,306-34,347,742 bp (+) (GRCm39)
|
MGI Phenotype |
PHENOTYPE: Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan. [provided by MGI curators]
|
Accession Number | NCBI RefSeq: NM_001276764, NM_134448, NM_133833, NM_010081; MGI:104627
|
Mapped | Yes |
Amino Acid Change |
|
Institutional Source | Beutler Lab |
Gene Model |
predicted gene model for protein(s):
[ENSMUSP00000095392 †]
[ENSMUSP00000095393 †]
[ENSMUSP00000110756 †]
[ENSMUSP00000138308 †]
[ENSMUSP00000138376 †]
[ENSMUSP00000141127 †]
[ENSMUSP00000139888 †]
[ENSMUSP00000140560 †]
† probably from a misspliced transcript
|
AlphaFold |
no structure available at present |
PDB Structure |
Crystal Structure of a protease resistant fragment of the plakin domain of Bullous Pemphigoid Antigen1 (BPAG1) [X-RAY DIFFRACTION]
|
SMART Domains |
Protein: ENSMUSP00000095392 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
CH
|
37 |
136 |
1.62e-28 |
SMART |
CH
|
153 |
250 |
3.72e-19 |
SMART |
PDB:2ODU|A
|
261 |
479 |
1e-42 |
PDB |
low complexity region
|
520 |
545 |
N/A |
INTRINSIC |
SPEC
|
602 |
699 |
8.64e-9 |
SMART |
SPEC
|
702 |
802 |
2.94e-11 |
SMART |
Blast:SPEC
|
809 |
973 |
4e-73 |
BLAST |
coiled coil region
|
1095 |
1132 |
N/A |
INTRINSIC |
Blast:SPEC
|
1176 |
1285 |
6e-63 |
BLAST |
SPEC
|
1292 |
1421 |
4.11e0 |
SMART |
SPEC
|
1439 |
1538 |
4.66e0 |
SMART |
PLEC
|
1537 |
1581 |
9.05e-3 |
SMART |
PLEC
|
1582 |
1619 |
2.7e0 |
SMART |
PLEC
|
1657 |
1694 |
2.23e0 |
SMART |
PLEC
|
1695 |
1732 |
4.25e1 |
SMART |
PLEC
|
1735 |
1770 |
1.39e2 |
SMART |
PLEC
|
1771 |
1808 |
7.4e-8 |
SMART |
PLEC
|
1811 |
1846 |
5.8e-1 |
SMART |
PLEC
|
1847 |
1884 |
2.71e1 |
SMART |
PLEC
|
1886 |
1922 |
4.66e0 |
SMART |
low complexity region
|
2294 |
2307 |
N/A |
INTRINSIC |
low complexity region
|
2366 |
2381 |
N/A |
INTRINSIC |
low complexity region
|
2477 |
2491 |
N/A |
INTRINSIC |
low complexity region
|
2566 |
2593 |
N/A |
INTRINSIC |
low complexity region
|
2661 |
2675 |
N/A |
INTRINSIC |
low complexity region
|
2793 |
2799 |
N/A |
INTRINSIC |
low complexity region
|
2839 |
2847 |
N/A |
INTRINSIC |
low complexity region
|
3046 |
3057 |
N/A |
INTRINSIC |
low complexity region
|
3294 |
3314 |
N/A |
INTRINSIC |
SPEC
|
3321 |
3427 |
5.36e-1 |
SMART |
low complexity region
|
3515 |
3527 |
N/A |
INTRINSIC |
low complexity region
|
3548 |
3558 |
N/A |
INTRINSIC |
SPEC
|
3569 |
3678 |
2.19e-1 |
SMART |
internal_repeat_7
|
3771 |
3811 |
5.09e-5 |
PROSPERO |
SPEC
|
3852 |
3971 |
1.75e-9 |
SMART |
SPEC
|
3978 |
4084 |
3.7e-8 |
SMART |
SPEC
|
4091 |
4190 |
4.56e-8 |
SMART |
SPEC
|
4200 |
4299 |
3.78e0 |
SMART |
low complexity region
|
4372 |
4388 |
N/A |
INTRINSIC |
SPEC
|
4447 |
4552 |
1.98e-8 |
SMART |
SPEC
|
4559 |
4663 |
3.62e-11 |
SMART |
SPEC
|
4673 |
4773 |
1.65e-5 |
SMART |
SPEC
|
4780 |
4882 |
7.75e-11 |
SMART |
SPEC
|
4889 |
4989 |
2.3e-4 |
SMART |
SPEC
|
4999 |
5098 |
3.01e0 |
SMART |
SPEC
|
5105 |
5208 |
2.74e-2 |
SMART |
SPEC
|
5215 |
5319 |
2.46e-4 |
SMART |
SPEC
|
5326 |
5428 |
1.27e-15 |
SMART |
SPEC
|
5435 |
5537 |
1.54e-14 |
SMART |
SPEC
|
5544 |
5646 |
8.07e-2 |
SMART |
SPEC
|
5653 |
5755 |
3.67e-12 |
SMART |
SPEC
|
5762 |
5863 |
1.97e-12 |
SMART |
SPEC
|
5870 |
5976 |
4.19e-7 |
SMART |
SPEC
|
5983 |
6085 |
2.06e-15 |
SMART |
SPEC
|
6092 |
6195 |
2.89e-10 |
SMART |
SPEC
|
6202 |
6304 |
2.61e-26 |
SMART |
SPEC
|
6311 |
6413 |
5.31e-18 |
SMART |
SPEC
|
6420 |
6522 |
1.25e-14 |
SMART |
SPEC
|
6529 |
6632 |
9.1e-17 |
SMART |
SPEC
|
6639 |
6740 |
9.3e-23 |
SMART |
SPEC
|
6747 |
6849 |
5.43e-15 |
SMART |
SPEC
|
6859 |
6989 |
1.5e-8 |
SMART |
EFh
|
7023 |
7051 |
4.12e-3 |
SMART |
EFh
|
7059 |
7087 |
1.25e-2 |
SMART |
GAS2
|
7098 |
7176 |
3.08e-51 |
SMART |
low complexity region
|
7224 |
7242 |
N/A |
INTRINSIC |
low complexity region
|
7252 |
7264 |
N/A |
INTRINSIC |
low complexity region
|
7313 |
7336 |
N/A |
INTRINSIC |
PDB:3GJO|H
|
7364 |
7393 |
9e-10 |
PDB |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000095393 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
CH
|
37 |
136 |
1.62e-28 |
SMART |
CH
|
153 |
250 |
3.72e-19 |
SMART |
PDB:2ODU|A
|
261 |
479 |
6e-43 |
PDB |
low complexity region
|
520 |
545 |
N/A |
INTRINSIC |
SPEC
|
602 |
699 |
8.64e-9 |
SMART |
SPEC
|
702 |
802 |
2.94e-11 |
SMART |
Blast:SPEC
|
809 |
973 |
2e-73 |
BLAST |
coiled coil region
|
1095 |
1132 |
N/A |
INTRINSIC |
Blast:SPEC
|
1176 |
1285 |
2e-62 |
BLAST |
SPEC
|
1292 |
1421 |
4.11e0 |
SMART |
SPEC
|
1439 |
1538 |
4.66e0 |
SMART |
SPEC
|
1555 |
1664 |
2.19e-1 |
SMART |
internal_repeat_6
|
1757 |
1797 |
1.18e-5 |
PROSPERO |
SPEC
|
1838 |
1957 |
1.75e-9 |
SMART |
SPEC
|
1964 |
2070 |
3.7e-8 |
SMART |
SPEC
|
2077 |
2176 |
4.56e-8 |
SMART |
SPEC
|
2186 |
2285 |
3.78e0 |
SMART |
low complexity region
|
2358 |
2374 |
N/A |
INTRINSIC |
SPEC
|
2433 |
2538 |
1.98e-8 |
SMART |
SPEC
|
2545 |
2649 |
3.62e-11 |
SMART |
SPEC
|
2659 |
2759 |
1.65e-5 |
SMART |
SPEC
|
2766 |
2868 |
7.75e-11 |
SMART |
SPEC
|
2875 |
2975 |
2.3e-4 |
SMART |
SPEC
|
2985 |
3084 |
3.01e0 |
SMART |
SPEC
|
3091 |
3194 |
2.74e-2 |
SMART |
SPEC
|
3201 |
3305 |
2.46e-4 |
SMART |
SPEC
|
3312 |
3414 |
1.27e-15 |
SMART |
SPEC
|
3421 |
3523 |
1.54e-14 |
SMART |
SPEC
|
3530 |
3632 |
8.07e-2 |
SMART |
SPEC
|
3639 |
3741 |
3.67e-12 |
SMART |
SPEC
|
3748 |
3849 |
1.97e-12 |
SMART |
SPEC
|
3856 |
3962 |
4.19e-7 |
SMART |
SPEC
|
3969 |
4071 |
2.06e-15 |
SMART |
SPEC
|
4078 |
4181 |
2.89e-10 |
SMART |
SPEC
|
4188 |
4290 |
2.61e-26 |
SMART |
SPEC
|
4297 |
4399 |
5.31e-18 |
SMART |
SPEC
|
4406 |
4508 |
1.25e-14 |
SMART |
SPEC
|
4515 |
4618 |
9.1e-17 |
SMART |
SPEC
|
4625 |
4726 |
9.3e-23 |
SMART |
SPEC
|
4733 |
4835 |
5.43e-15 |
SMART |
SPEC
|
4845 |
4975 |
1.5e-8 |
SMART |
EFh
|
5009 |
5037 |
4.12e-3 |
SMART |
EFh
|
5045 |
5073 |
1.25e-2 |
SMART |
GAS2
|
5084 |
5162 |
3.08e-51 |
SMART |
low complexity region
|
5210 |
5228 |
N/A |
INTRINSIC |
low complexity region
|
5238 |
5250 |
N/A |
INTRINSIC |
low complexity region
|
5299 |
5322 |
N/A |
INTRINSIC |
PDB:3GJO|H
|
5350 |
5379 |
1e-9 |
PDB |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000110756 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
CH
|
37 |
136 |
1.62e-28 |
SMART |
CH
|
153 |
250 |
3.72e-19 |
SMART |
PDB:2ODU|A
|
261 |
479 |
1e-42 |
PDB |
low complexity region
|
520 |
545 |
N/A |
INTRINSIC |
SPEC
|
602 |
699 |
8.64e-9 |
SMART |
SPEC
|
702 |
802 |
2.94e-11 |
SMART |
Blast:SPEC
|
809 |
973 |
4e-73 |
BLAST |
coiled coil region
|
1095 |
1132 |
N/A |
INTRINSIC |
Blast:SPEC
|
1176 |
1285 |
6e-63 |
BLAST |
SPEC
|
1292 |
1421 |
4.11e0 |
SMART |
SPEC
|
1439 |
1538 |
4.66e0 |
SMART |
PLEC
|
1537 |
1581 |
9.05e-3 |
SMART |
PLEC
|
1582 |
1619 |
2.7e0 |
SMART |
PLEC
|
1657 |
1694 |
2.23e0 |
SMART |
PLEC
|
1695 |
1732 |
4.25e1 |
SMART |
PLEC
|
1735 |
1770 |
1.39e2 |
SMART |
PLEC
|
1771 |
1808 |
7.4e-8 |
SMART |
PLEC
|
1811 |
1846 |
5.8e-1 |
SMART |
PLEC
|
1847 |
1884 |
2.71e1 |
SMART |
PLEC
|
1886 |
1922 |
4.66e0 |
SMART |
low complexity region
|
2294 |
2307 |
N/A |
INTRINSIC |
low complexity region
|
2366 |
2381 |
N/A |
INTRINSIC |
low complexity region
|
2477 |
2491 |
N/A |
INTRINSIC |
low complexity region
|
2566 |
2593 |
N/A |
INTRINSIC |
low complexity region
|
2661 |
2675 |
N/A |
INTRINSIC |
low complexity region
|
2793 |
2799 |
N/A |
INTRINSIC |
low complexity region
|
2839 |
2847 |
N/A |
INTRINSIC |
low complexity region
|
3046 |
3057 |
N/A |
INTRINSIC |
low complexity region
|
3294 |
3314 |
N/A |
INTRINSIC |
SPEC
|
3321 |
3427 |
5.36e-1 |
SMART |
low complexity region
|
3515 |
3527 |
N/A |
INTRINSIC |
low complexity region
|
3548 |
3558 |
N/A |
INTRINSIC |
SPEC
|
3569 |
3678 |
2.19e-1 |
SMART |
internal_repeat_7
|
3771 |
3811 |
5.08e-5 |
PROSPERO |
SPEC
|
3852 |
3971 |
1.75e-9 |
SMART |
SPEC
|
3978 |
4084 |
3.7e-8 |
SMART |
SPEC
|
4091 |
4190 |
4.56e-8 |
SMART |
SPEC
|
4200 |
4299 |
3.78e0 |
SMART |
low complexity region
|
4372 |
4388 |
N/A |
INTRINSIC |
SPEC
|
4447 |
4552 |
1.98e-8 |
SMART |
SPEC
|
4559 |
4663 |
3.62e-11 |
SMART |
SPEC
|
4673 |
4773 |
1.65e-5 |
SMART |
SPEC
|
4780 |
4882 |
7.75e-11 |
SMART |
SPEC
|
4889 |
4989 |
2.3e-4 |
SMART |
SPEC
|
4999 |
5098 |
3.01e0 |
SMART |
SPEC
|
5105 |
5208 |
2.74e-2 |
SMART |
SPEC
|
5215 |
5319 |
2.46e-4 |
SMART |
SPEC
|
5326 |
5428 |
1.27e-15 |
SMART |
SPEC
|
5435 |
5537 |
1.54e-14 |
SMART |
SPEC
|
5544 |
5646 |
8.07e-2 |
SMART |
SPEC
|
5653 |
5755 |
3.67e-12 |
SMART |
SPEC
|
5762 |
5863 |
1.97e-12 |
SMART |
SPEC
