Incidental Mutation 'R1406:Ush1c'
ID 160385
Institutional Source Beutler Lab
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 # R1406 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 45844774-45887927 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 45874965 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009667] [ENSMUST00000078680] [ENSMUST00000143155] [ENSMUST00000154292] [ENSMUST00000154292] [ENSMUST00000176371] [ENSMUST00000176371] [ENSMUST00000177212] [ENSMUST00000177212] [ENSMUST00000222454]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000009667
SMART Domains Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838

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 probably null
Transcript: ENSMUST00000078680
SMART Domains Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838

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 probably benign
Transcript: ENSMUST00000143155
SMART Domains Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838

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 probably null
Transcript: ENSMUST00000154292
SMART Domains Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838

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 null
Transcript: ENSMUST00000154292
SMART Domains Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838

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 null
Transcript: ENSMUST00000176371
SMART Domains Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838

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 null
Transcript: ENSMUST00000176371
SMART Domains Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838

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 null
Transcript: ENSMUST00000177212
SMART Domains Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838

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 probably null
Transcript: ENSMUST00000177212
SMART Domains Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838

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 probably null
Transcript: ENSMUST00000222454
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 98.2%
  • 10x: 92.2%
  • 20x: 76.0%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap11 T C 14: 78,750,189 (GRCm39) T733A probably benign Het
Antxrl A G 14: 33,794,999 (GRCm39) N476D possibly damaging Het
Armc8 G T 9: 99,405,301 (GRCm39) P268Q probably benign Het
Asb8 C A 15: 98,034,304 (GRCm39) G84C probably damaging Het
BC035044 A T 6: 128,862,047 (GRCm39) probably null Het
Caprin1 A G 2: 103,606,332 (GRCm39) F303L probably benign Het
Cdh20 G A 1: 109,988,862 (GRCm39) V255I probably benign Het
Ctdspl2 G A 2: 121,837,349 (GRCm39) R371Q probably damaging Het
Dctn4 T A 18: 60,689,402 (GRCm39) D431E probably benign Het
Dhx40 T C 11: 86,688,571 (GRCm39) E284G probably benign Het
Dhx9 A G 1: 153,340,684 (GRCm39) V652A probably damaging Het
Fnip2 G T 3: 79,415,398 (GRCm39) N213K possibly damaging Het
Gm17535 A G 9: 3,035,804 (GRCm39) Y224C probably null Het
Itch A G 2: 155,048,274 (GRCm39) E546G possibly damaging Het
Map3k20 A T 2: 72,219,838 (GRCm39) I257F probably damaging Het
Mdc1 C T 17: 36,164,424 (GRCm39) T1324I probably benign Het
Mertk T C 2: 128,613,406 (GRCm39) I474T probably benign Het
Nav3 A G 10: 109,719,495 (GRCm39) V156A possibly damaging Het
Nbea A G 3: 55,944,702 (GRCm39) V554A probably benign Het
Or10z1 T A 1: 174,078,427 (GRCm39) E22V possibly damaging Het
Or13c7c C T 4: 43,835,582 (GRCm39) V303M possibly damaging Het
Or4f57 A G 2: 111,790,926 (GRCm39) V164A probably benign Het
Pask A G 1: 93,249,373 (GRCm39) Y676H probably benign Het
Pcare T C 17: 72,056,156 (GRCm39) N1174D probably benign Het
Rab32 A G 10: 10,426,637 (GRCm39) V103A probably damaging Het
Rp1 T C 1: 4,422,144 (GRCm39) E262G possibly damaging Het
Rtn4 A G 11: 29,658,236 (GRCm39) T797A probably benign Het
Sall1 A T 8: 89,759,072 (GRCm39) I344K probably benign Het
Scnn1b T C 7: 121,501,767 (GRCm39) probably null Het
Slc7a2 G T 8: 41,358,622 (GRCm39) G322W probably damaging Het
Snx29 A G 16: 11,217,657 (GRCm39) M153V probably benign Het
Sp110 T G 1: 85,506,800 (GRCm39) E421A probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Vmn2r8 C T 5: 108,950,234 (GRCm39) M204I probably benign Het
Zfp839 C T 12: 110,832,744 (GRCm39) T554M 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAGGAGACTCACAGATAAGCCTGC -3'
(R):5'- AAAAGTGTTGCCTGCCGCTGTC -3'

Sequencing Primer
(F):5'- GCTTACCTCTTCACAGGGATCAG -3'
(R):5'- AAGCTTTTGCTTGATGACAGCC -3'
Posted On 2014-03-14