Incidental Mutation 'R4545:Dst'
| ID |
333700 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dst
|
| Ensembl Gene |
ENSMUSG00000026131 |
| Gene Name |
dystonin |
| Synonyms |
BPAG1-n, ah, athetoid, bullous pemphigoid antigen 1, A830042E19Rik, Macf2, nmf339, Bpag1, nmf203, bullous pemphigoid antigen 1, BPAG1, Bpag, 2310001O04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.217)
|
| Stock # |
R4545 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
33908225-34308661 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 34188738 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1982
(D1982G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000097785]
[ENSMUST00000097786]
[ENSMUST00000115104]
[ENSMUST00000183034]
[ENSMUST00000183302]
[ENSMUST00000185269]
[ENSMUST00000185897]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000097785
AA Change: D1804G
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000095392
Gene: ENSMUSG00000026131
AA Change: D1804G
| 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 benign
Transcript: ENSMUST00000097786
|
| 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 |
possibly damaging
Transcript: ENSMUST00000115104
AA Change: D1804G
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110756
Gene: ENSMUSG00000026131
AA Change: D1804G
| 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
Transcript: ENSMUST00000183034
AA Change: D1982G
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000138308
Gene: ENSMUSG00000026131
AA Change: D1982G
| 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 benign
Transcript: ENSMUST00000183302
|
| SMART Domains |
Protein: ENSMUSP00000138376
Gene: ENSMUSG00000026131
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2ODU|A
|
2 |
95 |
4e-7 |
PDB |
|
low complexity region
|
136 |
161 |
N/A |
INTRINSIC |
|
SPEC
|
218 |
315 |
5.4e-11 |
SMART |
|
SPEC
|
318 |
418 |
1.8e-13 |
SMART |
|
Blast:SPEC
|
425 |
589 |
1e-73 |
BLAST |
|
coiled coil region
|
711 |
748 |
N/A |
INTRINSIC |
|
Blast:SPEC
|
792 |
901 |
4e-63 |
BLAST |
|
SPEC
|
908 |
1037 |
2.6e-2 |
SMART |
|
coiled coil region
|
1071 |
1805 |
N/A |
INTRINSIC |
|
PLEC
|
2061 |
2098 |
1.6e-6 |
SMART |
|
PLEC
|
2099 |
2136 |
4.4e-10 |
SMART |
|
PLEC
|
2137 |
2172 |
7.8e-5 |
SMART |
|
PLEC
|
2173 |
2210 |
6.8e-8 |
SMART |
|
PLEC
|
2252 |
2297 |
2.7e-3 |
SMART |
|
PLEC
|
2298 |
2348 |
3.7e-1 |
SMART |
|
PLEC
|
2368 |
2407 |
5.5e-6 |
SMART |
|
PLEC
|
2408 |
2445 |
1.5e-14 |
SMART |
|
PLEC
|
2446 |
2483 |
1.1e-10 |
SMART |
|
PLEC
|
2484 |
2521 |
1.3e-7 |
SMART |
|
PLEC
|
2522 |
2559 |
5e-1 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185269
|
| 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 |
possibly damaging
Transcript: ENSMUST00000185897
AA Change: D1479G
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000139888
Gene: ENSMUSG00000026131
AA Change: D1479G
| 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 |
|
| Meta Mutation Damage Score |
0.0738 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
98% (41/42) |
| MGI Phenotype |
PHENOTYPE: Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c20 |
A |
C |
13: 4,507,844 |
V201G |
probably damaging |
Het |
| Atf7 |
A |
G |
15: 102,534,327 |
V449A |
probably benign |
Het |
| Ccr1 |
G |
A |
9: 123,964,400 |
A31V |
probably benign |
Het |
| Chrna6 |
A |
T |
8: 27,406,683 |
S389T |
probably benign |
Het |
| Clic6 |
C |
T |
16: 92,492,157 |
|
probably benign |
Het |
| Cmya5 |
G |
A |
13: 93,091,918 |
R2221* |
probably null |
Het |
| Coq8b |
G |
T |
7: 27,233,505 |
C13F |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,888,629 |
L1216Q |
possibly damaging |
Het |
| Decr1 |
C |
A |
4: 15,930,979 |
V118F |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 119,128,078 |
I796F |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 151,979,941 |
D516E |
probably damaging |
Het |
| Dock8 |
G |
A |
19: 25,188,358 |
V1869M |
probably damaging |
Het |
| Gm11808 |
C |
T |
4: 3,973,244 |
R106H |
probably benign |
Het |
| Gnptab |
G |
A |
10: 88,414,595 |
D190N |
probably benign |
Het |
| Golga4 |
A |
G |
9: 118,556,845 |
K22E |
probably damaging |
Het |
| Hecw2 |
T |
C |
1: 53,813,222 |
*1579W |
probably null |
Het |
| Ica1l |
A |
G |
1: 60,013,818 |
|
probably null |
Het |
| Ift122 |
T |
A |
6: 115,890,588 |
L433Q |
probably damaging |
Het |
| Iqgap1 |
T |
C |
7: 80,762,567 |
|
probably null |
Het |
| Klra13-ps |
T |
C |
6: 130,291,269 |
|
noncoding transcript |
Het |
| Mndal |
A |
T |
1: 173,875,664 |
Y58* |
probably null |
Het |
| Mvb12b |
G |
C |
2: 33,827,700 |
P172R |
possibly damaging |
Het |
| Ncapg |
T |
C |
5: 45,671,212 |
F102L |
probably damaging |
Het |
| Olfr1447 |
T |
A |
19: 12,901,268 |
K171* |
probably null |
Het |
| Olfr235 |
T |
C |
19: 12,268,824 |
V198A |
possibly damaging |
Het |
| Olfr390 |
T |
C |
11: 73,787,166 |
V76A |
probably damaging |
Het |
| Pde8a |
A |
T |
7: 81,328,099 |
R713S |
probably damaging |
Het |
| Rbks |
T |
C |
5: 31,624,568 |
N296S |
probably benign |
Het |
| Sema3c |
G |
A |
5: 17,694,772 |
V421I |
probably benign |
Het |
| Tm9sf1 |
A |
G |
14: 55,638,108 |
V393A |
possibly damaging |
Het |
| Tubgcp2 |
G |
A |
7: 139,996,071 |
P893L |
possibly damaging |
Het |
| Vnn3 |
G |
A |
10: 23,856,326 |
R158H |
probably benign |
Het |
| Zfa-ps |
G |
T |
10: 52,544,936 |
|
noncoding transcript |
Het |
| Zfp414 |
T |
C |
17: 33,631,648 |
|
probably benign |
Het |
| Zfp810 |
G |
A |
9: 22,278,745 |
T289I |
probably damaging |
Het |
| Zfp819 |
G |
T |
7: 43,617,785 |
R488L |
probably damaging |
Het |
| Zfp942 |
C |
T |
17: 21,928,304 |
G448D |
probably benign |
Het |
| Zscan12 |
A |
G |
13: 21,366,705 |
K165E |
possibly damaging |
Het |
|
| Other mutations in Dst |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00233:Dst
|
APN |
1 |
34251839 |
missense |
probably damaging |
1.00 |
|
IGL00309:Dst
|
APN |
1 |
34160652 |
missense |
probably damaging |
1.00 |
|
IGL00334:Dst
|
APN |
1 |
34166292 |
missense |
probably damaging |
1.00 |
|
IGL00470:Dst
|
APN |
1 |
34188962 |
missense |
probably damaging |
1.00 |
|
IGL00481:Dst
|
APN |
1 |
34169329 |
splice site |
probably benign |
|
|
IGL00499:Dst
|
APN |
1 |
34290423 |
missense |
probably damaging |
0.99 |
|
IGL00803:Dst
|
APN |
1 |
34164124 |
missense |
possibly damaging |
0.89 |
|
IGL00850:Dst
|
APN |
1 |
34306624 |
missense |
probably damaging |
1.00 |
|
IGL00957:Dst
|
APN |
1 |
34228407 |
missense |
probably benign |
0.27 |
|
IGL00975:Dst
|
APN |
1 |
34188312 |
missense |
possibly damaging |
0.86 |
|
IGL00984:Dst
|
APN |
1 |
34256320 |
missense |
probably damaging |
1.00 |
|
IGL01284:Dst
|
APN |
1 |
34163928 |
missense |
probably damaging |
1.00 |
|
IGL01393:Dst
|
APN |
1 |
34167625 |
missense |
possibly damaging |
0.91 |
|
IGL01397:Dst
|
APN |
1 |
34257744 |
missense |
probably damaging |
1.00 |
|
IGL01399:Dst
|
APN |
1 |
34117517 |
missense |
probably benign |
0.41 |
|
IGL01412:Dst
|
APN |
1 |
34242620 |
missense |
probably benign |
0.21 |
|
IGL01527:Dst
|
APN |
1 |
34247653 |
missense |
probably damaging |
1.00 |
|
IGL01537:Dst
|
APN |
1 |
34275320 |
missense |
probably damaging |
1.00 |
|
IGL01618:Dst
|
APN |
1 |
34188909 |
nonsense |
probably null |
|
|
IGL01636:Dst
|
APN |
1 |
34215569 |
missense |
probably damaging |
1.00 |
|
IGL01642:Dst
|
APN |
1 |
34189389 |
missense |
probably damaging |
1.00 |
|
IGL01672:Dst
|
APN |
1 |
34225693 |
missense |
probably damaging |
1.00 |
|
IGL01685:Dst
|
APN |
1 |
34170452 |
missense |
probably damaging |
0.99 |
|
IGL01694:Dst
|
APN |
1 |
34188160 |
missense |
probably benign |
0.13 |
|
IGL01777:Dst
|
APN |
1 |
34199397 |
missense |
probably benign |
0.07 |
|
IGL01800:Dst
|
APN |
1 |
34262092 |
missense |
probably damaging |
1.00 |
|
IGL01811:Dst
|
APN |
1 |
34164092 |
missense |
probably damaging |
1.00 |
|
IGL01960:Dst
|
APN |
1 |
34290489 |
missense |
probably damaging |
1.00 |
|
IGL02031:Dst
|
APN |
1 |
34189917 |
missense |
possibly damaging |
0.95 |
|
IGL02103:Dst
|
APN |
1 |
34190118 |
missense |
possibly damaging |
0.90 |
|
IGL02121:Dst
|
APN |
1 |
34228657 |
missense |
probably damaging |
1.00 |
|
IGL02315:Dst
|
APN |
1 |
34198665 |
missense |
probably damaging |
1.00 |
|
IGL02317:Dst
|
APN |
1 |
34295163 |
missense |
probably damaging |
1.00 |
|
IGL02469:Dst
|
APN |
1 |
34188828 |
missense |
probably damaging |
1.00 |
|
IGL02492:Dst
|
APN |
1 |
34152193 |
splice site |
probably benign |
|
|
IGL02510:Dst
|
APN |
1 |
34229251 |
splice site |
probably null |
|
|
IGL02522:Dst
|
APN |
1 |
34250700 |
splice site |
probably benign |
|
|
IGL02540:Dst
|
APN |
1 |
34135204 |
missense |
probably damaging |
1.00 |
|
IGL02588:Dst
|
APN |
1 |
34117484 |
missense |
probably damaging |
1.00 |
|
IGL02676:Dst
|
APN |
1 |
34307587 |
missense |
probably damaging |
1.00 |
|
IGL02688:Dst
|
APN |
1 |
34195952 |
missense |
probably damaging |
1.00 |
|
IGL02700:Dst
|
APN |
1 |
34262120 |
missense |
probably damaging |
1.00 |
|
IGL02794:Dst
|
APN |
1 |
34270829 |
missense |
probably damaging |
1.00 |
|
IGL02823:Dst
|
APN |
1 |
34192083 |
missense |
possibly damaging |
0.83 |
|
IGL02935:Dst
|
APN |
1 |
34186845 |
nonsense |
probably null |
|
|
IGL02940:Dst
|
APN |
1 |
34289587 |
missense |
probably benign |
0.36 |
|
IGL02994:Dst
|
APN |
1 |
34229252 |
splice site |
probably benign |
|
|
IGL02996:Dst
|
APN |
1 |
34188398 |
missense |
possibly damaging |
0.93 |
|
IGL02998:Dst
|
APN |
1 |
34268275 |
missense |
probably damaging |
1.00 |
|
IGL03027:Dst
|
APN |
1 |
34186025 |
missense |
possibly damaging |
0.51 |
|
IGL03033:Dst
|
APN |
1 |
34169745 |
splice site |
probably benign |
|
|
IGL03099:Dst
|
APN |
1 |
34275781 |
missense |
probably damaging |
1.00 |
|
IGL03119:Dst
|
APN |
1 |
34161062 |
missense |
probably damaging |
1.00 |
|
IGL03121:Dst
|
APN |
1 |
34217803 |
splice site |
probably benign |
