Incidental Mutation 'R9129:Ush1c'
| ID |
693475 |
| 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 # |
R9129 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45854629 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 708
(S708P)
|
| 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: S708P
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: S708P
| 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 benign
Transcript: ENSMUST00000143155
AA Change: S708P
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: S708P
| 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: S708P
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: S708P
| 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
AA Change: S708P
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
99% (68/69) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,523,223 (GRCm39) |
S1238P |
probably damaging |
Het |
| Akap9 |
T |
C |
5: 4,119,089 (GRCm39) |
L3532S |
probably benign |
Het |
| Ankfn1 |
A |
G |
11: 89,312,042 (GRCm39) |
L701P |
|
Het |
| Aph1b |
A |
C |
9: 66,686,595 (GRCm39) |
I225S |
probably benign |
Het |
| Asic4 |
A |
T |
1: 75,446,469 (GRCm39) |
H337L |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,368,412 (GRCm39) |
E187G |
probably damaging |
Het |
| Atp9a |
A |
G |
2: 168,517,205 (GRCm39) |
M376T |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,976,220 (GRCm39) |
T1698K |
probably damaging |
Het |
| Cacna2d4 |
T |
C |
6: 119,313,415 (GRCm39) |
|
probably null |
Het |
| Catsper1 |
C |
A |
19: 5,390,402 (GRCm39) |
|
probably benign |
Het |
| Cd248 |
T |
C |
19: 5,120,140 (GRCm39) |
S663P |
probably benign |
Het |
| Crispld2 |
A |
T |
8: 120,737,488 (GRCm39) |
M80L |
possibly damaging |
Het |
| Cwc22 |
G |
A |
2: 77,726,659 (GRCm39) |
Q807* |
probably null |
Het |
| Cyp2a4 |
T |
C |
7: 26,014,136 (GRCm39) |
Y438H |
probably benign |
Het |
| Cyp2b23 |
A |
T |
7: 26,381,189 (GRCm39) |
|
probably benign |
Het |
| Dsp |
T |
A |
13: 38,377,126 (GRCm39) |
V1637D |
probably benign |
Het |
| Elovl1 |
A |
T |
4: 118,289,156 (GRCm39) |
Y227F |
possibly damaging |
Het |
| Ern1 |
T |
C |
11: 106,300,946 (GRCm39) |
K483E |
probably benign |
Het |
| Fzd2 |
T |
C |
11: 102,496,465 (GRCm39) |
F303S |
probably benign |
Het |
| Gm9944 |
A |
T |
4: 144,179,763 (GRCm39) |
V42D |
unknown |
Het |
| Grik5 |
G |
A |
7: 24,767,429 (GRCm39) |
|
probably benign |
Het |
| Hdac4 |
T |
C |
1: 91,909,929 (GRCm39) |
D445G |
probably benign |
Het |
| Hinfp |
C |
T |
9: 44,209,062 (GRCm39) |
R352H |
probably damaging |
Het |
| Hrnr |
A |
G |
3: 93,231,277 (GRCm39) |
H505R |
unknown |
Het |
| Hsfy2 |
C |
T |
1: 56,675,752 (GRCm39) |
D262N |
probably benign |
Het |
| Hspa4 |
G |
A |
11: 53,174,463 (GRCm39) |
Q186* |
probably null |
Het |
| Ipo8 |
T |
C |
6: 148,700,125 (GRCm39) |
H584R |
probably benign |
Het |
| Krtap8-1 |
T |
A |
16: 89,284,636 (GRCm39) |
R54* |
probably null |
Het |
| Lama4 |
T |
A |
10: 38,932,887 (GRCm39) |
Y588N |
probably benign |
Het |
| Lekr1 |
T |
A |
3: 65,591,426 (GRCm39) |
Y54* |
probably null |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Lypd10 |
A |
G |
7: 24,413,170 (GRCm39) |
D163G |
probably benign |
Het |
| Lzts3 |
A |
T |
2: 130,476,865 (GRCm39) |
Y528N |
possibly damaging |
Het |
| Mdn1 |
T |
A |
4: 32,676,812 (GRCm39) |
V628E |
probably benign |
Het |
| Mgat5b |
A |
C |
11: 116,859,348 (GRCm39) |
|
probably benign |
Het |
| Mical2 |
A |
C |
7: 111,870,589 (GRCm39) |
K26T |
possibly damaging |
Het |
| Mllt10 |
C |
T |
2: 18,167,404 (GRCm39) |
S443L |
probably benign |
Het |
| Mtf1 |
G |
A |
4: 124,698,913 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,154,068 (GRCm39) |
F669L |
probably damaging |
Het |
| Nlrp9c |
A |
T |
7: 26,077,428 (GRCm39) |
|
probably null |
Het |
| Nog |
G |
C |
11: 89,192,602 (GRCm39) |
S82W |
probably damaging |
Het |
| Ntrk2 |
A |
G |
13: 59,276,084 (GRCm39) |
T795A |
probably benign |
Het |
| Or4a78 |
A |
G |
2: 89,497,930 (GRCm39) |
F100S |
probably damaging |
Het |
| Or56a3b |
G |
A |
7: 104,771,223 (GRCm39) |
M186I |
probably benign |
Het |
| Or5m3 |
A |
T |
2: 85,838,356 (GRCm39) |
M79L |
|
Het |
| Or5w17 |
A |
T |
2: 87,584,048 (GRCm39) |
F96L |
probably benign |
Het |
| Pira12 |
C |
A |
7: 3,898,500 (GRCm39) |
|
probably null |
Het |
| Prl6a1 |
A |
T |
13: 27,502,064 (GRCm39) |
I144L |
|
Het |
| Rab11fip5 |
A |
G |
6: 85,317,892 (GRCm39) |
V999A |
probably benign |
Het |
| Serpinb6b |
TTGTTTCTGT |
TTGT |
13: 33,162,139 (GRCm39) |
|
probably benign |
Het |
| Shisa6 |
A |
G |
11: 66,110,853 (GRCm39) |
M296T |
probably benign |
Het |
| Slc18a1 |
T |
A |
8: 69,491,533 (GRCm39) |
T494S |
probably benign |
Het |
| Slc22a29 |
T |
G |
19: 8,146,669 (GRCm39) |
I378L |
probably benign |
Het |
| Slc23a2 |
C |
T |
2: 131,920,332 (GRCm39) |
|
probably null |
Het |
| Slc2a7 |
G |
T |
4: 150,243,001 (GRCm39) |
R274L |
probably benign |
Het |
| Spta1 |
A |
G |
1: 174,058,911 (GRCm39) |
T1949A |
possibly damaging |
Het |
| Szt2 |
A |
G |
4: 118,221,866 (GRCm39) |
V3339A |
unknown |
Het |
| Tcp10a |
G |
A |
17: 7,593,935 (GRCm39) |
D87N |
probably benign |
Het |
| Tgm5 |
T |
G |
2: 120,877,270 (GRCm39) |
Q638P |
probably damaging |
Het |
| Tmem145 |
A |
G |
7: 25,014,265 (GRCm39) |
T460A |
possibly damaging |
Het |
| Ttc3 |
A |
T |
16: 94,185,208 (GRCm39) |
M50L |
probably benign |
Het |
| Vmn1r217 |
T |
A |
13: 23,298,876 (GRCm39) |
T9S |
probably benign |
Het |
| Vmn1r26 |
T |
C |
6: 57,985,373 (GRCm39) |
Y272C |
|
Het |
| Vmn1r75 |
G |
T |
7: 11,614,513 (GRCm39) |
A82S |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,678,918 (GRCm39) |
R769* |
probably null |
Het |
| Vps13b |
C |
A |
15: 35,448,793 (GRCm39) |
A589E |
probably damaging |
Het |
| Vps13d |
G |
A |
4: 144,898,249 (GRCm39) |
R304W |
|
Het |
| Vps41 |
A |
G |
13: 19,011,775 (GRCm39) |
E294G |
probably benign |
Het |
| Xpo7 |
T |
C |
14: 70,909,113 (GRCm39) |
T802A |
probably benign |
Het |
| Ylpm1 |
T |
A |
12: 85,104,052 (GRCm39) |
D2022E |
|
Het |
| Zfp433 |
T |
A |
10: 81,555,724 (GRCm39) |
C75* |
probably null |
Het |
| Zyg11a |
A |
T |
4: 108,039,009 (GRCm39) |
S737T |
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 |
|
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 |
|
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'- TGCAAATCATGTGGATTCATCCC -3'
(R):5'- GTATCAGGCTGGCTCATGTG -3'
Sequencing Primer
(F):5'- TCCCTTGACCAATAAGAAGGTG -3'
(R):5'- GTAAACATACAATGGCTATCCCTGG -3'
|
| Posted On |
2022-01-20 |
Incidental Mutation