Incidental Mutation 'IGL02307:Ush1c'
| ID |
287669 |
| 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 # |
IGL02307
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 45846612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152126
(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 benign
Transcript: ENSMUST00000009667
|
| SMART Domains |
Protein: ENSMUSP00000009667
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 |
|
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 benign
Transcript: ENSMUST00000143155
|
| SMART Domains |
Protein: ENSMUSP00000119676
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 |
|
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 benign
Transcript: ENSMUST00000154292
|
| SMART Domains |
Protein: ENSMUSP00000114494
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 |
|
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 |
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 benign
Transcript: ENSMUST00000222454
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
G |
3: 121,935,395 (GRCm39) |
D323G |
probably damaging |
Het |
| Ankrd28 |
A |
G |
14: 31,455,665 (GRCm39) |
C417R |
probably damaging |
Het |
| Astn1 |
C |
T |
1: 158,502,184 (GRCm39) |
R1133C |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,229,946 (GRCm39) |
G256V |
probably damaging |
Het |
| Cald1 |
A |
G |
6: 34,730,390 (GRCm39) |
K252E |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,859,686 (GRCm39) |
E985G |
probably damaging |
Het |
| Cdc23 |
A |
G |
18: 34,774,442 (GRCm39) |
I279T |
possibly damaging |
Het |
| Col16a1 |
C |
T |
4: 129,952,802 (GRCm39) |
P416L |
probably damaging |
Het |
| Coro1a |
T |
C |
7: 126,300,736 (GRCm39) |
D197G |
probably damaging |
Het |
| Ctnnd2 |
C |
T |
15: 30,647,357 (GRCm39) |
T351I |
possibly damaging |
Het |
| Fam76b |
A |
G |
9: 13,755,332 (GRCm39) |
N313S |
probably damaging |
Het |
| Fbxw20 |
C |
A |
9: 109,062,601 (GRCm39) |
W75L |
possibly damaging |
Het |
| Gjd2 |
T |
C |
2: 113,842,394 (GRCm39) |
T28A |
possibly damaging |
Het |
| Glyctk |
A |
C |
9: 106,032,963 (GRCm39) |
L350R |
possibly damaging |
Het |
| Gm20726 |
A |
T |
14: 54,870,060 (GRCm39) |
V237D |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,073,016 (GRCm39) |
K422R |
possibly damaging |
Het |
| Gpr22 |
C |
A |
12: 31,758,739 (GRCm39) |
C461F |
possibly damaging |
Het |
| Grhl2 |
A |
G |
15: 37,288,532 (GRCm39) |
T279A |
probably damaging |
Het |
| Gstm3 |
G |
A |
3: 107,874,929 (GRCm39) |
R108C |
probably damaging |
Het |
| Haus6 |
T |
C |
4: 86,502,072 (GRCm39) |
T600A |
possibly damaging |
Het |
| Htra4 |
G |
A |
8: 25,523,710 (GRCm39) |
A285V |
probably damaging |
Het |
| Igkv14-100 |
C |
T |
6: 68,496,349 (GRCm39) |
P81S |
probably damaging |
Het |
| Kif24 |
T |
G |
4: 41,395,274 (GRCm39) |
Q533P |
probably benign |
Het |
| Klhl1 |
A |
T |
14: 96,438,809 (GRCm39) |
N496K |
possibly damaging |
Het |
| Lama3 |
G |
T |
18: 12,714,840 (GRCm39) |
R1667L |
probably benign |
Het |
| Lct |
T |
A |
1: 128,214,327 (GRCm39) |
H1815L |
possibly damaging |
Het |
| Mrgprb2 |
T |
A |
7: 48,202,644 (GRCm39) |
Y27F |
probably benign |
Het |
| Mrpl15 |
A |
T |
1: 4,854,176 (GRCm39) |
H86Q |
possibly damaging |
Het |
| Myo10 |
C |
T |
15: 25,776,401 (GRCm39) |
|
probably benign |
Het |
| Nrp1 |
T |
C |
8: 129,229,201 (GRCm39) |
L893P |
probably damaging |
Het |
| Or4n4b |
A |
C |
14: 50,536,295 (GRCm39) |
I157S |
probably damaging |
Het |
| Or51a8 |
A |
T |
7: 102,550,086 (GRCm39) |
N171Y |
probably benign |
Het |
| Ovol1 |
T |
A |
19: 5,603,643 (GRCm39) |
D86V |
possibly damaging |
Het |
| Pacs2 |
T |
A |
12: 113,034,393 (GRCm39) |
M851K |
probably damaging |
Het |
| Pde1a |
A |
T |
2: 79,736,412 (GRCm39) |
M39K |
possibly damaging |
Het |
| Pdpn |
T |
C |
4: 143,000,550 (GRCm39) |
H94R |
possibly damaging |
Het |
| Plcg2 |
T |
A |
8: 118,306,635 (GRCm39) |
|
probably null |
Het |
| Pzp |
A |
T |
6: 128,466,049 (GRCm39) |
Y1210* |
probably null |
Het |
| Rnf148 |
G |
T |
6: 23,654,890 (GRCm39) |
S35R |
probably benign |
Het |
| Ros1 |
A |
T |
10: 52,004,534 (GRCm39) |
S1008T |
possibly damaging |
Het |
| Rps18-ps6 |
G |
T |
13: 97,896,871 (GRCm39) |
Q76K |
probably benign |
Het |
| Sis |
A |
T |
3: 72,819,167 (GRCm39) |
|
probably benign |
Het |
| Spag9 |
T |
A |
11: 93,992,986 (GRCm39) |
|
probably null |
Het |
| Srbd1 |
A |
G |
17: 86,433,616 (GRCm39) |
L327P |
probably damaging |
Het |
| Steap3 |
A |
T |
1: 120,169,390 (GRCm39) |
Y264* |
probably null |
Het |
| Swap70 |
A |
G |
7: 109,880,501 (GRCm39) |
E572G |
probably benign |
Het |
| Traf7 |
C |
A |
17: 24,732,020 (GRCm39) |
C193F |
possibly damaging |
Het |
| Trmt11 |
T |
C |
10: 30,470,150 (GRCm39) |
D58G |
possibly damaging |
Het |
| Tsc22d1 |
T |
C |
14: 76,653,901 (GRCm39) |
S127P |
probably damaging |
Het |
| Usf1 |
T |
A |
1: 171,243,314 (GRCm39) |
S30R |
probably damaging |
Het |
| Utrn |
A |
T |
10: 12,625,809 (GRCm39) |
L124* |
probably null |
Het |
| Vmn2r75 |
T |
C |
7: 85,814,974 (GRCm39) |
N173S |
probably benign |
Het |
| Zic2 |
T |
C |
14: 122,714,046 (GRCm39) |
V320A |
possibly 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 |
|
|
IGL01099:Ush1c
|
APN |
7 |
45,854,686 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation