Incidental Mutation 'R7424:Ush1c'
ID |
575919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ush1c
|
Ensembl Gene |
ENSMUSG00000030838 |
Gene Name |
USH1 protein network component harmonin |
Synonyms |
harmonin, 2010016F01Rik |
MMRRC Submission |
045502-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7424 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
46195350-46238503 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 46225555 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 131
(I131F)
|
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 benign
Transcript: ENSMUST00000009667
AA Change: I162F
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000009667 Gene: ENSMUSG00000030838 AA Change: I162F
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
AA Change: I162F
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000077747 Gene: ENSMUSG00000030838 AA Change: I162F
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 |
probably benign
Transcript: ENSMUST00000143155
AA Change: I162F
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000119676 Gene: ENSMUSG00000030838 AA Change: I162F
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 |
probably benign
Transcript: ENSMUST00000154292
AA Change: I162F
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000114494 Gene: ENSMUSG00000030838 AA Change: I162F
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
AA Change: I131F
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000134783 Gene: ENSMUSG00000030838 AA Change: I131F
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: I162F
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000135734 Gene: ENSMUSG00000030838 AA Change: I162F
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
AA Change: I162F
PolyPhen 2
Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
|
Meta Mutation Damage Score |
0.3329  |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (76/77) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
6430548M08Rik |
C |
T |
8: 120,145,545 (GRCm38) |
R71C |
probably damaging |
Het |
Aanat |
A |
T |
11: 116,595,629 (GRCm38) |
|
probably benign |
Het |
Ahrr |
G |
T |
13: 74,257,545 (GRCm38) |
S91* |
probably null |
Het |
Ampd1 |
A |
T |
3: 103,088,442 (GRCm38) |
N223Y |
probably benign |
Het |
Ankar |
T |
G |
1: 72,680,058 (GRCm38) |
N544T |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,418,750 (GRCm38) |
S302P |
possibly damaging |
Het |
Bcr |
T |
C |
10: 75,157,100 (GRCm38) |
V809A |
probably benign |
Het |
Bpifb2 |
A |
G |
2: 153,890,540 (GRCm38) |
N353S |
possibly damaging |
Het |
Cyth1 |
A |
T |
11: 118,184,009 (GRCm38) |
|
probably null |
Het |
Ddx5 |
A |
T |
11: 106,782,180 (GRCm38) |
N506K |
probably benign |
Het |
Dnaja1 |
A |
T |
4: 40,730,244 (GRCm38) |
I239F |
probably benign |
Het |
Ethe1 |
C |
T |
7: 24,606,251 (GRCm38) |
T141I |
probably damaging |
Het |
Fam160b2 |
T |
C |
14: 70,594,007 (GRCm38) |
H29R |
probably damaging |
Het |
Gdap2 |
A |
T |
3: 100,202,066 (GRCm38) |
I36F |
unknown |
Het |
Gm13030 |
A |
T |
4: 138,871,266 (GRCm38) |
D115E |
unknown |
Het |
Gm13103 |
C |
T |
4: 143,853,209 (GRCm38) |
P455S |
probably benign |
Het |
Gm17019 |
A |
T |
5: 15,029,372 (GRCm38) |
L227Q |
probably damaging |
Het |
Gm9195 |
T |
A |
14: 72,435,777 (GRCm38) |
E2517D |
possibly damaging |
Het |
Gramd2 |
T |
A |
9: 59,708,071 (GRCm38) |
V39D |
possibly damaging |
Het |
Hmcn1 |
C |
T |
1: 150,630,266 (GRCm38) |
W3836* |
probably null |
Het |
Hspa14 |
C |
T |
2: 3,489,041 (GRCm38) |
D494N |
possibly damaging |
Het |
Ifit2 |
A |
G |
19: 34,573,198 (GRCm38) |
N46S |
probably benign |
Het |
Ifna6 |
A |
T |
4: 88,827,807 (GRCm38) |
E131V |
possibly damaging |
Het |
Ift140 |
T |
C |
17: 25,037,036 (GRCm38) |
V504A |
possibly damaging |
Het |
Irgc1 |
T |
C |
7: 24,432,228 (GRCm38) |
N388S |
probably damaging |
Het |
Itgal |
T |
A |
7: 127,317,365 (GRCm38) |
V743E |
probably benign |
Het |
Itih5 |
T |
C |
2: 10,245,637 (GRCm38) |
S716P |
probably damaging |
Het |
Kcnab1 |
A |
T |
3: 65,266,503 (GRCm38) |
K78N |
possibly damaging |
Het |
Kif1a |
A |
T |
1: 93,054,317 (GRCm38) |
V787E |
possibly damaging |
Het |
Krt15 |
A |
T |
11: 100,135,560 (GRCm38) |
V100E |
possibly damaging |
Het |
Krt39 |
A |
T |
11: 99,518,091 (GRCm38) |
V293E |
probably damaging |
Het |
Lrrn4 |
A |
G |
2: 132,869,743 (GRCm38) |
F720S |
possibly damaging |
Het |
Map2 |
G |
A |
1: 66,414,824 (GRCm38) |
A958T |
possibly damaging |
Het |
Map3k9 |
A |
G |
12: 81,724,097 (GRCm38) |
S906P |
probably benign |
Het |
Mdc1 |
T |
C |
17: 35,853,309 (GRCm38) |
S1250P |
probably benign |
Het |
Meltf |
G |
A |
16: 31,884,946 (GRCm38) |
V164I |
probably damaging |
Het |
Mtap |
T |
G |
4: 89,179,462 (GRCm38) |
|
probably null |
Het |
Mtus1 |
C |
A |
8: 41,022,406 (GRCm38) |
V184F |
probably damaging |
Het |
Myh1 |
A |
T |
11: 67,213,663 (GRCm38) |
D1015V |
probably damaging |
Het |
Ndrg1 |
T |
C |
15: 66,944,938 (GRCm38) |
|
probably null |
Het |
Nkd1 |
G |
T |
8: 88,585,175 (GRCm38) |
V130L |
probably benign |
Het |
Nsfl1c |
A |
G |
2: 151,500,753 (GRCm38) |
D81G |
probably benign |
Het |
Nt5c1b |
T |
A |
12: 10,381,391 (GRCm38) |
|
probably null |
Het |
Nucb1 |
T |
C |
7: 45,498,778 (GRCm38) |
K204E |
possibly damaging |
Het |
Nwd1 |
T |
G |
8: 72,675,173 (GRCm38) |
M774R |
possibly damaging |
Het |
Olfr165 |
A |
T |
16: 19,407,194 (GRCm38) |
V274E |
probably damaging |
Het |
Olfr262 |
A |
T |
19: 12,240,954 (GRCm38) |
S236T |
possibly damaging |
Het |
Olfr654 |
G |
C |
7: 104,588,700 (GRCm38) |
E299Q |
probably damaging |
Het |
Pan3 |
T |
A |
5: 147,536,272 (GRCm38) |
|
probably null |
Het |
Pcdh15 |
A |
T |
10: 74,506,485 (GRCm38) |
T1135S |
probably benign |
Het |
Pfas |
A |
G |
11: 69,000,092 (GRCm38) |
I331T |
probably damaging |
Het |
Plxna2 |
T |
A |
1: 194,806,339 (GRCm38) |
I1641N |
probably damaging |
Het |
Ptar1 |
A |
T |
19: 23,718,101 (GRCm38) |
R311W |
probably damaging |
Het |
Ranbp2 |
T |
G |
10: 58,479,194 (GRCm38) |
M1912R |
probably damaging |
Het |
Rbm12 |
A |
G |
2: 156,097,303 (GRCm38) |
F350L |
possibly damaging |
Het |
Sdhaf1 |
T |
C |
7: 30,322,043 (GRCm38) |
D96G |
probably benign |
Het |
Serpinb6b |
T |
A |
13: 32,968,667 (GRCm38) |
M53K |
probably damaging |
Het |
Sh2d6 |
A |
T |
6: 72,517,164 (GRCm38) |
L147Q |
probably benign |
Het |
Slc19a2 |
T |
A |
1: 164,260,876 (GRCm38) |
C298S |
probably benign |
Het |
Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,660,334 (GRCm38) |
|
probably benign |
Het |
St8sia2 |
T |
A |
7: 73,960,902 (GRCm38) |
Q211L |
possibly damaging |
Het |
Sult2a2 |
T |
C |
7: 13,734,897 (GRCm38) |
I96T |
possibly damaging |
Het |
Tab2 |
G |
T |
10: 7,907,483 (GRCm38) |
H678Q |
probably damaging |
Het |
Tnfaip6 |
A |
G |
2: 52,038,216 (GRCm38) |
E14G |
probably benign |
Het |
Trip11 |
A |
T |
12: 101,885,198 (GRCm38) |
L869H |
probably damaging |
Het |
Tslp |
T |
C |
18: 32,819,080 (GRCm38) |
Y133H |
not run |
Het |
Ttn |
A |
G |
2: 76,932,143 (GRCm38) |
V3374A |
unknown |
Het |
Ttn |
T |
C |
2: 76,740,990 (GRCm38) |
I26520V |
probably damaging |
Het |
Tubgcp2 |
T |
A |
7: 140,007,924 (GRCm38) |
I263F |
possibly damaging |
Het |
Uaca |
A |
G |
9: 60,870,110 (GRCm38) |
E593G |
probably damaging |
Het |
Unc13b |
C |
T |
4: 43,172,235 (GRCm38) |
T1021I |
unknown |
Het |
Usp24 |
C |
A |
4: 106,379,107 (GRCm38) |
D997E |
probably benign |
Het |
Usp54 |
T |
C |
14: 20,577,040 (GRCm38) |
T517A |
probably benign |
Het |
Vmn1r151 |
A |
T |
7: 22,499,080 (GRCm38) |
M200K |
possibly damaging |
Het |
Vmn2r43 |
T |
C |
7: 8,255,329 (GRCm38) |
D295G |
probably damaging |
Het |
Vmn2r70 |
G |
A |
7: 85,563,868 (GRCm38) |
P444S |
probably damaging |
Het |
Vmn2r85 |
G |
T |
10: 130,418,980 (GRCm38) |
P612T |
probably damaging |
Het |
Vps13d |
A |
T |
4: 145,148,747 (GRCm38) |
V1736D |
|
Het |
Zbtb11 |
A |
T |
16: 55,990,487 (GRCm38) |
H336L |
probably benign |
Het |
|
Other mutations in Ush1c |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Ush1c
|
APN |
7 |
46,196,770 (GRCm38) |
missense |
probably benign |
0.00 |
IGL01074:Ush1c
|
APN |
7 |
46,225,250 (GRCm38) |
splice site |
probably benign |
|
IGL01099:Ush1c
|
APN |
7 |
46,205,262 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL01107:Ush1c
|
APN |
7 |
46,209,901 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01446:Ush1c
|
APN |
7 |
46,208,956 (GRCm38) |
missense |
possibly damaging |
0.86 |
IGL02267:Ush1c
|
APN |
7 |
46,209,298 (GRCm38) |
missense |
possibly damaging |
0.92 |
IGL02307:Ush1c
|
APN |
7 |
46,197,188 (GRCm38) |
splice site |
probably benign |
|
IGL02448:Ush1c
|
APN |
7 |
46,209,137 (GRCm38) |
missense |
possibly damaging |
0.51 |
IGL02485:Ush1c
|
APN |
7 |
46,229,250 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL02896:Ush1c
|
APN |
7 |
46,198,415 (GRCm38) |
missense |
probably benign |
0.00 |
IGL03031:Ush1c
|
APN |
7 |
46,224,937 (GRCm38) |
splice site |
probably benign |
|
R0085:Ush1c
|
UTSW |
7 |
46,225,555 (GRCm38) |
missense |
probably benign |
0.09 |
R0328:Ush1c
|
UTSW |
7 |
46,225,448 (GRCm38) |
splice site |
probably benign |
|
R0574:Ush1c
|
UTSW |
7 |
46,196,804 (GRCm38) |
missense |
possibly damaging |
0.68 |
R0600:Ush1c
|
UTSW |
7 |
46,224,908 (GRCm38) |
missense |
probably benign |
0.00 |
R1187:Ush1c
|
UTSW |
7 |
46,208,914 (GRCm38) |
missense |
probably benign |
0.01 |
R1406:Ush1c
|
UTSW |
7 |
46,225,541 (GRCm38) |
critical splice donor site |
probably null |
|
R1406:Ush1c
|
UTSW |
7 |
46,225,541 (GRCm38) |
critical splice donor site |
probably null |
|
R1716:Ush1c
|
UTSW |
7 |
46,195,728 (GRCm38) |
missense |
probably benign |
0.18 |
R1727:Ush1c
|
UTSW |
7 |
46,209,231 (GRCm38) |
missense |
probably damaging |
1.00 |
R1822:Ush1c
|
UTSW |
7 |
46,209,901 (GRCm38) |
missense |
probably damaging |
1.00 |
R1864:Ush1c
|
UTSW |
7 |
46,219,392 (GRCm38) |
nonsense |
probably null |
|
R2000:Ush1c
|
UTSW |
7 |
46,221,433 (GRCm38) |
missense |
probably damaging |
0.99 |
R2063:Ush1c
|
UTSW |
7 |
46,229,481 (GRCm38) |
missense |
probably damaging |
1.00 |
R2068:Ush1c
|
UTSW |
7 |
46,229,481 (GRCm38) |
missense |
probably damaging |
1.00 |
R2944:Ush1c
|
UTSW |
7 |
46,200,982 (GRCm38) |
missense |
probably damaging |
1.00 |
R4042:Ush1c
|
UTSW |
7 |
46,221,528 (GRCm38) |
missense |
probably damaging |
0.97 |
R4043:Ush1c
|
UTSW |
7 |
46,221,528 (GRCm38) |
missense |
probably damaging |
0.97 |
R4108:Ush1c
|
UTSW |
7 |
46,198,445 (GRCm38) |
missense |
probably damaging |
1.00 |
R4823:Ush1c
|
UTSW |
7 |
46,195,733 (GRCm38) |
missense |
probably benign |
0.00 |
R4862:Ush1c
|
UTSW |
7 |
46,229,240 (GRCm38) |
missense |
probably damaging |
1.00 |
R5534:Ush1c
|
UTSW |
7 |
46,221,423 (GRCm38) |
missense |
probably damaging |
1.00 |
R5922:Ush1c
|
UTSW |
7 |
46,204,128 (GRCm38) |
critical splice donor site |
probably null |
|
R6249:Ush1c
|
UTSW |
7 |
46,214,959 (GRCm38) |
missense |
probably damaging |
1.00 |
R6475:Ush1c
|
UTSW |
7 |
46,229,219 (GRCm38) |
missense |
probably damaging |
0.99 |
R6485:Ush1c
|
UTSW |
7 |
46,209,110 (GRCm38) |
missense |
probably benign |
|
R6667:Ush1c
|
UTSW |
7 |
46,225,624 (GRCm38) |
missense |
probably damaging |
1.00 |
R7177:Ush1c
|
UTSW |
7 |
46,229,219 (GRCm38) |
missense |
probably damaging |
0.99 |
R7419:Ush1c
|
UTSW |
7 |
46,229,255 (GRCm38) |
missense |
probably damaging |
1.00 |
R7811:Ush1c
|
UTSW |
7 |
46,205,286 (GRCm38) |
nonsense |
probably null |
|
R7862:Ush1c
|
UTSW |
7 |
46,221,424 (GRCm38) |
missense |
probably damaging |
0.99 |
R8182:Ush1c
|
UTSW |
7 |
46,198,351 (GRCm38) |
critical splice donor site |
probably null |
|
R8340:Ush1c
|
UTSW |
7 |
46,211,206 (GRCm38) |
missense |
probably benign |
0.41 |
R8470:Ush1c
|
UTSW |
7 |
46,209,250 (GRCm38) |
missense |
probably damaging |
1.00 |
R8478:Ush1c
|
UTSW |
7 |
46,221,433 (GRCm38) |
missense |
probably damaging |
0.99 |
R9025:Ush1c
|
UTSW |
7 |
46,197,190 (GRCm38) |
splice site |
probably benign |
|
R9076:Ush1c
|
UTSW |
7 |
46,201,056 (GRCm38) |
missense |
probably damaging |
1.00 |
R9129:Ush1c
|
UTSW |
7 |
46,205,205 (GRCm38) |
missense |
probably benign |
0.23 |
R9398:Ush1c
|
UTSW |
7 |
46,220,510 (GRCm38) |
missense |
probably benign |
0.08 |
R9418:Ush1c
|
UTSW |
7 |
46,222,868 (GRCm38) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTAGATCCCAGGACTCTTGGC -3'
(R):5'- GCTTTTGCTTGATGACAGCCC -3'
Sequencing Primer
(F):5'- ACTCTTGGCCTAGAGGAGAC -3'
(R):5'- CCAGGTAGGGGATGAAATT -3'
|
Posted On |
2019-10-07 |