|
|
IGL03132:Dst
|
APN |
1 |
34256641 |
missense |
probably benign |
0.06 |
|
IGL03220:Dst
|
APN |
1 |
34185995 |
missense |
probably damaging |
0.99 |
|
IGL03230:Dst
|
APN |
1 |
34184052 |
nonsense |
probably null |
|
|
IGL03245:Dst
|
APN |
1 |
34211148 |
splice site |
probably null |
|
|
IGL03380:Dst
|
APN |
1 |
34257800 |
missense |
probably damaging |
1.00 |
|
Doodle
|
UTSW |
1 |
34208558 |
nonsense |
probably null |
|
|
dyssed
|
UTSW |
1 |
34256353 |
critical splice donor site |
probably null |
|
|
gobble
|
UTSW |
1 |
34165155 |
critical splice donor site |
probably null |
|
|
Phelps
|
UTSW |
1 |
34223795 |
splice site |
probably null |
|
|
tinsel
|
UTSW |
1 |
34164167 |
missense |
probably damaging |
1.00 |
|
Wastable
|
UTSW |
1 |
34295289 |
missense |
probably damaging |
1.00 |
|
E0370:Dst
|
UTSW |
1 |
34249471 |
splice site |
probably benign |
|
|
FR4304:Dst
|
UTSW |
1 |
34200964 |
missense |
probably damaging |
0.99 |
|
G1citation:Dst
|
UTSW |
1 |
34275674 |
missense |
probably damaging |
0.99 |
|
IGL02799:Dst
|
UTSW |
1 |
34179849 |
missense |
possibly damaging |
0.92 |
|
R0006:Dst
|
UTSW |
1 |
34228918 |
missense |
probably benign |
0.30 |
|
R0006:Dst
|
UTSW |
1 |
34228918 |
missense |
probably benign |
0.30 |
|
R0023:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0023:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0024:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0027:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0049:Dst
|
UTSW |
1 |
34275781 |
missense |
probably damaging |
1.00 |
|
R0053:Dst
|
UTSW |
1 |
34294550 |
splice site |
probably null |
|
|
R0053:Dst
|
UTSW |
1 |
34294550 |
splice site |
probably null |
|
|
R0058:Dst
|
UTSW |
1 |
34006224 |
missense |
possibly damaging |
0.93 |
|
R0066:Dst
|
UTSW |
1 |
34189553 |
missense |
possibly damaging |
0.67 |
|
R0066:Dst
|
UTSW |
1 |
34189553 |
missense |
possibly damaging |
0.67 |
|
R0085:Dst
|
UTSW |
1 |
34229187 |
missense |
probably damaging |
1.00 |
|
R0125:Dst
|
UTSW |
1 |
34270903 |
missense |
probably damaging |
1.00 |
|
R0152:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0165:Dst
|
UTSW |
1 |
34154646 |
splice site |
probably benign |
|
|
R0172:Dst
|
UTSW |
1 |
34270854 |
missense |
probably damaging |
1.00 |
|
R0207:Dst
|
UTSW |
1 |
34186935 |
missense |
probably benign |
0.02 |
|
R0219:Dst
|
UTSW |
1 |
34303478 |
missense |
probably damaging |
0.99 |
|
R0349:Dst
|
UTSW |
1 |
34199553 |
missense |
probably benign |
0.12 |
|
R0386:Dst
|
UTSW |
1 |
34217836 |
missense |
probably damaging |
1.00 |
|
R0389:Dst
|
UTSW |
1 |
34294550 |
splice site |
probably null |
|
|
R0395:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0423:Dst
|
UTSW |
1 |
34278035 |
missense |
possibly damaging |
0.95 |
|
R0443:Dst
|
UTSW |
1 |
34294550 |
splice site |
probably null |
|
|
R0472:Dst
|
UTSW |
1 |
34266960 |
critical splice donor site |
probably null |
|
|
R0490:Dst
|
UTSW |
1 |
34307368 |
nonsense |
probably null |
|
|
R0513:Dst
|
UTSW |
1 |
34219531 |
splice site |
probably benign |
|
|
R0539:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0562:Dst
|
UTSW |
1 |
34227981 |
missense |
probably damaging |
1.00 |
|
R0569:Dst
|
UTSW |
1 |
34293427 |
missense |
probably damaging |
1.00 |
|
R0600:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0608:Dst
|
UTSW |
1 |
34290356 |
splice site |
probably null |
|
|
R0609:Dst
|
UTSW |
1 |
34266960 |
critical splice donor site |
probably null |
|
|
R0630:Dst
|
UTSW |
1 |
34193450 |
missense |
probably benign |
0.05 |
|
R0630:Dst
|
UTSW |
1 |
34199473 |
missense |
probably damaging |
0.98 |
|
R0632:Dst
|
UTSW |
1 |
34271413 |
missense |
probably damaging |
1.00 |
|
R0713:Dst
|
UTSW |
1 |
34189119 |
missense |
probably damaging |
1.00 |
|
R0724:Dst
|
UTSW |
1 |
34188677 |
missense |
probably benign |
0.00 |
|
R0761:Dst
|
UTSW |
1 |
34182767 |
missense |
probably benign |
0.33 |
|
R0801:Dst
|
UTSW |
1 |
34170389 |
missense |
probably damaging |
0.99 |
|
R0829:Dst
|
UTSW |
1 |
34163220 |
missense |
probably damaging |
1.00 |
|
R0939:Dst
|
UTSW |
1 |
34244383 |
missense |
probably damaging |
1.00 |
|
R0945:Dst
|
UTSW |
1 |
34271419 |
missense |
probably damaging |
1.00 |
|
R0992:Dst
|
UTSW |
1 |
34199536 |
missense |
probably damaging |
0.97 |
|
R1018:Dst
|
UTSW |
1 |
34194093 |
missense |
probably damaging |
1.00 |
|
R1077:Dst
|
UTSW |
1 |
34164167 |
missense |
probably damaging |
1.00 |
|
R1079:Dst
|
UTSW |
1 |
34186863 |
missense |
possibly damaging |
0.86 |
|
R1127:Dst
|
UTSW |
1 |
34275277 |
missense |
probably damaging |
1.00 |
|
R1129:Dst
|
UTSW |
1 |
34199554 |
missense |
probably benign |
0.28 |
|
R1141:Dst
|
UTSW |
1 |
34188696 |
missense |
possibly damaging |
0.85 |
|
R1167:Dst
|
UTSW |
1 |
34223858 |
missense |
probably damaging |
1.00 |
|
R1195:Dst
|
UTSW |
1 |
34211154 |
missense |
probably damaging |
1.00 |
|
R1195:Dst
|
UTSW |
1 |
34211154 |
missense |
probably damaging |
1.00 |
|
R1195:Dst
|
UTSW |
1 |
34211154 |
missense |
probably damaging |
1.00 |
|
R1333:Dst
|
UTSW |
1 |
34228347 |
missense |
probably damaging |
1.00 |
|
R1352:Dst
|
UTSW |
1 |
34229248 |
critical splice donor site |
probably null |
|
|
R1365:Dst
|
UTSW |
1 |
34188194 |
missense |
probably benign |
0.02 |
|
R1382:Dst
|
UTSW |
1 |
34268833 |
missense |
probably damaging |
0.99 |
|
R1389:Dst
|
UTSW |
1 |
34211232 |
missense |
probably damaging |
1.00 |
|
R1394:Dst
|
UTSW |
1 |
34165155 |
critical splice donor site |
probably null |
|
|
R1395:Dst
|
UTSW |
1 |
34165155 |
critical splice donor site |
probably null |
|
|
R1435:Dst
|
UTSW |
1 |
34113945 |
missense |
probably damaging |
1.00 |
|
R1450:Dst
|
UTSW |
1 |
34188395 |
missense |
probably damaging |
1.00 |
|
R1450:Dst
|
UTSW |
1 |
34212259 |
missense |
probably damaging |
0.99 |
|
R1453:Dst
|
UTSW |
1 |
34189446 |
missense |
possibly damaging |
0.85 |
|
R1479:Dst
|
UTSW |
1 |
34264515 |
splice site |
probably null |
|
|
R1483:Dst
|
UTSW |
1 |
34252998 |
missense |
probably damaging |
1.00 |
|
R1491:Dst
|
UTSW |
1 |
34154594 |
missense |
probably damaging |
0.99 |
|
R1536:Dst
|
UTSW |
1 |
34260372 |
splice site |
probably benign |
|
|
R1551:Dst
|
UTSW |
1 |
34192212 |
missense |
probably benign |
0.01 |
|
R1573:Dst
|
UTSW |
1 |
34201231 |
missense |
probably damaging |
1.00 |
|
R1614:Dst
|
UTSW |
1 |
34275263 |
missense |
probably damaging |
1.00 |
|
R1615:Dst
|
UTSW |
1 |
34199371 |
missense |
probably damaging |
1.00 |
|
R1645:Dst
|
UTSW |
1 |
34225722 |
missense |
probably damaging |
1.00 |
|
R1655:Dst
|
UTSW |
1 |
34282576 |
nonsense |
probably null |
|
|
R1663:Dst
|
UTSW |
1 |
34163385 |
missense |
probably damaging |
1.00 |
|
R1674:Dst
|
UTSW |
1 |
34223795 |
splice site |
probably null |
|
|
R1702:Dst
|
UTSW |
1 |
34167340 |
missense |
probably damaging |
1.00 |
|
R1707:Dst
|
UTSW |
1 |
34167646 |
missense |
probably damaging |
1.00 |
|
R1747:Dst
|
UTSW |
1 |
34160709 |
missense |
probably damaging |
1.00 |
|
R1760:Dst
|
UTSW |
1 |
34228603 |
missense |
probably damaging |
1.00 |
|
R1773:Dst
|
UTSW |
1 |
34291899 |
missense |
probably damaging |
0.99 |
|
R1793:Dst
|
UTSW |
1 |
34152471 |
nonsense |
probably null |
|
|
R1842:Dst
|
UTSW |
1 |
34164119 |
missense |
probably null |
0.98 |
|
R1869:Dst
|
UTSW |
1 |
34252832 |
missense |
probably damaging |
0.99 |
|
R1879:Dst
|
UTSW |
1 |
34188843 |
missense |
probably benign |
0.15 |
|
R1883:Dst
|
UTSW |
1 |
34189308 |
missense |
possibly damaging |
0.74 |
|
R1912:Dst
|
UTSW |
1 |
34291850 |
missense |
probably damaging |
1.00 |
|
R1920:Dst
|
UTSW |
1 |
34161029 |
missense |
probably damaging |
0.99 |
|
R1921:Dst
|
UTSW |
1 |
34161029 |
missense |
probably damaging |
0.99 |
|
R1943:Dst
|
UTSW |
1 |
34228369 |
missense |
possibly damaging |
0.67 |
|
R1958:Dst
|
UTSW |
1 |
34163721 |
missense |
probably damaging |
1.00 |
|
R1962:Dst
|
UTSW |
1 |
34191016 |
missense |
possibly damaging |
0.47 |
|
R1991:Dst
|
UTSW |
1 |
34190258 |
missense |
probably benign |
0.11 |
|
R1998:Dst
|
UTSW |
1 |
34256347 |
missense |
probably damaging |
1.00 |
|
R2001:Dst
|
UTSW |
1 |
34184063 |
missense |
probably damaging |
0.97 |
|
R2007:Dst
|
UTSW |
1 |
34226012 |
splice site |
probably benign |
|
|
R2021:Dst
|
UTSW |
1 |
34166291 |
missense |
possibly damaging |
0.70 |
|
R2022:Dst
|
UTSW |
1 |
34166291 |
missense |
possibly damaging |
0.70 |
|
R2035:Dst
|
UTSW |
1 |
34271413 |
missense |
probably damaging |
1.00 |
|
R2077:Dst
|
UTSW |
1 |
34211170 |
missense |
probably damaging |
1.00 |
|
R2103:Dst
|
UTSW |
1 |
34190258 |
missense |
probably benign |
0.11 |
|
R2111:Dst
|
UTSW |
1 |
34169178 |
missense |
probably damaging |
1.00 |
|
R2112:Dst
|
UTSW |
1 |
34169178 |
missense |
probably damaging |
1.00 |
|
R2113:Dst
|
UTSW |
1 |
34275236 |
missense |
probably damaging |
0.97 |
|
R2201:Dst
|
UTSW |
1 |
34195921 |
missense |
possibly damaging |
0.60 |
|
R2214:Dst
|
UTSW |
1 |
34271401 |
missense |
probably damaging |
1.00 |
|
R2219:Dst
|
UTSW |
1 |
34170433 |
missense |
probably damaging |
1.00 |
|
R2233:Dst
|
UTSW |
1 |
34274262 |
missense |
probably damaging |
1.00 |
|
R2267:Dst
|
UTSW |
1 |
34295466 |
missense |
probably damaging |
1.00 |
|
R2290:Dst
|
UTSW |
1 |
34229200 |
missense |
probably damaging |
1.00 |
|
R2323:Dst
|
UTSW |
1 |
34228437 |
missense |
possibly damaging |
0.93 |
|
R2424:Dst
|
UTSW |
1 |
34167060 |
missense |
probably damaging |
1.00 |
|
R2426:Dst
|
UTSW |
1 |
34192812 |
missense |
probably benign |
0.03 |
|
R2495:Dst
|
UTSW |
1 |
34199373 |
missense |
probably damaging |
0.99 |
|
R2507:Dst
|
UTSW |
1 |
34011909 |
missense |
probably damaging |
0.98 |
|
R2507:Dst
|
UTSW |
1 |
34188417 |
missense |
possibly damaging |
0.85 |
|
R2510:Dst
|
UTSW |
1 |
34212286 |
missense |
probably benign |
|
|
R2831:Dst
|
UTSW |
1 |
34275292 |
missense |
probably damaging |
1.00 |
|
R2929:Dst
|
UTSW |
