Incidental Mutation 'R4108:Ush1c'
ID |
321469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ush1c
|
Ensembl Gene |
ENSMUSG00000030838 |
Gene Name |
USH1 protein network component harmonin |
Synonyms |
harmonin, Usher syndrome 1C, 2010016F01Rik |
MMRRC Submission |
040987-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4108 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 45847869 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 465
(D465N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000134783
(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: D800N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000009667 Gene: ENSMUSG00000030838 AA Change: D800N
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 damaging
Transcript: ENSMUST00000078680
AA Change: D496N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000077747 Gene: ENSMUSG00000030838 AA Change: D496N
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: D800N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119676 Gene: ENSMUSG00000030838 AA Change: D800N
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: D800N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114494 Gene: ENSMUSG00000030838 AA Change: D800N
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 damaging
Transcript: ENSMUST00000176371
AA Change: D465N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000134783 Gene: ENSMUSG00000030838 AA Change: D465N
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 damaging
Transcript: ENSMUST00000177212
AA Change: D477N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000135734 Gene: ENSMUSG00000030838 AA Change: D477N
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: D800N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Meta Mutation Damage Score |
0.8769 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (65/67) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700113H08Rik |
A |
G |
10: 87,061,796 (GRCm39) |
Y82C |
probably damaging |
Het |
4930579F01Rik |
T |
C |
3: 137,889,431 (GRCm39) |
N62S |
probably benign |
Het |
Acad10 |
G |
T |
5: 121,769,527 (GRCm39) |
S643Y |
probably damaging |
Het |
Acox3 |
T |
C |
5: 35,758,896 (GRCm39) |
F369S |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,422,788 (GRCm39) |
S1093P |
probably damaging |
Het |
Atp4b |
A |
G |
8: 13,446,640 (GRCm39) |
|
probably null |
Het |
Bmper |
G |
A |
9: 23,136,059 (GRCm39) |
V47I |
probably benign |
Het |
Caskin1 |
C |
A |
17: 24,721,121 (GRCm39) |
T487K |
probably benign |
Het |
Ccr7 |
C |
T |
11: 99,036,204 (GRCm39) |
M239I |
probably damaging |
Het |
Cdh23 |
C |
A |
10: 60,246,601 (GRCm39) |
V944L |
possibly damaging |
Het |
Cenpf |
A |
G |
1: 189,416,065 (GRCm39) |
S87P |
probably damaging |
Het |
Chd9 |
A |
T |
8: 91,737,304 (GRCm39) |
D1461V |
probably benign |
Het |
Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
Cyb5r2 |
A |
T |
7: 107,353,136 (GRCm39) |
M102K |
probably damaging |
Het |
Cyp2j7 |
T |
C |
4: 96,087,687 (GRCm39) |
T408A |
possibly damaging |
Het |
Dnajb2 |
G |
T |
1: 75,213,543 (GRCm39) |
E6* |
probably null |
Het |
Dtx4 |
G |
A |
19: 12,478,487 (GRCm39) |
A32V |
probably damaging |
Het |
Eml5 |
T |
C |
12: 98,807,807 (GRCm39) |
|
probably null |
Het |
Eml6 |
A |
C |
11: 29,755,136 (GRCm39) |
S880A |
probably damaging |
Het |
Fsd2 |
C |
T |
7: 81,194,715 (GRCm39) |
V483I |
probably benign |
Het |
Inf2 |
T |
C |
12: 112,574,015 (GRCm39) |
L773P |
unknown |
Het |
Kif26b |
A |
G |
1: 178,744,530 (GRCm39) |
Q1095R |
possibly damaging |
Het |
Leprotl1 |
A |
G |
8: 34,607,913 (GRCm39) |
|
probably null |
Het |
Lrp1b |
A |
G |
2: 40,555,099 (GRCm39) |
V340A |
unknown |
Het |
Myh1 |
T |
C |
11: 67,102,403 (GRCm39) |
V898A |
probably benign |
Het |
Ncstn |
G |
T |
1: 171,900,111 (GRCm39) |
N254K |
probably damaging |
Het |
Nfatc1 |
T |
A |
18: 80,741,583 (GRCm39) |
H139L |
possibly damaging |
Het |
Nfe2l1 |
C |
T |
11: 96,710,220 (GRCm39) |
|
probably null |
Het |
Nfya |
G |
T |
17: 48,699,912 (GRCm39) |
Y37* |
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2b6 |
A |
G |
13: 21,822,952 (GRCm39) |
V247A |
probably damaging |
Het |
Or7g26 |
T |
A |
9: 19,230,608 (GRCm39) |
Y265* |
probably null |
Het |
Otogl |
C |
T |
10: 107,607,105 (GRCm39) |
V2093I |
probably benign |
Het |
Phc2 |
A |
G |
4: 128,601,776 (GRCm39) |
Y77C |
probably damaging |
Het |
Pik3c2g |
C |
A |
6: 139,676,096 (GRCm39) |
A80E |
probably benign |
Het |
Plxnd1 |
G |
T |
6: 115,936,276 (GRCm39) |
H1675N |
probably damaging |
Het |
Pou4f3 |
A |
G |
18: 42,528,987 (GRCm39) |
K310R |
probably damaging |
Het |
Ppp1r12c |
T |
C |
7: 4,489,565 (GRCm39) |
D199G |
probably damaging |
Het |
Prss22 |
A |
G |
17: 24,212,847 (GRCm39) |
Y297H |
probably benign |
Het |
Psmb7 |
T |
A |
2: 38,532,211 (GRCm39) |
H78L |
probably damaging |
Het |
Rad51ap2 |
T |
C |
12: 11,508,396 (GRCm39) |
C773R |
probably damaging |
Het |
Rpl12 |
A |
T |
2: 32,851,836 (GRCm39) |
N8Y |
probably damaging |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Sbf1 |
T |
C |
15: 89,172,788 (GRCm39) |
|
probably benign |
Het |
Scn3a |
A |
G |
2: 65,325,379 (GRCm39) |
I1046T |
probably benign |
Het |
Setd1a |
G |
A |
7: 127,398,374 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
G |
T |
16: 36,602,755 (GRCm39) |
|
probably benign |
Het |
Slc34a2 |
G |
A |
5: 53,221,351 (GRCm39) |
V266I |
possibly damaging |
Het |
Smtn |
G |
A |
11: 3,476,449 (GRCm39) |
T144I |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,002,122 (GRCm39) |
N84S |
probably benign |
Het |
Sult6b1 |
G |
T |
17: 79,214,291 (GRCm39) |
T6N |
probably damaging |
Het |
Supt16 |
T |
C |
14: 52,400,188 (GRCm39) |
E985G |
probably damaging |
Het |
Tbcd |
T |
A |
11: 121,384,637 (GRCm39) |
H39Q |
probably benign |
Het |
Tpo |
G |
A |
12: 30,142,585 (GRCm39) |
P713L |
probably damaging |
Het |
Tsg101 |
T |
A |
7: 46,542,242 (GRCm39) |
D99V |
probably damaging |
Het |
Ttn |
G |
C |
2: 76,581,215 (GRCm39) |
A23226G |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,608,809 (GRCm39) |
V15990I |
probably benign |
Het |
Ubald1 |
C |
A |
16: 4,693,731 (GRCm39) |
M61I |
probably benign |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Vps54 |
A |
G |
11: 21,262,877 (GRCm39) |
I655V |
probably benign |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTCTGGACCTTGAGTACCAG -3'
(R):5'- AGTCTAACGGCTCTGCAGAG -3'
Sequencing Primer
(F):5'- ACCTTGAGTACCAGCCCTG -3'
(R):5'- CTCTGCAGAGCCTAGAGAGGAC -3'
|
Posted On |
2015-06-12 |