Incidental Mutation 'R7811:Ush1c'
| ID |
601164 |
| 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 |
045866-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7811 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 45854710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 681
(R681*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009667
(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 null
Transcript: ENSMUST00000009667
AA Change: R681*
|
| SMART Domains |
Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: R681*
| 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 |
probably null
Transcript: ENSMUST00000143155
AA Change: R681*
|
| SMART Domains |
Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: R681*
| 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 null
Transcript: ENSMUST00000154292
AA Change: R681*
|
| SMART Domains |
Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: R681*
| 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 null
Transcript: ENSMUST00000222454
AA Change: R681*
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (58/58) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,527,141 (GRCm39) |
|
probably null |
Het |
| Abca3 |
A |
G |
17: 24,616,362 (GRCm39) |
T935A |
probably benign |
Het |
| Anxa7 |
A |
T |
14: 20,510,254 (GRCm39) |
Y399N |
probably benign |
Het |
| Arhgef10l |
G |
T |
4: 140,242,335 (GRCm39) |
T1030K |
possibly damaging |
Het |
| Ass1 |
G |
A |
2: 31,404,753 (GRCm39) |
V345I |
probably benign |
Het |
| Bms1 |
T |
C |
6: 118,380,099 (GRCm39) |
D736G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,048,484 (GRCm39) |
|
probably null |
Het |
| Cbx4 |
A |
C |
11: 118,972,398 (GRCm39) |
C326G |
probably benign |
Het |
| Ccdc188 |
A |
G |
16: 18,036,314 (GRCm39) |
E94G |
probably benign |
Het |
| Cdh5 |
A |
G |
8: 104,852,235 (GRCm39) |
T117A |
possibly damaging |
Het |
| Cdk11b |
A |
G |
4: 155,724,359 (GRCm39) |
T326A |
unknown |
Het |
| Clec5a |
C |
T |
6: 40,558,867 (GRCm39) |
C73Y |
probably damaging |
Het |
| Cntrl |
T |
C |
2: 35,052,873 (GRCm39) |
M1126T |
probably benign |
Het |
| Diaph3 |
T |
C |
14: 87,219,060 (GRCm39) |
D455G |
probably damaging |
Het |
| Eml2 |
T |
A |
7: 18,920,047 (GRCm39) |
M117K |
probably benign |
Het |
| Ern1 |
A |
T |
11: 106,325,694 (GRCm39) |
V112D |
unknown |
Het |
| Eya3 |
T |
C |
4: 132,439,272 (GRCm39) |
I466T |
possibly damaging |
Het |
| Fbxl6 |
T |
C |
15: 76,421,485 (GRCm39) |
|
probably null |
Het |
| Ffar1 |
A |
G |
7: 30,560,802 (GRCm39) |
S32P |
possibly damaging |
Het |
| Fgb |
T |
C |
3: 82,957,004 (GRCm39) |
D22G |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,828,797 (GRCm39) |
Y6865H |
possibly damaging |
Het |
| Gbx1 |
T |
C |
5: 24,710,035 (GRCm39) |
E270G |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,361,643 (GRCm39) |
L207P |
probably damaging |
Het |
| Hnrnpa1 |
T |
C |
15: 103,149,900 (GRCm39) |
S54P |
possibly damaging |
Het |
| Htr4 |
A |
G |
18: 62,545,269 (GRCm39) |
E18G |
possibly damaging |
Het |
| Ide |
A |
C |
19: 37,307,910 (GRCm39) |
L34R |
|
Het |
| Ip6k3 |
A |
T |
17: 27,376,557 (GRCm39) |
Y51* |
probably null |
Het |
| Keap1 |
A |
G |
9: 21,148,956 (GRCm39) |
L17P |
possibly damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,866,939 (GRCm39) |
V668A |
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,281,064 (GRCm39) |
T209S |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,804,610 (GRCm39) |
I1635T |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,544 (GRCm39) |
V299E |
probably damaging |
Het |
| Nadk |
A |
T |
4: 155,661,332 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
A |
T |
14: 123,536,357 (GRCm39) |
W1231R |
probably damaging |
Het |
| Odf2l |
A |
G |
3: 144,859,148 (GRCm39) |
T602A |
probably benign |
Het |
| Or13g1 |
T |
A |
7: 85,955,554 (GRCm39) |
T256S |
probably damaging |
Het |
| Or2r3 |
T |
A |
6: 42,448,635 (GRCm39) |
E159V |
probably damaging |
Het |
| Pde6c |
T |
C |
19: 38,128,507 (GRCm39) |
V190A |
possibly damaging |
Het |
| Ppp4r3a |
C |
A |
12: 101,019,821 (GRCm39) |
R378L |
probably damaging |
Het |
| Pus7l |
A |
C |
15: 94,438,707 (GRCm39) |
V46G |
probably damaging |
Het |
| Satb2 |
G |
A |
1: 56,884,880 (GRCm39) |
S466L |
probably benign |
Het |
| Serpina6 |
A |
G |
12: 103,620,395 (GRCm39) |
M118T |
probably damaging |
Het |
| Slc29a1 |
T |
C |
17: 45,897,189 (GRCm39) |
R366G |
probably damaging |
Het |
| Slc6a1 |
T |
C |
6: 114,279,515 (GRCm39) |
F98S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,824,164 (GRCm39) |
I738T |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,141,221 (GRCm39) |
V1667A |
probably damaging |
Het |
| Stxbp5 |
T |
C |
10: 9,684,248 (GRCm39) |
N574S |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,030,501 (GRCm39) |
|
probably null |
Het |
| Tbc1d10a |
T |
C |
11: 4,136,948 (GRCm39) |
S54P |
possibly damaging |
Het |
| Trim12c |
T |
C |
7: 103,990,469 (GRCm39) |
N336S |
unknown |
Het |
| Ubap2 |
T |
C |
4: 41,211,710 (GRCm39) |
S351G |
probably benign |
Het |
| Unc13c |
G |
T |
9: 73,600,553 (GRCm39) |
A1397E |
possibly damaging |
Het |
| Vmn2r57 |
A |
T |
7: 41,074,439 (GRCm39) |
C541* |
probably null |
Het |
| Vmn2r73 |
T |
C |
7: 85,524,956 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,656,160 (GRCm39) |
T790S |
|
Het |
| Zfp568 |
A |
G |
7: 29,697,295 (GRCm39) |
T72A |
possibly damaging |
Het |
| Zfp950 |
A |
T |
19: 61,108,353 (GRCm39) |
Y243* |
probably null |
Het |
| Zmym5 |
A |
G |
14: 57,036,434 (GRCm39) |
S238P |
probably damaging |
Het |
| Zswim5 |
A |
G |
4: 116,734,673 (GRCm39) |
E6G |
unknown |
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 |
|
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 |
|
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'- TCCAGAGGTGTCAGAAACCAG -3'
(R):5'- TGATTCCCTAGAGCCACTCAG -3'
Sequencing Primer
(F):5'- CCAGGTGACATGATCTTGGAC -3'
(R):5'- CACACTGAGGCTGTAGAGTTCTC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation