Incidental Mutation 'R7177:Ush1c'
| ID |
558687 |
| 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 |
045268-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7177 (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 45878643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 124
(D124G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135734
(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: D124G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: D124G
| 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: D124G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: D124G
| 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: D124G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: D124G
| 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: D124G
PolyPhen 2
Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: D124G
| 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: D93G
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: D93G
| 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: D124G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: D124G
| 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: D124G
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| Meta Mutation Damage Score |
0.2704 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
T |
C |
9: 53,325,685 (GRCm39) |
L74S |
probably damaging |
Het |
| 5730409E04Rik |
A |
G |
4: 126,505,525 (GRCm39) |
S18G |
probably benign |
Het |
| Adam29 |
A |
G |
8: 56,325,659 (GRCm39) |
I265T |
probably benign |
Het |
| Aff4 |
C |
T |
11: 53,297,466 (GRCm39) |
S896L |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,318,822 (GRCm39) |
I571T |
probably damaging |
Het |
| Bdp1 |
C |
A |
13: 100,186,478 (GRCm39) |
R1658I |
probably damaging |
Het |
| Carm1 |
C |
T |
9: 21,458,323 (GRCm39) |
T7M |
unknown |
Het |
| Ccdc183 |
A |
G |
2: 25,506,296 (GRCm39) |
V100A |
probably damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Ceacam2 |
T |
G |
7: 25,220,341 (GRCm39) |
D239A |
probably benign |
Het |
| Cfap96 |
T |
A |
8: 46,423,444 (GRCm39) |
E89D |
possibly damaging |
Het |
| Cimap1c |
T |
A |
9: 56,757,262 (GRCm39) |
M139L |
possibly damaging |
Het |
| Cmya5 |
T |
C |
13: 93,231,836 (GRCm39) |
D1084G |
probably benign |
Het |
| Cog5 |
T |
A |
12: 31,810,888 (GRCm39) |
I194K |
probably damaging |
Het |
| Col20a1 |
C |
T |
2: 180,636,007 (GRCm39) |
Q211* |
probably null |
Het |
| Col9a1 |
T |
A |
1: 24,234,498 (GRCm39) |
L13Q |
unknown |
Het |
| Cracr2a |
A |
T |
6: 127,585,669 (GRCm39) |
M156L |
probably benign |
Het |
| Cts8 |
C |
T |
13: 61,399,505 (GRCm39) |
M151I |
possibly damaging |
Het |
| Cyp2ab1 |
A |
T |
16: 20,135,469 (GRCm39) |
L11Q |
probably null |
Het |
| Dhrs13 |
T |
A |
11: 77,925,208 (GRCm39) |
C160S |
probably benign |
Het |
| Enthd1 |
T |
A |
15: 80,358,415 (GRCm39) |
E368D |
probably damaging |
Het |
| Fbh1 |
A |
G |
2: 11,760,522 (GRCm39) |
I676T |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,421 (GRCm39) |
R176G |
probably benign |
Het |
| Gatd1 |
A |
G |
7: 140,990,947 (GRCm39) |
F67L |
possibly damaging |
Het |
| Gm4353 |
G |
A |
7: 115,683,727 (GRCm39) |
P23S |
probably damaging |
Het |
| Gm6882 |
T |
A |
7: 21,161,677 (GRCm39) |
I64F |
possibly damaging |
Het |
| Grwd1 |
A |
T |
7: 45,480,204 (GRCm39) |
M1K |
probably null |
Het |
| Hook2 |
T |
A |
8: 85,718,046 (GRCm39) |
S58T |
probably benign |
Het |
| Iqch |
T |
G |
9: 63,329,117 (GRCm39) |
*1072C |
probably null |
Het |
| Kmt2d |
G |
A |
15: 98,748,267 (GRCm39) |
T3019I |
unknown |
Het |
| Lmx1a |
T |
C |
1: 167,674,247 (GRCm39) |
S356P |
probably benign |
Het |
| Lrig3 |
A |
G |
10: 125,842,712 (GRCm39) |
M546V |
probably benign |
Het |
| Lrrc1 |
C |
A |
9: 77,379,504 (GRCm39) |
E96* |
probably null |
Het |
| Lrtm2 |
C |
A |
6: 119,294,113 (GRCm39) |
M339I |
probably damaging |
Het |
| Map10 |
T |
C |
8: 126,398,584 (GRCm39) |
V659A |
probably benign |
Het |
| Map7d1 |
A |
G |
4: 126,130,778 (GRCm39) |
C384R |
probably damaging |
Het |
| Mcur1 |
T |
C |
13: 43,698,012 (GRCm39) |
D296G |
probably damaging |
Het |
| Mettl24 |
A |
T |
10: 40,686,508 (GRCm39) |
H295L |
probably damaging |
Het |
| Mgat4f |
T |
C |
1: 134,318,163 (GRCm39) |
S312P |
probably benign |
Het |
| Mpl |
A |
G |
4: 118,305,741 (GRCm39) |
|
probably null |
Het |
| Mrps5 |
T |
C |
2: 127,437,617 (GRCm39) |
V148A |
probably benign |
Het |
| N4bp2 |
T |
C |
5: 65,964,891 (GRCm39) |
V980A |
probably damaging |
Het |
| Ncaph |
A |
T |
2: 126,958,506 (GRCm39) |
D504E |
probably damaging |
Het |
| Nxph1 |
A |
G |
6: 9,247,497 (GRCm39) |
N156S |
probably damaging |
Het |
| Or2t26 |
T |
A |
11: 49,040,012 (GRCm39) |
C309* |
probably null |
Het |
| Or4f14b |
T |
A |
2: 111,775,501 (GRCm39) |
Q100L |
probably damaging |
Het |
| Pafah1b3 |
T |
A |
7: 24,994,657 (GRCm39) |
I186L |
probably benign |
Het |
| Papola |
C |
A |
12: 105,775,790 (GRCm39) |
N235K |
possibly damaging |
Het |
| Pcnx3 |
A |
T |
19: 5,737,527 (GRCm39) |
M98K |
probably benign |
Het |
| Pip4p1 |
A |
C |
14: 51,167,634 (GRCm39) |
M104R |
possibly damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,330,800 (GRCm39) |
N125S |
probably damaging |
Het |
| Pls1 |
T |
A |
9: 95,655,612 (GRCm39) |
H380L |
probably benign |
Het |
| Plxna1 |
T |
C |
6: 89,300,311 (GRCm39) |
T1591A |
possibly damaging |
Het |
| Pparg |
T |
G |
6: 115,418,581 (GRCm39) |
S147A |
probably benign |
Het |
| Prdm10 |
T |
C |
9: 31,279,003 (GRCm39) |
S1025P |
probably benign |
Het |
| Prkcd |
T |
A |
14: 30,321,664 (GRCm39) |
H510L |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,572,480 (GRCm39) |
E499D |
possibly damaging |
Het |
| Rad51ap1 |
A |
G |
6: 126,901,983 (GRCm39) |
S256P |
probably benign |
Het |
| Rad54b |
A |
G |
4: 11,599,755 (GRCm39) |
T320A |
probably damaging |
Het |
| Rnf207 |
A |
G |
4: 152,396,634 (GRCm39) |
I459T |
probably benign |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Ryr3 |
A |
T |
2: 112,731,188 (GRCm39) |
D727E |
probably damaging |
Het |
| Sdk2 |
C |
T |
11: 113,720,795 (GRCm39) |
R1378H |
possibly damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,397,680 (GRCm39) |
S11P |
probably benign |
Het |
| Sox4 |
A |
G |
13: 29,137,000 (GRCm39) |
V2A |
probably damaging |
Het |
| Srf |
A |
G |
17: 46,866,318 (GRCm39) |
F146S |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,747 (GRCm39) |
V797A |
unknown |
Het |
| Stk32c |
T |
C |
7: 138,684,218 (GRCm39) |
D463G |
possibly damaging |
Het |
| Syne2 |
C |
A |
12: 76,018,654 (GRCm39) |
Y3384* |
probably null |
Het |
| Tektl1 |
T |
C |
10: 78,588,324 (GRCm39) |
D162G |
probably damaging |
Het |
| Traip |
T |
A |
9: 107,838,184 (GRCm39) |
M139K |
possibly damaging |
Het |
| Trappc2l |
T |
A |
8: 123,341,051 (GRCm39) |
F100Y |
probably damaging |
Het |
| Uty |
A |
G |
Y: 1,099,691 (GRCm39) |
V1168A |
probably benign |
Het |
| Vmn2r25 |
T |
C |
6: 123,816,882 (GRCm39) |
D233G |
possibly damaging |
Het |
| Zdbf2 |
C |
T |
1: 63,334,120 (GRCm39) |
R31C |
possibly damaging |
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 |
|
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'- CCTAGTATGTGTAAGGACAGGG -3'
(R):5'- AGGGTACACAGAGCTAGCTC -3'
Sequencing Primer
(F):5'- TGTGTAAGGACAGGGACACACAC -3'
(R):5'- GAGCTAGCTCTCAGGCTTG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation