Incidental Mutation 'R3546:Ush1g'
| ID |
334562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ush1g
|
| Ensembl Gene |
ENSMUSG00000045288 |
| Gene Name |
USH1 protein network component sans |
| Synonyms |
Sans, js |
| MMRRC Submission |
040665-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.149)
|
| Stock # |
R3546 (G1)
|
| Quality Score |
68 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
115206018-115212867 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 115209723 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 157
(H157L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099326
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055490]
[ENSMUST00000103037]
[ENSMUST00000106544]
|
| AlphaFold |
Q80T11 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055490
|
| SMART Domains |
Protein: ENSMUSP00000062109
Gene: ENSMUSG00000050201
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
102 |
225 |
1e-18 |
PFAM |
|
Pfam:Otopetrin
|
214 |
451 |
5.5e-20 |
PFAM |
|
Pfam:Otopetrin
|
479 |
550 |
8.9e-15 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000103037
AA Change: H157L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288
AA Change: H157L
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
31 |
60 |
1.83e-3 |
SMART |
|
ANK
|
64 |
93 |
8.07e-5 |
SMART |
|
ANK
|
97 |
126 |
6.26e-2 |
SMART |
|
low complexity region
|
159 |
190 |
N/A |
INTRINSIC |
|
PDB:3PVL|B
|
295 |
368 |
3e-30 |
PDB |
|
SAM
|
385 |
449 |
1.34e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106544
|
| SMART Domains |
Protein: ENSMUSP00000102154
Gene: ENSMUSG00000050201
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
30 |
52 |
N/A |
INTRINSIC |
|
transmembrane domain
|
62 |
81 |
N/A |
INTRINSIC |
|
Pfam:Otopetrin
|
102 |
450 |
7.9e-54 |
PFAM |
|
Pfam:Otopetrin
|
476 |
550 |
2e-16 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139466
|
| Meta Mutation Damage Score |
0.2523 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
100% (31/31) |
| MGI Phenotype |
FUNCTION: This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with combined auditory and vision loss. [provided by RefSeq, Sep 2015]
PHENOTYPE: Mutant homozygotes exhibit hyperactivity, head-tossing, circling behavior and profound deafness. Structurally, mutants display disorganized stereocilia of outer ear hair cells and degeneration of inner ear neuroepithelia. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA986860 |
A |
G |
1: 130,668,926 (GRCm39) |
|
probably benign |
Het |
| Bves |
A |
G |
10: 45,230,907 (GRCm39) |
R293G |
probably damaging |
Het |
| Ceacam1 |
T |
C |
7: 25,171,339 (GRCm39) |
N375S |
probably benign |
Het |
| Celf3 |
T |
G |
3: 94,395,845 (GRCm39) |
C304G |
probably damaging |
Het |
| Clcc1 |
T |
A |
3: 108,575,429 (GRCm39) |
C169S |
probably benign |
Het |
| Cyth1 |
A |
G |
11: 118,083,262 (GRCm39) |
V46A |
probably damaging |
Het |
| Ddx23 |
G |
A |
15: 98,548,613 (GRCm39) |
T365M |
probably damaging |
Het |
| Etaa1 |
A |
G |
11: 17,903,823 (GRCm39) |
|
probably benign |
Het |
| Fap |
A |
C |
2: 62,349,355 (GRCm39) |
L478R |
probably damaging |
Het |
| Golga7b |
T |
C |
19: 42,255,510 (GRCm39) |
M129T |
possibly damaging |
Het |
| Hdac7 |
G |
T |
15: 97,705,890 (GRCm39) |
Q361K |
probably damaging |
Het |
| Itk |
A |
G |
11: 46,246,675 (GRCm39) |
L181P |
probably benign |
Het |
| Kdm1b |
C |
T |
13: 47,216,553 (GRCm39) |
R308W |
probably damaging |
Het |
| Khdc4 |
A |
G |
3: 88,600,443 (GRCm39) |
|
probably benign |
Het |
| Lrp1b |
A |
T |
2: 40,490,300 (GRCm39) |
L287H |
probably damaging |
Het |
| Mei1 |
A |
G |
15: 81,982,243 (GRCm39) |
Y677C |
probably damaging |
Het |
| Mslnl |
T |
C |
17: 25,963,943 (GRCm39) |
V424A |
probably damaging |
Het |
| Nbeal1 |
T |
C |
1: 60,317,939 (GRCm39) |
F1959L |
probably damaging |
Het |
| Nlrp6 |
T |
G |
7: 140,506,682 (GRCm39) |
V849G |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,014 (GRCm39) |
I223T |
probably damaging |
Het |
| Pdilt |
C |
A |
7: 119,099,711 (GRCm39) |
E186* |
probably null |
Het |
| Ppp1r27 |
T |
A |
11: 120,441,511 (GRCm39) |
I90F |
probably damaging |
Het |
| Reln |
A |
G |
5: 22,432,598 (GRCm39) |
V134A |
possibly damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc16a7 |
T |
A |
10: 125,130,569 (GRCm39) |
K39* |
probably null |
Het |
| Sult6b1 |
G |
A |
17: 79,214,336 (GRCm39) |
T29I |
probably benign |
Het |
| Tbc1d1 |
G |
A |
5: 64,443,350 (GRCm39) |
R523Q |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,575,450 (GRCm39) |
I25148F |
probably damaging |
Het |
| Utp20 |
T |
C |
10: 88,618,551 (GRCm39) |
K1150E |
probably damaging |
Het |
| Vmn1r7 |
A |
G |
6: 57,001,834 (GRCm39) |
I142T |
possibly damaging |
Het |
|
| Other mutations in Ush1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01961:Ush1g
|
APN |
11 |
115,209,361 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02055:Ush1g
|
APN |
11 |
115,208,925 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0833:Ush1g
|
UTSW |
11 |
115,209,694 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1435:Ush1g
|
UTSW |
11 |
115,209,294 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Ush1g
|
UTSW |
11 |
115,209,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1971:Ush1g
|
UTSW |
11 |
115,209,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4789:Ush1g
|
UTSW |
11 |
115,209,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5074:Ush1g
|
UTSW |
11 |
115,209,123 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5882:Ush1g
|
UTSW |
11 |
115,209,368 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7540:Ush1g
|
UTSW |
11 |
115,209,399 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8841:Ush1g
|
UTSW |
11 |
115,210,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9308:Ush1g
|
UTSW |
11 |
115,209,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9463:Ush1g
|
UTSW |
11 |
115,209,056 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCCTCAGAGACCTTGAAG -3'
(R):5'- TGCCTGGACAATGACTACCAC -3'
Sequencing Primer
(F):5'- TTGAAGGTGCCCTCGCC -3'
(R):5'- ACACGCCACTGGACATGG -3'
|
| Posted On |
2015-09-02 |
Incidental Mutation