Incidental Mutation 'R2287:Obscn'
| ID | 244160 |
|---|
| Institutional Source |
Beutler Lab
|
|---|
| Gene Symbol |
Obscn
|
|---|
| Ensembl Gene |
ENSMUSG00000061462 |
|---|
| Gene Name | obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF |
|---|
| Synonyms | OTTMUSG00000005786, LOC380698 |
|---|
| MMRRC Submission |
040286-MU
|
|---|
| Accession Numbers |
Genbank: NM_001171512.1, NM_199152.2; MGI: 2681862
|
|---|
| Is this an essential gene? |
Probably essential (E-score: 0.824)
|
|---|
| Stock # | R2287 (G1)
|
|---|
| Quality Score | 201 |
|---|
| Status |
Not validated
|
|---|
| Chromosome | 11 |
|---|
| Chromosomal Location | 58994256-59136402 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 59131646 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Arginine to Glycine
at position 758
(R758G)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020732
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020732]
[ENSMUST00000047441]
[ENSMUST00000052872]
[ENSMUST00000219084]
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020732
AA Change: R758G
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000020732
Gene: ENSMUSG00000061462
AA Change: R758G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
21 |
88 |
8e-12 |
SMART |
|
IGc2
|
121 |
190 |
8.31e-10 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
316 |
4.63e-8 |
SMART |
|
IG
|
337 |
417 |
5.32e-8 |
SMART |
|
IG_like
|
425 |
506 |
1.5e2 |
SMART |
|
FN3
|
510 |
596 |
2.11e-9 |
SMART |
|
IG
|
711 |
790 |
2.39e-1 |
SMART |
|
IGc2
|
876 |
942 |
4.49e-6 |
SMART |
|
IGc2
|
968 |
1034 |
2.54e-5 |
SMART |
|
IGc2
|
1060 |
1126 |
2.54e-5 |
SMART |
|
IGc2
|
1152 |
1218 |
4.49e-6 |
SMART |
|
IGc2
|
1244 |
1310 |
7.82e-6 |
SMART |
|
IGc2
|
1336 |
1402 |
5.16e-6 |
SMART |
|
IGc2
|
1428 |
1494 |
1.93e-5 |
SMART |
|
IGc2
|
1520 |
1586 |
1.93e-5 |
SMART |
|
IGc2
|
1612 |
1678 |
1.93e-5 |
SMART |
|
IGc2
|
1704 |
1770 |
1.93e-5 |
SMART |
|
IGc2
|
1796 |
1862 |
1.93e-5 |
SMART |
|
IGc2
|
1888 |
1954 |
1.93e-5 |
SMART |
|
IGc2
|
1980 |
2046 |
7.94e-7 |
SMART |
|
IGc2
|
2072 |
2138 |
6.35e-6 |
SMART |
|
IG
|
2158 |
2238 |
5.37e-4 |
SMART |
|
IG
|
2248 |
2327 |
9.93e-8 |
SMART |
|
IG
|
2338 |
2417 |
2.48e-8 |
SMART |
|
IG
|
2427 |
2506 |
3.89e-1 |
SMART |
|
IG
|
2516 |
2595 |
1.92e0 |
SMART |
|
IG
|
2605 |
2683 |
6.45e-7 |
SMART |
|
IG
|
2728 |
2807 |
1.22e-7 |
SMART |
|
IGc2
|
2913 |
2979 |
9.93e-8 |
SMART |
|
low complexity region
|
2981 |
2992 |
N/A |
INTRINSIC |
|
IG
|
2996 |
3075 |
2.44e0 |
SMART |
|
IGc2
|
3091 |
3157 |
2.1e-6 |
SMART |
|
IG
|
3174 |
3255 |
2.86e0 |
SMART |
|
IGc2
|
3271 |
3337 |
8.38e-6 |
SMART |
|
IG
|
3354 |
3433 |
1.2e-6 |
SMART |
|
IG
|
3443 |
3524 |
1.42e-3 |
SMART |
|
IGc2
|
3540 |
3606 |
3.85e-5 |
SMART |
|
IGc2
|
3629 |
3695 |
3.13e-5 |
SMART |
|
IGc2
|
3718 |
3783 |
3.3e-4 |
SMART |
|
IGc2
|
3806 |
3871 |
5.84e-5 |
SMART |
|
IGc2
|
3894 |
3959 |
1.29e-6 |
SMART |
|
IG_like
|
3982 |
4047 |
5.5e-1 |
SMART |
|
IGc2
|
4054 |
4119 |
1.46e-5 |
SMART |
|
IGc2
|
4142 |
4207 |
1.25e-4 |
SMART |
|
IGc2
|
4230 |
4295 |
1.56e-5 |
SMART |
|
IGc2
|
4318 |
4383 |
1.19e-5 |
SMART |
|
IG_like
|
4400 |
4479 |
2.1e1 |
SMART |
|
IGc2
|
4495 |
4560 |
1.93e-5 |
SMART |
|
IGc2
|
4583 |
4648 |
3.91e-6 |
SMART |
|
IG
|
4665 |
4743 |
1.85e-7 |
SMART |
|
IG
|
4753 |
4831 |
1.03e-5 |
SMART |
|
IGc2
|
4847 |
4912 |
5.08e-5 |
SMART |
|
IGc2
|
4935 |
5001 |
5.08e-5 |
SMART |
|
IGc2
|
5024 |
5090 |
1.11e-5 |
SMART |
|
IGc2
|
5113 |
5181 |
6.71e-5 |
SMART |
|
IG
|
5198 |
5280 |
2.06e-5 |
SMART |
|
low complexity region
|
5307 |
5321 |
N/A |
INTRINSIC |
|
IG
|
5377 |
5459 |
1.04e-1 |
SMART |
|
IG
|
5469 |
5551 |
9.12e-7 |
SMART |
|
FN3
|
5554 |
5636 |
2.44e-14 |
SMART |
|
IG
|
5658 |
5740 |
3.68e-2 |
SMART |
|
IQ
|
5900 |
5922 |
3.65e-4 |
SMART |
|
IGc2
|
5939 |
6007 |
8.72e-4 |
SMART |
|
low complexity region
|
6015 |
6031 |
N/A |
INTRINSIC |
|
low complexity region
|
6032 |
6048 |
N/A |
INTRINSIC |
|
low complexity region
|
6051 |
6074 |
N/A |
INTRINSIC |
|
IGc2
|
6169 |
6237 |
3.25e-12 |
SMART |
|
low complexity region
|
6250 |
6266 |
N/A |
INTRINSIC |
|
IG
|
6296 |
6380 |
1.55e0 |
SMART |
|
IGc2
|
6412 |
6485 |
1.82e-6 |
SMART |
|
low complexity region
|
6599 |
6629 |
N/A |
INTRINSIC |
|
SH3
|
6632 |
6695 |
1.22e0 |
SMART |
|
Pfam:RhoGEF
|
6726 |
6904 |
2.8e-22 |
PFAM |
|
PH
|
6925 |
7035 |
2.74e-11 |
SMART |
|
IGc2
|
7055 |
7123 |
3.73e-12 |
SMART |
|
IGc2
|
7149 |
7218 |
1.18e-14 |
SMART |
|
low complexity region
|
7259 |
7273 |
N/A |
INTRINSIC |
|
low complexity region
|
7274 |
7301 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047441
AA Change: R758G
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000038264
Gene: ENSMUSG00000061462
AA Change: R758G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
21 |
88 |
8e-12 |
SMART |
|
IGc2
|
121 |
190 |
8.31e-10 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
316 |
4.63e-8 |
SMART |
|
IG
|
337 |
417 |
5.32e-8 |
SMART |
|
IG_like
|
425 |
506 |
1.5e2 |
SMART |
|
FN3
|
510 |
596 |
2.11e-9 |
SMART |
|
IG
|
711 |
790 |
2.39e-1 |
SMART |
|
IGc2
|
876 |
942 |
2.54e-5 |
SMART |
|
IGc2
|
968 |
1034 |
2.54e-5 |
SMART |
|
IGc2
|
1060 |
1126 |
4.49e-6 |
SMART |
|
IGc2
|
1152 |
1218 |
7.82e-6 |
SMART |
|
IGc2
|
1244 |
1310 |
5.16e-6 |
SMART |
|
IGc2
|
1336 |
1402 |
1.93e-5 |
SMART |
|
IGc2
|
1428 |
1494 |
1.93e-5 |
SMART |
|
IGc2
|
1520 |
1586 |
1.93e-5 |
SMART |
|
IGc2
|
1612 |
1678 |
1.93e-5 |
SMART |
|
IGc2
|
1704 |
1770 |
1.93e-5 |
SMART |
|
IGc2
|
1796 |
1862 |
7.94e-7 |
SMART |
|
IG
|
1882 |
1962 |
5.37e-4 |
SMART |
|
IG
|
1972 |
2051 |
9.93e-8 |
SMART |
|
IG
|
2062 |
2141 |
2.48e-8 |
SMART |
|
IG
|
2151 |
2230 |
3.89e-1 |
SMART |
|
IG
|
2240 |
2319 |
1.92e0 |
SMART |
|
IG
|
2329 |
2407 |
6.45e-7 |
SMART |
|
IG
|
2452 |
2531 |
1.22e-7 |
SMART |
|
IGc2
|
2637 |
2703 |
9.93e-8 |
SMART |
|
low complexity region
|
2705 |
2716 |
N/A |
INTRINSIC |
|
IG
|
2720 |
2799 |
2.44e0 |
SMART |
|
IGc2
|
2815 |
2881 |
2.1e-6 |
SMART |
|
IG
|
2898 |
2979 |
2.86e0 |
SMART |
|
IGc2
|
2995 |
3061 |
8.38e-6 |
SMART |
|
IG
|
3078 |
3157 |
1.2e-6 |
SMART |
|
IG
|
3167 |
3248 |
1.42e-3 |
SMART |
|
IGc2
|
3264 |
3330 |
3.85e-5 |
SMART |
|
IGc2
|
3353 |
3419 |
3.13e-5 |
SMART |
|
IGc2
|
3442 |
3507 |
3.3e-4 |
SMART |
|
IGc2
|
3530 |
3595 |
5.84e-5 |
SMART |
|
IGc2
|
3618 |
3683 |
1.29e-6 |
SMART |
|
IG_like
|
3706 |
3771 |
3.16e-1 |
SMART |
|
IGc2
|
3779 |
3844 |
1.46e-5 |
SMART |
|
IGc2
|
3867 |
3932 |
1.56e-5 |
SMART |
|
IGc2
|
3955 |
4020 |
1.19e-5 |
SMART |
|
IGc2
|
4043 |
4108 |
1.93e-5 |
SMART |
|
IG
|
4125 |
4203 |
1.85e-7 |
SMART |
|
IGc2
|
4219 |
4285 |
5.08e-5 |
SMART |
|
IGc2
|
4308 |
4374 |
1.11e-5 |
SMART |
|
IGc2
|
4397 |
4465 |
6.71e-5 |
SMART |
|
IG
|
4482 |
4564 |
2.06e-5 |
SMART |
|
IG
|
4574 |
4655 |
5.01e-4 |
SMART |
|
IG
|
4664 |
4746 |
1.04e-1 |
SMART |
|
FN3
|
4749 |
4831 |
2.44e-14 |
SMART |
|
IG
|
4858 |
4940 |
3.68e-2 |
SMART |
|
IQ
|
5100 |
5122 |
3.65e-4 |
SMART |
|
IGc2
|
5139 |
5207 |
8.72e-4 |
SMART |
|
low complexity region
|
5215 |
5231 |
N/A |
INTRINSIC |
|
low complexity region
|
5232 |
5248 |
N/A |
INTRINSIC |
|
low complexity region
|
5251 |
5274 |
N/A |
INTRINSIC |
|
IGc2
|
5369 |
5437 |
3.25e-12 |
SMART |
|
low complexity region
|
5450 |
5466 |
N/A |
INTRINSIC |
|
IG
|
5496 |
5580 |
1.55e0 |
SMART |
|
IGc2
|
5612 |
5685 |
1.82e-6 |
SMART |
|
low complexity region
|
5799 |
5829 |
N/A |
INTRINSIC |
|
SH3
|
5832 |
5895 |
1.22e0 |
SMART |
|
Pfam:RhoGEF
|
5926 |
6104 |
4.5e-21 |
PFAM |
|
PH
|
6125 |
6235 |
2.74e-11 |
SMART |
|
IGc2
|
6255 |
6323 |
3.73e-12 |
SMART |
|
IGc2
|
6349 |
6418 |
1.18e-14 |
SMART |
|
IGc2
|
6464 |
6531 |
1.7e-6 |
SMART |
|
S_TKc
|
6562 |
6815 |
1.66e-79 |
SMART |
|
Blast:STYKc
|
6843 |
6935 |
5e-39 |
BLAST |
|
low complexity region
|
6939 |
6954 |
N/A |
INTRINSIC |
|
low complexity region
|
7013 |
7029 |
N/A |
INTRINSIC |
|
low complexity region
|
7146 |
7161 |
N/A |
INTRINSIC |
|
low complexity region
|
7199 |
7219 |
N/A |
INTRINSIC |
|
low complexity region
|
7499 |
7514 |
N/A |
INTRINSIC |
|
IGc2
|
7538 |
7606 |
6.3e-10 |
SMART |
|
FN3
|
7620 |
7698 |
9.33e-2 |
SMART |
|
STYKc
|
7736 |
7988 |
8.55e-41 |
SMART |
|
|---|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052872
AA Change: R758G
PolyPhen 2
Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000049737
Gene: ENSMUSG00000061462
AA Change: R758G
| Domain | Start | End | E-Value | Type |
|---|
|
IGc2
|
21 |
88 |
8e-12 |
SMART |
|
IGc2
|
121 |
190 |
8.31e-10 |
SMART |
|
low complexity region
|
191 |
207 |
N/A |
INTRINSIC |
|
IGc2
|
248 |
316 |
4.63e-8 |
SMART |
|
IG
|
337 |
417 |
5.32e-8 |
SMART |
|
IG_like
|
425 |
506 |
1.5e2 |
SMART |
|
FN3
|
510 |
596 |
2.11e-9 |
SMART |
|
IG
|
711 |
790 |
2.39e-1 |
SMART |
|
IGc2
|
809 |
875 |
4.49e-6 |
SMART |
|
IGc2
|
901 |
967 |
2.54e-5 |
SMART |
|
IGc2
|
993 |
1059 |
2.54e-5 |
SMART |
|
IGc2
|
1085 |
1151 |
4.49e-6 |
SMART |
|
IGc2
|
1177 |
1243 |
7.82e-6 |
SMART |
|
IGc2
|
1269 |
1335 |
5.16e-6 |
SMART |
|
IGc2
|
1361 |
1427 |
1.93e-5 |
SMART |
|
IGc2
|
1453 |
1519 |
1.93e-5 |
SMART |
|
IGc2
|
1545 |
1611 |
1.93e-5 |
SMART |
|
IGc2
|
1637 |
1703 |
1.93e-5 |
SMART |
|
IGc2
|
1729 |
1795 |
1.93e-5 |
SMART |
|
IGc2
|
1821 |
1887 |
1.93e-5 |
SMART |
|
IGc2
|
1913 |
1979 |
7.94e-7 |
SMART |
|
IGc2
|
2005 |
2071 |
6.35e-6 |
SMART |
|
IG
|
2091 |
2171 |
5.37e-4 |
SMART |
|
IG
|
2181 |
2260 |
9.93e-8 |
SMART |
|
IG
|
2271 |
2350 |
2.48e-8 |
SMART |
|
IG
|
2360 |
2439 |
3.89e-1 |
SMART |
|
IG
|
2449 |
2528 |
1.92e0 |
SMART |
|
IG
|
2538 |
2616 |
6.45e-7 |
SMART |
|
IG
|
2661 |
2740 |
1.22e-7 |
SMART |
|
IGc2
|
2846 |
2912 |
9.93e-8 |
SMART |
|
low complexity region
|
2914 |
2925 |
N/A |
INTRINSIC |
|
IG
|
2929 |
3008 |
2.44e0 |
SMART |
|
IGc2
|
3024 |
3090 |
2.1e-6 |
SMART |
|
IG
|
3107 |
3188 |
2.86e0 |
SMART |
|
IGc2
|
3204 |
3270 |
8.38e-6 |
SMART |
|
IG
|
3287 |
3366 |
1.2e-6 |
SMART |
|
IG
|
3376 |
3457 |
1.42e-3 |
SMART |
|
IGc2
|
3473 |
3539 |
3.85e-5 |
SMART |
|
IGc2
|
3562 |
3628 |
3.13e-5 |
SMART |
|
IGc2
|
3651 |
3716 |
3.3e-4 |
SMART |
|
IGc2
|
3739 |
3804 |
5.84e-5 |
SMART |
|
IGc2
|
3827 |
3892 |
1.29e-6 |
SMART |
|
IG_like
|
3915 |
3980 |
3.16e-1 |
SMART |
|
IGc2
|
3988 |
4053 |
1.46e-5 |
SMART |
|
IGc2
|
4076 |
4141 |
1.25e-4 |
SMART |
|
IGc2
|
4164 |
4229 |
1.56e-5 |
SMART |
|
IGc2
|
4252 |
4317 |
1.19e-5 |
SMART |
|
IGc2
|
4340 |
4405 |
1.93e-5 |
SMART |
|
IGc2
|
4428 |
4493 |
3.91e-6 |
SMART |
|
IG
|
4510 |
4588 |
1.85e-7 |
SMART |
|
IG
|
4598 |
4676 |
1.03e-5 |
SMART |
|
IGc2
|
4692 |
4757 |
5.08e-5 |
SMART |
|
IGc2
|
4780 |
4846 |
5.08e-5 |
SMART |
|
IGc2
|
4869 |
4935 |
1.11e-5 |
SMART |
|
IGc2
|
4958 |
5026 |
6.71e-5 |
SMART |
|
IG
|
5043 |
5125 |
2.06e-5 |
SMART |
|
IG
|
5135 |
5216 |
5.01e-4 |
SMART |
|
IG
|
5225 |
5307 |
1.04e-1 |
SMART |
|
IG
|
5317 |
5399 |
9.12e-7 |
SMART |
|
FN3
|
5402 |
5484 |
2.44e-14 |
SMART |
|
IG
|
5511 |
5593 |
3.68e-2 |
SMART |
|
IQ
|
5753 |
5775 |
3.65e-4 |
SMART |
|
IGc2
|
5792 |
5860 |
8.72e-4 |
SMART |
|
low complexity region
|
5868 |
5884 |
N/A |
INTRINSIC |
|
low complexity region
|
5885 |
5901 |
N/A |
INTRINSIC |
|
low complexity region
|
5904 |
5927 |
N/A |
INTRINSIC |
|
IGc2
|
6022 |
6090 |
3.25e-12 |
SMART |
|
low complexity region
|
6103 |
6119 |
N/A |
INTRINSIC |
|
IG
|
6149 |
6233 |
1.55e0 |
SMART |
|
IGc2
|
6265 |
6338 |
1.82e-6 |
SMART |
|
low complexity region
|
6452 |
6482 |
N/A |
INTRINSIC |
|
SH3
|
6485 |
6548 |
1.22e0 |
SMART |
|
Pfam:RhoGEF
|
6579 |
6757 |
2.1e-21 |
PFAM |
|
PH
|
6778 |
6888 |
2.74e-11 |
SMART |
|
IGc2
|
6908 |
6976 |
3.73e-12 |
SMART |
|
IGc2
|
7002 |
7071 |
1.18e-14 |
SMART |
|
low complexity region
|
7112 |
7126 |
N/A |
INTRINSIC |
|
low complexity region
|
7127 |
7154 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219084
AA Change: R758G
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
|---|
| Meta Mutation Damage Score |
0.1795
|
|---|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: The obscurin gene spans more than 150 kb, contains over 80 exons and encodes a protein of approximately 800 kDa. The encoded protein contains 68 Ig domains, 2 fibronectin domains, 1 calcium/calmodulin-binding domain, 1 RhoGEF domain with an associated PH domain, and 2 serine-threonine kinase domains. This protein is one of three giant sacromeric signaling proteins that includes titin and nebulin. It may have a role in the organization of myofibrils during assembly and also may mediate interactions between the sarcoplasmic reticulum and myofibrils. Alternatively spliced transcript variants encoding different isoforms have been described although the full-length nature is not known for all splicing variants. [provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit centrally localized nuclei in muscle fibers and mild myopathy in aged mice. [provided by MGI curators]
|
|---|
| Allele List at MGI |
All alleles(1) : Targeted, other(1)
|
|---|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Clec4f |
CTT |
CT |
6: 83,653,265 |
|
probably null |
Het |
| Dis3l |
T |
A |
9: 64,307,497 |
Q930L |
probably benign |
Het |
| Edem2 |
T |
C |
2: 155,713,359 |
K275E |
probably benign |
Het |
| Ehf |
T |
C |
2: 103,267,124 |
I193V |
possibly damaging |
Het |
| Gsdma3 |
A |
G |
11: 98,638,004 |
N428S |
possibly damaging |
Het |
| Gtf2h4 |
C |
A |
17: 35,671,225 |
|
probably null |
Het |
| Kcnd3 |
C |
T |
3: 105,658,766 |
A421V |
probably damaging |
Het |
| Naalad2 |
A |
T |
9: 18,335,021 |
|
probably null |
Het |
| Ndufa8 |
C |
T |
2: 36,036,542 |
A161T |
probably benign |
Het |
| Nlrp14 |
A |
T |
7: 107,182,662 |
L355F |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,930,752 |
E26K |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,575,398 |
I1047T |
probably benign |
Het |
| Pcolce2 |
G |
A |
9: 95,678,405 |
W169* |
probably null |
Het |
| Plxdc2 |
A |
G |
2: 16,512,190 |
D94G |
probably benign |
Het |
| Rp1 |
A |
T |
1: 4,345,959 |
Y1643* |
probably null |
Het |
| Skint4 |
A |
G |
4: 112,118,205 |
T121A |
possibly damaging |
Het |
| Speg |
A |
G |
1: 75,430,465 |
I3133V |
possibly damaging |
Het |
| Top2b |
T |
G |
14: 16,409,189 |
I777M |
probably damaging |
Het |
| Trim34a |
T |
A |
7: 104,261,055 |
S355T |
probably damaging |
Het |
| Trpv6 |
T |
G |
6: 41,626,111 |
N276H |
probably damaging |
Het |
| Vps8 |
T |
C |
16: 21,568,413 |
V1175A |
probably damaging |
Het |
|
|---|
| Other mutations in Obscn |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00160:Obscn
|
APN |
11 |
59002057 |
missense |
probably benign |
0.01 |
|
IGL00417:Obscn
|
APN |
11 |
59006788 |
missense |
unknown |
|
|
IGL01018:Obscn
|
APN |
11 |
59128069 |
missense |
probably damaging |
0.99 |
|
IGL01083:Obscn
|
APN |
11 |
59036093 |
missense |
probably damaging |
0.99 |
|
IGL01109:Obscn
|
APN |
11 |
59133762 |
missense |
probably damaging |
1.00 |
|
IGL01139:Obscn
|
APN |
11 |
59078352 |
missense |
probably damaging |
1.00 |
|
IGL01361:Obscn
|
APN |
11 |
59028889 |
missense |
probably damaging |
0.99 |
|
IGL01370:Obscn
|
APN |
11 |
58995563 |
critical splice acceptor site |
probably null |
|
|
IGL01409:Obscn
|
APN |
11 |
59031058 |
missense |
probably damaging |
1.00 |
|
IGL01432:Obscn
|
APN |
11 |
59033757 |
missense |
probably benign |
0.27 |
|
IGL01527:Obscn
|
APN |
11 |
59064417 |
missense |
possibly damaging |
0.83 |
|
IGL01543:Obscn
|
APN |
11 |
59042117 |
missense |
probably benign |
0.01 |
|
IGL01578:Obscn
|
APN |
11 |
58999680 |
missense |
unknown |
|
|
IGL01603:Obscn
|
APN |
11 |
59037805 |
missense |
probably damaging |
1.00 |
|
IGL01750:Obscn
|
APN |
11 |
59031639 |
missense |
probably damaging |
1.00 |
|
IGL01765:Obscn
|
APN |
11 |
59115784 |
missense |
possibly damaging |
0.58 |
|
IGL01805:Obscn
|
APN |
11 |
59132596 |
missense |
probably damaging |
0.99 |
|
IGL01816:Obscn
|
APN |
11 |
58995779 |
splice site |
probably benign |
|
|
IGL01885:Obscn
|
APN |
11 |
59074968 |
missense |
possibly damaging |
0.60 |
|
IGL01911:Obscn
|
APN |
11 |
59008595 |
nonsense |
probably null |
|
|
IGL01963:Obscn
|
APN |
11 |
59020541 |
missense |
probably benign |
0.16 |
|
IGL02012:Obscn
|
APN |
11 |
59076507 |
missense |
probably benign |
0.03 |
|
IGL02096:Obscn
|
APN |
11 |
59080704 |
missense |
probably damaging |
0.98 |
|
IGL02125:Obscn
|
APN |
11 |
59093326 |
missense |
possibly damaging |
0.95 |
|
IGL02125:Obscn
|
APN |
11 |
59022362 |
missense |
probably damaging |
1.00 |
|
IGL02203:Obscn
|
APN |
11 |
59082308 |
missense |
probably damaging |
1.00 |
|
IGL02232:Obscn
|
APN |
11 |
59038978 |
missense |
probably damaging |
0.97 |
|
IGL02262:Obscn
|
APN |
11 |
59028533 |
missense |
possibly damaging |
0.88 |
|
IGL02304:Obscn
|
APN |
11 |
59076622 |
missense |
probably damaging |
1.00 |
|
IGL02306:Obscn
|
APN |
11 |
58999671 |
missense |
unknown |
|
|
IGL02323:Obscn
|
APN |
11 |
59008522 |
missense |
possibly damaging |
0.51 |
|
IGL02341:Obscn
|
APN |
11 |
59135825 |
missense |
probably benign |
0.09 |
|
IGL02342:Obscn
|
APN |
11 |
59001088 |
missense |
probably benign |
0.00 |
|
IGL02352:Obscn
|
APN |
11 |
59001027 |
missense |
probably benign |
0.10 |
|
IGL02397:Obscn
|
APN |
11 |
59076899 |
missense |
possibly damaging |
0.67 |
|
IGL02405:Obscn
|
APN |
11 |
59132602 |
missense |
probably damaging |
0.96 |
|
IGL02427:Obscn
|
APN |
11 |
59067162 |
missense |
probably damaging |
1.00 |
|
IGL02479:Obscn
|
APN |
11 |
59056227 |
splice site |
probably benign |
|
|
IGL02512:Obscn
|
APN |
11 |
59028517 |
missense |
probably damaging |
1.00 |
|
IGL02566:Obscn
|
APN |
11 |
59068147 |
missense |
probably damaging |
1.00 |
|
IGL02613:Obscn
|
APN |
11 |
59002132 |
missense |
probably benign |
0.03 |
|
IGL02634:Obscn
|
APN |
11 |
59054785 |
missense |
probably damaging |
1.00 |
|
IGL02680:Obscn
|
APN |
11 |
59000020 |
missense |
unknown |
|
|
IGL02715:Obscn
|
APN |
11 |
59080311 |
missense |
probably benign |
0.25 |
|
IGL02718:Obscn
|
APN |
11 |
59077858 |
missense |
probably damaging |
1.00 |
|
IGL02723:Obscn
|
APN |
11 |
59124620 |
missense |
probably benign |
0.17 |
|
IGL02735:Obscn
|
APN |
11 |
59093349 |
missense |
probably damaging |
1.00 |
|
IGL02951:Obscn
|
APN |
11 |
58994513 |
splice site |
probably benign |
|
|
IGL03004:Obscn
|
APN |
11 |
59028587 |
missense |
probably damaging |
1.00 |
|
IGL03078:Obscn
|
APN |
11 |
59078798 |
splice site |
probably null |
|
|
IGL03114:Obscn
|
APN |
11 |
59000539 |
missense |
unknown |
|
|
IGL03125:Obscn
|
APN |
11 |
59061648 |
missense |
probably damaging |
1.00 |
|
IGL03150:Obscn
|
APN |
11 |
59051723 |
missense |
probably damaging |
1.00 |
|
IGL03156:Obscn
|
APN |
11 |
59054896 |
missense |
probably damaging |
1.00 |
|
IGL03169:Obscn
|
APN |
11 |
59073296 |
missense |
probably damaging |
1.00 |
|
IGL03297:Obscn
|
APN |
11 |
59060886 |
missense |
possibly damaging |
0.83 |
|
IGL03326:Obscn
|
APN |
11 |
59032902 |
missense |
probably damaging |
1.00 |
|
IGL03345:Obscn
|
APN |
11 |
58995482 |
unclassified |
probably benign |
|
|
IGL03348:Obscn
|
APN |
11 |
59050362 |
missense |
probably damaging |
1.00 |
|
IGL03355:Obscn
|
APN |
11 |
59037792 |
missense |
probably damaging |
1.00 |
|
IGL03377:Obscn
|
APN |
11 |
58999873 |
missense |
probably damaging |
1.00 |
|
IGL03396:Obscn
|
APN |
11 |
59073578 |
missense |
probably benign |
0.12 |
|
IGL03405:Obscn
|
APN |
11 |
59000124 |
missense |
unknown |
|
|
Bull
|
UTSW |
11 |
59032918 |
missense |
possibly damaging |
0.85 |
|
ducking
|
UTSW |
11 |
59080969 |
unclassified |
probably benign |
|
|
Goose
|
UTSW |
11 |
59050480 |
missense |
probably benign |
0.23 |
|
Obscurity
|
UTSW |
11 |
58994700 |
nonsense |
probably null |
|
|
Tallow
|
UTSW |
11 |
59076993 |
missense |
possibly damaging |
0.95 |
|
IGL02802:Obscn
|
UTSW |
11 |
59000484 |
missense |
unknown |
|
|
N/A - 535:Obscn
|
UTSW |
11 |
59000308 |
missense |
possibly damaging |
0.67 |
|
PIT4131001:Obscn
|
UTSW |
11 |
59067064 |
critical splice donor site |
probably null |
|
|
PIT4453001:Obscn
|
UTSW |
11 |
59060976 |
missense |
probably damaging |
1.00 |
|
PIT4453001:Obscn
|
UTSW |
11 |
59069834 |
missense |
possibly damaging |
0.76 |
|
PIT4504001:Obscn
|
UTSW |
11 |
59133122 |
missense |
probably damaging |
1.00 |
|
PIT4651001:Obscn
|
UTSW |
11 |
59041681 |
missense |
probably damaging |
0.99 |
|
R0033:Obscn
|
UTSW |
11 |
58994746 |
unclassified |
probably benign |
|
|
R0041:Obscn
|
UTSW |
11 |
59043977 |
missense |
probably damaging |
1.00 |
|
R0042:Obscn
|
UTSW |
11 |
59052585 |
missense |
probably damaging |
1.00 |
|
R0064:Obscn
|
UTSW |
11 |
59027466 |
missense |
probably damaging |
1.00 |
|
R0064:Obscn
|
UTSW |
11 |
59027466 |
missense |
probably damaging |
1.00 |
|
R0071:Obscn
|
UTSW |
11 |
59064201 |
missense |
possibly damaging |
0.85 |
|
R0077:Obscn
|
UTSW |
11 |
59051521 |
splice site |
probably benign |
|
|
R0083:Obscn
|
UTSW |
11 |
59022374 |
missense |
probably damaging |
1.00 |
|
R0089:Obscn
|
UTSW |
11 |
59000062 |
missense |
unknown |
|
|
R0092:Obscn
|
UTSW |
11 |
59051247 |
missense |
possibly damaging |
0.96 |
|
R0103:Obscn
|
UTSW |
11 |
59062696 |
nonsense |
probably null |
|
|
R0103:Obscn
|
UTSW |
11 |
59062696 |
nonsense |
probably null |
|
|
R0108:Obscn
|
UTSW |
11 |
59022374 |
missense |
probably damaging |
1.00 |
|
R0152:Obscn
|
UTSW |
11 |
59052576 |
missense |
probably benign |
0.06 |
|
R0268:Obscn
|
UTSW |
11 |
59067272 |
missense |
possibly damaging |
0.78 |
|
R0271:Obscn
|
UTSW |
11 |
59056742 |
intron |
probably benign |
|
|
R0281:Obscn
|
UTSW |
11 |
59038615 |
missense |
probably damaging |
1.00 |
|
R0329:Obscn
|
UTSW |
11 |
59040441 |
missense |
probably damaging |
1.00 |
|
R0329:Obscn
|
UTSW |
11 |
59052506 |
missense |
probably damaging |
1.00 |
|
R0360:Obscn
|
UTSW |
11 |
59128281 |
missense |
probably benign |
0.22 |
|
R0364:Obscn
|
UTSW |
11 |
59128281 |
missense |
probably benign |
0.22 |
|
R0382:Obscn
|
UTSW |
11 |
59040306 |
missense |
probably damaging |
1.00 |
|
R0386:Obscn
|
UTSW |
11 |
59136339 |
missense |
probably damaging |
1.00 |
|
R0403:Obscn
|
UTSW |
11 |
59076540 |
missense |
probably damaging |
1.00 |
|
R0413:Obscn
|
UTSW |
11 |
59002997 |
missense |
probably benign |
0.03 |
|
R0437:Obscn
|
UTSW |
11 |
58995088 |
unclassified |
probably benign |
|
|
R0442:Obscn
|
UTSW |
11 |
59002174 |
splice site |
probably benign |
|
|
R0445:Obscn
|
UTSW |
11 |
58999335 |
missense |
unknown |
|
|
R0446:Obscn
|
UTSW |
11 |
58995412 |
unclassified |
probably benign |
|
|
R0454:Obscn
|
UTSW |
11 |
58999623 |
missense |
unknown |
|
|
R0463:Obscn
|
UTSW |
11 |
59061530 |
missense |
probably benign |
0.07 |
|
R0479:Obscn
|
UTSW |
11 |
59112707 |
missense |
probably damaging |
1.00 |
|
R0480:Obscn
|
UTSW |
11 |
59133946 |
nonsense |
probably null |
|
|
R0504:Obscn
|
UTSW |
11 |
59008507 |
critical splice donor site |
probably null |
|
|
R0507:Obscn
|
UTSW |
11 |
59029341 |
missense |
probably damaging |
1.00 |
|
R0513:Obscn
|
UTSW |
11 |
59061522 |
missense |
possibly damaging |
0.81 |
|
R0541:Obscn
|
UTSW |
11 |
59081984 |
missense |
probably damaging |
1.00 |
|
R0551:Obscn
|
UTSW |
11 |
59107862 |
nonsense |
probably null |
|
|
R0573:Obscn
|
UTSW |
11 |
59036079 |
missense |
probably damaging |
1.00 |
|
R0599:Obscn
|
UTSW |
11 |
59073696 |
missense |
probably damaging |
1.00 |
|
R0637:Obscn
|
UTSW |
11 |
59051644 |
missense |
probably damaging |
1.00 |
|
R0637:Obscn
|
UTSW |
11 |
59082776 |
missense |
probably damaging |
0.96 |
|
R0653:Obscn
|
UTSW |
11 |
59007708 |
unclassified |
probably benign |
|
|
R0712:Obscn
|
UTSW |
11 |
59049445 |
missense |
possibly damaging |
0.72 |
|
R0715:Obscn
|
UTSW |
11 |
59050480 |
missense |
probably benign |
0.23 |
|
R0729:Obscn
|
UTSW |
11 |
59032709 |
missense |
probably damaging |
1.00 |
|
R0741:Obscn
|
UTSW |
11 |
59063453 |
frame shift |
probably null |
|
|
R0745:Obscn
|
UTSW |
11 |
59082239 |
missense |
probably benign |
0.14 |
|
R0751:Obscn
|
UTSW |
11 |
59081819 |
missense |
probably damaging |
1.00 |
|
R0834:Obscn
|
UTSW |
11 |
59133278 |
missense |
probably benign |
0.25 |
|
R0863:Obscn
|
UTSW |
11 |
58995415 |
unclassified |
probably benign |
|
|
R0909:Obscn
|
UTSW |
11 |
59075064 |
missense |
probably damaging |
1.00 |
|
R0965:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R0969:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R0980:Obscn
|
UTSW |
11 |
58998061 |
missense |
possibly damaging |
0.92 |
|
R1017:Obscn
|
UTSW |
11 |
58998353 |
missense |
unknown |
|
|
R1103:Obscn
|
UTSW |
11 |
59021483 |
missense |
probably damaging |
1.00 |
|
R1107:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R1128:Obscn
|
UTSW |
11 |
59028943 |
missense |
probably null |
0.71 |
|
R1164:Obscn
|
UTSW |
11 |
59036087 |
missense |
possibly damaging |
0.65 |
|
R1192:Obscn
|
UTSW |
11 |
59067199 |
missense |
probably benign |
0.33 |
|
R1298:Obscn
|
UTSW |
11 |
59054897 |
missense |
possibly damaging |
0.65 |
|
R1331:Obscn
|
UTSW |
11 |
59086928 |
missense |
probably benign |
0.09 |
|
R1333:Obscn
|
UTSW |
11 |
59080317 |
missense |
probably damaging |
0.99 |
|
R1341:Obscn
|
UTSW |
11 |
59029372 |
splice site |
probably benign |
|
|
R1385:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R1386:Obscn
|
UTSW |
11 |
59133853 |
missense |
probably damaging |
1.00 |
|
R1390:Obscn
|
UTSW |
11 |
59093448 |
missense |
probably damaging |
1.00 |
|
R1460:Obscn
|
UTSW |
11 |
59055966 |
missense |
probably damaging |
1.00 |
|
R1495:Obscn
|
UTSW |
11 |
59080160 |
missense |
probably damaging |
0.99 |
|
R1496:Obscn
|
UTSW |
11 |
59031036 |
missense |
probably benign |
0.01 |
|
R1524:Obscn
|
UTSW |
11 |
59115855 |
missense |
probably damaging |
1.00 |
|
R1526:Obscn
|
UTSW |
11 |
59028586 |
missense |
probably damaging |
1.00 |
|
R1537:Obscn
|
UTSW |
11 |
59000749 |
missense |
unknown |
|
|
R1554:Obscn
|
UTSW |
11 |
59003648 |
missense |
unknown |
|
|
R1561:Obscn
|
UTSW |
11 |
59036073 |
missense |
probably damaging |
1.00 |
|
R1589:Obscn
|
UTSW |
11 |
59036075 |
missense |
possibly damaging |
0.89 |
|
R1615:Obscn
|
UTSW |
11 |
59099825 |
missense |
probably benign |
0.09 |
|
R1627:Obscn
|
UTSW |
11 |
59112638 |
missense |
probably benign |
0.14 |
|
R1634:Obscn
|
UTSW |
11 |
59076896 |
missense |
probably damaging |
1.00 |
|
R1636:Obscn
|
UTSW |
11 |
59122637 |
missense |
probably damaging |
1.00 |
|
R1681:Obscn
|
UTSW |
11 |
59103325 |
missense |
probably damaging |
1.00 |
|
R1686:Obscn
|
UTSW |
11 |
59106287 |
splice site |
probably benign |
|
|
R1713:Obscn
|
UTSW |
11 |
59079886 |
missense |
probably damaging |
1.00 |
|
R1730:Obscn
|
UTSW |
11 |
59073633 |
missense |
probably damaging |
1.00 |
|
R1781:Obscn
|
UTSW |
11 |
59106337 |
missense |
probably damaging |
1.00 |
|
R1783:Obscn
|
UTSW |
11 |
59073633 |
missense |
probably damaging |
1.00 |
|
R1793:Obscn
|
UTSW |
11 |
59077780 |
missense |
probably damaging |
1.00 |
|
R1796:Obscn
|
UTSW |
11 |
59029337 |
missense |
possibly damaging |
0.94 |
|
R1801:Obscn
|
UTSW |
11 |
58998321 |
missense |
unknown |
|
|
R1824:Obscn
|
UTSW |
11 |
58994832 |
unclassified |
probably benign |
|
|
R1856:Obscn
|
UTSW |
11 |
59040296 |
missense |
probably damaging |
1.00 |
|
R1866:Obscn
|
UTSW |
11 |
59060915 |
missense |
probably benign |
0.34 |
|
R1878:Obscn
|
UTSW |
11 |
58995553 |
missense |
probably damaging |
0.99 |
|
R1883:Obscn
|
UTSW |
11 |
59078203 |
missense |
probably damaging |
1.00 |
|
R1926:Obscn
|
UTSW |
11 |
59063474 |
missense |
possibly damaging |
0.69 |
|
R1967:Obscn
|
UTSW |
11 |
59135709 |
nonsense |
probably null |
|
|
R1975:Obscn
|
UTSW |
11 |
59067729 |
missense |
probably damaging |
1.00 |
|
R1992:Obscn
|
UTSW |
11 |
58995827 |
unclassified |
probably benign |
|
|
R2021:Obscn
|
UTSW |
11 |
59067174 |
missense |
probably benign |
0.40 |
|
R2066:Obscn
|
UTSW |
11 |
59135732 |
missense |
possibly damaging |
0.59 |
|
R2074:Obscn
|
UTSW |
11 |
59069281 |
missense |
probably damaging |
0.99 |
|
R2074:Obscn
|
UTSW |
11 |
59132652 |
missense |
probably damaging |
1.00 |
|
R2081:Obscn
|
UTSW |
11 |
59034182 |
missense |
possibly damaging |
0.90 |
|
R2083:Obscn
|
UTSW |
11 |
59073631 |
nonsense |
probably null |
|
|
R2086:Obscn
|
UTSW |
11 |
59078256 |
missense |
probably damaging |
0.99 |
|
R2095:Obscn
|
UTSW |
11 |
59093584 |
splice site |
probably null |
|
|
R2098:Obscn
|
UTSW |
11 |
59069991 |
missense |
probably damaging |
1.00 |
|
R2114:Obscn
|
UTSW |
11 |
59131658 |
missense |
probably damaging |
0.99 |
|
R2138:Obscn
|
UTSW |
11 |
59003665 |
nonsense |
probably null |
|
|
R2193:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2194:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2210:Obscn
|
UTSW |
11 |
59068087 |
missense |
probably damaging |
1.00 |
|
R2233:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2234:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2288:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2351:Obscn
|
UTSW |
11 |
59112612 |
missense |
probably damaging |
0.99 |
|
R2376:Obscn
|
UTSW |
11 |
59069124 |
missense |
probably damaging |
1.00 |
|
R2384:Obscn
|
UTSW |
11 |
59042837 |
critical splice donor site |
probably null |
|
|
R2401:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2402:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2403:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2424:Obscn
|
UTSW |
11 |
58994451 |
unclassified |
probably benign |
|
|
R2433:Obscn
|
UTSW |
11 |
59039086 |
unclassified |
probably null |
|
|
R2445:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2446:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2447:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2449:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2483:Obscn
|
UTSW |
11 |
59080146 |
missense |
probably damaging |
1.00 |
|
R2484:Obscn
|
UTSW |
11 |
59007540 |
unclassified |
probably benign |
|
|
R2496:Obscn
|
UTSW |
11 |
59103442 |
missense |
probably damaging |
1.00 |
|
R2510:Obscn
|
UTSW |
11 |
59042314 |
splice site |
probably benign |
|
|
R2851:Obscn
|
UTSW |
11 |
59030018 |
critical splice donor site |
probably null |
|
|
R2878:Obscn
|
UTSW |
11 |
59056188 |
missense |
possibly damaging |
0.94 |
|
R2879:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2885:Obscn
|
UTSW |
11 |
59086748 |
missense |
probably damaging |
1.00 |
|
R2885:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2886:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R2985:Obscn
|
UTSW |
11 |
59133089 |
missense |
probably damaging |
1.00 |
|
R3013:Obscn
|
UTSW |
11 |
59060918 |
missense |
probably damaging |
1.00 |
|
R3118:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3236:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3237:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3432:Obscn
|
UTSW |
11 |
59031177 |
missense |
probably damaging |
1.00 |
|
R3694:Obscn
|
UTSW |
11 |
59078395 |
missense |
probably damaging |
1.00 |
|
R3716:Obscn
|
UTSW |
11 |
59082661 |
missense |
probably damaging |
1.00 |
|
R3717:Obscn
|
UTSW |
11 |
59082661 |
missense |
probably damaging |
1.00 |
|
R3743:Obscn
|
UTSW |
11 |
59079085 |
missense |
probably damaging |
0.99 |
|
R3760:Obscn
|
UTSW |
11 |
59028580 |
missense |
probably damaging |
1.00 |
|
R3795:Obscn
|
UTSW |
11 |
59031841 |
missense |
probably damaging |
1.00 |
|
R3857:Obscn
|
UTSW |
11 |
59080969 |
unclassified |
probably benign |
|
|
R3858:Obscn
|
UTSW |
11 |
59080969 |
unclassified |
probably benign |
|
|
R3862:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3863:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3864:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3881:Obscn
|
UTSW |
11 |
59056949 |
missense |
probably damaging |
1.00 |
|
R3890:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3903:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3923:Obscn
|
UTSW |
11 |
59060928 |
missense |
possibly damaging |
0.96 |
|
R3944:Obscn
|
UTSW |
11 |
59132547 |
missense |
probably damaging |
1.00 |
|
R3947:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3948:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R3955:Obscn
|
UTSW |
11 |
59036768 |
missense |
probably damaging |
1.00 |
|
R3970:Obscn
|
UTSW |
11 |
59051662 |
missense |
probably damaging |
1.00 |
|
R3971:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4001:Obscn
|
UTSW |
11 |
59134569 |
missense |
probably damaging |
1.00 |
|
R4005:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4017:Obscn
|
UTSW |
11 |
59132622 |
missense |
probably damaging |
1.00 |
|
R4028:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4029:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4041:Obscn
|
UTSW |
11 |
59051531 |
nonsense |
probably null |
|
|
R4061:Obscn
|
UTSW |
11 |
59008532 |
missense |
probably damaging |
1.00 |
|
R4062:Obscn
|
UTSW |
11 |
59082710 |
missense |
probably damaging |
0.99 |
|
R4072:Obscn
|
UTSW |
11 |
58997183 |
missense |
unknown |
|
|
R4078:Obscn
|
UTSW |
11 |
59038363 |
missense |
probably benign |
0.41 |
|
R4079:Obscn
|
UTSW |
11 |
59038363 |
missense |
probably benign |
0.41 |
|
R4092:Obscn
|
UTSW |
11 |
59056060 |
missense |
probably benign |
0.12 |
|
R4106:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4108:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4403:Obscn
|
UTSW |
11 |
59069093 |
missense |
possibly damaging |
0.95 |
|
R4477:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4478:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4480:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4489:Obscn
|
UTSW |
11 |
59031591 |
missense |
possibly damaging |
0.74 |
|
R4531:Obscn
|
UTSW |
11 |
59007874 |
unclassified |
probably benign |
|
|
R4551:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4552:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4553:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4558:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
R4570:Obscn
|
UTSW |
11 |
59006828 |
splice site |
probably null |
|
|
R4575:Obscn
|
UTSW |
11 |
59122772 |
missense |
probably damaging |
0.99 |
|
R4593:Obscn
|
UTSW |
11 |
59133249 |
missense |
probably damaging |
1.00 |
|
R4604:Obscn
|
UTSW |
11 |
59080205 |
missense |
probably damaging |
1.00 |
|
R4604:Obscn
|
UTSW |
11 |
59122746 |
missense |
probably damaging |
0.96 |
|
R4625:Obscn
|
UTSW |
11 |
59067258 |
missense |
probably damaging |
1.00 |
|
R4646:Obscn
|
UTSW |
11 |
59124570 |
nonsense |
probably null |
|
|
R4651:Obscn
|
UTSW |
11 |
59038877 |
missense |
probably damaging |
1.00 |
|
R4652:Obscn
|
UTSW |
11 |
59038877 |
missense |
probably damaging |
1.00 |
|
R4657:Obscn
|
UTSW |
11 |
59042290 |
missense |
probably damaging |
1.00 |
|
R4658:Obscn
|
UTSW |
11 |
59054288 |
nonsense |
probably null |
|
|
R4662:Obscn
|
UTSW |
11 |
58999596 |
missense |
unknown |
|
|
R4665:Obscn
|
UTSW |
11 |
59124752 |
missense |
probably damaging |
1.00 |
|
R4718:Obscn
|
UTSW |
11 |
59021954 |
missense |
probably damaging |
1.00 |
|
R4736:Obscn
|
UTSW |
11 |
59063536 |
missense |
probably damaging |
1.00 |
|
R4746:Obscn
|
UTSW |
11 |
59079808 |
critical splice donor site |
probably null |
|
|
R4754:Obscn
|
UTSW |
11 |
59036043 |
missense |
possibly damaging |
0.81 |
|
R4758:Obscn
|
UTSW |
11 |
59003363 |
missense |
unknown |
|
|
R4758:Obscn
|
UTSW |
11 |
59135917 |
missense |
probably damaging |
0.98 |
|
R4766:Obscn
|
UTSW |
11 |
59012742 |
missense |
probably damaging |
1.00 |
|
R4798:Obscn
|
UTSW |
11 |
59069859 |
missense |
probably damaging |
0.99 |
|
R4810:Obscn
|
UTSW |
11 |
59031591 |
missense |
possibly damaging |
0.74 |
|
R4819:Obscn
|
UTSW |
11 |
59038848 |
missense |
probably damaging |
0.97 |
|
R4821:Obscn
|
UTSW |
11 |
59006826 |
splice site |
probably benign |
|
|
R4821:Obscn
|
UTSW |
11 |
59040467 |
missense |
probably damaging |
1.00 |
|
R4822:Obscn
|
UTSW |
11 |
59022333 |
missense |
probably benign |
0.11 |
|
R4828:Obscn
|
UTSW |
11 |
59086670 |
missense |
possibly damaging |
0.93 |
|
R4829:Obscn
|
UTSW |
11 |
59054246 |
missense |
probably null |
0.53 |
|
R4830:Obscn
|
UTSW |
11 |
59067607 |
missense |
probably damaging |
1.00 |
|
R4859:Obscn
|
UTSW |
11 |
59082023 |
missense |
possibly damaging |
0.89 |
|
R4870:Obscn
|
UTSW |
11 |
59136206 |
missense |
probably damaging |
1.00 |
|
R4909:Obscn
|
UTSW |
11 |
59061465 |
missense |
possibly damaging |
0.52 |
|
R4955:Obscn
|
UTSW |
11 |
59069172 |
missense |
probably benign |
0.31 |
|
R4973:Obscn
|
UTSW |
11 |
59132466 |
missense |
probably damaging |
1.00 |
|
R4993:Obscn
|
UTSW |
11 |
59124761 |
missense |
possibly damaging |
0.48 |
|
R5034:Obscn
|
UTSW |
11 |
59061676 |
nonsense |
probably null |
|
|
R5054:Obscn
|
UTSW |
11 |
59073617 |
missense |
probably damaging |
1.00 |
|
R5077:Obscn
|
UTSW |
11 |
59044057 |
missense |
probably damaging |
0.98 |
|
R5126:Obscn
|
UTSW |
11 |
59077063 |
missense |
probably damaging |
1.00 |
|
R5135:Obscn
|
UTSW |
11 |
59129653 |
missense |
probably damaging |
1.00 |
|
R5161:Obscn
|
UTSW |
11 |
59028604 |
missense |
probably damaging |
1.00 |
|
R5161:Obscn
|
UTSW |
11 |
59064310 |
missense |
possibly damaging |
0.60 |
|
R5195:Obscn
|
UTSW |
11 |
59060850 |
missense |
possibly damaging |
0.78 |
|
R5222:Obscn
|
UTSW |
11 |
59044145 |
missense |
possibly damaging |
0.80 |
|
R5260:Obscn
|
UTSW |
11 |
59003369 |
missense |
probably damaging |
1.00 |
|
R5301:Obscn
|
UTSW |
11 |
59135408 |
missense |
probably damaging |
1.00 |
|
R5305:Obscn
|
UTSW |
11 |
59012715 |
missense |
possibly damaging |
0.83 |
|
R5323:Obscn
|
UTSW |
11 |
58996877 |
missense |
probably benign |
|
|
R5333:Obscn
|
UTSW |
11 |
59062692 |
missense |
probably damaging |
1.00 |
|
R5366:Obscn
|
UTSW |
11 |
59080260 |
missense |
probably damaging |
1.00 |
|
R5368:Obscn
|
UTSW |
11 |
59069026 |
critical splice donor site |
probably null |
|
|
R5408:Obscn
|
UTSW |
11 |
59051611 |
missense |
probably damaging |
1.00 |
|
R5439:Obscn
|
UTSW |
11 |
59000128 |
nonsense |
probably null |
|
|
R5536:Obscn
|
UTSW |
11 |
59107871 |
missense |
probably damaging |
1.00 |
|
R5561:Obscn
|
UTSW |
11 |
59036093 |
missense |
probably damaging |
0.99 |
|
R5573:Obscn
|
UTSW |
11 |
59034705 |
missense |
possibly damaging |
0.94 |
|
R5582:Obscn
|
UTSW |
11 |
59099976 |
splice site |
probably null |
|
|
R5586:Obscn
|
UTSW |
11 |
59001468 |
nonsense |
probably null |
|
|
R5607:Obscn
|
UTSW |
11 |
59122848 |
missense |
probably benign |
0.22 |
|
R5700:Obscn
|
UTSW |
11 |
59133194 |
missense |
probably benign |
0.37 |
|
R5706:Obscn
|
UTSW |
11 |
59076256 |
missense |
probably damaging |
1.00 |
|
R5718:Obscn
|
UTSW |
11 |
59036808 |
missense |
probably damaging |
1.00 |
|
R5771:Obscn
|
UTSW |
11 |
59000707 |
missense |
unknown |
|
|
R5772:Obscn
|
UTSW |
11 |
59056144 |
missense |
probably damaging |
0.99 |
|
R5786:Obscn
|
UTSW |
11 |
59032691 |
missense |
probably damaging |
1.00 |
|
R5807:Obscn
|
UTSW |
11 |
59079650 |
missense |
probably damaging |
1.00 |
|
R5815:Obscn
|
UTSW |
11 |
59082189 |
splice site |
probably null |
|
|
R5835:Obscn
|
UTSW |
11 |
59002081 |
missense |
probably benign |
0.03 |
|
R5835:Obscn
|
UTSW |
11 |
59042127 |
missense |
probably damaging |
1.00 |
|
R5846:Obscn
|
UTSW |
11 |
59038609 |
missense |
probably damaging |
1.00 |
|
R5851:Obscn
|
UTSW |
11 |
58994700 |
nonsense |
probably null |
|
|
R5933:Obscn
|
UTSW |
11 |
58998505 |
missense |
unknown |
|
|
R5935:Obscn
|
UTSW |
11 |
59006813 |
missense |
unknown |
|
|
R5974:Obscn
|
UTSW |
11 |
59076547 |
missense |
probably damaging |
1.00 |
|
R5975:Obscn
|
UTSW |
11 |
59122619 |
critical splice donor site |
probably null |
|
|
R6014:Obscn
|
UTSW |
11 |
59038864 |
missense |
probably damaging |
1.00 |
|
R6026:Obscn
|
UTSW |
11 |
59067090 |
missense |
probably damaging |
0.98 |
|
R6082:Obscn
|
UTSW |
11 |
58999567 |
missense |
unknown |
|
|
R6124:Obscn
|
UTSW |
11 |
59079044 |
missense |
probably benign |
0.45 |
|
R6130:Obscn
|
UTSW |
11 |
59077945 |
missense |
possibly damaging |
0.90 |
|
R6160:Obscn
|
UTSW |
11 |
59051785 |
missense |
probably damaging |
1.00 |
|
R6169:Obscn
|
UTSW |
11 |
59000499 |
missense |
unknown |
|
|
R6177:Obscn
|
UTSW |
11 |
59032664 |
missense |
probably damaging |
1.00 |
|
R6189:Obscn
|
UTSW |
11 |
59069934 |
missense |
probably benign |
0.00 |
|
R6192:Obscn
|
UTSW |
11 |
58998038 |
missense |
unknown |
|
|
R6195:Obscn
|
UTSW |
11 |
58997207 |
missense |
probably damaging |
0.98 |
|
R6208:Obscn
|
UTSW |
11 |
59067648 |
missense |
possibly damaging |
0.81 |
|
R6232:Obscn
|
UTSW |
11 |
59052511 |
nonsense |
probably null |
|
|
R6233:Obscn
|
UTSW |
11 |
58997207 |
missense |
probably damaging |
0.98 |
|
R6273:Obscn
|
UTSW |
11 |
59076993 |
missense |
possibly damaging |
0.95 |
|
R6280:Obscn
|
UTSW |
11 |
59063683 |
missense |
possibly damaging |
0.82 |
|
R6317:Obscn
|
UTSW |
11 |
59069895 |
missense |
probably damaging |
1.00 |
|
R6345:Obscn
|
UTSW |
11 |
59053696 |
missense |
probably damaging |
0.99 |
|
R6378:Obscn
|
UTSW |
11 |
59073746 |
missense |
probably damaging |
1.00 |
|
R6382:Obscn
|
UTSW |
11 |
58999413 |
missense |
unknown |
|
|
R6382:Obscn
|
UTSW |
11 |
59042208 |
missense |
probably damaging |
0.99 |
|
R6415:Obscn
|
UTSW |
11 |
59035130 |
missense |
probably damaging |
0.99 |
|
R6433:Obscn
|
UTSW |
11 |
59051558 |
missense |
probably benign |
0.14 |
|
R6457:Obscn
|
UTSW |
11 |
59080771 |
missense |
probably damaging |
0.99 |
|
R6508:Obscn
|
UTSW |
11 |
59054147 |
splice site |
probably null |
|
|
R6611:Obscn
|
UTSW |
11 |
59064230 |
synonymous |
probably null |
|
|
R6614:Obscn
|
UTSW |
11 |
59012801 |
missense |
probably benign |
0.01 |
|
R6645:Obscn
|
UTSW |
11 |
59085262 |
missense |
probably damaging |
0.97 |
|
R6646:Obscn
|
UTSW |
11 |
59082718 |
missense |
possibly damaging |
0.72 |
|
R6659:Obscn
|
UTSW |
11 |
59039009 |
missense |
probably damaging |
1.00 |
|
R6723:Obscn
|
UTSW |
11 |
59054998 |
missense |
probably damaging |
0.99 |
|
R6733:Obscn
|
UTSW |
11 |
59028595 |
missense |
probably damaging |
0.99 |
|
R6755:Obscn
|
UTSW |
11 |
59103326 |
missense |
probably damaging |
1.00 |
|
R6770:Obscn
|
UTSW |
11 |
59044036 |
missense |
possibly damaging |
0.88 |
|
R6820:Obscn
|
UTSW |
11 |
59051193 |
missense |
probably damaging |
1.00 |
|
R6823:Obscn
|
UTSW |
11 |
59067943 |
critical splice donor site |
probably null |
|
|
R6850:Obscn
|
UTSW |
11 |
59002129 |
missense |
possibly damaging |
0.92 |
|
R6850:Obscn
|
UTSW |
11 |
59068124 |
missense |
possibly damaging |
0.93 |
|
R6862:Obscn
|
UTSW |
11 |
58995453 |
unclassified |
probably benign |
|
|
R6884:Obscn
|
UTSW |
11 |
59078302 |
missense |
probably damaging |
1.00 |
|
R6894:Obscn
|
UTSW |
11 |
59132682 |
missense |
probably benign |
0.43 |
|
R6906:Obscn
|
UTSW |
11 |
59032918 |
missense |
possibly damaging |
0.85 |
|
R6944:Obscn
|
UTSW |
11 |
59038930 |
missense |
probably damaging |
1.00 |
|
R6948:Obscn
|
UTSW |
11 |
59106316 |
missense |
probably damaging |
1.00 |
|
R6959:Obscn
|
UTSW |
11 |
59037585 |
missense |
probably damaging |
1.00 |
|
R7000:Obscn
|
UTSW |
11 |
59136038 |
missense |
probably damaging |
1.00 |
|
R7028:Obscn
|
UTSW |
11 |
59079133 |
missense |
probably damaging |
1.00 |
|
R7037:Obscn
|
UTSW |
11 |
59043929 |
missense |
probably damaging |
1.00 |
|
R7037:Obscn
|
UTSW |
11 |
59052604 |
missense |
probably damaging |
0.98 |
|
R7056:Obscn
|
UTSW |
11 |
58996296 |
unclassified |
probably benign |
|
|
R7112:Obscn
|
UTSW |
11 |
59029325 |
missense |
|
|
|
R7121:Obscn
|
UTSW |
11 |
59013252 |
nonsense |
probably null |
|
|
R7123:Obscn
|
UTSW |
11 |
59013651 |
missense |
probably benign |
|
|
R7182:Obscn
|
UTSW |
11 |
59035101 |
missense |
probably damaging |
0.99 |
|
R7199:Obscn
|
UTSW |
11 |
59012846 |
missense |
probably benign |
0.09 |
|
R7209:Obscn
|
UTSW |
11 |
59085107 |
nonsense |
probably null |
|
|
R7235:Obscn
|
UTSW |
11 |
59080840 |
missense |
probably damaging |
0.98 |
|
R7247:Obscn
|
UTSW |
11 |
59103318 |
nonsense |
probably null |
|
|
R7262:Obscn
|
UTSW |
11 |
59115889 |
missense |
probably damaging |
0.99 |
|
R7269:Obscn
|
UTSW |
11 |
59043012 |
missense |
probably damaging |
0.99 |
|
R7270:Obscn
|
UTSW |
11 |
59029486 |
missense |
|
|
|
R7274:Obscn
|
UTSW |
11 |
59133227 |
missense |
probably damaging |
1.00 |
|
R7312:Obscn
|
UTSW |
11 |
59055616 |
missense |
probably benign |
0.00 |
|
R7313:Obscn
|
UTSW |
11 |
59007588 |
missense |
unknown |
|
|
R7360:Obscn
|
UTSW |
11 |
59082359 |
missense |
probably damaging |
1.00 |
|
R7380:Obscn
|
UTSW |
11 |
59056914 |
missense |
|
|
|
R7389:Obscn
|
UTSW |
11 |
59036400 |
missense |
probably benign |
0.02 |
|
R7402:Obscn
|
UTSW |
11 |
58995449 |
missense |
unknown |
|
|
R7417:Obscn
|
UTSW |
11 |
59129577 |
missense |
possibly damaging |
0.93 |
|
R7432:Obscn
|
UTSW |
11 |
59028907 |
missense |
|
|
|
R7456:Obscn
|
UTSW |
11 |
59008558 |
missense |
probably benign |
0.01 |
|
R7459:Obscn
|
UTSW |
11 |
59131657 |
missense |
probably benign |
0.00 |
|
R7463:Obscn
|
UTSW |
11 |
59122860 |
missense |
probably benign |
0.02 |
|
R7478:Obscn
|
UTSW |
11 |
59093416 |
missense |
probably damaging |
1.00 |
|
R7498:Obscn
|
UTSW |
11 |
59082713 |
missense |
probably damaging |
1.00 |
|
R7502:Obscn
|
UTSW |
11 |
58994809 |
missense |
unknown |
|
|
R7509:Obscn
|
UTSW |
11 |
59051629 |
missense |
probably benign |
0.36 |
|
R7516:Obscn
|
UTSW |
11 |
59124590 |
nonsense |
probably null |
|
|
R7545:Obscn
|
UTSW |
11 |
59038899 |
missense |
probably damaging |
1.00 |
|
R7549:Obscn
|
UTSW |
11 |
59042838 |
critical splice donor site |
probably null |
|
|
R7582:Obscn
|
UTSW |
11 |
59061427 |
nonsense |
probably null |
|
|
R7607:Obscn
|
UTSW |
11 |
58998265 |
missense |
unknown |
|
|
R7609:Obscn
|
UTSW |
11 |
59000299 |
missense |
unknown |
|
|
R7647:Obscn
|
UTSW |
11 |
58997287 |
critical splice acceptor site |
probably null |
|
|
R7650:Obscn
|
UTSW |
11 |
59060994 |
missense |
probably benign |
0.01 |
|
R7673:Obscn
|
UTSW |
11 |
59027437 |
missense |
|
|
|
R7743:Obscn
|
UTSW |
11 |
59099777 |
missense |
probably damaging |
1.00 |
|
R7745:Obscn
|
UTSW |
11 |
59060855 |
missense |
probably damaging |
1.00 |
|
R7823:Obscn
|
UTSW |
11 |
59107940 |
missense |
probably damaging |
1.00 |
|
X0010:Obscn
|
UTSW |
11 |
58995553 |
unclassified |
probably benign |
|
|
X0012:Obscn
|
UTSW |
11 |
59006776 |
missense |
unknown |
|
|
X0021:Obscn
|
UTSW |
11 |
59077906 |
missense |
probably damaging |
0.96 |
|
X0058:Obscn
|
UTSW |
11 |
59035968 |
missense |
probably damaging |
1.00 |
|
X0061:Obscn
|
UTSW |
11 |
59077830 |
missense |
probably damaging |
1.00 |
|
X0063:Obscn
|
UTSW |
11 |
59000056 |
missense |
unknown |
|
|
X0067:Obscn
|
UTSW |
11 |
59131801 |
missense |
probably benign |
0.19 |
|
Y4336:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
Y4337:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
Y4338:Obscn
|
UTSW |
11 |
59131646 |
missense |
possibly damaging |
0.90 |
|
Y5407:Obscn
|
UTSW |
11 |
59021943 |
missense |
probably damaging |
0.97 |
|
|---|
| Predicted Primers |
PCR Primer
(F):5'- TCAGACCATGCCTGGAGCTC -3'
(R):5'- TTAACCACCCCTGACCTGTAG -3'
Sequencing Primer
(F):5'- GCTCCGGGACAGAGAATACAC -3'
(R):5'- TGACCTGTAGCGGCTCTG -3'
|
|---|
| Posted On | 2014-10-30 |
|---|
