Incidental Mutation 'IGL01961:Ush1g'
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ID182409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ush1g
Ensembl Gene ENSMUSG00000045288
Gene NameUSH1 protein network component sans
Synonymsjs, Sans
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.328) question?
Stock #IGL01961
Quality Score
Status
Chromosome11
Chromosomal Location115315192-115322041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 115318535 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 278 (S278P)
Ref Sequence ENSEMBL: ENSMUSP00000099326 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055490] [ENSMUST00000103037] [ENSMUST00000106544]
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: S278P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099326
Gene: ENSMUSG00000045288
AA Change: S278P

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131050
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139466
Coding Region Coverage
Validation Efficiency
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: 15 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Catsperg2 A G 7: 29,721,672 probably benign Het
Elmsan1 T C 12: 84,173,614 K189E probably damaging Het
Gm9958 C A 5: 90,367,978 probably benign Het
Kdelr2 T C 5: 143,420,801 V202A probably benign Het
Mlh3 T C 12: 85,266,344 R1023G probably benign Het
Pcdhb7 A G 18: 37,342,473 K221E probably damaging Het
Ptprq A G 10: 107,643,654 S1171P probably damaging Het
Sez6l G A 5: 112,471,731 T345M probably damaging Het
Skint7 T C 4: 111,977,463 Y15H probably benign Het
Strip2 T C 6: 29,928,427 probably benign Het
Syne1 C A 10: 5,043,723 R8339M possibly damaging Het
Tmtc3 A T 10: 100,447,031 D887E probably benign Het
Wars A T 12: 108,866,170 M323K probably damaging Het
Zc3h11a G A 1: 133,627,067 R392W probably benign Het
Zswim8 T C 14: 20,712,334 F305L possibly damaging Het
Other mutations in Ush1g
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02055:Ush1g APN 11 115318099 missense possibly damaging 0.94
R0833:Ush1g UTSW 11 115318868 missense possibly damaging 0.71
R1435:Ush1g UTSW 11 115318468 missense probably damaging 1.00
R1969:Ush1g UTSW 11 115318454 missense probably damaging 1.00
R1971:Ush1g UTSW 11 115318454 missense probably damaging 1.00
R3546:Ush1g UTSW 11 115318897 missense probably damaging 1.00
R4789:Ush1g UTSW 11 115318640 missense probably damaging 1.00
R5074:Ush1g UTSW 11 115318297 missense possibly damaging 0.94
R5882:Ush1g UTSW 11 115318542 missense probably damaging 0.98
Posted On2014-05-07