Incidental Mutation 'R4043:Ush1c'
ID |
313929 |
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 |
041615-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4043 (G1)
|
Quality Score |
175 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
45844774-45887927 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 45870952 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 276
(E276G)
|
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: E295G
PolyPhen 2
Score 0.427 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000009667 Gene: ENSMUSG00000030838 AA Change: E295G
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: E295G
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000077747 Gene: ENSMUSG00000030838 AA Change: E295G
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: E295G
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119676 Gene: ENSMUSG00000030838 AA Change: E295G
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 |
noncoding transcript
Transcript: ENSMUST00000148527
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154292
AA Change: E295G
PolyPhen 2
Score 0.186 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000114494 Gene: ENSMUSG00000030838 AA Change: E295G
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: E264G
PolyPhen 2
Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000134783 Gene: ENSMUSG00000030838 AA Change: E264G
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: E276G
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000135734 Gene: ENSMUSG00000030838 AA Change: E276G
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: E295G
PolyPhen 2
Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)
|
Meta Mutation Damage Score |
0.3401 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.9%
|
Validation Efficiency |
97% (64/66) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,409,360 (GRCm39) |
N44D |
probably benign |
Het |
AU018091 |
A |
G |
7: 3,208,962 (GRCm39) |
F375L |
probably damaging |
Het |
Bsph1 |
G |
T |
7: 13,192,201 (GRCm39) |
|
probably null |
Het |
Casp1 |
A |
G |
9: 5,302,444 (GRCm39) |
D122G |
probably benign |
Het |
Ccdc146 |
C |
T |
5: 21,521,941 (GRCm39) |
C361Y |
probably benign |
Het |
Cdc37l1 |
T |
C |
19: 28,968,028 (GRCm39) |
S31P |
possibly damaging |
Het |
Cdca2 |
A |
T |
14: 67,941,455 (GRCm39) |
M249K |
probably benign |
Het |
Cfap73 |
C |
T |
5: 120,768,030 (GRCm39) |
|
probably null |
Het |
Cgnl1 |
A |
G |
9: 71,612,575 (GRCm39) |
L749S |
probably damaging |
Het |
Cmtr2 |
C |
A |
8: 110,948,462 (GRCm39) |
C257* |
probably null |
Het |
Col6a4 |
A |
T |
9: 105,949,610 (GRCm39) |
L675* |
probably null |
Het |
Cpne8 |
A |
T |
15: 90,456,204 (GRCm39) |
D186E |
probably damaging |
Het |
Csmd3 |
A |
G |
15: 47,619,362 (GRCm39) |
|
probably null |
Het |
Daglb |
T |
A |
5: 143,472,906 (GRCm39) |
Y354N |
possibly damaging |
Het |
Dlgap1 |
T |
C |
17: 71,068,075 (GRCm39) |
S549P |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,843,678 (GRCm39) |
D4389G |
probably damaging |
Het |
Dst |
T |
A |
1: 34,229,765 (GRCm39) |
C2631S |
probably benign |
Het |
Gimap1 |
T |
A |
6: 48,720,176 (GRCm39) |
W263R |
probably damaging |
Het |
Gne |
A |
C |
4: 44,040,383 (GRCm39) |
C594G |
possibly damaging |
Het |
Gtf2a1 |
T |
C |
12: 91,542,441 (GRCm39) |
H47R |
probably benign |
Het |
Hdac6 |
T |
C |
X: 7,797,731 (GRCm39) |
T993A |
probably benign |
Het |
Helz2 |
T |
C |
2: 180,871,503 (GRCm39) |
D2703G |
probably benign |
Het |
Jmjd1c |
G |
A |
10: 67,055,245 (GRCm39) |
V222I |
possibly damaging |
Het |
Katnip |
A |
G |
7: 125,467,913 (GRCm39) |
I1366V |
probably benign |
Het |
Kndc1 |
A |
G |
7: 139,504,044 (GRCm39) |
E1116G |
probably benign |
Het |
Krt10 |
C |
T |
11: 99,277,819 (GRCm39) |
|
probably null |
Het |
Lrrc37a |
T |
G |
11: 103,389,479 (GRCm39) |
H1982P |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,731,528 (GRCm39) |
L68Q |
probably damaging |
Het |
Megf10 |
C |
A |
18: 57,392,870 (GRCm39) |
D422E |
probably damaging |
Het |
Mpz |
C |
T |
1: 170,987,340 (GRCm39) |
|
probably benign |
Het |
Muc5ac |
A |
T |
7: 141,361,215 (GRCm39) |
T1508S |
possibly damaging |
Het |
Myo3a |
C |
T |
2: 22,338,350 (GRCm39) |
|
probably benign |
Het |
Ndnf |
A |
T |
6: 65,680,920 (GRCm39) |
N400Y |
possibly damaging |
Het |
Or5h24 |
G |
A |
16: 58,919,124 (GRCm39) |
T77I |
unknown |
Het |
Or6p1 |
T |
C |
1: 174,258,657 (GRCm39) |
I221T |
probably damaging |
Het |
Or7g35 |
G |
T |
9: 19,496,291 (GRCm39) |
V153F |
probably benign |
Het |
Otol1 |
A |
G |
3: 69,935,112 (GRCm39) |
D368G |
probably damaging |
Het |
Pappa |
A |
G |
4: 65,232,824 (GRCm39) |
N1321S |
probably benign |
Het |
Patl1 |
T |
A |
19: 11,920,314 (GRCm39) |
L756Q |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,339,717 (GRCm39) |
M1043V |
probably benign |
Het |
Plekhg2 |
G |
A |
7: 28,064,144 (GRCm39) |
|
probably benign |
Het |
Ppp2r2d |
G |
A |
7: 138,484,145 (GRCm39) |
W265* |
probably null |
Het |
Ppp4r3c1 |
A |
G |
X: 88,975,909 (GRCm39) |
F96S |
probably damaging |
Het |
Prss40 |
G |
T |
1: 34,599,960 (GRCm39) |
S9* |
probably null |
Het |
Radil |
T |
A |
5: 142,479,988 (GRCm39) |
I471F |
probably benign |
Het |
Radx |
C |
T |
X: 138,407,752 (GRCm39) |
S364L |
probably damaging |
Het |
Rpl10l |
A |
T |
12: 66,330,977 (GRCm39) |
M52K |
probably damaging |
Het |
Scn1a |
A |
T |
2: 66,156,380 (GRCm39) |
S510T |
possibly damaging |
Het |
Sdad1 |
T |
G |
5: 92,450,553 (GRCm39) |
N194T |
probably damaging |
Het |
Sel1l3 |
A |
T |
5: 53,345,396 (GRCm39) |
Y259* |
probably null |
Het |
Slc22a26 |
T |
C |
19: 7,765,694 (GRCm39) |
|
probably null |
Het |
Snap91 |
C |
T |
9: 86,659,102 (GRCm39) |
G477D |
probably damaging |
Het |
Spata6l |
A |
T |
19: 28,923,183 (GRCm39) |
C80S |
possibly damaging |
Het |
Srr |
T |
C |
11: 74,799,947 (GRCm39) |
T202A |
probably benign |
Het |
Srrm1 |
C |
T |
4: 135,068,242 (GRCm39) |
|
probably benign |
Het |
Trp53bp2 |
T |
A |
1: 182,276,626 (GRCm39) |
L869Q |
possibly damaging |
Het |
Ttbk1 |
T |
A |
17: 46,757,688 (GRCm39) |
D982V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,624,501 (GRCm39) |
T15324A |
probably benign |
Het |
Vcan |
T |
A |
13: 89,840,662 (GRCm39) |
L1627F |
probably benign |
Het |
Vps8 |
A |
C |
16: 21,345,146 (GRCm39) |
D823A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,108 (GRCm39) |
N792K |
possibly damaging |
Het |
Zfpm2 |
A |
T |
15: 40,734,023 (GRCm39) |
D2V |
possibly damaging |
Het |
Zfyve16 |
A |
C |
13: 92,650,271 (GRCm39) |
|
probably null |
Het |
Zmym2 |
T |
A |
14: 57,195,765 (GRCm39) |
|
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 |
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 |
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'- TCTAGCACTGAGAGCACAAC -3'
(R):5'- TGTGAATGTCCTGAAGAGCAG -3'
Sequencing Primer
(F):5'- CAGGCAGAAGTCAGTTGTGTC -3'
(R):5'- TCCTGAAGAGCAGCCGCAG -3'
|
Posted On |
2015-04-30 |