Incidental Mutation 'R7540:Ush1g'
ID 583855
Institutional Source Beutler Lab
Gene Symbol Ush1g
Ensembl Gene ENSMUSG00000045288
Gene Name USH1 protein network component sans
Synonyms Sans, js
MMRRC Submission 045612-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.168) question?
Stock # R7540 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 115206018-115212867 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 115209399 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 265 (K265R)
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

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000103037
AA Change: K265R

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288
AA Change: K265R

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0582 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (48/49)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Adamts8 A G 9: 30,870,360 (GRCm39) E650G probably damaging Het
Adgrg7 G A 16: 56,570,792 (GRCm39) T412M probably damaging Het
Ank2 C T 3: 126,781,808 (GRCm39) V7I possibly damaging Het
Bpifb1 G A 2: 154,055,031 (GRCm39) V308M probably damaging Het
C3 A G 17: 57,513,220 (GRCm39) S1476P probably benign Het
Dgkb A T 12: 38,031,789 (GRCm39) probably benign Het
Fmn1 A G 2: 113,359,655 (GRCm39) probably null Het
Foxb1 G A 9: 69,667,141 (GRCm39) Q130* probably null Het
Gemin5 C T 11: 58,021,228 (GRCm39) probably null Het
Ghr T A 15: 3,349,396 (GRCm39) D594V possibly damaging Het
Gm10272 A C 10: 77,542,460 (GRCm39) M1L unknown Het
Gpr161 G A 1: 165,146,404 (GRCm39) V447M probably damaging Het
Hspg2 T A 4: 137,268,751 (GRCm39) S2157T possibly damaging Het
Irs1 A G 1: 82,265,723 (GRCm39) V831A not run Het
Itga8 T A 2: 12,115,848 (GRCm39) I1014L possibly damaging Het
Iws1 T A 18: 32,213,536 (GRCm39) S321R possibly damaging Het
Kctd19 G T 8: 106,113,567 (GRCm39) P702Q probably benign Het
Man2c1 G A 9: 57,047,559 (GRCm39) D739N probably damaging Het
Mboat4 T A 8: 34,591,178 (GRCm39) L205Q probably damaging Het
Meis3 C A 7: 15,911,418 (GRCm39) Y38* probably null Het
Mroh7 G T 4: 106,577,595 (GRCm39) T361K possibly damaging Het
Msantd5f2 C T 4: 73,586,648 (GRCm39) probably benign Het
Myl6b T A 10: 128,332,149 (GRCm39) K106* probably null Het
Naaa T A 5: 92,411,583 (GRCm39) T241S probably benign Het
Neurog3 T G 10: 61,969,756 (GRCm39) I172S probably benign Het
Nub1 T G 5: 24,906,527 (GRCm39) I351R probably damaging Het
Or2t47 C A 11: 58,442,457 (GRCm39) V203L possibly damaging Het
Or3a1c A T 11: 74,046,414 (GRCm39) R145W probably benign Het
Or6c207 A T 10: 129,105,003 (GRCm39) F63Y probably benign Het
Osbp2 T C 11: 3,667,944 (GRCm39) K18E probably damaging Het
Pcdh8 A T 14: 80,008,543 (GRCm39) W7R probably benign Het
Pcsk7 G T 9: 45,838,971 (GRCm39) probably null Het
Plin4 G A 17: 56,411,883 (GRCm39) T716I probably damaging Het
Prkcb G A 7: 122,167,357 (GRCm39) V356I probably damaging Het
Pus7 G A 5: 23,965,244 (GRCm39) T304I probably damaging Het
Rmnd1 A G 10: 4,353,989 (GRCm39) V402A probably damaging Het
Slmap T C 14: 26,181,346 (GRCm39) E329G probably damaging Het
Sytl3 T C 17: 6,949,346 (GRCm39) probably benign Het
Tg A G 15: 66,561,776 (GRCm39) I1087V probably benign Het
Tmco1 A G 1: 167,153,572 (GRCm39) T162A Het
Tti1 G A 2: 157,849,916 (GRCm39) T441I probably benign Het
Tubgcp6 G T 15: 88,986,526 (GRCm39) Q1366K possibly damaging Het
Zdhhc8 A G 16: 18,045,674 (GRCm39) V209A probably damaging Het
Zfp160 T A 17: 21,245,922 (GRCm39) Y157* probably null Het
Zfp423 A T 8: 88,414,695 (GRCm39) C1208S possibly damaging Het
Zfyve26 A T 12: 79,315,450 (GRCm39) V1342E probably damaging Het
Zmym1 A T 4: 126,942,550 (GRCm39) C613S probably benign Het
Other mutations in Ush1g
AlleleSourceChrCoordTypePredicted EffectPPH 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
R3546:Ush1g UTSW 11 115,209,723 (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
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'- CATAGTTCCTTCGAAACACCATG -3'
(R):5'- GACACTCTCAGCTTCTCCAG -3'

Sequencing Primer
(F):5'- TAGTTCCTTCGAAACACCATGGTACC -3'
(R):5'- ACGGCTGCAGCACATGAC -3'
Posted On 2019-10-17