|
5870 |
5976 |
4.19e-7 |
SMART |
SPEC
|
5983 |
6085 |
2.06e-15 |
SMART |
SPEC
|
6092 |
6195 |
2.89e-10 |
SMART |
SPEC
|
6202 |
6304 |
2.61e-26 |
SMART |
SPEC
|
6311 |
6413 |
5.31e-18 |
SMART |
SPEC
|
6420 |
6522 |
1.25e-14 |
SMART |
SPEC
|
6529 |
6632 |
9.1e-17 |
SMART |
SPEC
|
6639 |
6740 |
9.3e-23 |
SMART |
SPEC
|
6747 |
6849 |
5.43e-15 |
SMART |
SPEC
|
6859 |
6989 |
1.5e-8 |
SMART |
EFh
|
7023 |
7051 |
4.12e-3 |
SMART |
EFh
|
7059 |
7087 |
1.25e-2 |
SMART |
GAS2
|
7098 |
7176 |
3.85e-52 |
SMART |
low complexity region
|
7200 |
7218 |
N/A |
INTRINSIC |
low complexity region
|
7228 |
7240 |
N/A |
INTRINSIC |
low complexity region
|
7326 |
7349 |
N/A |
INTRINSIC |
PDB:3GJO|H
|
7377 |
7406 |
9e-10 |
PDB |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000138308 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
82 |
92 |
N/A |
INTRINSIC |
low complexity region
|
149 |
163 |
N/A |
INTRINSIC |
CH
|
215 |
314 |
1.62e-28 |
SMART |
CH
|
331 |
428 |
3.72e-19 |
SMART |
PDB:2ODU|A
|
439 |
657 |
1e-42 |
PDB |
low complexity region
|
698 |
723 |
N/A |
INTRINSIC |
SPEC
|
780 |
877 |
8.64e-9 |
SMART |
SPEC
|
880 |
980 |
2.94e-11 |
SMART |
Blast:SPEC
|
987 |
1151 |
5e-73 |
BLAST |
coiled coil region
|
1273 |
1310 |
N/A |
INTRINSIC |
Blast:SPEC
|
1354 |
1463 |
8e-63 |
BLAST |
SPEC
|
1470 |
1599 |
4.11e0 |
SMART |
SPEC
|
1617 |
1716 |
4.66e0 |
SMART |
PLEC
|
1715 |
1759 |
9.05e-3 |
SMART |
PLEC
|
1760 |
1797 |
2.7e0 |
SMART |
PLEC
|
1835 |
1872 |
2.23e0 |
SMART |
PLEC
|
1873 |
1910 |
4.25e1 |
SMART |
PLEC
|
1913 |
1948 |
1.39e2 |
SMART |
PLEC
|
1949 |
1986 |
7.4e-8 |
SMART |
PLEC
|
1989 |
2024 |
5.8e-1 |
SMART |
PLEC
|
2025 |
2062 |
2.71e1 |
SMART |
PLEC
|
2064 |
2100 |
4.66e0 |
SMART |
low complexity region
|
2472 |
2485 |
N/A |
INTRINSIC |
low complexity region
|
2544 |
2559 |
N/A |
INTRINSIC |
low complexity region
|
2655 |
2669 |
N/A |
INTRINSIC |
low complexity region
|
2744 |
2771 |
N/A |
INTRINSIC |
low complexity region
|
2839 |
2853 |
N/A |
INTRINSIC |
low complexity region
|
2971 |
2977 |
N/A |
INTRINSIC |
low complexity region
|
3017 |
3025 |
N/A |
INTRINSIC |
low complexity region
|
3224 |
3235 |
N/A |
INTRINSIC |
low complexity region
|
3472 |
3492 |
N/A |
INTRINSIC |
SPEC
|
3499 |
3605 |
5.36e-1 |
SMART |
low complexity region
|
3693 |
3705 |
N/A |
INTRINSIC |
low complexity region
|
3726 |
3736 |
N/A |
INTRINSIC |
SPEC
|
3747 |
3856 |
2.19e-1 |
SMART |
internal_repeat_12
|
3949 |
3989 |
5.99e-5 |
PROSPERO |
SPEC
|
4030 |
4149 |
1.75e-9 |
SMART |
SPEC
|
4156 |
4262 |
3.7e-8 |
SMART |
SPEC
|
4269 |
4368 |
4.56e-8 |
SMART |
SPEC
|
4378 |
4477 |
3.78e0 |
SMART |
low complexity region
|
4550 |
4566 |
N/A |
INTRINSIC |
SPEC
|
4625 |
4730 |
1.98e-8 |
SMART |
SPEC
|
4737 |
4841 |
3.62e-11 |
SMART |
SPEC
|
4851 |
4951 |
1.65e-5 |
SMART |
SPEC
|
4958 |
5060 |
7.75e-11 |
SMART |
SPEC
|
5067 |
5167 |
2.3e-4 |
SMART |
SPEC
|
5177 |
5276 |
3.01e0 |
SMART |
SPEC
|
5283 |
5386 |
2.74e-2 |
SMART |
SPEC
|
5393 |
5497 |
2.46e-4 |
SMART |
SPEC
|
5504 |
5606 |
1.27e-15 |
SMART |
SPEC
|
5613 |
5715 |
1.69e-11 |
SMART |
SPEC
|
5722 |
5824 |
9.33e-5 |
SMART |
SPEC
|
5831 |
5933 |
8.07e-2 |
SMART |
SPEC
|
5940 |
6042 |
3.67e-12 |
SMART |
SPEC
|
6049 |
6150 |
1.97e-12 |
SMART |
SPEC
|
6157 |
6263 |
4.19e-7 |
SMART |
SPEC
|
6270 |
6372 |
2.06e-15 |
SMART |
SPEC
|
6379 |
6482 |
2.89e-10 |
SMART |
SPEC
|
6489 |
6591 |
2.61e-26 |
SMART |
SPEC
|
6598 |
6700 |
5.31e-18 |
SMART |
SPEC
|
6707 |
6809 |
1.25e-14 |
SMART |
SPEC
|
6816 |
6919 |
9.1e-17 |
SMART |
SPEC
|
6926 |
7027 |
9.3e-23 |
SMART |
SPEC
|
7034 |
7136 |
5.43e-15 |
SMART |
SPEC
|
7146 |
7276 |
1.5e-8 |
SMART |
EFh
|
7310 |
7338 |
4.12e-3 |
SMART |
EFh
|
7346 |
7374 |
1.25e-2 |
SMART |
GAS2
|
7385 |
7463 |
3.08e-51 |
SMART |
low complexity region
|
7511 |
7529 |
N/A |
INTRINSIC |
low complexity region
|
7539 |
7551 |
N/A |
INTRINSIC |
low complexity region
|
7637 |
7660 |
N/A |
INTRINSIC |
PDB:3GJO|H
|
7688 |
7717 |
9e-10 |
PDB |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000138376 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
PDB:2ODU|A
|
2 |
95 |
4e-7 |
PDB |
low complexity region
|
136 |
161 |
N/A |
INTRINSIC |
SPEC
|
218 |
315 |
5.4e-11 |
SMART |
SPEC
|
318 |
418 |
1.8e-13 |
SMART |
Blast:SPEC
|
425 |
589 |
1e-73 |
BLAST |
coiled coil region
|
711 |
748 |
N/A |
INTRINSIC |
Blast:SPEC
|
792 |
901 |
4e-63 |
BLAST |
SPEC
|
908 |
1037 |
2.6e-2 |
SMART |
coiled coil region
|
1071 |
1805 |
N/A |
INTRINSIC |
PLEC
|
2061 |
2098 |
1.6e-6 |
SMART |
PLEC
|
2099 |
2136 |
4.4e-10 |
SMART |
PLEC
|
2137 |
2172 |
7.8e-5 |
SMART |
PLEC
|
2173 |
2210 |
6.8e-8 |
SMART |
PLEC
|
2252 |
2297 |
2.7e-3 |
SMART |
PLEC
|
2298 |
2348 |
3.7e-1 |
SMART |
PLEC
|
2368 |
2407 |
5.5e-6 |
SMART |
PLEC
|
2408 |
2445 |
1.5e-14 |
SMART |
PLEC
|
2446 |
2483 |
1.1e-10 |
SMART |
PLEC
|
2484 |
2521 |
1.3e-7 |
SMART |
PLEC
|
2522 |
2559 |
5e-1 |
SMART |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000141127 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
PDB:2ODU|A
|
56 |
153 |
6e-8 |
PDB |
low complexity region
|
194 |
219 |
N/A |
INTRINSIC |
SPEC
|
276 |
373 |
5.4e-11 |
SMART |
SPEC
|
376 |
476 |
1.8e-13 |
SMART |
Blast:SPEC
|
483 |
647 |
1e-73 |
BLAST |
coiled coil region
|
769 |
806 |
N/A |
INTRINSIC |
Blast:SPEC
|
850 |
959 |
1e-62 |
BLAST |
SPEC
|
966 |
1095 |
2.6e-2 |
SMART |
SPEC
|
1113 |
1212 |
2.9e-2 |
SMART |
SPEC
|
1229 |
1338 |
1.4e-3 |
SMART |
internal_repeat_10
|
1431 |
1471 |
9.93e-6 |
PROSPERO |
SPEC
|
1512 |
1631 |
1.1e-11 |
SMART |
SPEC
|
1638 |
1744 |
2.3e-10 |
SMART |
SPEC
|
1751 |
1850 |
2.9e-10 |
SMART |
SPEC
|
1860 |
1959 |
2.4e-2 |
SMART |
low complexity region
|
2032 |
2048 |
N/A |
INTRINSIC |
SPEC
|
2107 |
2212 |
1.2e-10 |
SMART |
SPEC
|
2219 |
2323 |
2.3e-13 |
SMART |
SPEC
|
2333 |
2433 |
1.1e-7 |
SMART |
SPEC
|
2440 |
2542 |
5e-13 |
SMART |
SPEC
|
2549 |
2649 |
1.4e-6 |
SMART |
SPEC
|
2659 |
2758 |
1.9e-2 |
SMART |
SPEC
|
2765 |
2868 |
1.8e-4 |
SMART |
SPEC
|
2875 |
2979 |
1.5e-6 |
SMART |
SPEC
|
2986 |
3088 |
8.2e-18 |
SMART |
SPEC
|
3095 |
3197 |
1.1e-13 |
SMART |
SPEC
|
3204 |
3306 |
6e-7 |
SMART |
SPEC
|
3313 |
3415 |
5.1e-4 |
SMART |
SPEC
|
3422 |
3524 |
2.3e-14 |
SMART |
SPEC
|
3531 |
3632 |
1.3e-14 |
SMART |
SPEC
|
3639 |
3745 |
2.6e-9 |
SMART |
SPEC
|
3752 |
3854 |
1.3e-17 |
SMART |
SPEC
|
3861 |
3964 |
1.8e-12 |
SMART |
SPEC
|
3971 |
4073 |
1.6e-28 |
SMART |
SPEC
|
4080 |
4182 |
3.3e-20 |
SMART |
SPEC
|
4189 |
4291 |
7.6e-17 |
SMART |
SPEC
|
4298 |
4401 |
5.6e-19 |
SMART |
SPEC
|
4408 |
4509 |
5.9e-25 |
SMART |
SPEC
|
4516 |
4618 |
3.4e-17 |
SMART |
SPEC
|
4628 |
4758 |
9.7e-11 |
SMART |
EFh
|
4792 |
4820 |
2e-5 |
SMART |
EFh
|
4828 |
4856 |
6e-5 |
SMART |
GAS2
|
4867 |
4945 |
9.8e-56 |
SMART |
low complexity region
|
4969 |
4987 |
N/A |
INTRINSIC |
low complexity region
|
4997 |
5009 |
N/A |
INTRINSIC |
low complexity region
|
5095 |
5118 |
N/A |
INTRINSIC |
PDB:3GJO|H
|
5146 |
5175 |
3e-9 |
PDB |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000139888 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
16 |
N/A |
INTRINSIC |
PDB:2ODU|A
|
56 |
161 |
6e-8 |
PDB |
low complexity region
|
194 |
219 |
N/A |
INTRINSIC |
SPEC
|
276 |
373 |
5.4e-11 |
SMART |
SPEC
|
376 |
476 |
1.8e-13 |
SMART |
Blast:SPEC
|
483 |
648 |
3e-75 |
BLAST |
coiled coil region
|
770 |
807 |
N/A |
INTRINSIC |
Blast:SPEC
|
849 |
960 |
2e-58 |
BLAST |
SPEC
|
967 |
1096 |
2.6e-2 |
SMART |
SPEC
|
1114 |
1213 |
2.9e-2 |
SMART |
PLEC
|
1212 |
1256 |
5.5e-5 |
SMART |
PLEC
|
1257 |
1294 |
1.7e-2 |
SMART |
PLEC
|
1332 |
1369 |
1.4e-2 |
SMART |
PLEC
|
1370 |
1407 |
2.7e-1 |
SMART |
PLEC
|
1410 |
1445 |
8.7e-1 |
SMART |
PLEC
|
1446 |
1483 |
4.8e-10 |
SMART |
PLEC
|
1486 |
1521 |
3.6e-3 |
SMART |
PLEC
|
1522 |
1559 |
1.7e-1 |
SMART |
PLEC
|
1561 |
1597 |
3e-2 |
SMART |
low complexity region
|
1969 |
1982 |
N/A |
INTRINSIC |
low complexity region
|
2041 |
2056 |
N/A |
INTRINSIC |
low complexity region
|
2152 |
2166 |
N/A |
INTRINSIC |
low complexity region
|
2241 |
2268 |
N/A |
INTRINSIC |
low complexity region
|
2336 |
2350 |
N/A |
INTRINSIC |
low complexity region
|
2468 |
2474 |
N/A |
INTRINSIC |
low complexity region
|
2514 |
2522 |
N/A |
INTRINSIC |
low complexity region
|
2721 |
2732 |
N/A |
INTRINSIC |
low complexity region
|
2969 |
2987 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
|
SMART Domains |
Protein: ENSMUSP00000140560 Gene: ENSMUSG00000026131
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
25 |
N/A |
INTRINSIC |
CH
|
77 |
176 |
8.1e-31 |
SMART |
CH
|
193 |
290 |
1.8e-21 |
SMART |
PDB:2ODU|A
|
301 |
519 |
1e-43 |
PDB |
SCOP:d1hcia1
|
308 |
423 |
4e-39 |
SMART |
low complexity region
|
560 |
585 |
N/A |
INTRINSIC |
SPEC
|
642 |
739 |
5.4e-11 |
SMART |
SPEC
|
742 |
842 |
1.8e-13 |
SMART |
Blast:SPEC
|
849 |
1013 |
3e-73 |
BLAST |
coiled coil region
|
1135 |
1172 |
N/A |
INTRINSIC |
Blast:SPEC
|
1216 |
1325 |
2e-62 |
BLAST |
SPEC
|
1332 |
1461 |
2.6e-2 |
SMART |
|
Predicted Effect |
probably null
|
Meta Mutation Damage Score |
0.9474 |
Is this an essential gene? |
Possibly nonessential (E-score: 0.342) |
Phenotypic Category |
Autosomal Recessive |
Candidate Explorer Status |
loading ... |
Single pedigree Linkage Analysis Data
|
|
Penetrance | |
Alleles Listed at MGI | All mutations/alleles(297) : Chemically induced (ENU)(3) Chemically induced (other)(1) Gene trapped(274) Spontaneous(15) Targeted(3) Transgenic(1)
|
Lab Alleles |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00233:Dst
|
APN |
1 |
34290920 |
missense |
probably damaging |
1.00 |
IGL00309:Dst
|
APN |
1 |
34199733 |
missense |
probably damaging |
1.00 |
IGL00334:Dst
|
APN |
1 |
34205373 |
missense |
probably damaging |
1.00 |
IGL00470:Dst
|
APN |
1 |
34228043 |
missense |
probably damaging |
1.00 |
IGL00481:Dst
|
APN |
1 |
34208410 |
splice site |
probably benign |
|
IGL00499:Dst
|
APN |
1 |
34329504 |
missense |
probably damaging |
0.99 |
IGL00803:Dst
|
APN |
1 |
34203205 |
missense |
possibly damaging |
0.89 |
IGL00850:Dst
|
APN |
1 |
34345705 |
missense |
probably damaging |
1.00 |
IGL00957:Dst
|
APN |
1 |
34267488 |
missense |
probably benign |
0.27 |
IGL00975:Dst
|
APN |
1 |
34227393 |
missense |
possibly damaging |
0.86 |
IGL00984:Dst
|
APN |
1 |
34295401 |
missense |
probably damaging |
1.00 |
IGL01284:Dst
|
APN |
1 |
34203009 |
missense |
probably damaging |
1.00 |
IGL01393:Dst
|
APN |
1 |
34206706 |
missense |
possibly damaging |
0.91 |
IGL01397:Dst
|
APN |
1 |
34296825 |
missense |
probably damaging |
1.00 |
IGL01399:Dst
|
APN |
1 |
34156598 |
missense |
probably benign |
0.41 |
IGL01412:Dst
|
APN |
1 |
34281701 |
missense |
probably benign |
0.21 |
IGL01527:Dst
|
APN |
1 |
34286734 |
missense |
probably damaging |
1.00 |
IGL01537:Dst
|
APN |
1 |
34314401 |
missense |
probably damaging |
1.00 |
IGL01618:Dst
|
APN |
1 |
34227990 |
nonsense |
probably null |
|
IGL01636:Dst
|
APN |
1 |
34254650 |
missense |
probably damaging |
1.00 |
IGL01642:Dst
|
APN |
1 |
34228470 |
missense |
probably damaging |
1.00 |
IGL01672:Dst
|
APN |
1 |
34264774 |
missense |
probably damaging |
1.00 |
IGL01685:Dst
|
APN |
1 |
34209533 |
missense |
probably damaging |
0.99 |
IGL01694:Dst
|
APN |
1 |
34227241 |
missense |
probably benign |
0.13 |
IGL01777:Dst
|
APN |
1 |
34238478 |
missense |
probably benign |
0.07 |
IGL01800:Dst
|
APN |
1 |
34301173 |
missense |
probably damaging |
1.00 |
IGL01811:Dst
|
APN |
1 |
34203173 |
missense |
probably damaging |
1.00 |
IGL01960:Dst
|
APN |
1 |
34329570 |
missense |
probably damaging |
1.00 |
IGL02031:Dst
|
APN |
1 |
34228998 |
missense |
possibly damaging |
0.95 |
IGL02103:Dst
|
APN |
1 |
34229199 |
missense |
possibly damaging |
0.90 |
IGL02121:Dst
|
APN |
1 |
34267738 |
missense |
probably damaging |
1.00 |
IGL02315:Dst
|
APN |
1 |
34237746 |
missense |
probably damaging |
1.00 |
IGL02317:Dst
|
APN |
1 |
34334244 |
missense |
probably damaging |
1.00 |
IGL02469:Dst
|
APN |
1 |
34227909 |
missense |
probably damaging |
1.00 |
IGL02492:Dst
|
APN |
1 |
34191274 |
splice site |
probably benign |
|
IGL02510:Dst
|
APN |
1 |
34268332 |
splice site |
probably null |
|
IGL02522:Dst
|
APN |
1 |
34289781 |
splice site |
probably benign |
|
IGL02540:Dst
|
APN |
1 |
34174285 |
missense |
probably damaging |
1.00 |
IGL02588:Dst
|
APN |
1 |
34156565 |
missense |
probably damaging |
1.00 |
IGL02676:Dst
|
APN |
1 |
34346668 |
missense |
probably damaging |
1.00 |
IGL02688:Dst
|
APN |
1 |
34235033 |
missense |
probably damaging |
1.00 |
IGL02700:Dst
|
APN |
1 |
34301201 |
missense |
probably damaging |
1.00 |
IGL02794:Dst
|
APN |
1 |
34309910 |
missense |
probably damaging |
1.00 |
IGL02823:Dst
|
APN |
1 |
34231164 |
missense |
possibly damaging |
0.83 |
IGL02935:Dst
|
APN |
1 |
34225926 |
nonsense |
probably null |
|
IGL02940:Dst
|
APN |
1 |
34328668 |
missense |
probably benign |
0.36 |
IGL02994:Dst
|
APN |
1 |
34268333 |
splice site |
probably benign |
|
IGL02996:Dst
|
APN |
1 |
34227479 |
missense |
possibly damaging |
0.93 |
IGL02998:Dst
|
APN |
1 |
34307356 |
missense |
probably damaging |
1.00 |
IGL03027:Dst
|
APN |
1 |
34225106 |
missense |
possibly damaging |
0.51 |
IGL03033:Dst
|
APN |
1 |
34208826 |
splice site |
probably benign |
|
IGL03099:Dst
|
APN |
1 |
34314862 |
missense |
probably damaging |
1.00 |
IGL03119:Dst
|
APN |
1 |
34200143 |
missense |
probably damaging |
1.00 |
IGL03121:Dst
|
APN |
1 |
34256884 |
splice site |
probably benign |
|
IGL03132:Dst
|
APN |
1 |
34295722 |
missense |
probably benign |
0.06 |
IGL03220:Dst
|
APN |
1 |
34225076 |
missense |
probably damaging |
0.99 |
IGL03230:Dst
|
APN |
1 |
34223133 |
nonsense |
probably null |
|
IGL03245:Dst
|
APN |
1 |
34250229 |
splice site |
probably null |
|
IGL03380:Dst
|
APN |
1 |
34296881 |
missense |
probably damaging |
1.00 |
Doodle
|
UTSW |
1 |
34247639 |
nonsense |
probably null |
|
dyssed
|
UTSW |
1 |
34295434 |
critical splice donor site |
probably null |
|
Phelps
|
UTSW |
1 |
34262876 |
splice site |
probably null |
|
tinsel
|
UTSW |
1 |
34203248 |
missense |
probably damaging |
1.00 |
Wastable
|
UTSW |
1 |
34334370 |
missense |
probably damaging |
1.00 |
E0370:Dst
|
UTSW |
1 |
34288552 |
splice site |
probably benign |
|
FR4304:Dst
|
UTSW |
1 |
34240045 |
missense |
probably damaging |
0.99 |
G1citation:Dst
|
UTSW |
1 |
34314755 |
missense |
probably damaging |
0.99 |
IGL02799:Dst
|
UTSW |
1 |
34218930 |
missense |
possibly damaging |
0.92 |
R0006:Dst
|
UTSW |
1 |
34267999 |
missense |
probably benign |
0.30 |
R0006:Dst
|
UTSW |
1 |
34267999 |
missense |
probably benign |
0.30 |
R0023:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0023:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0024:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0027:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0049:Dst
|
UTSW |
1 |
34314862 |
missense |
probably damaging |
1.00 |
R0053:Dst
|
UTSW |
1 |
34333631 |
splice site |
probably null |
|
R0053:Dst
|
UTSW |
1 |
34333631 |
splice site |
probably null |
|
R0058:Dst
|
UTSW |
1 |
34045305 |
missense |
possibly damaging |
0.93 |
R0066:Dst
|
UTSW |
1 |
34228634 |
missense |
possibly damaging |
0.67 |
R0066:Dst
|
UTSW |
1 |
34228634 |
missense |
possibly damaging |
0.67 |
R0085:Dst
|
UTSW |
1 |
34268268 |
missense |
probably damaging |
1.00 |
R0125:Dst
|
UTSW |
1 |
34309984 |
missense |
probably damaging |
1.00 |
R0152:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0165:Dst
|
UTSW |
1 |
34193727 |
splice site |
probably benign |
|
R0172:Dst
|
UTSW |
1 |
34309935 |
missense |
probably damaging |
1.00 |
R0207:Dst
|
UTSW |
1 |
34226016 |
missense |
probably benign |
0.02 |
R0219:Dst
|
UTSW |
1 |
34342559 |
missense |
probably damaging |
0.99 |
R0349:Dst
|
UTSW |
1 |
34238634 |
missense |
probably benign |
0.12 |
R0386:Dst
|
UTSW |
1 |
34256917 |
missense |
probably damaging |
1.00 |
R0389:Dst
|
UTSW |
1 |
34333631 |
splice site |
probably null |
|
R0395:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0423:Dst
|
UTSW |
1 |
34317116 |
missense |
possibly damaging |
0.95 |
R0443:Dst
|
UTSW |
1 |
34333631 |
splice site |
probably null |
|
R0472:Dst
|
UTSW |
1 |
34306041 |
critical splice donor site |
probably null |
|
R0490:Dst
|
UTSW |
1 |
34346449 |
nonsense |
probably null |
|
R0513:Dst
|
UTSW |
1 |
34258612 |
splice site |
probably benign |
|
R0539:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0562:Dst
|
UTSW |
1 |
34267062 |
missense |
probably damaging |
1.00 |
R0569:Dst
|
UTSW |
1 |
34332508 |
missense |
probably damaging |
1.00 |
R0600:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0608:Dst
|
UTSW |
1 |
34329437 |
splice site |
probably null |
|
R0609:Dst
|
UTSW |
1 |
34306041 |
critical splice donor site |
probably null |
|
R0630:Dst
|
UTSW |
1 |
34238554 |
missense |
probably damaging |
0.98 |
R0630:Dst
|
UTSW |
1 |
34232531 |
missense |
probably benign |
0.05 |
R0632:Dst
|
UTSW |
1 |
34310494 |
missense |
probably damaging |
1.00 |
R0713:Dst
|
UTSW |
1 |
34228200 |
missense |
probably damaging |
1.00 |
R0724:Dst
|
UTSW |
1 |
34227758 |
missense |
probably benign |
0.00 |
R0761:Dst
|
UTSW |
1 |
34221848 |
missense |
probably benign |
0.33 |
R0801:Dst
|
UTSW |
1 |
34209470 |
missense |
probably damaging |
0.99 |
R0829:Dst
|
UTSW |
1 |
34202301 |
missense |
probably damaging |
1.00 |
R0939:Dst
|
UTSW |
1 |
34283464 |
missense |
probably damaging |
1.00 |
R0945:Dst
|
UTSW |
1 |
34310500 |
missense |
probably damaging |
1.00 |
R0992:Dst
|
UTSW |
1 |
34238617 |
missense |
probably damaging |
0.97 |
R1018:Dst
|
UTSW |
1 |
34233174 |
missense |
probably damaging |
1.00 |
R1077:Dst
|
UTSW |
1 |
34203248 |
missense |
probably damaging |
1.00 |
R1079:Dst
|
UTSW |
1 |
34225944 |
missense |
possibly damaging |
0.86 |
R1127:Dst
|
UTSW |
1 |
34314358 |
missense |
probably damaging |
1.00 |
R1129:Dst
|
UTSW |
1 |
34238635 |
missense |
probably benign |
0.28 |
R1141:Dst
|
UTSW |
1 |
34227777 |
missense |
possibly damaging |
0.85 |
R1167:Dst
|
UTSW |
1 |
34262939 |
missense |
probably damaging |
1.00 |
R1195:Dst
|
UTSW |
1 |
34250235 |
missense |
probably damaging |
1.00 |
R1195:Dst
|
UTSW |
1 |
34250235 |
missense |
probably damaging |
1.00 |
R1195:Dst
|
UTSW |
1 |
34250235 |
missense |
probably damaging |
1.00 |
R1333:Dst
|
UTSW |
1 |
34267428 |
missense |
probably damaging |
1.00 |
R1352:Dst
|
UTSW |
1 |
34268329 |
critical splice donor site |
probably null |
|
R1365:Dst
|
UTSW |
1 |
34227275 |
missense |
probably benign |
0.02 |
R1382:Dst
|
UTSW |
1 |
34307914 |
missense |
probably damaging |
0.99 |
R1389:Dst
|
UTSW |
1 |
34250313 |
missense |
probably damaging |
1.00 |
R1394:Dst
|
UTSW |
1 |
34204236 |
critical splice donor site |
probably null |
|
R1395:Dst
|
UTSW |
1 |
34204236 |
critical splice donor site |
probably null |
|
R1435:Dst
|
UTSW |
1 |
34153026 |
missense |
probably damaging |
1.00 |
R1450:Dst
|
UTSW |
1 |
34251340 |
missense |
probably damaging |
0.99 |
R1450:Dst
|
UTSW |
1 |
34227476 |
missense |
probably damaging |
1.00 |
R1453:Dst
|
UTSW |
1 |
34228527 |
missense |
possibly damaging |
0.85 |
R1479:Dst
|
UTSW |
1 |
34303596 |
splice site |
probably null |
|
R1483:Dst
|
UTSW |
1 |
34292079 |
missense |
probably damaging |
1.00 |
R1491:Dst
|
UTSW |
1 |
34193675 |
missense |
probably damaging |
0.99 |
R1536:Dst
|
UTSW |
1 |
34299453 |
splice site |
probably benign |
|
R1551:Dst
|
UTSW |
1 |
34231293 |
missense |
probably benign |
0.01 |
R1573:Dst
|
UTSW |
1 |
34240312 |
missense |
probably damaging |
1.00 |
R1614:Dst
|
UTSW |
1 |
34314344 |
missense |
probably damaging |
1.00 |
R1615:Dst
|
UTSW |
1 |
34238452 |
missense |
probably damaging |
1.00 |
R1645:Dst
|
UTSW |
1 |
34264803 |
missense |
probably damaging |
1.00 |
R1655:Dst
|
UTSW |
1 |
34321657 |
nonsense |
probably null |
|
R1663:Dst
|
UTSW |
1 |
34202466 |
missense |
probably damaging |
1.00 |
R1674:Dst
|
UTSW |
1 |
34262876 |
splice site |
probably null |
|
R1702:Dst
|
UTSW |
1 |
34206421 |
missense |
probably damaging |
1.00 |
R1707:Dst
|
UTSW |
1 |
34206727 |
missense |
probably damaging |
1.00 |
R1747:Dst
|
UTSW |
1 |
34199790 |
missense |
probably damaging |
1.00 |
R1760:Dst
|
UTSW |
1 |
34267684 |
missense |
probably damaging |
1.00 |
R1773:Dst
|
UTSW |
1 |
34330980 |
missense |
probably damaging |
0.99 |
R1793:Dst
|
UTSW |
1 |
34191552 |
nonsense |
probably null |
|
R1842:Dst
|
UTSW |
1 |
34203200 |
missense |
probably null |
0.98 |
R1869:Dst
|
UTSW |
1 |
34291913 |
missense |
probably damaging |
0.99 |
R1879:Dst
|
UTSW |
1 |
34227924 |
missense |
probably benign |
0.15 |
R1883:Dst
|
UTSW |
1 |
34228389 |
missense |
possibly damaging |
0.74 |
R1912:Dst
|
UTSW |
1 |
34330931 |
missense |
probably damaging |
1.00 |
R1920:Dst
|
UTSW |
1 |
34200110 |
missense |
probably damaging |
0.99 |
R1921:Dst
|
UTSW |
1 |
34200110 |
missense |
probably damaging |
0.99 |
R1943:Dst
|
UTSW |
1 |
34267450 |
missense |
possibly damaging |
0.67 |
R1958:Dst
|
UTSW |
1 |
34202802 |
missense |
probably damaging |
1.00 |
R1962:Dst
|
UTSW |
1 |
34230097 |
missense |
possibly damaging |
0.47 |
R1991:Dst
|
UTSW |
1 |
34229339 |
missense |
probably benign |
0.11 |
R1998:Dst
|
UTSW |
1 |
34295428 |
missense |
probably damaging |
1.00 |
R2001:Dst
|
UTSW |
1 |
34223144 |
missense |
probably damaging |
0.97 |
R2007:Dst
|
UTSW |
1 |
34265093 |
splice site |
probably benign |
|
R2021:Dst
|
UTSW |
1 |
34205372 |
missense |
possibly damaging |
0.70 |
R2022:Dst
|
UTSW |
1 |
34205372 |
missense |
possibly damaging |
0.70 |
R2035:Dst
|
UTSW |
1 |
34310494 |
missense |
probably damaging |
1.00 |
R2077:Dst
|
UTSW |
1 |
34250251 |
missense |
probably damaging |
1.00 |
R2103:Dst
|
UTSW |
1 |
34229339 |
missense |
probably benign |
0.11 |
R2111:Dst
|
UTSW |
1 |
34208259 |
missense |
probably damaging |
1.00 |
R2112:Dst
|
UTSW |
1 |
34208259 |
missense |
probably damaging |
1.00 |
R2113:Dst
|
UTSW |
1 |
34314317 |
missense |
probably damaging |
0.97 |
R2201:Dst
|
UTSW |
1 |
34235002 |
missense |
possibly damaging |
0.60 |
R2214:Dst
|
UTSW |
1 |
34310482 |
missense |
probably damaging |
1.00 |
R2219:Dst
|
UTSW |
1 |
34209514 |
missense |
probably damaging |
1.00 |
R2233:Dst
|
UTSW |
1 |
34313343 |
missense |
probably damaging |
1.00 |
R2267:Dst
|
UTSW |
1 |
34334547 |
missense |
probably damaging |
1.00 |
R2290:Dst
|
UTSW |
1 |
34268281 |
missense |
probably damaging |
1.00 |
R2323:Dst
|
UTSW |
1 |
34267518 |
missense |
possibly damaging |
0.93 |
R2424:Dst
|
UTSW |
1 |
34206141 |
missense |
probably damaging |
1.00 |
R2426:Dst
|
UTSW |
1 |
34231893 |
missense |
probably benign |
0.03 |
R2495:Dst
|
UTSW |
1 |
34238454 |
missense |
probably damaging |
0.99 |
R2507:Dst
|
UTSW |
1 |
34227498 |
missense |
possibly damaging |
0.85 |
R2507:Dst
|
UTSW |
1 |
34050990 |
missense |
probably damaging |
0.98 |
R2510:Dst
|
UTSW |
1 |
34251367 |
missense |
probably benign |
|
R2831:Dst
|
UTSW |
1 |
34314373 |
missense |
probably damaging |
1.00 |
R2929:Dst
|
UTSW |
1 |
34206143 |
nonsense |
probably null |
|
R3033:Dst
|
UTSW |
1 |
34191366 |
missense |
probably damaging |
0.99 |
R3121:Dst
|
UTSW |
1 |
34328729 |
missense |
probably damaging |
1.00 |
R3424:Dst
|
UTSW |
1 |
34237586 |
splice site |
probably benign |
|
R3437:Dst
|
UTSW |
1 |
34229303 |
missense |
probably damaging |
1.00 |
R3699:Dst
|
UTSW |
1 |
34252155 |
splice site |
probably benign |
|
R3739:Dst
|
UTSW |
1 |
34307975 |
splice site |
probably benign |
|
R3796:Dst
|
UTSW |
1 |
34220996 |
missense |
probably benign |
0.15 |
R3847:Dst
|
UTSW |
1 |
34251400 |
missense |
probably damaging |
1.00 |
R3848:Dst
|
UTSW |
1 |
34251400 |
missense |
probably damaging |
1.00 |
R3849:Dst
|
UTSW |
1 |
34251400 |
missense |
probably damaging |
1.00 |
R3850:Dst
|
UTSW |
1 |
34228355 |
nonsense |
probably null |
|
R3850:Dst
|
UTSW |
1 |
34251400 |
missense |
probably damaging |
1.00 |
R3873:Dst
|
UTSW |
1 |
34328701 |
missense |
probably damaging |
1.00 |
R3875:Dst
|
UTSW |
1 |
34210328 |
missense |
probably damaging |
1.00 |
R3973:Dst
|
UTSW |
1 |
34050979 |
missense |
probably benign |
0.34 |
R4014:Dst
|
UTSW |
1 |
34230363 |
nonsense |
probably null |
|
R4043:Dst
|
UTSW |
1 |
34229765 |
missense |
probably benign |
0.03 |
R4057:Dst
|
UTSW |
1 |
34225135 |
splice site |
probably benign |
|
R4074:Dst
|
UTSW |
1 |
34267542 |
missense |
probably damaging |
0.97 |
R4074:Dst
|
UTSW |
1 |
34231350 |
missense |
probably benign |
0.20 |
R4075:Dst
|
UTSW |
1 |
34231350 |
missense |
probably benign |
0.20 |
R4076:Dst
|
UTSW |
1 |
34231350 |
missense |
probably benign |
0.20 |
R4206:Dst
|
UTSW |
1 |
34251328 |
missense |
probably damaging |
1.00 |
R4230:Dst
|
UTSW |
1 |
34234909 |
missense |
probably benign |
0.04 |
R4242:Dst
|
UTSW |
1 |
34045297 |
missense |
possibly damaging |
0.88 |
R4273:Dst
|
UTSW |
1 |
34231421 |
missense |
possibly damaging |
0.72 |
R4366:Dst
|
UTSW |
1 |
34290959 |
missense |
probably damaging |
1.00 |
R4370:Dst
|
UTSW |
1 |
34290809 |
frame shift |
probably null |
|
R4379:Dst
|
UTSW |
1 |
34267056 |
missense |
probably benign |
0.07 |
R4379:Dst
|
UTSW |
1 |
34202316 |
missense |
probably damaging |
1.00 |
R4380:Dst
|
UTSW |
1 |
34202316 |
missense |
probably damaging |
1.00 |
R4381:Dst
|
UTSW |
1 |
34202316 |
missense |
probably damaging |
1.00 |
R4423:Dst
|
UTSW |
1 |
34227474 |
missense |
possibly damaging |
0.76 |
R4427:Dst
|
UTSW |
1 |
34220541 |
missense |
probably benign |
0.19 |
R4456:Dst
|
UTSW |
1 |
34229800 |
missense |
probably benign |
0.06 |
R4469:Dst
|
UTSW |
1 |
34230923 |
missense |
probably benign |
0.02 |
R4502:Dst
|
UTSW |
1 |
34286772 |
missense |
probably damaging |
0.99 |
R4503:Dst
|
UTSW |
1 |
34301334 |
critical splice donor site |
probably null |
|
R4545:Dst
|
UTSW |
1 |
34227819 |
missense |
probably damaging |
0.99 |
R4610:Dst
|
UTSW |
1 |
34208937 |
missense |
probably damaging |
1.00 |
R4633:Dst
|
UTSW |
1 |
34209515 |
missense |
probably damaging |
1.00 |
R4675:Dst
|
UTSW |
1 |
34314784 |
missense |
possibly damaging |
0.94 |
R4687:Dst
|
UTSW |
1 |
34240204 |
missense |
probably damaging |
1.00 |
R4739:Dst
|
UTSW |
1 |
34230228 |
missense |
probably benign |
0.01 |
R4751:Dst
|
UTSW |
1 |
34230965 |
missense |
probably benign |
0.21 |
R4754:Dst
|
UTSW |
1 |
34251390 |
missense |
probably damaging |
1.00 |
R4771:Dst
|
UTSW |
1 |
34288565 |
missense |
probably damaging |
1.00 |
R4819:Dst
|
UTSW |
1 |
34007916 |
missense |
probably benign |
0.03 |
R4830:Dst
|
UTSW |
1 |
34237586 |
splice site |
probably null |
|
R4839:Dst
|
UTSW |
1 |
34229943 |
missense |
probably damaging |
0.96 |
R4845:Dst
|
UTSW |
1 |
34232208 |
missense |
probably benign |
0.02 |
R4904:Dst
|
UTSW |
1 |
34208879 |
missense |
probably damaging |
0.99 |
R4932:Dst
|
UTSW |
1 |
34267764 |
missense |
possibly damaging |
0.47 |
R4934:Dst
|
UTSW |
1 |
34247669 |
missense |
probably damaging |
1.00 |
R4952:Dst
|
UTSW |
1 |
34310503 |
missense |
probably damaging |
1.00 |
R4961:Dst
|
UTSW |
1 |
34007904 |
missense |
possibly damaging |
0.53 |
R4976:Dst
|
UTSW |
1 |
34235050 |
nonsense |
probably null |
|
R4980:Dst
|
UTSW |
1 |
34295369 |
missense |
probably damaging |
1.00 |
R5011:Dst
|
UTSW |
1 |
34289728 |
missense |
probably damaging |
1.00 |
R5013:Dst
|
UTSW |
1 |
34289728 |
missense |
probably damaging |
1.00 |
R5059:Dst
|
UTSW |
1 |
34202427 |
missense |
possibly damaging |
0.70 |
R5074:Dst
|
UTSW |
1 |
34334344 |
missense |
probably damaging |
1.00 |
R5114:Dst
|
UTSW |
1 |
34241640 |
missense |
probably damaging |
0.98 |
R5119:Dst
|
UTSW |
1 |
34235050 |
nonsense |
probably null |
|
R5182:Dst
|
UTSW |
1 |
34218167 |
missense |
probably benign |
|
R5236:Dst
|
UTSW |
1 |
34203498 |
missense |
probably damaging |
1.00 |
R5240:Dst
|
UTSW |
1 |
34247639 |
nonsense |
probably null |
|
R5254:Dst
|
UTSW |
1 |
34217012 |
nonsense |
probably null |
|
R5275:Dst
|
UTSW |
1 |
34219229 |
missense |
probably benign |
0.13 |
R5281:Dst
|
UTSW |
1 |
34296863 |
missense |
probably benign |
0.29 |
R5299:Dst
|
UTSW |
1 |
34174173 |
missense |
probably damaging |
1.00 |
R5316:Dst
|
UTSW |
1 |
34262929 |
missense |
probably damaging |
0.97 |
R5319:Dst
|
UTSW |
1 |
34265058 |
missense |
possibly damaging |
0.95 |
R5425:Dst
|
UTSW |
1 |
34218831 |
missense |
probably benign |
0.00 |
R5443:Dst
|
UTSW |
1 |
34267620 |
missense |
probably damaging |
1.00 |
R5522:Dst
|
UTSW |
1 |
34296954 |
missense |
possibly damaging |
0.46 |
R5537:Dst
|
UTSW |
1 |
34228959 |
missense |
probably benign |
0.25 |
R5548:Dst
|
UTSW |
1 |
34228409 |
missense |
probably benign |
|
R5557:Dst
|
UTSW |
1 |
34321667 |
missense |
probably damaging |
1.00 |
R5597:Dst
|
UTSW |
1 |
34231794 |
missense |
probably benign |
0.07 |
R5623:Dst
|
UTSW |
1 |
34229214 |
missense |
possibly damaging |
0.56 |
R5630:Dst
|
UTSW |
1 |
34227866 |
frame shift |
probably null |
|
R5660:Dst
|
UTSW |
1 |
34321574 |
missense |
probably damaging |
1.00 |
R5730:Dst
|
UTSW |
1 |
34156607 |
splice site |
probably null |
|
R5762:Dst
|
UTSW |
1 |
34218438 |
missense |
probably damaging |
0.99 |
R5810:Dst
|
UTSW |
1 |
34222121 |
intron |
probably benign |
|
R5816:Dst
|
UTSW |
1 |
34218315 |
missense |
probably benign |
|
R5846:Dst
|
UTSW |
1 |
34234942 |
nonsense |
probably null |
|
R5874:Dst
|
UTSW |
1 |
34218670 |
missense |
probably damaging |
0.98 |
R5899:Dst
|
UTSW |
1 |
34334370 |
missense |
probably damaging |
1.00 |
R5923:Dst
|
UTSW |
1 |
34220840 |
missense |
probably benign |
0.00 |
R5936:Dst
|
UTSW |
1 |
34346539 |
missense |
probably damaging |
1.00 |
R5946:Dst
|
UTSW |
1 |
34213273 |
missense |
probably benign |
0.01 |
R5950:Dst
|
UTSW |
1 |
34301141 |
missense |
probably damaging |
1.00 |
R5958:Dst
|
UTSW |
1 |
34225131 |
missense |
probably damaging |
0.97 |
R5973:Dst
|
UTSW |
1 |
34195938 |
missense |
probably damaging |
1.00 |
R5979:Dst
|
UTSW |
1 |
34199453 |
intron |
probably benign |
|
R5980:Dst
|
UTSW |
1 |
34221972 |
missense |
probably benign |
0.34 |
R5984:Dst
|
UTSW |
1 |
34211344 |
missense |
probably benign |
0.05 |
R6000:Dst
|
UTSW |
1 |
34251304 |
missense |
possibly damaging |
0.92 |
R6014:Dst
|
UTSW |
1 |
34303915 |
missense |
probably damaging |
1.00 |
R6042:Dst
|
UTSW |
1 |
34228053 |
missense |
probably damaging |
1.00 |
R6064:Dst
|
UTSW |
1 |
34233132 |
missense |
probably damaging |
1.00 |
R6126:Dst
|
UTSW |
1 |
34267264 |
missense |
probably damaging |
1.00 |
R6157:Dst
|
UTSW |
1 |
34250253 |
missense |
probably damaging |
1.00 |
R6162:Dst
|
UTSW |
1 |
34045318 |
missense |
probably damaging |
0.99 |
R6185:Dst
|
UTSW |
1 |
34212161 |
missense |
probably damaging |
0.99 |
R6226:Dst
|
UTSW |
1 |
34309955 |
missense |
probably damaging |
1.00 |
R6227:Dst
|
UTSW |
1 |
34233621 |
missense |
probably benign |
0.41 |
R6232:Dst
|
UTSW |
1 |
34227253 |
missense |
probably damaging |
1.00 |
R6259:Dst
|
UTSW |
1 |
34221477 |
missense |
probably benign |
0.26 |
R6267:Dst
|
UTSW |
1 |
34267753 |
missense |
probably damaging |
1.00 |
R6273:Dst
|
UTSW |
1 |
34314347 |
missense |
probably damaging |
1.00 |
R6284:Dst
|
UTSW |
1 |
34268166 |
missense |
probably damaging |
1.00 |
R6347:Dst
|
UTSW |
1 |
34218765 |
splice site |
probably null |
|
R6365:Dst
|
UTSW |
1 |
34231008 |
missense |
probably damaging |
1.00 |
R6385:Dst
|
UTSW |
1 |
34346549 |
missense |
possibly damaging |
0.85 |
R6389:Dst
|
UTSW |
1 |
34232265 |
missense |
probably damaging |
0.99 |
R6395:Dst
|
UTSW |
1 |
34221771 |
missense |
probably benign |
0.17 |
R6416:Dst
|
UTSW |
1 |
34155209 |
missense |
probably damaging |
1.00 |
R6467:Dst
|
UTSW |
1 |
34334277 |
missense |
probably damaging |
1.00 |
R6470:Dst
|
UTSW |
1 |
34334318 |
missense |
probably damaging |
1.00 |
R6477:Dst
|
UTSW |
1 |
34247809 |
splice site |
probably null |
|
R6485:Dst
|
UTSW |
1 |
34333610 |
missense |
probably damaging |
1.00 |
R6491:Dst
|
UTSW |
1 |
34232093 |
missense |
probably benign |
0.10 |
R6525:Dst
|
UTSW |
1 |
34202216 |
missense |
probably damaging |
1.00 |
R6533:Dst
|
UTSW |
1 |
34342590 |
missense |
probably benign |
0.08 |
R6595:Dst
|
UTSW |
1 |
34289761 |
missense |
probably damaging |
1.00 |
R6622:Dst
|
UTSW |
1 |
34218332 |
missense |
probably benign |
0.22 |
R6646:Dst
|
UTSW |
1 |
34307888 |
missense |
possibly damaging |
0.80 |
R6648:Dst
|
UTSW |
1 |
34301122 |
missense |
possibly damaging |
0.84 |
R6700:Dst
|
UTSW |
1 |
34295404 |
missense |
probably damaging |
1.00 |
R6743:Dst
|
UTSW |
1 |
34309971 |
missense |
probably damaging |
1.00 |
R6761:Dst
|
UTSW |
1 |
34253631 |
missense |
probably damaging |
1.00 |
R6766:Dst
|
UTSW |
1 |
34333564 |
missense |
probably damaging |
1.00 |
R6768:Dst
|
UTSW |
1 |
34220793 |
missense |
probably damaging |
0.98 |
R6810:Dst
|
UTSW |
1 |
34251379 |
missense |
probably damaging |
1.00 |
R6815:Dst
|
UTSW |
1 |
34267450 |
missense |
possibly damaging |
0.67 |
R6820:Dst
|
UTSW |
1 |
34250337 |
missense |
probably damaging |
1.00 |
R6822:Dst
|
UTSW |
1 |
34314755 |
missense |
probably damaging |
0.99 |
R6831:Dst
|
UTSW |
1 |
34229765 |
missense |
probably benign |
0.03 |
R6874:Dst
|
UTSW |
1 |
34328732 |
missense |
probably benign |
0.29 |
R6945:Dst
|
UTSW |
1 |
34229571 |
missense |
probably damaging |
1.00 |
R6985:Dst
|
UTSW |
1 |
34229934 |
missense |
probably benign |
0.08 |
R6995:Dst
|
UTSW |
1 |
34205315 |
missense |
probably damaging |
1.00 |
R7038:Dst
|
UTSW |
1 |
34221879 |
nonsense |
probably null |
|
R7043:Dst
|
UTSW |
1 |
34296992 |
missense |
probably damaging |
0.99 |
R7070:Dst
|
UTSW |
1 |
34314383 |
missense |
probably damaging |
1.00 |
R7097:Dst
|
UTSW |
1 |
34208341 |
missense |
probably damaging |
1.00 |
R7139:Dst
|
UTSW |
1 |
34338888 |
missense |
probably damaging |
0.97 |
R7144:Dst
|
UTSW |
1 |
34191324 |
missense |
probably damaging |
1.00 |
R7145:Dst
|
UTSW |
1 |
34228963 |
missense |
probably benign |
|
R7158:Dst
|
UTSW |
1 |
34313366 |
missense |
probably benign |
|
R7207:Dst
|
UTSW |
1 |
34202418 |
missense |
probably damaging |
0.98 |
R7320:Dst
|
UTSW |
1 |
34230175 |
missense |
probably benign |
|
R7324:Dst
|
UTSW |
1 |
34045305 |
missense |
possibly damaging |
0.93 |
R7327:Dst
|
UTSW |
1 |
34240486 |
missense |
probably damaging |
1.00 |
R7340:Dst
|
UTSW |
1 |
34229810 |
missense |
probably benign |
0.01 |
R7358:Dst
|
UTSW |
1 |
34230754 |
missense |
probably benign |
|
R7373:Dst
|
UTSW |
1 |
34227472 |
missense |
probably benign |
0.02 |
R7376:Dst
|
UTSW |
1 |
34231770 |
missense |
probably benign |
|
R7453:Dst
|
UTSW |
1 |
34230439 |
missense |
possibly damaging |
0.95 |
R7467:Dst
|
UTSW |
1 |
34230236 |
missense |
probably benign |
0.00 |
R7471:Dst
|
UTSW |
1 |
34233651 |
missense |
possibly damaging |
0.49 |
R7472:Dst
|
UTSW |
1 |
34257578 |
missense |
probably benign |
0.02 |
R7485:Dst
|
UTSW |
1 |
34313270 |
missense |
probably benign |
0.31 |
R7504:Dst
|
UTSW |
1 |
34240098 |
missense |
probably damaging |
1.00 |
R7516:Dst
|
UTSW |
1 |
34209560 |
missense |
probably benign |
0.10 |
R7524:Dst
|
UTSW |
1 |
34330974 |
missense |
possibly damaging |
0.94 |
R7528:Dst
|
UTSW |
1 |
34333603 |
missense |
probably damaging |
1.00 |
R7560:Dst
|
UTSW |
1 |
34221532 |
missense |
possibly damaging |
0.92 |
R7582:Dst
|
UTSW |
1 |
34208964 |
missense |
probably damaging |
1.00 |
R7585:Dst
|
UTSW |
1 |
34153096 |
missense |
possibly damaging |
0.50 |
R7594:Dst
|
UTSW |
1 |
34252094 |
missense |
probably damaging |
1.00 |
R7600:Dst
|
UTSW |
1 |
34306011 |
missense |
probably damaging |
1.00 |
R7619:Dst
|
UTSW |
1 |
34238509 |
missense |
probably benign |
0.02 |
R7623:Dst
|
UTSW |
1 |
34209517 |
missense |
probably damaging |
0.99 |
R7649:Dst
|
UTSW |
1 |
34206778 |
missense |
probably benign |
0.13 |
R7654:Dst
|
UTSW |
1 |
34268059 |
missense |
probably damaging |
1.00 |
R7654:Dst
|
UTSW |
1 |
34268058 |
missense |
probably damaging |
1.00 |
R7661:Dst
|
UTSW |
1 |
34295434 |
critical splice donor site |
probably null |
|
R7667:Dst
|
UTSW |
1 |
34218116 |
missense |
possibly damaging |
0.82 |
R7677:Dst
|
UTSW |
1 |
34208403 |
critical splice donor site |
probably null |
|
R7698:Dst
|
UTSW |
1 |
34229468 |
missense |
probably benign |
0.02 |
R7765:Dst
|
UTSW |
1 |
34314775 |
missense |
probably damaging |
0.97 |
R7772:Dst
|
UTSW |
1 |
34220469 |
missense |
possibly damaging |
0.90 |
R7779:Dst
|
UTSW |
1 |
34233678 |
missense |
probably damaging |
0.99 |
R7791:Dst
|
UTSW |
1 |
34193673 |
missense |
probably damaging |
0.99 |
R7821:Dst
|
UTSW |
1 |
34314443 |
critical splice donor site |
probably null |
|
R7834:Dst
|
UTSW |
1 |
34233186 |
missense |
probably benign |
0.22 |
R7935:Dst
|
UTSW |
1 |
34329486 |
missense |
probably damaging |
1.00 |
R7940:Dst
|
UTSW |
1 |
34206757 |
missense |
possibly damaging |
0.94 |
R7951:Dst
|
UTSW |
1 |
34240267 |
missense |
probably benign |
|
R7956:Dst
|
UTSW |
1 |
34264699 |
missense |
probably damaging |
1.00 |
R7970:Dst
|
UTSW |
1 |
34221828 |
missense |
possibly damaging |
0.80 |
R7982:Dst
|
UTSW |
1 |
34221621 |
missense |
possibly damaging |
0.89 |
R8048:Dst
|
UTSW |
1 |
34229717 |
missense |
probably benign |
0.00 |
R8052:Dst
|
UTSW |
1 |
34323444 |
missense |
probably damaging |
1.00 |
R8094:Dst
|
UTSW |
1 |
34228040 |
missense |
possibly damaging |
0.76 |
R8116:Dst
|
UTSW |
1 |
34313261 |
missense |
probably benign |
0.27 |
R8127:Dst
|
UTSW |
1 |
34217310 |
missense |
probably damaging |
1.00 |
R8139:Dst
|
UTSW |
1 |
34230933 |
missense |
probably benign |
|
R8205:Dst
|
UTSW |
1 |
34253685 |
missense |
probably damaging |
1.00 |
R8211:Dst
|
UTSW |
1 |
34251532 |
missense |
probably damaging |
1.00 |
R8237:Dst
|
UTSW |
1 |
34208874 |
missense |
possibly damaging |
0.96 |
R8265:Dst
|
UTSW |
1 |
34217603 |
missense |
probably benign |
0.13 |
R8309:Dst
|
UTSW |
1 |
34156592 |
missense |
probably damaging |
1.00 |
R8315:Dst
|
UTSW |
1 |
34323501 |
critical splice donor site |
probably null |
|
R8469:Dst
|
UTSW |
1 |
34268109 |
missense |
probably damaging |
1.00 |
R8474:Dst
|
UTSW |
1 |
34208266 |
missense |
probably damaging |
1.00 |
R8502:Dst
|
UTSW |
1 |
34206373 |
missense |
probably damaging |
1.00 |
R8534:Dst
|
UTSW |
1 |
34229388 |
missense |
probably benign |
0.12 |
R8535:Dst
|
UTSW |
1 |
34225082 |
missense |
probably damaging |
1.00 |
R8536:Dst
|
UTSW |
1 |
34236327 |
missense |
possibly damaging |
0.64 |
R8542:Dst
|
UTSW |
1 |
34231688 |
missense |
possibly damaging |
0.61 |
R8560:Dst
|
UTSW |
1 |
34307970 |
missense |
probably damaging |
1.00 |
R8737:Dst
|
UTSW |
1 |
34267750 |
missense |
probably benign |
0.00 |
R8742:Dst
|
UTSW |
1 |
34251425 |
missense |
probably benign |
0.01 |
R8882:Dst
|
UTSW |
1 |
34240005 |
missense |
probably damaging |
1.00 |
R8894:Dst
|
UTSW |
1 |
34213214 |
missense |
possibly damaging |
0.96 |
R8973:Dst
|
UTSW |
1 |
34267936 |
missense |
probably damaging |
1.00 |
R8977:Dst
|
UTSW |
1 |
34286864 |
missense |
probably damaging |
0.99 |
R8985:Dst
|
UTSW |
1 |
34288886 |
missense |
probably benign |
0.00 |
R9001:Dst
|
UTSW |
1 |
34213292 |
missense |
possibly damaging |
0.63 |
R9005:Dst
|
UTSW |
1 |
34267774 |
missense |
probably damaging |
0.99 |
R9013:Dst
|
UTSW |
1 |
34217165 |
missense |
possibly damaging |
0.46 |
R9015:Dst
|
UTSW |
1 |
34326337 |
missense |
probably benign |
0.00 |
R9018:Dst
|
UTSW |
1 |
34235140 |
missense |
probably damaging |
0.97 |
R9023:Dst
|
UTSW |
1 |
34153105 |
critical splice donor site |
probably null |
|
R9025:Dst
|
UTSW |
1 |
34227585 |
missense |
possibly damaging |
0.73 |
R9052:Dst
|
UTSW |
1 |
34236411 |
nonsense |
probably null |
|
R9052:Dst
|
UTSW |
1 |
34206045 |
missense |
probably damaging |
1.00 |
R9147:Dst
|
UTSW |
1 |
34228149 |
missense |
probably damaging |
0.99 |
R9169:Dst
|
UTSW |
1 |
34303652 |
missense |
probably damaging |
1.00 |
R9181:Dst
|
UTSW |
1 |
34231818 |
missense |
probably benign |
|
R9224:Dst
|
UTSW |
1 |
34330879 |
missense |
probably damaging |
1.00 |
R9245:Dst
|
UTSW |
1 |
34228943 |
missense |
probably benign |
|
R9267:Dst
|
UTSW |
1 |
34232145 |
missense |
probably benign |
|
R9302:Dst
|
UTSW |
1 |
34264636 |
missense |
probably damaging |
1.00 |
R9344:Dst
|
UTSW |
1 |
34220676 |
missense |
probably damaging |
0.99 |
R9363:Dst
|
UTSW |
1 |
34235060 |
missense |
probably damaging |
1.00 |
R9441:Dst
|
UTSW |
1 |
34238432 |
missense |
probably damaging |
1.00 |
R9477:Dst
|
UTSW |
1 |
34205292 |
missense |
probably damaging |
1.00 |
R9501:Dst
|
UTSW |
1 |
34227849 |
missense |
probably damaging |
0.98 |
R9509:Dst
|
UTSW |
1 |
33947465 |
missense |
possibly damaging |
0.72 |
R9572:Dst
|
UTSW |
1 |
34250252 |
missense |
probably damaging |
1.00 |
R9598:Dst
|
UTSW |
1 |
34153014 |
missense |
possibly damaging |
0.79 |
R9651:Dst
|
UTSW |
1 |
34219458 |
missense |
probably benign |
0.39 |
R9652:Dst
|
UTSW |
1 |
34219458 |
missense |
probably benign |
0.39 |
R9664:Dst
|
UTSW |
1 |
34220736 |
missense |
probably benign |
0.33 |
R9666:Dst
|
UTSW |
1 |
34218947 |
nonsense |
probably null |
|
R9707:Dst
|
UTSW |
1 |
34228934 |
missense |
probably benign |
0.28 |
R9721:Dst
|
UTSW |
1 |
34231866 |
missense |
probably benign |
|
R9727:Dst
|
UTSW |
1 |
34314877 |
missense |
probably damaging |
1.00 |
R9781:Dst
|
UTSW |
1 |
34218075 |
missense |
probably benign |
|
R9787:Dst
|
UTSW |
1 |
34219524 |
missense |
probably benign |
0.02 |
RF014:Dst
|
UTSW |
1 |
34286760 |
missense |
probably benign |
0.00 |
X0026:Dst
|
UTSW |
1 |
34252136 |
missense |
probably damaging |
0.97 |
X0028:Dst
|
UTSW |
1 |
34231280 |
missense |
probably damaging |
1.00 |
X0063:Dst
|
UTSW |
1 |
34234976 |
missense |
probably damaging |
1.00 |
X0066:Dst
|
UTSW |
1 |
34314784 |
nonsense |
probably null |
|
Z1176:Dst
|
UTSW |
1 |
34283526 |
missense |
probably benign |
0.02 |
Z1176:Dst
|
UTSW |
1 |
34227548 |
nonsense |
probably null |
|
Z1176:Dst
|
UTSW |
1 |
34204224 |
missense |
probably benign |
0.00 |
Z1176:Dst
|
UTSW |
1 |
34314289 |
missense |
probably damaging |
1.00 |
Z1177:Dst
|
UTSW |
1 |
34233599 |
missense |
probably damaging |
0.99 |
Z1177:Dst
|
UTSW |
1 |
34220313 |
missense |
probably benign |
0.15 |
|
Mode of Inheritance |
Autosomal Recessive |
Local Stock | Live Mice, gDNA |
MMRRC Submission |
038167-MU
|
Last Updated |
2019-09-04 9:47 PM
by Anne Murray
|
Record Created |
2014-11-21 4:37 PM
by Jeff SoRelle
|
Record Posted |
2015-03-03 |
Phenotypic Description |
The gobble phenotype was identified among N-Nitroso-N-ethylurea (ENU)-induced G3 mutants of pedigree R1395, some of which had an ataxic gait (Figure 1). The mice had reduced body weights compared to wild-type mice (Figure 2) and one was noted to make a constant clucking sound.
|
Nature of Mutation |
Whole exome HiSeq sequencing of the G1 grandsire identified 66 mutations. The neurological and body weight phenotypes were linked to a mutation in Dst: a T to C transition at base pair 34,165,155 (v38) on chromosome 1, or base pair 256,949 in the GenBank genomic region NC_000067 within the donor splice site of intron 19 in the longest isoform (i.e., DST-b1; NM_134448). The strongest association was found with a recessive model of linkage to the body weight, wherein two variant homozygotes departed phenotypically from 15 homozygous reference mice and 21 heterozygous mice with a P value of 5.369 x 10-5 (Figure 3). The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in an in-frame skipping of the 96-base pair exon 19 (out of 98 total exons). Exon 19 encodes amino acids 778-809 in the DST-b1 protein.
<--exon 18 <--exon 19 intron 19--> exon 20--> <--exon 98
256211 ……CGCTTGACCATCGAG ……TCTGCCTATTTCGAG gtacgtcggtagagtcaca…… TTTTTCAATGATGCC…… ……AAGTCTTCGAAGAGATAG
773 ……-R--L--T--I--E- ……-S--A--Y--F--E- -F--F--N--D--A-…… ……-K--S--S--K--R--*-
correct deleted correct
|
Genomic numbering corresponds to NC_000067. The donor splice site of intron 19, which is destroyed by the gobble mutation, is indicated in blue lettering and the mutated nucleotide is indicated in red. Alternatively, a cryptic splice site in exon 19 may be used that would result in a 43-nucleotide deletion in exon 19. Use of a cryptic site would lead to a frame-shift beginning after amino acid 794 of the coded protein and premature termination after the inclusion of 12 aberrant amino acids.
<--exon 18 <--exon 19--> intron 19--> exon 20-->
256211 ……CGCTTGACCATCGAG GCGTACAGAGCGGCC……TCTGCCTATTTCGAG gtacgtcggtagagtcaca…… TTTTTCAATGATGCCAAAGAAGCCACTGATTACCTAA
773 ……-R--L--T--I--E- -A--Y--R--A--A-……-S--A--Y--F--E- --F--S--M--M--P--K--K--P--L--N--T--*
correct correct deleted aberrant
|
Genomic numbering corresponds to NC_000067. The donor splice site of intron 19, which is destroyed by the gobble mutation, is indicated in blue lettering and the mutated nucleotide is indicated in red.
|
Illustration of Mutations in
Gene & Protein |
|
---|
Protein Prediction |
Dst encodes dystonin (DST) [alternatively, bullous pemphigoid antigen 1 (Bpag1)] (1). DST is a member of the plakin family that also includes envoplakin, periplakin, desmoplakin, plectin, epiplakin and microtubule–actin cross-linking factor (MACF) [(1); reviewed in (2)]. Each of the plakin family of proteins, with the exception of epiplakin, has an N-terminal plakin domain as well as different combinations of structural domains including an actin-binding domain (ABD), a spectrin-repeat (SR)-containing rod domain, and a microtubule-binding domain (MTBD) (3). The plakin domain in DST is comprised of two pairs of SRs separated by a putative Src-homology-3 (SH3) domain; the plakin domain also contains a nuclear localization signal (4;5). The epithelial isoform of DST (DST-e) has the plakin domain, rod domain, and a C-terminal intermediate filament-binding domain/plakin-repeat domain (IFBD/PRD2) only (6). The SRs within the rod domain are three-helix bundles that comprise a coiled-coil. SRs often serve a structural role by functioning as a spacer domain between the termini of proteins (7). In the costamere of muscle fibers, the SRs of DST confer flexibility to the protein (8). Several structural and signaling proteins interact with DST through the SR domain (9). For example, the SR domain of the neuronal isoform of DST (DST-a1) binds dynactin p150Glued to mediate proper retrograde axonal transport (10). The MTBD domain in DST-a1 mediates the ability of DST to coalign with microtubules throughout the cytoplasm (11). The GAR/GAS2 domain binds to and stabilizes microtubules, while the GSR region bundles microtubules (12). An SxIP motif at the C-terminus of DST-a/b forms a complex with end-binding protein 1 (EB1), a component of the microtubule plus end complex (13). DST-b1 differs from DST-a1 in that DST-b1 has a putative IFBD/PRD2 following the plakin domain Dst encodes tissue-specific DST isoforms, including neuronal DST-a, muscle isoforms (DST-b), and the epithelial DST-e [Figure 4; (1;14-16); reviewed in (2)]. Alternative splicing of 5’ exons in Dst results in three tissue-specific isoforms in muscle (i.e., DST-b1/2/3) and neurons (i.e., DST-a1/2/3) [(11;14;17); reviewed in (2)]. The DST-a1 and DST-b1 isoforms share similar domains including the ABD, plakin, and rod domains as well as the EF hand calcium-binding motifs (8) and a growth arrest specific protein 2 (GAS2) related (GAR) domain that contains a MTBD and a Gly-Ser-Arg (GSR) repeat region (6;14). Each DST isoform has different domains upstream of the ABD (1;18). The unique N-terminal domains found in the DST-a isoforms facilitates cell-specific localization and function (17;19-21). DST-a2/b2 have an N-terminal transmembrane domain upstream of tandem calponin-homology (CH)1/CH2 domains (11). The transmembrane domain of the DST-a2 isoform directs the isoform to the membranes of the perinuclear region [reviewed in (2)]. CH domains fold into four linked α-helices (22). The CH1 domain alone can colocalize with stress fibers, but not as efficiently as the CH1 and CH2 domains together; however, the CH2 domain alone does not associate with actin stress fibers [reviewed in (2)]. The DST-a1/b1 isoforms lack N-terminal transmembrane domains, but have CH1 and CH2 domains [reviewed in (2)]. The DST-a3/b3 isoforms do not have a transmembrane domain or a CH1 domain, but have a myristoylation motif followed by one CH2 domain [reviewed in (2)]. DST-3a can also be palmitoylated at its N-terminus. The myristoylation and/or palmitoylation promotes membrane binding (17). The gobble mutation is predicted to affect all of the DST isoforms. The affect of the mutation on DSTgobble expression is unknown.
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Expression/Localization | The expression of the DST isoforms is tissue-specific, although lower levels of each isoform can be amplified from nondominant tissues (14). In the adult brain, DST-a1 and DST-a2 transcripts can be detected, but only small amounts of DST-a3 transcripts. DST-3a is the major isoform in the lung, while DST-a2 and DST-a3 are the major isoforms in the kidney and testis. All of the DST-a isoforms were expressed in the liver, spleen, and ovary (17). DST-a1 localizes to the cytoplasm and at the plasma membrane, while DST-a2 localized with actin stress fibers and actin filaments at the nuclear and perinuclear membranes [(5;11;17); reviewed in (2)]. The localization of DST-a3 is unknown.DST-a is expressed as early as embryonic day (E) 9.5 in the developing spinal cord and brain (14;23). During embryogenesis, DST-a is highly expressed in the ventral horn. At E17.5, the levels of DST-a are reduced in the embryonic motor neurons compared to levels in the dorsal root ganglion, but DST-a levels persist in postnatal motor neurons (24). At postnatal day (P)10, DST-a is expressed in the cortex, dentate gyrus, and hippocampal regions (CA1-CA3), in the thalamic nuclei, and in the granular and Purkinje cell layers of the cerebellum (23;25). In the adult, DST-a is expressed in the soma, axons, and preterminal branches of the peripheral and central nervous system (25;26). Dst-a is expressed in various cranial nerves including I (optic), II (olfactory), V (trigeminal), VII (facial), VIII (vestibulocochlear), IX (glossopharyngeal), and X (Vagus) [reviewed in (2)]. DST-b is expressed in heart and skeletal muscle (14). DST-b localizes to Z-discs, intercalated discs, and sarcolemma (27). DST-e is expressed in the epidermis and mucosal epithelia of the digestive tract (14;25;26). DST-e has slight expression in the testis, ovary, and lung (17). Within epithelial cells, DST-e localizes to hemidesmosomes (5).
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Background |
Interactions within the cytoskeletal network are essential for cell motility, growth cone guidance, cellular division, chromosomal separation, and wound healing [reviewed in (2)]. Proteins in the plakin family are scaffold proteins that link intermediate filaments to desmosomes and hemidesmosomes to regulate cytoskeletal dynamics, cell migration, differentiation, and stress responses (17;28;29). The individual functions of the DST isoforms are discussed, below. DST-a
The DST-a isoforms bind actin filaments, intermediate filaments, and microtubules to maintain cytoskeletal integrity [Figure 5; (26;30;31)]. DST-a is essential for the development and survival of neurons in mice and humans (23;32;33). DST-a1 and DST-a3, which localize to the plasma membrane are proposed to function in the invagination process of immature vesicles and the subsequent trafficking and fusion of the vesicles with endosomes [reviewed in (2)]. The localization of DST-a2 to the perinuclear region of the cell as well as its association with the actin cytoskeleton indicates that DST-a2 may regulate nucleus, endoplasmic reticulum (ER), and/or Golgi integrity (11). In addition, DST-a2 may regulate the development and transport of membrane compartments in the secretory pathway through an interaction with clathrin and microtubule-association protein 1B (MAP1B) (19). Silencing of DST-a2 in immortalized neuronal cells disrupts ER homeostasis (20). In Dst mutant mice (Dst27 and DstTg4), organelle integrity is lost leading to ER-mediated apoptosis of sensory neurons (20). In addition, the ER was dilated and ER stress proteins were activated (20). DST-a2 is required to maintain the structural integrity of the Golgi through an association with microtubules near the centrosome and the dynamics of the secretory pathway (19). Loss of DST-a2 expression resulted in defective anterograde transport and secretion along with dilation of the Golgi (19). DST-a2 and MAP1B also maintain the perinuclear acetylation of α-tubulin, a modification that is required for Golgi organization (19). Homozygous mutations in DST that cause loss of DST-a1/2/3 expression have been documented to cause hereditary sensory and autonomic neuropathy type 6 (HSAN6) (32;34). Patients with HSAN6 exhibit limb contractures and dysautonomia and the condition is ultimately fatal (34). A mutation within the MTBD of the DST-a/b isoforms leads to sensory autonomic neuropathy with dysautonomia, severe psychomotor retardation, and early death (32). A translocation disrupting the DST-a and DST-b isoforms can also cause encephalopathy, motor and mental retardation, and visual impairment (35).
DST-B
DST-b associates with microfilaments, intermediate filaments and microtubules in the muscle (14). DST-b is proposed to function in the maintenance of muscle cell architecture by crosslinking actin with desmin filaments (36). DST-b is not required for myogenic differentiation (37).The cytoarchitecture of the skeletal muscle in Dst knockout (Dst-/-) mice is disorganized; terminally differentiated myotubes contained myofibrils that were imcompletely assembled (36). In addition, there was an abnormal distribution of mitochondria in the skeletal muscle of the Dst-/- mice (36). Loss of DST-b function may contribute to the muscle weakness observed in Dst-/- mice (36). DST-e
DST-e localizes to hemidesmosomes and binds keratin intermediate filaments in keratinocytes in the epidermis, functioning as an intracellular bridge and maintaining cellular integrity (14;38;39). DST-e also functions in hemidesmosome maturation and the suppression of focal adhesion dynamics (40). DST-e loss-of-function mutations result in defects in keratinocyte morphology, adhesion, and migration (40). The observed change in keratinocyte migration was found to be due to alterations in surface β4 integrin and active β1 integrin stability at adhesion sites. DST-e is as an autoantigen in bullous pemphigoid, an autoimmune subepidermal blistering disease (38;41;42). Mutations affecting the DST-e isoform lead to epidermolysis bullosa simplex with fragility of basal keratinocytes and skin blistering (41;43). Dst-/- mice with a targeted mutation in the 5’ end of the coding region have more fragile skin than wild-type mice and exhibit microscopic skin lesions (18).
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Putative Mechanism | Several Dst mouse models have been characterized and all exhibit variability in phentoypic severity and survival. It is unclear whether phenotypic differences were due to the genetic backgrounds of the mutant mice or due to the impact of the mutation on the expression pattern of the DST-a isoforms. Collectively, the phenotype of mice with mutations in Dst is referred to as dystonia musculorum (dt) and is characterized by sensory neuron degeneration, ataxia, tremor, muscle weakness, low body weights, and reduced numbers of motor neurons at approximately 2 weeks after birth (44-48). The neuronal phenotype in the Dstdt mice progresses quickly with mice exhibiting uncoordinated limb movement, and writhing and twisting of the trunk as well as hyperflexion and pronation of foot paws (44;45). Dt affects the function of cranial nerves V, VII, IX, and X; the function of cranial nerves I, II, and VIII are maintained leading to intact hearing and vision (23;24). Skeletal muscle in the dt mice were weak and the cytoarchitecture disorganized (36). Dt mutant mice exhibit lethality at approximately P14-21. Increased expression of DST-a2 in the neural tissues of the DstTg4/Tg4 mouse model reduced the severity of the disease including a progressive weight gain between P16 and P52 and increased the life span of the mice to a mean of P55 due to improved microtubule and organelle integrity within proprioceptive sensory neurons and subsequent delayed apoptosis of the sensory neurons (34). The dt phenotype is due to degeneration in large and medium-sized proprioceptive primary sensory afferents of the dorsal root ganglion and cranial nerves (31;46). The microtubule network is disorganized and the cytoplasmic organelles accumulate within axonal swellings; axonal swelling were observed in sensory nerve fibers as early as E15.5 (49). In the DstJ/DstJ model, γ-aminobutyric acid (GABA) synthesis was diminished in striatum and substantia nigra with a concomitant decrease of glutamate, aspartate, and GABA in the cerebellar vermis (50). In the Dst27J mouse model, orthograde and retrograde axonal transport of acetylcholinesterase was affected in the sciatic nerves and the number of alpha motor neurons and motor axons of the L1 spinal cord are reduced (51). The phenotype observed in the gobble mice indicates a loss-of-function for DST-a/bgobble. Skin lesions were not observed in gobble, indicating that expression of DST-e may be functional.
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Primers |
PCR Primer
gobble_pcr_F: TCCTTAATGCACACAGAGCGCC
gobble_pcr_R: TTTCCCCTCTAGGATGAGACAGCAG
Sequencing Primer
gobble_seq_F: AGGCCAGGAATTGCACCTTC
gobble_seq_R: TAGGATGAGACAGCAGCACTTAG
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Genotyping | PCR program 1) 94°C 2:00 2) 94°C 0:30 3) 55°C 0:30 4) 72°C 1:00 5) repeat steps (2-4) 40x 6) 72°C 10:00 7) 4°C hold
The following sequence of 486 nucleotides is amplified (chromosome 1, + strand):
1 tccttaatgc acacagagcg ccccctcctg ggaggccagg aattgcacct tctacataaa 61 caggtttcac aattcatgaa ttagatgtgc tttctacagt attttttctt tatgaaagat 121 aaatacgctg cattaaataa gaagccctca aatagatgag tgttttaaat attattatat 181 attaaatgta ataattccaa tgatctgccc agctttcact gtgtctcctc cctcaggcgt 241 acagagcggc catgcagaca cagtggagct ggatcctaca gctgtgccag tgcgtggagc 301 agcacattca ggagaactct gcctatttcg aggtacgtcg gtagagtcac agcgtgaaca 361 cacagcattg ctgtttgggc cgaggtgcag aactaccaca aagaaacaat gtgcagagca 421 cacggggagt aagccagtac gttcttttca ggacctaagt gctgctgtct catcctagag 481 gggaaa
Primer binding sites are underlined and the sequencing primers are highlighted; the mutated nucleotide is shown in red. |
References |
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33. Goryunov, D., He, C. Z., Lin, C. S., Leung, C. L., and Liem, R. K. (2010) Nervous-Tissue-Specific Elimination of Microtubule-Actin Crosslinking Factor 1a Results in Multiple Developmental Defects in the Mouse Brain. Mol Cell Neurosci. 44, 1-14.
34. Ferrier, A., Sato, T., De Repentigny, Y., Gibeault, S., Bhanot, K., O'Meara, R. W., Lynch-Godrei, A., Kornfeld, S. F., Young, K. G., and Kothary, R. (2014) Transgenic Expression of Neuronal Dystonin Isoform 2 Partially Rescues the Disease Phenotype of the Dystonia Musculorum Mouse Model of Hereditary Sensory Autonomic Neuropathy VI. Hum Mol Genet. 23, 2694-2710.
35. Giorda, R., Cerritello, A., Bonaglia, M. C., Bova, S., Lanzi, G., Repetti, E., Giglio, S., Baschirotto, C., Pramparo, T., Avolio, L., Bragheri, R., Maraschio, P., and Zuffardi, O. (2004) Selective Disruption of Muscle and Brain-Specific BPAG1 Isoforms in a Girl with a 6;15 Translocation, Cognitive and Motor Delay, and Tracheo-Oesophageal Atresia. J Med Genet. 41, e71.
36. Dalpe, G., Mathieu, M., Comtois, A., Zhu, E., Wasiak, S., De Repentigny, Y., Leclerc, N., and Kothary, R. (1999) Dystonin-Deficient Mice Exhibit an Intrinsic Muscle Weakness and an Instability of Skeletal Muscle Cytoarchitecture. Dev Biol. 210, 367-380.
39. Mutasim, D. F., Takahashi, Y., Labib, R. S., Anhalt, G. J., Patel, H. P., and Diaz, L. A. (1985) A Pool of Bullous Pemphigoid Antigen(s) is Intracellular and Associated with the Basal Cell Cytoskeleton-Hemidesmosome Complex. J Invest Dermatol. 84, 47-53.
40. Michael, M., Begum, R., Fong, K., Pourreyron, C., South, A. P., McGrath, J. A., and Parsons, M. (2014) BPAG1-e Restricts Keratinocyte Migration through Control of Adhesion Stability. J Invest Dermatol. 134, 773-782.
41. Liu, L., Dopping-Hepenstal, P. J., Lovell, P. A., Michael, M., Horn, H., Fong, K., Lai-Cheong, J. E., Mellerio, J. E., Parsons, M., and McGrath, J. A. (2012) Autosomal Recessive Epidermolysis Bullosa Simplex due to Loss of BPAG1-e Expression. J Invest Dermatol. 132, 742-744.
43. Groves, R. W., Liu, L., Dopping-Hepenstal, P. J., Markus, H. S., Lovell, P. A., Ozoemena, L., Lai-Cheong, J. E., Gawler, J., Owaribe, K., Hashimoto, T., Mellerio, J. E., Mee, J. B., and McGrath, J. A. (2010) A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex. J Invest Dermatol. 130, 1551-1557.
51. De Repentigny, Y., Ferrier, A., Ryan, S. D., Sato, T., and Kothary, R. (2011) Motor Unit Abnormalities in Dystonia Musculorum Mice. PLoS One. 6, e21093.
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Science Writers | Anne Murray |
Illustrators | Peter Jurek |
Authors | Jeff SoRelle, William McAlpine, Zhe Chen, Noelle Hutchins |