Incidental Mutation 'R9398:Ush1c'
| ID |
710938 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9398 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45869934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 342
(R342G)
|
| 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 benign
Transcript: ENSMUST00000009667
AA Change: R342G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: R342G
| 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: R342G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: R342G
| 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: R342G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: R342G
| 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: R342G
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: R342G
| 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: R311G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: R311G
| 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
AA Change: R323G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: R323G
| 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: R342G
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvrl1 |
A |
T |
15: 101,034,924 (GRCm39) |
K228* |
probably null |
Het |
| Adrb2 |
T |
C |
18: 62,312,276 (GRCm39) |
D183G |
probably benign |
Het |
| Ap1m2 |
A |
G |
9: 21,216,935 (GRCm39) |
Y134H |
probably damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,073 (GRCm39) |
T217A |
probably benign |
Het |
| Cdnf |
C |
T |
2: 3,522,075 (GRCm39) |
T89I |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 65,051,648 (GRCm39) |
R3W |
probably benign |
Het |
| Col6a6 |
A |
G |
9: 105,651,825 (GRCm39) |
I1062T |
probably benign |
Het |
| Ctss |
T |
C |
3: 95,454,258 (GRCm39) |
F270S |
possibly damaging |
Het |
| Ddhd1 |
C |
T |
14: 45,895,117 (GRCm39) |
G118R |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,436,912 (GRCm39) |
K69E |
probably benign |
Het |
| Dgkb |
G |
A |
12: 38,189,657 (GRCm39) |
G328D |
probably damaging |
Het |
| Dock1 |
C |
T |
7: 134,774,228 (GRCm39) |
T1852M |
probably damaging |
Het |
| Gm19410 |
T |
C |
8: 36,272,356 (GRCm39) |
Y1346H |
probably benign |
Het |
| Gprin1 |
G |
T |
13: 54,887,383 (GRCm39) |
T297N |
probably damaging |
Het |
| Gramd1c |
A |
G |
16: 43,833,381 (GRCm39) |
F187S |
probably damaging |
Het |
| Gse1 |
A |
G |
8: 121,303,074 (GRCm39) |
N1072D |
unknown |
Het |
| Gtf3c6 |
G |
A |
10: 40,133,520 (GRCm39) |
|
probably benign |
Het |
| Hipk3 |
T |
A |
2: 104,263,562 (GRCm39) |
T897S |
probably benign |
Het |
| Igsf21 |
T |
A |
4: 139,973,762 (GRCm39) |
|
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,605 (GRCm39) |
I757V |
probably damaging |
Het |
| Lamb2 |
C |
T |
9: 108,364,366 (GRCm39) |
R1102W |
possibly damaging |
Het |
| Lzts2 |
T |
G |
19: 45,013,208 (GRCm39) |
C374W |
unknown |
Het |
| Mapk10 |
A |
T |
5: 103,061,152 (GRCm39) |
S462T |
probably damaging |
Het |
| Mtcl1 |
A |
T |
17: 66,755,462 (GRCm39) |
D293E |
possibly damaging |
Het |
| Nf1 |
T |
G |
11: 79,438,018 (GRCm39) |
H109Q |
probably damaging |
Het |
| Nlrp9b |
T |
C |
7: 19,783,435 (GRCm39) |
L926P |
probably damaging |
Het |
| Notch2 |
G |
A |
3: 98,009,668 (GRCm39) |
D532N |
probably damaging |
Het |
| Olfm4 |
A |
T |
14: 80,249,249 (GRCm39) |
Y122F |
probably benign |
Het |
| Or52e19b |
T |
A |
7: 103,032,487 (GRCm39) |
T241S |
probably damaging |
Het |
| Or52r1 |
A |
G |
7: 102,537,000 (GRCm39) |
M120T |
probably damaging |
Het |
| Or56a4 |
A |
T |
7: 104,806,006 (GRCm39) |
Y294* |
probably null |
Het |
| Or5g24-ps1 |
T |
C |
2: 85,464,367 (GRCm39) |
V198A |
probably benign |
Het |
| Or5p76 |
T |
C |
7: 108,123,035 (GRCm39) |
T41A |
probably damaging |
Het |
| Or5t18 |
A |
G |
2: 86,637,160 (GRCm39) |
L61P |
possibly damaging |
Het |
| P2rx2 |
A |
T |
5: 110,488,138 (GRCm39) |
M472K |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,354,941 (GRCm39) |
K487E |
probably benign |
Het |
| Plxnb2 |
A |
G |
15: 89,045,122 (GRCm39) |
V1108A |
probably benign |
Het |
| Polq |
A |
G |
16: 36,881,394 (GRCm39) |
N1186S |
probably benign |
Het |
| Por |
T |
A |
5: 135,754,597 (GRCm39) |
W6R |
unknown |
Het |
| Prex2 |
G |
A |
1: 11,207,028 (GRCm39) |
V529I |
probably benign |
Het |
| Rgs6 |
T |
G |
12: 82,698,615 (GRCm39) |
S5A |
probably benign |
Het |
| Rp9 |
G |
T |
9: 22,360,082 (GRCm39) |
S171* |
probably null |
Het |
| Sec11c |
T |
A |
18: 65,942,568 (GRCm39) |
I47N |
possibly damaging |
Het |
| Sh2b1 |
GCCACGGGGACCAGCTC |
GCCACGGGGACCAGCTCATCCACGGGGACCAGCTC |
7: 126,066,756 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Sh2b1 |
GACCAGCTCAGCCACGGG |
GACCAGCTCAGCCACGGGTACCAGCTCAGCCACGGG |
7: 126,066,746 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
A |
G |
6: 141,940,511 (GRCm39) |
S137P |
possibly damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,213,651 (GRCm39) |
M692T |
possibly damaging |
Het |
| Sult1d1 |
T |
A |
5: 87,713,954 (GRCm39) |
Q30L |
probably benign |
Het |
| Tcea2 |
A |
G |
2: 181,322,243 (GRCm39) |
D15G |
probably damaging |
Het |
| Tep1 |
T |
C |
14: 51,066,429 (GRCm39) |
S2344G |
possibly damaging |
Het |
| Ttc6 |
T |
A |
12: 57,784,404 (GRCm39) |
Y1824* |
probably null |
Het |
| Ubqln5 |
T |
C |
7: 103,777,985 (GRCm39) |
T280A |
probably benign |
Het |
| Vmn1r185 |
T |
A |
7: 26,311,056 (GRCm39) |
I150F |
probably benign |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 12,836,261 (GRCm39) |
M205T |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,896,956 (GRCm39) |
Y321* |
probably null |
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 |
|
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 |
|
R9418:Ush1c
|
UTSW |
7 |
45,872,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGGATTTGAGCCAATGAAGTC -3'
(R):5'- AGCGCCAGATGAAATTACCC -3'
Sequencing Primer
(F):5'- CCAATGAAGTCAATGCAGTTTGTGG -3'
(R):5'- TGAAATTACCCAGGACCACGGG -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation