Phenotypic Mutation 'Phelps' (pdf version)
Allele | Phelps |
Mutation Type |
splice site
(9 bp from exon)
|
Chromosome | 1 |
Coordinate | 34,262,876 bp (GRCm39) |
Base Change | T ⇒ A (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 | No |
Amino Acid Change |
|
Institutional Source | Beutler Lab |
Gene Model |
predicted gene model for protein(s):
[ENSMUSP00000095392 †]
[ENSMUSP00000095393 †]
[ENSMUSP00000110756 †]
[ENSMUSP00000138308 †]
[ENSMUSP00000141127 †]
† 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: 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: 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
|
Meta Mutation Damage Score |
0.9755 |
Is this an essential gene? |
Possibly nonessential (E-score: 0.342) |
Phenotypic Category |
Unknown |
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 |
|
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 |
Unknown |
Local Stock | |
MMRRC Submission |
038169-MU
|
Last Updated |
2019-10-23 1:57 PM
by Anne Murray
|
Record Created |
2014-09-24 2:37 PM
by Carlos Reyna
|
Record Posted |
2015-03-03 |
Phenotypic Description |
The phelps phenotype was identified among N-Nitroso-N-ethylurea (ENU)-mutagenized G3 mice of the pedigree R1674, some of which showed an ataxic gait and an inability to walk (Figure 1).
|
Nature of Mutation | Whole exome HiSeq sequencing of the G1 grandsire identified 96 mutations. A mutation in Dst was presumed to be causative because the phelps phenotype mirrored those of other Dst alleles (see gobble, tinsel, and MGI). The Dst mutation is a T to A transversion at base pair 34,223,795 (v38) on chromosome 1, or base pair 315,589 in the GenBank genomic region NC_000067 affecting the acceptor splice site of intron 54 in the longest isoform (NM_134448). The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 200-base pair exon 55 (out of 98 total exons) causing a frame-shift, coding of 13 aberrant amino acids followed by a premature stop codon after amino acid 4,546.
<--exon 54 <--intron 54 exon 55--> exon 56-->
311304 GCACTGGCAGAGATGG……tcctttttcttgttttcag ACACTAAGTGGCAA……ATTCTGCTGCAAGA……GAAACCTCAGTATGA
4529 -A--L--A--E--M--…… D--T--K--W--Q-……D--S--A--A--R-……-E--S--S--V--* 4546
correct deleted aberrant
|
Genomic numbering corresponds to NC_000067. The acceptor splice site of intron 54, which is affected by the phelps 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), 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 phelps mutation affects the SR-containing rod domain and is predicted to result in the loss of the C-terminus of DST including several of the SR domains, the EF hand calcium-binding domain, and the MTBD in the DST-a and DST-b isoforms only. 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 phelps mice indicates that the mutation results in loss of function in the DST protein(s). The expression and localization of DSTphelps has not been examined.
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Primers |
PCR Primer
Phelps_pcr_F: AGCGACCGGCATCTTATTATGGCG
Phelps_pcr_R: CATGTTTGGGTCAATGGACAAGGGG
Sequencing Primer
Phelps_seq_F: gagatgtagcttagggtcatgc
Phelps_seq_R: GACAAGGGGCCGAGCAC
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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 agcgaccggc atcttattat ggcgggctca tgatctaacg tgtagtccat gtatcatctc 61 acacaagtac ttcttgtaag ttggaattaa taggaagggg ggttaccaga tgtgaacaag 121 ctagagatgt agcttagggt catgcttgcc tagtaccaag gccctaggtt tacattctaa 181 caaagggaac aagaggaatg ccatctatta tgtatcgttt gaatacatag ttacagtttt 241 ctgatggtga tattaaatga agaaaaaaag aaaagaaaac aaatagcagc ttggtccttt 301 ttcttgtttt cagacactaa gtggcaagag ctcaaccagt tgaccatgga caggcaacaa 361 aagctggaag agtcctccaa taatctaacc cagttccaga ccacagaggc ccagttaaaa 421 cagtggctca tggagaagga gctgatggtc agcgtgctcg gccccttgtc cattgaccca 481 aacatg
Primer binding sites are underlined and the sequencing primers are highlighted; the mutated nucleotide is shown in red. |
References |
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 | Carlos Reyna
Tiana Purrington |