Incidental Mutation 'R1406:Ush1c'
| ID |
188736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ush1c
|
| Ensembl Gene |
ENSMUSG00000030838 |
| Gene Name |
USH1 protein network component harmonin |
| Synonyms |
harmonin, 2010016F01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1406 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
46195350-46238503 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to C
at 46225541 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152126
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000009667]
[ENSMUST00000078680]
[ENSMUST00000143155]
[ENSMUST00000154292]
[ENSMUST00000154292]
[ENSMUST00000176371]
[ENSMUST00000176371]
[ENSMUST00000177212]
[ENSMUST00000177212]
[ENSMUST00000222454]
|
| 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: 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: 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 |
|
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000222454
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.7%
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
T |
C |
14: 78,512,749 |
T733A |
probably benign |
Het |
| Antxrl |
A |
G |
14: 34,073,042 |
N476D |
possibly damaging |
Het |
| Armc8 |
G |
T |
9: 99,523,248 |
P268Q |
probably benign |
Het |
| Asb8 |
C |
A |
15: 98,136,423 |
G84C |
probably damaging |
Het |
| BC027072 |
T |
C |
17: 71,749,161 |
N1174D |
probably benign |
Het |
| BC035044 |
A |
T |
6: 128,885,084 |
|
probably null |
Het |
| Caprin1 |
A |
G |
2: 103,775,987 |
F303L |
probably benign |
Het |
| Cdh7 |
G |
A |
1: 110,061,132 |
V255I |
probably benign |
Het |
| Ctdspl2 |
G |
A |
2: 122,006,868 |
R371Q |
probably damaging |
Het |
| Dctn4 |
T |
A |
18: 60,556,330 |
D431E |
probably benign |
Het |
| Dhx40 |
T |
C |
11: 86,797,745 |
E284G |
probably benign |
Het |
| Dhx9 |
A |
G |
1: 153,464,938 |
V652A |
probably damaging |
Het |
| Fnip2 |
G |
T |
3: 79,508,091 |
N213K |
possibly damaging |
Het |
| Itch |
A |
G |
2: 155,206,354 |
E546G |
possibly damaging |
Het |
| Map3k20 |
A |
T |
2: 72,389,494 |
I257F |
probably damaging |
Het |
| Mdc1 |
C |
T |
17: 35,853,532 |
T1324I |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,771,486 |
I474T |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,883,634 |
V156A |
possibly damaging |
Het |
| Nbea |
A |
G |
3: 56,037,281 |
V554A |
probably benign |
Het |
| Olfr1308 |
A |
G |
2: 111,960,581 |
V164A |
probably benign |
Het |
| Olfr157 |
C |
T |
4: 43,835,582 |
V303M |
possibly damaging |
Het |
| Olfr419 |
T |
A |
1: 174,250,861 |
E22V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,321,651 |
Y676H |
probably benign |
Het |
| Plpp2 |
G |
A |
10: 79,530,777 |
|
probably benign |
Het |
| Rab32 |
A |
G |
10: 10,550,893 |
V103A |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,351,921 |
E262G |
possibly damaging |
Het |
| Rtn4 |
A |
G |
11: 29,708,236 |
T797A |
probably benign |
Het |
| Sall1 |
A |
T |
8: 89,032,444 |
I344K |
probably benign |
Het |
| Scnn1b |
T |
C |
7: 121,902,544 |
|
probably null |
Het |
| Sik3 |
G |
T |
9: 46,123,345 |
|
probably benign |
Het |
| Slc7a2 |
G |
T |
8: 40,905,585 |
G322W |
probably damaging |
Het |
| Snx29 |
A |
G |
16: 11,399,793 |
M153V |
probably benign |
Het |
| Stk25 |
A |
G |
1: 93,625,153 |
|
probably benign |
Het |
| Stk4 |
C |
T |
2: 164,100,528 |
T360M |
probably benign |
Het |
| Vmn2r8 |
C |
T |
5: 108,802,368 |
M204I |
probably benign |
Het |
| Zfp839 |
C |
T |
12: 110,866,310 |
T554M |
probably damaging |
Het |
|
| Other mutations in Ush1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00336:Ush1c
|
APN |
7 |
46196770 |
missense |
probably benign |
0.00 |
|
IGL01074:Ush1c
|
APN |
7 |
46225250 |
splice site |
probably benign |
|
|
IGL01099:Ush1c
|
APN |
7 |
46205262 |
missense |
probably damaging |
0.99 |
|
IGL01107:Ush1c
|
APN |
7 |
46209901 |
missense |
probably damaging |
1.00 |
|
IGL01446:Ush1c
|
APN |
7 |
46208956 |
missense |
possibly damaging |
0.86 |
|
IGL02267:Ush1c
|
APN |
7 |
46209298 |
missense |
possibly damaging |
0.92 |
|
IGL02307:Ush1c
|
APN |
7 |
46197188 |
splice site |
probably benign |
|
|
IGL02448:Ush1c
|
APN |
7 |
46209137 |
missense |
possibly damaging |
0.51 |
|
IGL02485:Ush1c
|
APN |
7 |
46229250 |
missense |
probably damaging |
0.99 |
|
IGL02896:Ush1c
|
APN |
7 |
46198415 |
missense |
probably benign |
0.00 |
|
IGL03031:Ush1c
|
APN |
7 |
46224937 |
splice site |
probably benign |
|
|
R0085:Ush1c
|
UTSW |
7 |
46225555 |
missense |
probably benign |
0.09 |
|
R0328:Ush1c
|
UTSW |
7 |
46225448 |
splice site |
probably benign |
|
|
R0574:Ush1c
|
UTSW |
7 |
46196804 |
missense |
possibly damaging |
0.68 |
|
R0600:Ush1c
|
UTSW |
7 |
46224908 |
missense |
probably benign |
0.00 |
|
R1187:Ush1c
|
UTSW |
7 |
46208914 |
missense |
probably benign |
0.01 |
|
R1406:Ush1c
|
UTSW |
7 |
46225541 |
critical splice donor site |
probably null |
|
|
R1716:Ush1c
|
UTSW |
7 |
46195728 |
missense |
probably benign |
0.18 |
|
R1727:Ush1c
|
UTSW |
7 |
46209231 |
missense |
probably damaging |
1.00 |
|
R1822:Ush1c
|
UTSW |
7 |
46209901 |
missense |
probably damaging |
1.00 |
|
R1864:Ush1c
|
UTSW |
7 |
46219392 |
nonsense |
probably null |
|
|
R2000:Ush1c
|
UTSW |
7 |
46221433 |
missense |
probably damaging |
0.99 |
|
R2063:Ush1c
|
UTSW |
7 |
46229481 |
missense |
probably damaging |
1.00 |
|
R2068:Ush1c
|
UTSW |
7 |
46229481 |
missense |
probably damaging |
1.00 |
|
R2944:Ush1c
|
UTSW |
7 |
46200982 |
missense |
probably damaging |
1.00 |
|
R4042:Ush1c
|
UTSW |
7 |
46221528 |
missense |
probably damaging |
0.97 |
|
R4043:Ush1c
|
UTSW |
7 |
46221528 |
missense |
probably damaging |
0.97 |
|
R4108:Ush1c
|
UTSW |
7 |
46198445 |
missense |
probably damaging |
1.00 |
|
R4823:Ush1c
|
UTSW |
7 |
46195733 |
missense |
probably benign |
0.00 |
|
R4862:Ush1c
|
UTSW |
7 |
46229240 |
missense |
probably damaging |
1.00 |
|
R5534:Ush1c
|
UTSW |
7 |
46221423 |
missense |
probably damaging |
1.00 |
|
R5922:Ush1c
|
UTSW |
7 |
46204128 |
critical splice donor site |
probably null |
|
|
R6249:Ush1c
|
UTSW |
7 |
46214959 |
missense |
probably damaging |
1.00 |
|
R6475:Ush1c
|
UTSW |
7 |
46229219 |
missense |
probably damaging |
0.99 |
|
R6485:Ush1c
|
UTSW |
7 |
46209110 |
missense |
probably benign |
|
|
R6667:Ush1c
|
UTSW |
7 |
46225624 |
missense |
probably damaging |
1.00 |
|
R7177:Ush1c
|
UTSW |
7 |
46229219 |
missense |
probably damaging |
0.99 |
|
R7419:Ush1c
|
UTSW |
7 |
46229255 |
missense |
probably damaging |
1.00 |
|
R7424:Ush1c
|
UTSW |
7 |
46225555 |
missense |
probably benign |
0.09 |
|
R7811:Ush1c
|
UTSW |
7 |
46205286 |
nonsense |
probably null |
|
|
R7862:Ush1c
|
UTSW |
7 |
46221424 |
missense |
probably damaging |
0.99 |
|
R8182:Ush1c
|
UTSW |
7 |
46198351 |
critical splice donor site |
probably null |
|
|
R8340:Ush1c
|
UTSW |
7 |
46211206 |
missense |
probably benign |
0.41 |
|
R8470:Ush1c
|
UTSW |
7 |
46209250 |
missense |
probably damaging |
1.00 |
|
R8478:Ush1c
|
UTSW |
7 |
46221433 |
missense |
probably damaging |
0.99 |
|
R9025:Ush1c
|
UTSW |
7 |
46197190 |
splice site |
probably benign |
|
|
R9076:Ush1c
|
UTSW |
7 |
46201056 |
missense |
probably damaging |
1.00 |
|
R9129:Ush1c
|
UTSW |
7 |
46205205 |
missense |
probably benign |
0.23 |
|
R9398:Ush1c
|
UTSW |
7 |
46220510 |
missense |
probably benign |
0.08 |
|
R9418:Ush1c
|
UTSW |
7 |
46222868 |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGGAGACTCACAGATAAGCCTGC -3'
(R):5'- AAAAGTGTTGCCTGCCGCTGTC -3'
Sequencing Primer
(F):5'- GCTTACCTCTTCACAGGGATCAG -3'
(R):5'- AAGCTTTTGCTTGATGACAGCC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation