Incidental Mutation 'R8182:Ush1c'
| ID |
634675 |
| 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 |
067606-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8182 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 45847775 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000009667
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009667]
[ENSMUST00000078680]
[ENSMUST00000143155]
[ENSMUST00000154292]
[ENSMUST00000176371]
[ENSMUST00000177212]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000009667
|
| SMART Domains |
Protein: ENSMUSP00000009667
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 |
|
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 null
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
|
| SMART Domains |
Protein: ENSMUSP00000119676
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 |
|
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
|
| SMART Domains |
Protein: ENSMUSP00000114494
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 |
|
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 null
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 null
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (48/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
A |
G |
8: 13,272,774 (GRCm39) |
V1328A |
probably benign |
Het |
| Akna |
T |
C |
4: 63,313,034 (GRCm39) |
Y363C |
probably damaging |
Het |
| Aph1c |
A |
G |
9: 66,740,549 (GRCm39) |
I59T |
possibly damaging |
Het |
| Bbs7 |
A |
T |
3: 36,664,372 (GRCm39) |
F100I |
probably damaging |
Het |
| Cibar1 |
T |
C |
4: 12,171,842 (GRCm39) |
H30R |
probably benign |
Het |
| Eef2k |
G |
A |
7: 120,472,626 (GRCm39) |
R113Q |
probably damaging |
Het |
| Fam221b |
G |
A |
4: 43,660,342 (GRCm39) |
R416C |
probably damaging |
Het |
| Fam98b |
C |
A |
2: 117,080,302 (GRCm39) |
D18E |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,175,223 (GRCm39) |
Y1830F |
possibly damaging |
Het |
| Fbrsl1 |
T |
A |
5: 110,526,861 (GRCm39) |
Q221L |
possibly damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,998,451 (GRCm39) |
R336G |
probably damaging |
Het |
| Fbxw15 |
A |
T |
9: 109,384,778 (GRCm39) |
C341S |
probably benign |
Het |
| Fip1l1 |
T |
C |
5: 74,748,813 (GRCm39) |
S398P |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,806,951 (GRCm39) |
D1090G |
probably damaging |
Het |
| Fyb1 |
T |
A |
15: 6,681,293 (GRCm39) |
M706K |
probably benign |
Het |
| Glg1 |
A |
T |
8: 111,897,929 (GRCm39) |
F747I |
possibly damaging |
Het |
| Gm8257 |
A |
G |
14: 44,887,623 (GRCm39) |
L254P |
probably benign |
Het |
| Hnf4g |
T |
C |
3: 3,716,679 (GRCm39) |
Y283H |
possibly damaging |
Het |
| Irx6 |
C |
A |
8: 93,403,642 (GRCm39) |
Y122* |
probably null |
Het |
| Jph4 |
C |
T |
14: 55,347,213 (GRCm39) |
G445R |
possibly damaging |
Het |
| Kif16b |
G |
T |
2: 142,554,819 (GRCm39) |
R660S |
possibly damaging |
Het |
| Kif21a |
C |
T |
15: 90,819,964 (GRCm39) |
G1556D |
possibly damaging |
Het |
| Kif3a |
T |
A |
11: 53,485,133 (GRCm39) |
Y531* |
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,319,673 (GRCm39) |
D1950G |
probably damaging |
Het |
| Med23 |
T |
G |
10: 24,788,705 (GRCm39) |
S1371A |
probably benign |
Het |
| Mef2a |
T |
A |
7: 66,917,875 (GRCm39) |
E112D |
probably benign |
Het |
| Mxra8 |
C |
G |
4: 155,925,589 (GRCm39) |
Y99* |
probably null |
Het |
| Nbeal1 |
A |
G |
1: 60,239,292 (GRCm39) |
T112A |
probably benign |
Het |
| Or8b49 |
G |
A |
9: 38,505,840 (GRCm39) |
V108I |
probably benign |
Het |
| Pclo |
G |
A |
5: 14,905,634 (GRCm39) |
E4955K |
unknown |
Het |
| Poc1b |
T |
C |
10: 98,991,005 (GRCm39) |
|
probably null |
Het |
| Ptbp2 |
A |
G |
3: 119,534,078 (GRCm39) |
Y264H |
probably damaging |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,070 (GRCm39) |
V385A |
probably benign |
Het |
| Rlf |
G |
A |
4: 121,008,102 (GRCm39) |
P403S |
possibly damaging |
Het |
| Rnase9 |
T |
C |
14: 51,276,537 (GRCm39) |
N147S |
probably benign |
Het |
| Serpinb9f |
A |
G |
13: 33,518,603 (GRCm39) |
I368V |
probably benign |
Het |
| Slc1a1 |
A |
T |
19: 28,878,848 (GRCm39) |
T196S |
probably benign |
Het |
| Smarca2 |
A |
G |
19: 26,608,120 (GRCm39) |
S60G |
probably benign |
Het |
| Tbc1d4 |
A |
T |
14: 101,744,990 (GRCm39) |
V212E |
probably damaging |
Het |
| Thap12 |
T |
A |
7: 98,365,584 (GRCm39) |
I584N |
probably damaging |
Het |
| Ube3b |
T |
A |
5: 114,530,199 (GRCm39) |
N195K |
possibly damaging |
Het |
| Upk3b |
T |
C |
5: 136,067,982 (GRCm39) |
C58R |
probably damaging |
Het |
| Vmn1r60 |
T |
C |
7: 5,547,876 (GRCm39) |
T75A |
|
Het |
| Vmn2r77 |
T |
A |
7: 86,460,801 (GRCm39) |
L709H |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,901,850 (GRCm39) |
S569P |
probably damaging |
Het |
| Zfp418 |
A |
T |
7: 7,184,658 (GRCm39) |
N207I |
probably benign |
Het |
| Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
Het |
| Zfp808 |
G |
A |
13: 62,319,521 (GRCm39) |
C250Y |
probably 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 |
|
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 |
|
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'- TGATCTGCTCACTCTCTAGCAG -3'
(R):5'- CAGTCAGACAGTCCTGAGTCAG -3'
Sequencing Primer
(F):5'- AGCAGCCCCCAATACTCTCTTG -3'
(R):5'- TGAGTCAGGCACAGGTCAC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation