Phenotypic Mutation 'tinsel' (pdf version)
Allele | tinsel |
Mutation Type |
missense
|
Chromosome | 1 |
Coordinate | 34,203,248 bp (GRCm39) |
Base Change | A ⇒ G (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 |
Glutamic Acid changed to Glycine
|
Institutional Source | Beutler Lab |
Gene Model |
predicted gene model for protein(s):
[ENSMUSP00000095392]
[ENSMUSP00000095393]
[ENSMUSP00000110756]
[ENSMUSP00000138308]
[ENSMUSP00000139888]
[ENSMUSP00000140560]
[ENSMUSP00000141127]
[ENSMUSP00000138376]
|
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 AA Change: E719G
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 damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000097785)
|
SMART Domains |
Protein: ENSMUSP00000095393 Gene: ENSMUSG00000026131 AA Change: E719G
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 damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000097786)
|
SMART Domains |
Protein: ENSMUSP00000110756 Gene: ENSMUSG00000026131 AA Change: E719G
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 damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000115104)
|
SMART Domains |
Protein: ENSMUSP00000138308 Gene: ENSMUSG00000026131 AA Change: E897G
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 damaging
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
(Using ENSMUST00000183034)
|
SMART Domains |
Protein: ENSMUSP00000139888 Gene: ENSMUSG00000026131 AA Change: E393G
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 damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000185897)
|
SMART Domains |
Protein: ENSMUSP00000140560 Gene: ENSMUSG00000026131 AA Change: E759G
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 damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000187486)
|
SMART Domains |
Protein: ENSMUSP00000141127 Gene: ENSMUSG00000026131 AA Change: E393G
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 damaging
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
(Using ENSMUST00000185269)
|
SMART Domains |
Protein: ENSMUSP00000138376 Gene: ENSMUSG00000026131 AA Change: E393G
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 damaging
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
(Using ENSMUST00000183302)
|
Meta Mutation Damage Score |
0.5735 |
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 |
|
gobble
|
UTSW |
1 |
34204236 |
critical splice donor site |
probably null |
|
Phelps
|
UTSW |
1 |
34262876 |
splice site |
probably null |
|
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 | Sperm, gDNA |
MMRRC Submission |
038168-MU
|
Last Updated |
2015-03-03 4:57 PM
by Anne Murray
|
Record Created |
2014-12-15 4:28 PM
by Jeff SoRelle
|
Record Posted |
2015-03-03 |
Phenotypic Description |
The tinsel phenotype was identified among N-Nitroso-N-ethylurea (ENU)-mutagenized G3 mice of the pedigree R1077, some of which walked with their head horizontally tilted at approximately 30 degrees to the right constantly (Figure 1). When walking, the tinsel mice appeared to follow the perimeter of the cage only making right turns. No tremor, head tossing, or ataxia was observed.
|
Nature of Mutation | Whole exome HiSeq sequencing of the G1 grandsire identified 41 mutations. A mutation in Dst was presumed to be causative because the tinsel phenotype was similar to other Dst alleles (see gobble, phelps, and MGI). The mutation in Dst is an A to G transition at base pair 34,164,167 (v38) on chromosome 1, or base pair 255,961 in the GenBank genomic region NC_000067 encoding Dst. The mutation corresponds to residue 2,156 in the muscle-specific Dst isoform (Dst-b1; NM_134448) within exon 17 of 98 total exons residue 2,156 in the neuron-specific Dst isoform (Dst-a1; NM_133833) within exon 17 of 93 total exons, and residue 1,178 in the epithelial-specific Dst isoform (Dst-e; NM_010081) within exon 7 of 24 total exons.
255945 TGGTTGAATGAAAAGGAGGAGTCGGAAGTTGCT
714 -W--L--N--E--K--E--E--S--E--V--A- (Dst-b1)
714 -W--L--N--E--K--E--E--S--E--V--A- (Dst-a1)
388 -W--L--N--E--K--E--E--S--E--V--A- (Dst-e)
|
Genomic numbering corresponds to NC_000067. The mutated nucleotide is indicated in red. The mutation results in a glutamic acid (E) to glycine (G) substitution at position 719 (E719G) in the DST-b1 protein, a glutamic acid (E) to glycine (G) substitution at position 419 (E419G) in the DST-a1 protein, and a glutamic acid (E) to glycine (G) substitution at position 393 (E393G) in the DST-e protein, and is strongly predicted by Polyphen-2 to cause loss of function (score = 1.00).
|
Illustration of Mutations in
Gene & Protein |
|
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Protein Prediction |
Dst encodes dystonin (DST) [alternatively, bullous pemphigoid antigen 1 (Bpag1), a member of the plakin family of proteins [(1); Figure 2]. DST 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). Dst encodes three tissue-specific DST isoforms, including a neuronal isoform (DST-a), a muscle isoform (DST-b), and an epithelial isoform (DST-e) [(1-4); reviewed in (5)]. DST-e has the plakin domain, rod domain, and a C-terminal intermediate filament-binding domain/plakin-repeat domain 2 (IFBD/PRD2) only (6). The DST-a and DST-b isoforms share similar domains including the ABD, plakin, and rod domains as well as the EF hand calcium-binding motifs and a growth arrest specific protein 2 (GAS2) related (GAR) domain that contains a MTBD and a Gly-Ser-Arg (GSR) repeat region (2;6). DST-b differs from DST-a in that DST-b has a putative IFBD/PRD2 domain following the plakin domain. 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) [(2;7;8); reviewed in (5)]. Each DST isoform has different domains upstream of the ABD (1;9). The unique N-terminal domains in the DST-a isoforms facilitate cell-specific localization and function (8;10-12). DST-a2/b2 have an N-terminal transmembrane domain upstream of tandem calponin-homology (CH)1/CH2 domains (7). The DST-a1/b1 isoforms lack N-terminal transmembrane domains, but have CH1 and CH2 domains [reviewed in (5)]. 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 (5)]. The tinsel mutation is within the plakin domain of all of the DST isoforms. Please see the record gobble for more information about Dst.
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Putative Mechanism | 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 (8;13). 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) (14;15). Patients with HSAN6 exhibit limb contractures and dysautonomia; HSAN6 is ultimately fatal (15). A mutation within the MTBD of the DST-a/b isoforms leads to sensory autonomic neuropathy with dysautonomia, severe psychomotor retardation, and early death (14). 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 (16-19). The phenotype of the tinsel mice indicates that the mutation results in loss of function in the DST protein(s). However, the tinsel mice do not exhibit as severe of a neurological phenotype as dt mice and do not exhibit skin lesions indicating that some DST function remains.
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Primers |
PCR Primer
tinsel_pcr_F: AGCGCCTCTGAAACTCTCTTACA
tinsel_pcr_R: AAGCATCAGGAAGCGTATCAGAA
Sequencing Primer
tinsel_seq_F: GTTGCACAGATTAGAGAGTC
tinsel_seq_R: AAATACGGCAAGCTCTTCAG
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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 410 nucleotides is amplified (chromosome 1, + strand):
1 AGCGCCTCTG AAACTCTCTT ACACAGATAA GTTGCACAGA TTAGAGAGTC AGTACGCTAA 61 ACTCTTGGTA AGTATTTTCT TTTTCTTTTT AATTTGTTTG CTTTAAGTGT TCTGTTTTAT 121 GCCTGTTGCG AAAGGATCTG ACTCTTACAA TGGGTTTTCC TTAAAAAGAA TACATCCAGA 181 AATCAGGAGC GACATCTCGA TACACTCCAC AACTTTGTAA CCCGCGCAAC TAACGAGCTT 241 ATCTGGTTGA ATGAAAAGGA GGAGTCGGAA GTTGCTTATG ATTGGAGTGA GAGAAACAGC 301 AGTGTCGCCC GGAAGAAAAG CTACCACGCG GTGAGTCGGC TGCGCTTGGC TCAGGTGCCA 361 GCGCTGGACC TGAAGAGCTT GCCGTATTTC TGATACGCTT CCTGATGCTT
Primer binding sites are underlined and the sequencing primers are highlighted; the mutated nucleotide is shown in red. |
References | 1. Brown, A., Dalpe, G., Mathieu, M., and Kothary, R. (1995) Cloning and Characterization of the Neural Isoforms of Human Dystonin. Genomics. 29, 777-780.
6. Pool, M., Boudreau Lariviere, C., Bernier, G., Young, K. G., and Kothary, R. (2005) Genetic Alterations at the Bpag1 Locus in Dt Mice and their Impact on Transcript Expression. Mamm Genome. 16, 909-917.
9. Guo, L., Degenstein, L., Dowling, J., Yu, Q. C., Wollmann, R., Perman, B., and Fuchs, E. (1995) Gene Targeting of BPAG1: Abnormalities in Mechanical Strength and Cell Migration in Stratified Epithelia and Neurologic Degeneration. Cell. 81, 233-243.
11. Ryan, S. D., Ferrier, A., Sato, T., O'Meara, R. W., De Repentigny, Y., Jiang, S. X., Hou, S. T., and Kothary, R. (2012) Neuronal Dystonin Isoform 2 is a Mediator of Endoplasmic Reticulum Structure and Function. Mol Biol Cell. 23, 553-566.
14. Edvardson, S., Cinnamon, Y., Jalas, C., Shaag, A., Maayan, C., Axelrod, F. B., and Elpeleg, O. (2012) Hereditary Sensory Autonomic Neuropathy Caused by a Mutation in Dystonin. Ann Neurol. 71, 569-572.
15. 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.
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Science Writers | Anne Murray |
Illustrators | Peter Jurek |
Authors | Jeff SoRelle, Zhao Zhang, Bruce Beutler |