Incidental Mutation 'IGL02485:Ush1c'
ID 295403
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ush1c
Ensembl Gene ENSMUSG00000030838
Gene Name USH1 protein network component harmonin
Synonyms harmonin, Usher syndrome 1C, 2010016F01Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02485
Quality Score
Status
Chromosome 7
Chromosomal Location 45844774-45887927 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45878674 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 83 (I83V)
Ref Sequence ENSEMBL: ENSMUSP00000134783 (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 damaging
Transcript: ENSMUST00000009667
AA Change: I114V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: I114V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000078680
AA Change: I114V

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: I114V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000143155
AA Change: I114V

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: I114V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000154292
AA Change: I114V

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: I114V

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000176371
AA Change: I83V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: I83V

DomainStartEndE-ValueType
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 benign
Transcript: ENSMUST00000177212
AA Change: I114V

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: I114V

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000222454
AA Change: I114V

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
Coding Region Coverage
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl A G 3: 116,572,729 (GRCm39) S841P probably benign Het
Cd59b A C 2: 103,911,449 (GRCm39) probably benign Het
Dop1b T C 16: 93,567,710 (GRCm39) L1379P probably damaging Het
Ercc2 G A 7: 19,127,970 (GRCm39) A433T possibly damaging Het
Gm17175 T C 14: 51,807,068 (GRCm39) probably benign Het
Gm5150 A T 3: 16,044,916 (GRCm39) I103N probably damaging Het
Igf1 A G 10: 87,700,608 (GRCm39) M11V probably benign Het
Incenp T C 19: 9,870,732 (GRCm39) N299S unknown Het
Maneal A T 4: 124,750,563 (GRCm39) S398T probably damaging Het
Map1a A G 2: 121,129,769 (GRCm39) N195S probably damaging Het
Mars2 T C 1: 55,276,750 (GRCm39) F118L possibly damaging Het
Mast4 A G 13: 102,872,004 (GRCm39) S2263P probably benign Het
Mrgprb1 C A 7: 48,097,465 (GRCm39) R149L possibly damaging Het
Myo1d T C 11: 80,557,407 (GRCm39) D511G probably damaging Het
Ntan1 T C 16: 13,652,540 (GRCm39) probably benign Het
Nxf2 A G X: 133,857,216 (GRCm39) F158L probably damaging Het
Odr4 A G 1: 150,239,240 (GRCm39) probably null Het
Or10g3b T A 14: 52,587,501 (GRCm39) M1L possibly damaging Het
Potefam1 A T 2: 111,058,670 (GRCm39) V94E probably damaging Het
Trpm1 C T 7: 63,918,862 (GRCm39) A734V possibly damaging Het
Upf2 G A 2: 6,032,102 (GRCm39) E883K unknown Het
Vmn2r60 C A 7: 41,844,890 (GRCm39) T751N possibly damaging Het
Zfp146 A G 7: 29,862,015 (GRCm39) I9T probably benign Het
Zfp592 G A 7: 80,687,718 (GRCm39) probably benign Het
Zswim8 C T 14: 20,761,955 (GRCm39) L243F probably damaging Het
Other mutations in Ush1c
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R4043: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
Posted On 2015-04-16