1 |
34167062 |
nonsense |
probably null |
|
|
R3033:Dst
|
UTSW |
1 |
34152285 |
missense |
probably damaging |
0.99 |
|
R3121:Dst
|
UTSW |
1 |
34289648 |
missense |
probably damaging |
1.00 |
|
R3424:Dst
|
UTSW |
1 |
34198505 |
splice site |
probably benign |
|
|
R3437:Dst
|
UTSW |
1 |
34190222 |
missense |
probably damaging |
1.00 |
|
R3699:Dst
|
UTSW |
1 |
34213074 |
splice site |
probably benign |
|
|
R3739:Dst
|
UTSW |
1 |
34268894 |
splice site |
probably benign |
|
|
R3796:Dst
|
UTSW |
1 |
34181915 |
missense |
probably benign |
0.15 |
|
R3847:Dst
|
UTSW |
1 |
34212319 |
missense |
probably damaging |
1.00 |
|
R3848:Dst
|
UTSW |
1 |
34212319 |
missense |
probably damaging |
1.00 |
|
R3849:Dst
|
UTSW |
1 |
34212319 |
missense |
probably damaging |
1.00 |
|
R3850:Dst
|
UTSW |
1 |
34189274 |
nonsense |
probably null |
|
|
R3850:Dst
|
UTSW |
1 |
34212319 |
missense |
probably damaging |
1.00 |
|
R3873:Dst
|
UTSW |
1 |
34289620 |
missense |
probably damaging |
1.00 |
|
R3875:Dst
|
UTSW |
1 |
34171247 |
missense |
probably damaging |
1.00 |
|
R3973:Dst
|
UTSW |
1 |
34011898 |
missense |
probably benign |
0.34 |
|
R4014:Dst
|
UTSW |
1 |
34191282 |
nonsense |
probably null |
|
|
R4043:Dst
|
UTSW |
1 |
34190684 |
missense |
probably benign |
0.03 |
|
R4057:Dst
|
UTSW |
1 |
34186054 |
splice site |
probably benign |
|
|
R4074:Dst
|
UTSW |
1 |
34192269 |
missense |
probably benign |
0.20 |
|
R4074:Dst
|
UTSW |
1 |
34228461 |
missense |
probably damaging |
0.97 |
|
R4075:Dst
|
UTSW |
1 |
34192269 |
missense |
probably benign |
0.20 |
|
R4076:Dst
|
UTSW |
1 |
34192269 |
missense |
probably benign |
0.20 |
|
R4206:Dst
|
UTSW |
1 |
34212247 |
missense |
probably damaging |
1.00 |
|
R4230:Dst
|
UTSW |
1 |
34195828 |
missense |
probably benign |
0.04 |
|
R4242:Dst
|
UTSW |
1 |
34006216 |
missense |
possibly damaging |
0.88 |
|
R4273:Dst
|
UTSW |
1 |
34192340 |
missense |
possibly damaging |
0.72 |
|
R4366:Dst
|
UTSW |
1 |
34251878 |
missense |
probably damaging |
1.00 |
|
R4370:Dst
|
UTSW |
1 |
34251728 |
frame shift |
probably null |
|
|
R4379:Dst
|
UTSW |
1 |
34163235 |
missense |
probably damaging |
1.00 |
|
R4379:Dst
|
UTSW |
1 |
34227975 |
missense |
probably benign |
0.07 |
|
R4380:Dst
|
UTSW |
1 |
34163235 |
missense |
probably damaging |
1.00 |
|
R4381:Dst
|
UTSW |
1 |
34163235 |
missense |
probably damaging |
1.00 |
|
R4423:Dst
|
UTSW |
1 |
34188393 |
missense |
possibly damaging |
0.76 |
|
R4427:Dst
|
UTSW |
1 |
34181460 |
missense |
probably benign |
0.19 |
|
R4456:Dst
|
UTSW |
1 |
34190719 |
missense |
probably benign |
0.06 |
|
R4469:Dst
|
UTSW |
1 |
34191842 |
missense |
probably benign |
0.02 |
|
R4502:Dst
|
UTSW |
1 |
34247691 |
missense |
probably damaging |
0.99 |
|
R4503:Dst
|
UTSW |
1 |
34262253 |
critical splice donor site |
probably null |
|
|
R4610:Dst
|
UTSW |
1 |
34169856 |
missense |
probably damaging |
1.00 |
|
R4633:Dst
|
UTSW |
1 |
34170434 |
missense |
probably damaging |
1.00 |
|
R4675:Dst
|
UTSW |
1 |
34275703 |
missense |
possibly damaging |
0.94 |
|
R4687:Dst
|
UTSW |
1 |
34201123 |
missense |
probably damaging |
1.00 |
|
R4739:Dst
|
UTSW |
1 |
34191147 |
missense |
probably benign |
0.01 |
|
R4751:Dst
|
UTSW |
1 |
34191884 |
missense |
probably benign |
0.21 |
|
R4754:Dst
|
UTSW |
1 |
34212309 |
missense |
probably damaging |
1.00 |
|
R4771:Dst
|
UTSW |
1 |
34249484 |
missense |
probably damaging |
1.00 |
|
R4819:Dst
|
UTSW |
1 |
33968835 |
missense |
probably benign |
0.03 |
|
R4830:Dst
|
UTSW |
1 |
34198505 |
splice site |
probably null |
|
|
R4839:Dst
|
UTSW |
1 |
34190862 |
missense |
probably damaging |
0.96 |
|
R4845:Dst
|
UTSW |
1 |
34193127 |
missense |
probably benign |
0.02 |
|
R4904:Dst
|
UTSW |
1 |
34169798 |
missense |
probably damaging |
0.99 |
|
R4932:Dst
|
UTSW |
1 |
34228683 |
missense |
possibly damaging |
0.47 |
|
R4934:Dst
|
UTSW |
1 |
34208588 |
missense |
probably damaging |
1.00 |
|
R4952:Dst
|
UTSW |
1 |
34271422 |
missense |
probably damaging |
1.00 |
|
R4961:Dst
|
UTSW |
1 |
33968823 |
missense |
possibly damaging |
0.53 |
|
R4976:Dst
|
UTSW |
1 |
34195969 |
nonsense |
probably null |
|
|
R4980:Dst
|
UTSW |
1 |
34256288 |
missense |
probably damaging |
1.00 |
|
R5011:Dst
|
UTSW |
1 |
34250647 |
missense |
probably damaging |
1.00 |
|
R5013:Dst
|
UTSW |
1 |
34250647 |
missense |
probably damaging |
1.00 |
|
R5059:Dst
|
UTSW |
1 |
34163346 |
missense |
possibly damaging |
0.70 |
|
R5074:Dst
|
UTSW |
1 |
34295263 |
missense |
probably damaging |
1.00 |
|
R5114:Dst
|
UTSW |
1 |
34202559 |
missense |
probably damaging |
0.98 |
|
R5119:Dst
|
UTSW |
1 |
34195969 |
nonsense |
probably null |
|
|
R5182:Dst
|
UTSW |
1 |
34179086 |
missense |
probably benign |
|
|
R5236:Dst
|
UTSW |
1 |
34164417 |
missense |
probably damaging |
1.00 |
|
R5240:Dst
|
UTSW |
1 |
34208558 |
nonsense |
probably null |
|
|
R5254:Dst
|
UTSW |
1 |
34177931 |
nonsense |
probably null |
|
|
R5275:Dst
|
UTSW |
1 |
34180148 |
missense |
probably benign |
0.13 |
|
R5281:Dst
|
UTSW |
1 |
34257782 |
missense |
probably benign |
0.29 |
|
R5299:Dst
|
UTSW |
1 |
34135092 |
missense |
probably damaging |
1.00 |
|
R5316:Dst
|
UTSW |
1 |
34223848 |
missense |
probably damaging |
0.97 |
|
R5319:Dst
|
UTSW |
1 |
34225977 |
missense |
possibly damaging |
0.95 |
|
R5425:Dst
|
UTSW |
1 |
34179750 |
missense |
probably benign |
0.00 |
|
R5443:Dst
|
UTSW |
1 |
34228539 |
missense |
probably damaging |
1.00 |
|
R5522:Dst
|
UTSW |
1 |
34257873 |
missense |
possibly damaging |
0.46 |
|
R5537:Dst
|
UTSW |
1 |
34189878 |
missense |
probably benign |
0.25 |
|
R5548:Dst
|
UTSW |
1 |
34189328 |
missense |
probably benign |
|
|
R5557:Dst
|
UTSW |
1 |
34282586 |
missense |
probably damaging |
1.00 |
|
R5597:Dst
|
UTSW |
1 |
34192713 |
missense |
probably benign |
0.07 |
|
R5623:Dst
|
UTSW |
1 |
34190133 |
missense |
possibly damaging |
0.56 |
|
R5630:Dst
|
UTSW |
1 |
34188785 |
frame shift |
probably null |
|
|
R5660:Dst
|
UTSW |
1 |
34282493 |
missense |
probably damaging |
1.00 |
|
R5730:Dst
|
UTSW |
1 |
34117526 |
splice site |
probably null |
|
|
R5762:Dst
|
UTSW |
1 |
34179357 |
missense |
probably damaging |
0.99 |
|
R5810:Dst
|
UTSW |
1 |
34183040 |
intron |
probably benign |
|
|
R5816:Dst
|
UTSW |
1 |
34179234 |
missense |
probably benign |
|
|
R5846:Dst
|
UTSW |
1 |
34195861 |
nonsense |
probably null |
|
|
R5874:Dst
|
UTSW |
1 |
34179589 |
missense |
probably damaging |
0.98 |
|
R5899:Dst
|
UTSW |
1 |
34295289 |
missense |
probably damaging |
1.00 |
|
R5923:Dst
|
UTSW |
1 |
34181759 |
missense |
probably benign |
0.00 |
|
R5936:Dst
|
UTSW |
1 |
34307458 |
missense |
probably damaging |
1.00 |
|
R5946:Dst
|
UTSW |
1 |
34174192 |
missense |
probably benign |
0.01 |
|
R5950:Dst
|
UTSW |
1 |
34262060 |
missense |
probably damaging |
1.00 |
|
R5958:Dst
|
UTSW |
1 |
34186050 |
missense |
probably damaging |
0.97 |
|
R5973:Dst
|
UTSW |
1 |
34156857 |
missense |
probably damaging |
1.00 |
|
R5979:Dst
|
UTSW |
1 |
34160372 |
intron |
probably benign |
|
|
R5980:Dst
|
UTSW |
1 |
34182891 |
missense |
probably benign |
0.34 |
|
R5984:Dst
|
UTSW |
1 |
34172263 |
missense |
probably benign |
0.05 |
|
R6000:Dst
|
UTSW |
1 |
34212223 |
missense |
possibly damaging |
0.92 |
|
R6014:Dst
|
UTSW |
1 |
34264834 |
missense |
probably damaging |
1.00 |
|
R6042:Dst
|
UTSW |
1 |
34188972 |
missense |
probably damaging |
1.00 |
|
R6064:Dst
|
UTSW |
1 |
34194051 |
missense |
probably damaging |
1.00 |
|
R6126:Dst
|
UTSW |
1 |
34228183 |
missense |
probably damaging |
1.00 |
|
R6157:Dst
|
UTSW |
1 |
34211172 |
missense |
probably damaging |
1.00 |
|
R6162:Dst
|
UTSW |
1 |
34006237 |
missense |
probably damaging |
0.99 |
|
R6185:Dst
|
UTSW |
1 |
34173080 |
missense |
probably damaging |
0.99 |
|
R6226:Dst
|
UTSW |
1 |
34270874 |
missense |
probably damaging |
1.00 |
|
R6227:Dst
|
UTSW |
1 |
34194540 |
missense |
probably benign |
0.41 |
|
R6232:Dst
|
UTSW |
1 |
34188172 |
missense |
probably damaging |
1.00 |
|
R6259:Dst
|
UTSW |
1 |
34182396 |
missense |
probably benign |
0.26 |
|
R6267:Dst
|
UTSW |
1 |
34228672 |
missense |
probably damaging |
1.00 |
|
R6273:Dst
|
UTSW |
1 |
34275266 |
missense |
probably damaging |
1.00 |
|
R6284:Dst
|
UTSW |
1 |
34229085 |
missense |
probably damaging |
1.00 |
|
R6347:Dst
|
UTSW |
1 |
34179684 |
splice site |
probably null |
|
|
R6365:Dst
|
UTSW |
1 |
34191927 |
missense |
probably damaging |
1.00 |
|
R6385:Dst
|
UTSW |
1 |
34307468 |
missense |
possibly damaging |
0.85 |
|
R6389:Dst
|
UTSW |
1 |
34193184 |
missense |
probably damaging |
0.99 |
|
R6395:Dst
|
UTSW |
1 |
34182690 |
missense |
probably benign |
0.17 |
|
R6416:Dst
|
UTSW |
1 |
34116128 |
missense |
probably damaging |
1.00 |
|
R6467:Dst
|
UTSW |
1 |
34295196 |
missense |
probably damaging |
1.00 |
|
R6470:Dst
|
UTSW |
1 |
34295237 |
missense |
probably damaging |
1.00 |
|
R6477:Dst
|
UTSW |
1 |
34208728 |
splice site |
probably null |
|
|
R6485:Dst
|
UTSW |
1 |
34294529 |
missense |
probably damaging |
1.00 |
|
R6491:Dst
|
UTSW |
1 |
34193012 |
missense |
probably benign |
0.10 |
|
R6525:Dst
|
UTSW |
1 |
34163135 |
missense |
probably damaging |
1.00 |
|
R6533:Dst
|
UTSW |
1 |
34303509 |
missense |
probably benign |
0.08 |
|
R6595:Dst
|
UTSW |
1 |
34250680 |
missense |
probably damaging |
1.00 |
|
R6622:Dst
|
UTSW |
1 |
34179251 |
missense |
probably benign |
0.22 |
|
R6646:Dst
|
UTSW |
1 |
34268807 |
missense |
possibly damaging |
0.80 |
|
R6648:Dst
|
UTSW |
1 |
34262041 |
missense |
possibly damaging |
0.84 |
|
R6700:Dst
|
UTSW |
1 |
34256323 |
missense |
probably damaging |
1.00 |
|
R6743:Dst
|
UTSW |
1 |
34270890 |
missense |
probably damaging |
1.00 |
|
R6761:Dst
|
UTSW |
1 |
34214550 |
missense |
probably damaging |
1.00 |
|
R6766:Dst
|
UTSW |
1 |
34294483 |
missense |
probably damaging |
1.00 |
|
R6768:Dst
|
UTSW |
1 |
34181712 |
missense |
probably damaging |
0.98 |
|
R6810:Dst
|
UTSW |
1 |
34212298 |
missense |
probably damaging |
1.00 |
|
R6815:Dst
|
UTSW |
1 |
34228369 |
missense |
possibly damaging |
0.67 |
|
R6820:Dst
|
UTSW |
1 |
34211256 |
missense |
probably damaging |
1.00 |
|
R6822:Dst
|
UTSW |
1 |
34275674 |
missense |
probably damaging |
0.99 |
|
R6831:Dst
|
UTSW |
1 |
34190684 |
missense |
probably benign |
0.03 |
|
R6874:Dst
|
UTSW |
1 |
34289651 |
missense |
probably benign |
0.29 |
|
R6945:Dst
|
UTSW |
1 |
34190490 |
missense |
probably damaging |
1.00 |
|
R6985:Dst
|
UTSW |
1 |
34190853 |
missense |
probably benign |
0.08 |
|
R6995:Dst
|
UTSW |
1 |
34166234 |
missense |
probably damaging |
1.00 |
|
R7038:Dst
|
UTSW |
1 |
34182798 |
nonsense |
probably null |
|
|
R7043:Dst
|
UTSW |
1 |
34257911 |
missense |
probably damaging |
0.99 |
|
R7070:Dst
|
UTSW |
1 |
34275302 |
missense |
probably damaging |
1.00 |
|
R7097:Dst
|
UTSW |
1 |
34169260 |
missense |
probably damaging |
1.00 |
|
R7139:Dst
|
UTSW |
1 |
34299807 |
missense |
probably damaging |
0.97 |
|
R7144:Dst
|
UTSW |
1 |
34152243 |
missense |
probably damaging |
1.00 |
|
R7145:Dst
|
UTSW |
1 |
34189882 |
missense |
probably benign |
|
|
R7158:Dst
|
UTSW |
1 |
34274285 |
missense |
probably benign |
|
|
R7207:Dst
|
UTSW |
1 |
34163337 |
missense |
probably damaging |
0.98 |
|
R7320:Dst
|
UTSW |
1 |
34191094 |
missense |
probably benign |
|
|
R7324:Dst
|
UTSW |
1 |
34006224 |
missense |
possibly damaging |
0.93 |
|
R7327:Dst
|
UTSW |
1 |
34201405 |
missense |
probably damaging |
1.00 |
|
R7340:Dst
|
UTSW |
1 |
34190729 |
missense |
probably benign |
0.01 |
|
R7358:Dst
|
UTSW |
1 |
34191673 |
missense |
probably benign |
|
|
R7373:Dst
|
UTSW |
1 |
34188391 |
missense |
probably benign |
0.02 |
|
R7376:Dst
|
UTSW |
1 |
34192689 |
missense |
probably benign |
|
|
R7453:Dst
|
UTSW |
1 |
34191358 |
missense |
possibly damaging |
0.95 |
|
R7467:Dst
|
UTSW |
1 |
34191155 |
missense |
probably benign |
0.00 |
|
R7471:Dst
|
UTSW |
1 |
34194570 |
missense |
possibly damaging |
0.49 |
|
R7472:Dst
|
UTSW |
1 |
34218497 |
missense |
probably benign |
0.02 |
|
R7485:Dst
|
UTSW |
1 |
34274189 |
missense |
probably benign |
0.31 |
|
R7504:Dst
|
UTSW |
1 |
34201017 |
missense |
probably damaging |
1.00 |
|
R7516:Dst
|
UTSW |
1 |
34170479 |
missense |
probably benign |
0.10 |
|
R7524:Dst
|
UTSW |
1 |
34291893 |
missense |
possibly damaging |
0.94 |
|
R7528:Dst
|
UTSW |
1 |
34294522 |
missense |
probably damaging |
1.00 |
|
R7560:Dst
|
UTSW |
1 |
34182451 |
missense |
possibly damaging |
0.92 |
|
R7582:Dst
|
UTSW |
1 |
34169883 |
missense |
probably damaging |
1.00 |
|
R7585:Dst
|
UTSW |
1 |
34114015 |
missense |
possibly damaging |
0.50 |
|
R7594:Dst
|
UTSW |
1 |
34213013 |
missense |
probably damaging |
1.00 |
|
R7600:Dst
|
UTSW |
1 |
34266930 |
missense |
probably damaging |
1.00 |
|
R7619:Dst
|
UTSW |
1 |
34199428 |
missense |
probably benign |
0.02 |
|
R7623:Dst
|
UTSW |
1 |
34170436 |
missense |
probably damaging |
0.99 |
|
R7649:Dst
|
UTSW |
1 |
34167697 |
missense |
probably benign |
0.13 |
|
R7654:Dst
|
UTSW |
1 |
34228977 |
missense |
probably damaging |
1.00 |
|
R7654:Dst
|
UTSW |
1 |
34228978 |
missense |
probably damaging |
1.00 |
|
R7661:Dst
|
UTSW |
1 |
34256353 |
critical splice donor site |
probably null |
|
|
R7667:Dst
|
UTSW |
1 |
34179035 |
missense |
possibly damaging |
0.82 |
|
R7677:Dst
|
UTSW |
1 |
34169322 |
critical splice donor site |
probably null |
|
|
R7698:Dst
|
UTSW |
1 |
34190387 |
missense |
probably benign |
0.02 |
|
R7765:Dst
|
UTSW |
1 |
34275694 |
missense |
probably damaging |
0.97 |
|
R7772:Dst
|
UTSW |
1 |
34181388 |
missense |
possibly damaging |
0.90 |
|
R7779:Dst
|
UTSW |
1 |
34194597 |
missense |
probably damaging |
0.99 |
|
R7791:Dst
|
UTSW |
1 |
34154592 |
missense |
probably damaging |
0.99 |
|
R7821:Dst
|
UTSW |
1 |
34275362 |
critical splice donor site |
probably null |
|
|
R7834:Dst
|
UTSW |
1 |
34194105 |
missense |
probably benign |
0.22 |
|
R7935:Dst
|
UTSW |
1 |
34290405 |
missense |
probably damaging |
1.00 |
|
R7940:Dst
|
UTSW |
1 |
34167676 |
missense |
possibly damaging |
0.94 |
|
R7951:Dst
|
UTSW |
1 |
34201186 |
missense |
probably benign |
|
|
R7956:Dst
|
UTSW |
1 |
34225618 |
missense |
probably damaging |
1.00 |
|
R7970:Dst
|
UTSW |
1 |
34182747 |
missense |
possibly damaging |
0.80 |
|
R7982:Dst
|
UTSW |
1 |
34182540 |
missense |
possibly damaging |
0.89 |
|
R8048:Dst
|
UTSW |
1 |
34190636 |
missense |
probably benign |
0.00 |
|
R8052:Dst
|
UTSW |
1 |
34284363 |
missense |
probably damaging |
1.00 |
|
R8094:Dst
|
UTSW |
1 |
34188959 |
missense |
possibly damaging |
0.76 |
|
R8116:Dst
|
UTSW |
1 |
34274180 |
missense |
probably benign |
0.27 |
|
R8127:Dst
|
UTSW |
1 |
34178229 |
missense |
probably damaging |
1.00 |
|
R8139:Dst
|
UTSW |
1 |
34191852 |
missense |
probably benign |
|
|
R8205:Dst
|
UTSW |
1 |
34214604 |
missense |
probably damaging |
1.00 |
|
R8211:Dst
|
UTSW |
1 |
34212451 |
missense |
probably damaging |
1.00 |
|
R8237:Dst
|
UTSW |
1 |
34169793 |
missense |
possibly damaging |
0.96 |
|
R8265:Dst
|
UTSW |
1 |
34178522 |
missense |
probably benign |
0.13 |
|
R8309:Dst
|
UTSW |
1 |
34117511 |
missense |
probably damaging |
1.00 |
|
R8315:Dst
|
UTSW |
1 |
34284420 |
critical splice donor site |
probably null |
|
|
R8469:Dst
|
UTSW |
1 |
34229028 |
missense |
probably damaging |
1.00 |
|
R8474:Dst
|
UTSW |
1 |
34169185 |
missense |
probably damaging |
1.00 |
|
R8502:Dst
|
UTSW |
1 |
34167292 |
missense |
probably damaging |
1.00 |
|
R8534:Dst
|
UTSW |
1 |
34190307 |
missense |
probably benign |
0.12 |
|
R8535:Dst
|
UTSW |
1 |
34186001 |
missense |
probably damaging |
1.00 |
|
R8536:Dst
|
UTSW |
1 |
34197246 |
missense |
possibly damaging |
0.64 |
|
R8542:Dst
|
UTSW |
1 |
34192607 |
missense |
possibly damaging |
0.61 |
|
R8560:Dst
|
UTSW |
1 |
34268889 |
missense |
probably damaging |
1.00 |
|
R8737:Dst
|
UTSW |
1 |
34228669 |
missense |
probably benign |
0.00 |
|
R8742:Dst
|
UTSW |
1 |
34212344 |
missense |
probably benign |
0.01 |
|
R8882:Dst
|
UTSW |
1 |
34200924 |
missense |
probably damaging |
1.00 |
|
R8894:Dst
|
UTSW |
1 |
34174133 |
missense |
possibly damaging |
0.96 |
|
R8973:Dst
|
UTSW |
1 |
34228855 |
missense |
probably damaging |
1.00 |
|
R8977:Dst
|
UTSW |
1 |
34247783 |
missense |
probably damaging |
0.99 |
|
R8985:Dst
|
UTSW |
1 |
34249805 |
missense |
probably benign |
0.00 |
|
R9001:Dst
|
UTSW |
1 |
34174211 |
missense |
possibly damaging |
0.63 |
|
R9005:Dst
|
UTSW |
1 |
34228693 |
missense |
probably damaging |
0.99 |
|
R9013:Dst
|
UTSW |
1 |
34178084 |
missense |
possibly damaging |
0.46 |
|
R9015:Dst
|
UTSW |
1 |
34287256 |
missense |
probably benign |
0.00 |
|
R9018:Dst
|
UTSW |
1 |
34196059 |
missense |
probably damaging |
0.97 |
|
R9023:Dst
|
UTSW |
1 |
34114024 |
critical splice donor site |
probably null |
|
|
R9025:Dst
|
UTSW |
1 |
34188504 |
missense |
possibly damaging |
0.73 |
|
R9052:Dst
|
UTSW |
1 |
34166964 |
missense |
probably damaging |
1.00 |
|
R9052:Dst
|
UTSW |
1 |
34197330 |
nonsense |
probably null |
|
|
R9147:Dst
|
UTSW |
1 |
34189068 |
missense |
probably damaging |
0.99 |
|
R9169:Dst
|
UTSW |
1 |
34264571 |
missense |
probably damaging |
1.00 |
|
R9181:Dst
|
UTSW |
1 |
34192737 |
missense |
probably benign |
|
|
R9224:Dst
|
UTSW |
1 |
34291798 |
missense |
probably damaging |
1.00 |
|
R9245:Dst
|
UTSW |
1 |
34189862 |
missense |
probably benign |
|
|
R9267:Dst
|
UTSW |
1 |
34193064 |
missense |
probably benign |
|
|
R9302:Dst
|
UTSW |
1 |
34225555 |
missense |
probably damaging |
1.00 |
|
R9344:Dst
|
UTSW |
1 |
34181595 |
missense |
probably damaging |
0.99 |
|
R9363:Dst
|
UTSW |
1 |
34195979 |
missense |
probably damaging |
1.00 |
|
R9441:Dst
|
UTSW |
1 |
34199351 |
missense |
probably damaging |
1.00 |
|
R9477:Dst
|
UTSW |
1 |
34166211 |
missense |
probably damaging |
1.00 |
|
R9501:Dst
|
UTSW |
1 |
34188768 |
missense |
probably damaging |
0.98 |
|
R9509:Dst
|
UTSW |
1 |
33908384 |
missense |
possibly damaging |
0.72 |
|
R9572:Dst
|
UTSW |
1 |
34211171 |
missense |
probably damaging |
1.00 |
|
R9598:Dst
|
UTSW |
1 |
34113933 |
missense |
possibly damaging |
0.79 |
|
R9651:Dst
|
UTSW |
1 |
34180377 |
missense |
probably benign |
0.39 |
|
R9652:Dst
|
UTSW |
1 |
34180377 |
missense |
probably benign |
0.39 |
|
R9664:Dst
|
UTSW |
1 |
34181655 |
missense |
probably benign |
0.33 |
|
R9666:Dst
|
UTSW |
1 |
34179866 |
nonsense |
probably null |
|
|
R9707:Dst
|
UTSW |
1 |
34189853 |
missense |
probably benign |
0.28 |
|
R9721:Dst
|
UTSW |
1 |
34192785 |
missense |
probably benign |
|
|
R9727:Dst
|
UTSW |
1 |
34275796 |
missense |
probably damaging |
1.00 |
|
R9781:Dst
|
UTSW |
1 |
34178994 |
missense |
probably benign |
|
|
R9787:Dst
|
UTSW |
1 |
34180443 |
missense |
probably benign |
0.02 |
|
RF014:Dst
|
UTSW |
1 |
34247679 |
missense |
probably benign |
0.00 |
|
X0026:Dst
|
UTSW |
1 |
34213055 |
missense |
probably damaging |
0.97 |
|
X0028:Dst
|
UTSW |
1 |
34192199 |
missense |
probably damaging |
1.00 |
|
X0063:Dst
|
UTSW |
1 |
34195895 |
missense |
probably damaging |
1.00 |
|
X0066:Dst
|
UTSW |
1 |
34275703 |
nonsense |
probably null |
|
|
Z1176:Dst
|
UTSW |
1 |
34165143 |
missense |
probably benign |
0.00 |
|
Z1176:Dst
|
UTSW |
1 |
34188467 |
nonsense |
probably null |
|
|
Z1176:Dst
|
UTSW |
1 |
34244445 |
missense |
probably benign |
0.02 |
|
Z1176:Dst
|
UTSW |
1 |
34275208 |
missense |
probably damaging |
1.00 |
|
Z1177:Dst
|
UTSW |
1 |
34181232 |
missense |
probably benign |
0.15 |
|
Z1177:Dst
|
UTSW |
1 |
34194518 |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTTTTACCAGTGAGACCGCAG -3'
(R):5'- AATATTTCACCAGAGTGGGGCC -3'
Sequencing Primer
(F):5'- GCTGGCAGAATAACACTGAAG -3'
(R):5'- GCCAGATGAGTCCAACGTAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation