Incidental Mutation 'IGL01099:Ush1c'
| ID |
51532 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ush1c
|
| Ensembl Gene |
ENSMUSG00000030838 |
| Gene Name |
USH1 protein network component harmonin |
| Synonyms |
harmonin, Usher syndrome 1C, 2010016F01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45854686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 689
(S689P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009667]
[ENSMUST00000078680]
[ENSMUST00000143155]
[ENSMUST00000154292]
[ENSMUST00000176371]
[ENSMUST00000177212]
[ENSMUST00000222454]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000009667
AA Change: S689P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: S689P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
96 |
168 |
3.06e-19 |
SMART |
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
PDZ
|
220 |
292 |
5.62e-18 |
SMART |
|
coiled coil region
|
301 |
376 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
612 |
N/A |
INTRINSIC |
|
PDZ
|
762 |
841 |
1.13e-13 |
SMART |
|
low complexity region
|
846 |
860 |
N/A |
INTRINSIC |
|
low complexity region
|
899 |
910 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000078680
|
| SMART Domains |
Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
96 |
168 |
3.06e-19 |
SMART |
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
PDZ
|
220 |
292 |
5.62e-18 |
SMART |
|
coiled coil region
|
301 |
376 |
N/A |
INTRINSIC |
|
PDZ
|
458 |
537 |
1.13e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129266
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000143155
AA Change: S689P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: S689P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
96 |
168 |
3.06e-19 |
SMART |
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
PDZ
|
220 |
292 |
5.62e-18 |
SMART |
|
coiled coil region
|
301 |
376 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
612 |
N/A |
INTRINSIC |
|
PDZ
|
762 |
841 |
1.13e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148527
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154292
AA Change: S689P
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: S689P
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
96 |
168 |
3.06e-19 |
SMART |
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
PDZ
|
220 |
292 |
5.62e-18 |
SMART |
|
coiled coil region
|
301 |
376 |
N/A |
INTRINSIC |
|
coiled coil region
|
419 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
515 |
529 |
N/A |
INTRINSIC |
|
low complexity region
|
562 |
596 |
N/A |
INTRINSIC |
|
low complexity region
|
600 |
612 |
N/A |
INTRINSIC |
|
PDZ
|
762 |
841 |
1.13e-13 |
SMART |
|
low complexity region
|
846 |
860 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000176371
|
| SMART Domains |
Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
65 |
137 |
3.06e-19 |
SMART |
|
low complexity region
|
159 |
172 |
N/A |
INTRINSIC |
|
PDZ
|
189 |
261 |
5.62e-18 |
SMART |
|
coiled coil region
|
270 |
345 |
N/A |
INTRINSIC |
|
PDZ
|
427 |
506 |
1.13e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211426
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177212
|
| SMART Domains |
Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
96 |
168 |
3.06e-19 |
SMART |
|
low complexity region
|
190 |
203 |
N/A |
INTRINSIC |
|
PDZ
|
220 |
291 |
6.13e-10 |
SMART |
|
low complexity region
|
313 |
325 |
N/A |
INTRINSIC |
|
low complexity region
|
339 |
357 |
N/A |
INTRINSIC |
|
PDZ
|
439 |
518 |
1.13e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000222454
AA Change: S689P
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mutations at this locus affect hearing and result in movement anomalies generally associated with vestibular mutants, such as head tossing and circling. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,965,031 (GRCm39) |
|
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,874,778 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,367,411 (GRCm39) |
I560M |
probably benign |
Het |
| Alpl |
G |
A |
4: 137,470,624 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,598,265 (GRCm39) |
G753D |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,090,480 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,717,055 (GRCm39) |
C329S |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,658,504 (GRCm39) |
D188G |
probably damaging |
Het |
| Car10 |
G |
A |
11: 93,469,516 (GRCm39) |
E164K |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,497 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,905,690 (GRCm39) |
R562* |
probably null |
Het |
| Colec12 |
C |
T |
18: 9,848,826 (GRCm39) |
R335C |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,488 (GRCm39) |
|
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,517,188 (GRCm39) |
D72G |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,922 (GRCm39) |
L1335P |
probably benign |
Het |
| F5 |
T |
G |
1: 164,021,903 (GRCm39) |
N1459K |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,965,894 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
A |
6: 29,433,617 (GRCm39) |
V54M |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,517,966 (GRCm39) |
I607V |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,875 (GRCm39) |
S864P |
unknown |
Het |
| Glod4 |
T |
A |
11: 76,130,376 (GRCm39) |
K36* |
probably null |
Het |
| Gm6619 |
G |
A |
6: 131,467,393 (GRCm39) |
R86Q |
possibly damaging |
Het |
| Gm7052 |
T |
C |
17: 22,258,706 (GRCm39) |
|
probably benign |
Het |
| Gyg1 |
A |
T |
3: 20,205,211 (GRCm39) |
M119K |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,702 (GRCm39) |
I81F |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,682 (GRCm39) |
Y118C |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,137,617 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,500,700 (GRCm39) |
H688Q |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,165,591 (GRCm39) |
C330R |
probably damaging |
Het |
| Naa50 |
A |
T |
16: 43,976,832 (GRCm39) |
N23I |
probably damaging |
Het |
| Nt5el |
A |
T |
13: 105,245,868 (GRCm39) |
H143L |
probably benign |
Het |
| Or55b4 |
T |
A |
7: 102,133,685 (GRCm39) |
D214V |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,240 (GRCm39) |
S279P |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,493,373 (GRCm39) |
S267P |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,131,039 (GRCm39) |
S307P |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,653,426 (GRCm39) |
|
probably benign |
Het |
| Phlda2 |
G |
A |
7: 143,055,876 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,946,906 (GRCm39) |
V823L |
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,031,847 (GRCm39) |
H794L |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,885,190 (GRCm39) |
H436L |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,153,970 (GRCm39) |
C159S |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,514,582 (GRCm39) |
V1064D |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,039,092 (GRCm39) |
C557* |
probably null |
Het |
| Slc1a6 |
T |
C |
10: 78,624,831 (GRCm39) |
S79P |
possibly damaging |
Het |
| Snapin |
G |
A |
3: 90,397,909 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
T |
12: 99,881,704 (GRCm39) |
|
probably benign |
Het |
| Tigar |
G |
T |
6: 127,065,108 (GRCm39) |
A180E |
probably benign |
Het |
| Trav6-2 |
A |
T |
14: 52,905,122 (GRCm39) |
T48S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,558,776 (GRCm39) |
Y29702H |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,578 (GRCm39) |
I132F |
probably damaging |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,461 (GRCm39) |
K228* |
probably null |
Het |
| Wdr33 |
C |
A |
18: 32,039,842 (GRCm39) |
|
probably benign |
Het |
| Ybx2 |
A |
T |
11: 69,831,556 (GRCm39) |
Q136L |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,909,076 (GRCm39) |
M368L |
probably damaging |
Het |
|
| Other mutations in Ush1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ush1c
|
APN |
7 |
45,846,194 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01074:Ush1c
|
APN |
7 |
45,874,674 (GRCm39) |
splice site |
probably benign |
|
|
IGL01107:Ush1c
|
APN |
7 |
45,859,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01446:Ush1c
|
APN |
7 |
45,858,380 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02267:Ush1c
|
APN |
7 |
45,858,722 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02307:Ush1c
|
APN |
7 |
45,846,612 (GRCm39) |
splice site |
probably benign |
|
|
IGL02448:Ush1c
|
APN |
7 |
45,858,561 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL02485:Ush1c
|
APN |
7 |
45,878,674 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02896:Ush1c
|
APN |
7 |
45,847,839 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03031:Ush1c
|
APN |
7 |
45,874,361 (GRCm39) |
splice site |
probably benign |
|
|
R0085:Ush1c
|
UTSW |
7 |
45,874,979 (GRCm39) |
missense |
probably benign |
0.09 |
|
R0328:Ush1c
|
UTSW |
7 |
45,874,872 (GRCm39) |
splice site |
probably benign |
|
|
R0574:Ush1c
|
UTSW |
7 |
45,846,228 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0600:Ush1c
|
UTSW |
7 |
45,874,332 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1187:Ush1c
|
UTSW |
7 |
45,858,338 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1406:Ush1c
|
UTSW |
7 |
45,874,965 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1406:Ush1c
|
UTSW |
7 |
45,874,965 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1716:Ush1c
|
UTSW |
7 |
45,845,152 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1727:Ush1c
|
UTSW |
7 |
45,858,655 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1822:Ush1c
|
UTSW |
7 |
45,859,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1864:Ush1c
|
UTSW |
7 |
45,868,816 (GRCm39) |
nonsense |
probably null |
|
|
R2000:Ush1c
|
UTSW |
7 |
45,870,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2063:Ush1c
|
UTSW |
7 |
45,878,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2068:Ush1c
|
UTSW |
7 |
45,878,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2944:Ush1c
|
UTSW |
7 |
45,850,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4042:Ush1c
|
UTSW |
7 |
45,870,952 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4043:Ush1c
|
UTSW |
7 |
45,870,952 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4108:Ush1c
|
UTSW |
7 |
45,847,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4823:Ush1c
|
UTSW |
7 |
45,845,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4862:Ush1c
|
UTSW |
7 |
45,878,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5534:Ush1c
|
UTSW |
7 |
45,870,847 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5922:Ush1c
|
UTSW |
7 |
45,853,552 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6249:Ush1c
|
UTSW |
7 |
45,864,383 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6475:Ush1c
|
UTSW |
7 |
45,878,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6485:Ush1c
|
UTSW |
7 |
45,858,534 (GRCm39) |
missense |
probably benign |
|
|
R6667:Ush1c
|
UTSW |
7 |
45,875,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7177:Ush1c
|
UTSW |
7 |
45,878,643 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7419:Ush1c
|
UTSW |
7 |
45,878,679 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7424:Ush1c
|
UTSW |
7 |
45,874,979 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7811:Ush1c
|
UTSW |
7 |
45,854,710 (GRCm39) |
nonsense |
probably null |
|
|
R7862:Ush1c
|
UTSW |
7 |
45,870,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8182:Ush1c
|
UTSW |
7 |
45,847,775 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8340:Ush1c
|
UTSW |
7 |
45,860,630 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8470:Ush1c
|
UTSW |
7 |
45,858,674 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8478:Ush1c
|
UTSW |
7 |
45,870,857 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9025:Ush1c
|
UTSW |
7 |
45,846,614 (GRCm39) |
splice site |
probably benign |
|
|
R9076:Ush1c
|
UTSW |
7 |
45,850,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9129:Ush1c
|
UTSW |
7 |
45,854,629 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9398:Ush1c
|
UTSW |
7 |
45,869,934 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9418:Ush1c
|
UTSW |
7 |
45,872,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2013-06-21 |
Incidental Mutation