Incidental Mutation 'R7424:Ush1c'
ID 575919
Institutional Source Beutler Lab
Gene Symbol Ush1c
Ensembl Gene ENSMUSG00000030838
Gene Name USH1 protein network component harmonin
Synonyms harmonin, 2010016F01Rik
MMRRC Submission 045502-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7424 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 46195350-46238503 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46225555 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 131 (I131F)
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 benign
Transcript: ENSMUST00000009667
AA Change: I162F

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000009667
Gene: ENSMUSG00000030838
AA Change: I162F

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 benign
Transcript: ENSMUST00000078680
AA Change: I162F

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000077747
Gene: ENSMUSG00000030838
AA Change: I162F

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
AA Change: I162F

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119676
Gene: ENSMUSG00000030838
AA Change: I162F

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 benign
Transcript: ENSMUST00000154292
AA Change: I162F

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000114494
Gene: ENSMUSG00000030838
AA Change: I162F

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 benign
Transcript: ENSMUST00000176371
AA Change: I131F

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000134783
Gene: ENSMUSG00000030838
AA Change: I131F

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 damaging
Transcript: ENSMUST00000177212
AA Change: I162F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000135734
Gene: ENSMUSG00000030838
AA Change: I162F

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 benign
Transcript: ENSMUST00000222454
AA Change: I162F

PolyPhen 2 Score 0.420 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.3329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 99% (76/77)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,145,545 (GRCm38) R71C probably damaging Het
Aanat A T 11: 116,595,629 (GRCm38) probably benign Het
Ahrr G T 13: 74,257,545 (GRCm38) S91* probably null Het
Ampd1 A T 3: 103,088,442 (GRCm38) N223Y probably benign Het
Ankar T G 1: 72,680,058 (GRCm38) N544T probably damaging Het
Ankk1 A G 9: 49,418,750 (GRCm38) S302P possibly damaging Het
Bcr T C 10: 75,157,100 (GRCm38) V809A probably benign Het
Bpifb2 A G 2: 153,890,540 (GRCm38) N353S possibly damaging Het
Cyth1 A T 11: 118,184,009 (GRCm38) probably null Het
Ddx5 A T 11: 106,782,180 (GRCm38) N506K probably benign Het
Dnaja1 A T 4: 40,730,244 (GRCm38) I239F probably benign Het
Ethe1 C T 7: 24,606,251 (GRCm38) T141I probably damaging Het
Fam160b2 T C 14: 70,594,007 (GRCm38) H29R probably damaging Het
Gdap2 A T 3: 100,202,066 (GRCm38) I36F unknown Het
Gm13030 A T 4: 138,871,266 (GRCm38) D115E unknown Het
Gm13103 C T 4: 143,853,209 (GRCm38) P455S probably benign Het
Gm17019 A T 5: 15,029,372 (GRCm38) L227Q probably damaging Het
Gm9195 T A 14: 72,435,777 (GRCm38) E2517D possibly damaging Het
Gramd2 T A 9: 59,708,071 (GRCm38) V39D possibly damaging Het
Hmcn1 C T 1: 150,630,266 (GRCm38) W3836* probably null Het
Hspa14 C T 2: 3,489,041 (GRCm38) D494N possibly damaging Het
Ifit2 A G 19: 34,573,198 (GRCm38) N46S probably benign Het
Ifna6 A T 4: 88,827,807 (GRCm38) E131V possibly damaging Het
Ift140 T C 17: 25,037,036 (GRCm38) V504A possibly damaging Het
Irgc1 T C 7: 24,432,228 (GRCm38) N388S probably damaging Het
Itgal T A 7: 127,317,365 (GRCm38) V743E probably benign Het
Itih5 T C 2: 10,245,637 (GRCm38) S716P probably damaging Het
Kcnab1 A T 3: 65,266,503 (GRCm38) K78N possibly damaging Het
Kif1a A T 1: 93,054,317 (GRCm38) V787E possibly damaging Het
Krt15 A T 11: 100,135,560 (GRCm38) V100E possibly damaging Het
Krt39 A T 11: 99,518,091 (GRCm38) V293E probably damaging Het
Lrrn4 A G 2: 132,869,743 (GRCm38) F720S possibly damaging Het
Map2 G A 1: 66,414,824 (GRCm38) A958T possibly damaging Het
Map3k9 A G 12: 81,724,097 (GRCm38) S906P probably benign Het
Mdc1 T C 17: 35,853,309 (GRCm38) S1250P probably benign Het
Meltf G A 16: 31,884,946 (GRCm38) V164I probably damaging Het
Mtap T G 4: 89,179,462 (GRCm38) probably null Het
Mtus1 C A 8: 41,022,406 (GRCm38) V184F probably damaging Het
Myh1 A T 11: 67,213,663 (GRCm38) D1015V probably damaging Het
Ndrg1 T C 15: 66,944,938 (GRCm38) probably null Het
Nkd1 G T 8: 88,585,175 (GRCm38) V130L probably benign Het
Nsfl1c A G 2: 151,500,753 (GRCm38) D81G probably benign Het
Nt5c1b T A 12: 10,381,391 (GRCm38) probably null Het
Nucb1 T C 7: 45,498,778 (GRCm38) K204E possibly damaging Het
Nwd1 T G 8: 72,675,173 (GRCm38) M774R possibly damaging Het
Olfr165 A T 16: 19,407,194 (GRCm38) V274E probably damaging Het
Olfr262 A T 19: 12,240,954 (GRCm38) S236T possibly damaging Het
Olfr654 G C 7: 104,588,700 (GRCm38) E299Q probably damaging Het
Pan3 T A 5: 147,536,272 (GRCm38) probably null Het
Pcdh15 A T 10: 74,506,485 (GRCm38) T1135S probably benign Het
Pfas A G 11: 69,000,092 (GRCm38) I331T probably damaging Het
Plxna2 T A 1: 194,806,339 (GRCm38) I1641N probably damaging Het
Ptar1 A T 19: 23,718,101 (GRCm38) R311W probably damaging Het
Ranbp2 T G 10: 58,479,194 (GRCm38) M1912R probably damaging Het
Rbm12 A G 2: 156,097,303 (GRCm38) F350L possibly damaging Het
Sdhaf1 T C 7: 30,322,043 (GRCm38) D96G probably benign Het
Serpinb6b T A 13: 32,968,667 (GRCm38) M53K probably damaging Het
Sh2d6 A T 6: 72,517,164 (GRCm38) L147Q probably benign Het
Slc19a2 T A 1: 164,260,876 (GRCm38) C298S probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,660,334 (GRCm38) probably benign Het
St8sia2 T A 7: 73,960,902 (GRCm38) Q211L possibly damaging Het
Sult2a2 T C 7: 13,734,897 (GRCm38) I96T possibly damaging Het
Tab2 G T 10: 7,907,483 (GRCm38) H678Q probably damaging Het
Tnfaip6 A G 2: 52,038,216 (GRCm38) E14G probably benign Het
Trip11 A T 12: 101,885,198 (GRCm38) L869H probably damaging Het
Tslp T C 18: 32,819,080 (GRCm38) Y133H not run Het
Ttn A G 2: 76,932,143 (GRCm38) V3374A unknown Het
Ttn T C 2: 76,740,990 (GRCm38) I26520V probably damaging Het
Tubgcp2 T A 7: 140,007,924 (GRCm38) I263F possibly damaging Het
Uaca A G 9: 60,870,110 (GRCm38) E593G probably damaging Het
Unc13b C T 4: 43,172,235 (GRCm38) T1021I unknown Het
Usp24 C A 4: 106,379,107 (GRCm38) D997E probably benign Het
Usp54 T C 14: 20,577,040 (GRCm38) T517A probably benign Het
Vmn1r151 A T 7: 22,499,080 (GRCm38) M200K possibly damaging Het
Vmn2r43 T C 7: 8,255,329 (GRCm38) D295G probably damaging Het
Vmn2r70 G A 7: 85,563,868 (GRCm38) P444S probably damaging Het
Vmn2r85 G T 10: 130,418,980 (GRCm38) P612T probably damaging Het
Vps13d A T 4: 145,148,747 (GRCm38) V1736D Het
Zbtb11 A T 16: 55,990,487 (GRCm38) H336L probably benign Het
Other mutations in Ush1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ush1c APN 7 46,196,770 (GRCm38) missense probably benign 0.00
IGL01074:Ush1c APN 7 46,225,250 (GRCm38) splice site probably benign
IGL01099:Ush1c APN 7 46,205,262 (GRCm38) missense probably damaging 0.99
IGL01107:Ush1c APN 7 46,209,901 (GRCm38) missense probably damaging 1.00
IGL01446:Ush1c APN 7 46,208,956 (GRCm38) missense possibly damaging 0.86
IGL02267:Ush1c APN 7 46,209,298 (GRCm38) missense possibly damaging 0.92
IGL02307:Ush1c APN 7 46,197,188 (GRCm38) splice site probably benign
IGL02448:Ush1c APN 7 46,209,137 (GRCm38) missense possibly damaging 0.51
IGL02485:Ush1c APN 7 46,229,250 (GRCm38) missense probably damaging 0.99
IGL02896:Ush1c APN 7 46,198,415 (GRCm38) missense probably benign 0.00
IGL03031:Ush1c APN 7 46,224,937 (GRCm38) splice site probably benign
R0085:Ush1c UTSW 7 46,225,555 (GRCm38) missense probably benign 0.09
R0328:Ush1c UTSW 7 46,225,448 (GRCm38) splice site probably benign
R0574:Ush1c UTSW 7 46,196,804 (GRCm38) missense possibly damaging 0.68
R0600:Ush1c UTSW 7 46,224,908 (GRCm38) missense probably benign 0.00
R1187:Ush1c UTSW 7 46,208,914 (GRCm38) missense probably benign 0.01
R1406:Ush1c UTSW 7 46,225,541 (GRCm38) critical splice donor site probably null
R1406:Ush1c UTSW 7 46,225,541 (GRCm38) critical splice donor site probably null
R1716:Ush1c UTSW 7 46,195,728 (GRCm38) missense probably benign 0.18
R1727:Ush1c UTSW 7 46,209,231 (GRCm38) missense probably damaging 1.00
R1822:Ush1c UTSW 7 46,209,901 (GRCm38) missense probably damaging 1.00
R1864:Ush1c UTSW 7 46,219,392 (GRCm38) nonsense probably null
R2000:Ush1c UTSW 7 46,221,433 (GRCm38) missense probably damaging 0.99
R2063:Ush1c UTSW 7 46,229,481 (GRCm38) missense probably damaging 1.00
R2068:Ush1c UTSW 7 46,229,481 (GRCm38) missense probably damaging 1.00
R2944:Ush1c UTSW 7 46,200,982 (GRCm38) missense probably damaging 1.00
R4042:Ush1c UTSW 7 46,221,528 (GRCm38) missense probably damaging 0.97
R4043:Ush1c UTSW 7 46,221,528 (GRCm38) missense probably damaging 0.97
R4108:Ush1c UTSW 7 46,198,445 (GRCm38) missense probably damaging 1.00
R4823:Ush1c UTSW 7 46,195,733 (GRCm38) missense probably benign 0.00
R4862:Ush1c UTSW 7 46,229,240 (GRCm38) missense probably damaging 1.00
R5534:Ush1c UTSW 7 46,221,423 (GRCm38) missense probably damaging 1.00
R5922:Ush1c UTSW 7 46,204,128 (GRCm38) critical splice donor site probably null
R6249:Ush1c UTSW 7 46,214,959 (GRCm38) missense probably damaging 1.00
R6475:Ush1c UTSW 7 46,229,219 (GRCm38) missense probably damaging 0.99
R6485:Ush1c UTSW 7 46,209,110 (GRCm38) missense probably benign
R6667:Ush1c UTSW 7 46,225,624 (GRCm38) missense probably damaging 1.00
R7177:Ush1c UTSW 7 46,229,219 (GRCm38) missense probably damaging 0.99
R7419:Ush1c UTSW 7 46,229,255 (GRCm38) missense probably damaging 1.00
R7811:Ush1c UTSW 7 46,205,286 (GRCm38) nonsense probably null
R7862:Ush1c UTSW 7 46,221,424 (GRCm38) missense probably damaging 0.99
R8182:Ush1c UTSW 7 46,198,351 (GRCm38) critical splice donor site probably null
R8340:Ush1c UTSW 7 46,211,206 (GRCm38) missense probably benign 0.41
R8470:Ush1c UTSW 7 46,209,250 (GRCm38) missense probably damaging 1.00
R8478:Ush1c UTSW 7 46,221,433 (GRCm38) missense probably damaging 0.99
R9025:Ush1c UTSW 7 46,197,190 (GRCm38) splice site probably benign
R9076:Ush1c UTSW 7 46,201,056 (GRCm38) missense probably damaging 1.00
R9129:Ush1c UTSW 7 46,205,205 (GRCm38) missense probably benign 0.23
R9398:Ush1c UTSW 7 46,220,510 (GRCm38) missense probably benign 0.08
R9418:Ush1c UTSW 7 46,222,868 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTAGATCCCAGGACTCTTGGC -3'
(R):5'- GCTTTTGCTTGATGACAGCCC -3'

Sequencing Primer
(F):5'- ACTCTTGGCCTAGAGGAGAC -3'
(R):5'- CCAGGTAGGGGATGAAATT -3'
Posted On 2019-10-07