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 |