Incidental Mutation 'R4997:Coch'
ID 385369
Institutional Source Beutler Lab
Gene Symbol Coch
Ensembl Gene ENSMUSG00000020953
Gene Name cochlin
Synonyms Coch-5B2, D12H14S564E
MMRRC Submission 042591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4997 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 51640156-51652558 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 51649964 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000128127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085412] [ENSMUST00000164782]
AlphaFold Q62507
Predicted Effect probably null
Transcript: ENSMUST00000085412
SMART Domains Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LCCL 32 114 3.64e-47 SMART
VWA 165 337 2.06e-33 SMART
VWA 367 540 6.43e-44 SMART
Predicted Effect probably null
Transcript: ENSMUST00000164782
SMART Domains Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
LCCL 32 114 3.64e-47 SMART
VWA 165 337 2.06e-33 SMART
VWA 367 540 6.43e-44 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells. This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9 (autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein. Additional splice variants encoding distinct isoforms have been described but their biological validities have not been demonstrated. [provided by RefSeq, Oct 2008]
PHENOTYPE: Homozygotes for a point mutation have vestibular and hearing dysfunctions that worsen with age. Homozyogtes for a null allele have no abnormal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630023A22Rik A T 14: 33,775,623 (GRCm39) M1L probably benign Het
Abca7 C A 10: 79,843,154 (GRCm39) Q1210K possibly damaging Het
Abcc4 C T 14: 118,753,915 (GRCm39) W1024* probably null Het
Accs A T 2: 93,672,228 (GRCm39) Y213* probably null Het
Adam6a G T 12: 113,508,991 (GRCm39) G455C probably damaging Het
Adcy1 A C 11: 7,111,298 (GRCm39) Y863S probably benign Het
Adgrg1 A G 8: 95,736,148 (GRCm39) D434G probably damaging Het
Afap1l1 C T 18: 61,884,879 (GRCm39) R202Q probably benign Het
Aldh3a1 T C 11: 61,103,137 (GRCm39) V27A probably benign Het
Antxr2 A G 5: 98,125,553 (GRCm39) F235L probably benign Het
Arhgap23 T A 11: 97,342,846 (GRCm39) V376E probably damaging Het
Brca1 A C 11: 101,415,159 (GRCm39) S992A probably damaging Het
Brcc3dc A G 10: 108,535,649 (GRCm39) I102T probably benign Het
Calcrl A T 2: 84,181,592 (GRCm39) C185* probably null Het
Cep152 T C 2: 125,428,271 (GRCm39) T787A probably benign Het
Col5a1 T A 2: 27,922,794 (GRCm39) Y287* probably null Het
Dis3l A G 9: 64,219,224 (GRCm39) S569P possibly damaging Het
Dnai1 A G 4: 41,597,919 (GRCm39) I74V possibly damaging Het
Dpy19l4 A G 4: 11,287,493 (GRCm39) V394A probably benign Het
Egfem1 A G 3: 29,207,739 (GRCm39) H122R probably benign Het
Endou A G 15: 97,617,458 (GRCm39) L164P probably damaging Het
Epgn A G 5: 91,180,098 (GRCm39) E80G possibly damaging Het
Fcgbpl1 T G 7: 27,843,349 (GRCm39) S746A possibly damaging Het
Fitm1 T C 14: 55,814,364 (GRCm39) S287P probably benign Het
Foxm1 A G 6: 128,342,731 (GRCm39) N22D probably benign Het
Gsdmc A T 15: 63,648,629 (GRCm39) M426K probably damaging Het
Hmcn2 T A 2: 31,291,720 (GRCm39) V2418D probably damaging Het
Hs3st2 T A 7: 121,099,679 (GRCm39) L175Q possibly damaging Het
Il1r2 T C 1: 40,160,206 (GRCm39) probably null Het
Il27ra A T 8: 84,766,156 (GRCm39) Y209* probably null Het
Inpp5a A T 7: 138,980,654 (GRCm39) S31C probably benign Het
Invs A G 4: 48,396,332 (GRCm39) D335G probably damaging Het
Isg15 C T 4: 156,284,154 (GRCm39) E125K possibly damaging Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lama4 C A 10: 38,968,262 (GRCm39) T1468K probably damaging Het
Lce1a2 A G 3: 92,576,395 (GRCm39) S56P unknown Het
Llgl1 C T 11: 60,600,394 (GRCm39) P581L probably benign Het
Lmf1 G A 17: 25,807,650 (GRCm39) W164* probably null Het
Mad2l1bp G T 17: 46,463,804 (GRCm39) C73* probably null Het
Mpzl1 A C 1: 165,429,350 (GRCm39) V230G probably damaging Het
Myo3b A G 2: 70,088,427 (GRCm39) T869A possibly damaging Het
Ncor2 T C 5: 125,111,074 (GRCm39) H1316R probably damaging Het
Nlrp1b T A 11: 71,109,160 (GRCm39) I114F probably damaging Het
Nsun7 A G 5: 66,453,182 (GRCm39) I632M probably benign Het
Nubp1 T C 16: 10,239,185 (GRCm39) I234T probably benign Het
Olfml1 A G 7: 107,170,413 (GRCm39) D100G probably damaging Het
Or1e1b-ps1 T A 11: 73,845,612 (GRCm39) L32Q probably damaging Het
Or5p73 C A 7: 108,064,701 (GRCm39) Q57K probably benign Het
Or7g23 A T 9: 19,086,627 (GRCm39) L115Q probably damaging Het
Osmr G T 15: 6,845,120 (GRCm39) P882Q probably benign Het
Peg10 TCAGGATCC TCAGGATCCCCAGCAGGATCC 6: 4,756,457 (GRCm39) probably benign Het
Per2 T A 1: 91,378,505 (GRCm39) T15S probably benign Het
Piezo2 A G 18: 63,216,184 (GRCm39) Y1184H probably damaging Het
Pik3c2b C T 1: 133,032,819 (GRCm39) A1560V probably damaging Het
Pik3cd A C 4: 149,743,441 (GRCm39) L256R probably damaging Het
Ppl C A 16: 4,907,235 (GRCm39) R1020L probably damaging Het
Ppp1r10 A G 17: 36,234,976 (GRCm39) N60S probably damaging Het
Prkcg T C 7: 3,371,097 (GRCm39) probably null Het
Prkci T C 3: 31,085,375 (GRCm39) probably null Het
Prrc2b A G 2: 32,112,323 (GRCm39) Y1929C probably damaging Het
Prss12 T C 3: 123,240,857 (GRCm39) V17A probably benign Het
Qtrt1 A G 9: 21,328,654 (GRCm39) N206S probably benign Het
Rad54l2 A C 9: 106,600,108 (GRCm39) S50A possibly damaging Het
Rhov C T 2: 119,100,949 (GRCm39) R96H probably damaging Het
Rph3a A T 5: 121,101,906 (GRCm39) V110E probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Ryr2 A T 13: 11,610,192 (GRCm39) N646K probably benign Het
Scn8a A G 15: 100,854,935 (GRCm39) T141A probably damaging Het
Serping1 T C 2: 84,600,629 (GRCm39) R238G possibly damaging Het
Shank3 T A 15: 89,433,901 (GRCm39) W1474R probably damaging Het
Slc16a12 T A 19: 34,652,358 (GRCm39) M263L probably benign Het
Spata13 T C 14: 60,946,908 (GRCm39) V652A probably damaging Het
Spata31 G A 13: 65,067,537 (GRCm39) M66I probably benign Het
Spem2 T C 11: 69,708,558 (GRCm39) I136V probably benign Het
Supt5 T C 7: 28,015,462 (GRCm39) H925R probably benign Het
Syk A T 13: 52,766,484 (GRCm39) K190* probably null Het
Thsd1 T A 8: 22,733,340 (GRCm39) V129D probably damaging Het
Tiprl A G 1: 165,047,759 (GRCm39) V174A possibly damaging Het
Tmed4 T A 11: 6,224,500 (GRCm39) probably null Het
Tnfrsf19 T C 14: 61,208,658 (GRCm39) T288A probably benign Het
Tnfrsf25 T C 4: 152,202,153 (GRCm39) probably null Het
Tpd52 A G 3: 9,000,056 (GRCm39) L121S probably damaging Het
Trim30a T A 7: 104,060,827 (GRCm39) K316N probably benign Het
Ttc3 T G 16: 94,253,841 (GRCm39) D1221E probably damaging Het
Ttn C T 2: 76,714,403 (GRCm39) probably benign Het
Ttn T C 2: 76,776,615 (GRCm39) I1514V probably benign Het
Ulk2 T C 11: 61,689,982 (GRCm39) T671A probably benign Het
Wasf1 C T 10: 40,810,600 (GRCm39) P281S probably damaging Het
Wnt10b C A 15: 98,672,084 (GRCm39) R211L probably damaging Het
Xpnpep3 T A 15: 81,332,577 (GRCm39) C371* probably null Het
Zfp41 C T 15: 75,490,617 (GRCm39) probably benign Het
Zfp553 T A 7: 126,834,683 (GRCm39) N79K probably benign Het
Zmynd8 G T 2: 165,634,736 (GRCm39) D1096E probably benign Het
Other mutations in Coch
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01514:Coch APN 12 51,650,136 (GRCm39) missense probably damaging 1.00
IGL01803:Coch APN 12 51,650,082 (GRCm39) missense probably benign 0.15
IGL02613:Coch APN 12 51,642,132 (GRCm39) missense possibly damaging 0.76
IGL02697:Coch APN 12 51,643,821 (GRCm39) missense probably benign 0.00
IGL03351:Coch APN 12 51,649,989 (GRCm39) missense probably benign 0.05
R0732:Coch UTSW 12 51,642,155 (GRCm39) missense probably damaging 1.00
R1485:Coch UTSW 12 51,645,072 (GRCm39) missense probably damaging 1.00
R1757:Coch UTSW 12 51,649,631 (GRCm39) missense probably damaging 1.00
R2073:Coch UTSW 12 51,649,472 (GRCm39) missense probably benign 0.00
R2231:Coch UTSW 12 51,649,648 (GRCm39) missense probably benign
R2440:Coch UTSW 12 51,643,345 (GRCm39) missense probably damaging 0.99
R3104:Coch UTSW 12 51,650,204 (GRCm39) missense probably benign
R3623:Coch UTSW 12 51,649,609 (GRCm39) missense probably benign 0.06
R3624:Coch UTSW 12 51,649,609 (GRCm39) missense probably benign 0.06
R3932:Coch UTSW 12 51,650,121 (GRCm39) missense probably damaging 1.00
R3933:Coch UTSW 12 51,650,121 (GRCm39) missense probably damaging 1.00
R3945:Coch UTSW 12 51,648,595 (GRCm39) critical splice acceptor site probably null
R3946:Coch UTSW 12 51,648,595 (GRCm39) critical splice acceptor site probably null
R4423:Coch UTSW 12 51,644,932 (GRCm39) splice site probably null
R4660:Coch UTSW 12 51,642,268 (GRCm39) missense probably benign 0.21
R4732:Coch UTSW 12 51,651,802 (GRCm39) missense probably benign 0.28
R4733:Coch UTSW 12 51,651,802 (GRCm39) missense probably benign 0.28
R4844:Coch UTSW 12 51,649,477 (GRCm39) missense probably damaging 0.98
R5152:Coch UTSW 12 51,642,225 (GRCm39) missense probably benign 0.00
R5173:Coch UTSW 12 51,643,290 (GRCm39) nonsense probably null
R6134:Coch UTSW 12 51,649,536 (GRCm39) missense probably damaging 1.00
R6481:Coch UTSW 12 51,644,956 (GRCm39) missense probably damaging 1.00
R6497:Coch UTSW 12 51,649,504 (GRCm39) missense probably benign 0.06
R6714:Coch UTSW 12 51,649,520 (GRCm39) missense probably damaging 1.00
R6896:Coch UTSW 12 51,649,652 (GRCm39) missense possibly damaging 0.62
R7242:Coch UTSW 12 51,640,344 (GRCm39) start gained probably benign
R7463:Coch UTSW 12 51,640,408 (GRCm39) start codon destroyed probably null 0.02
R7595:Coch UTSW 12 51,645,016 (GRCm39) missense probably damaging 1.00
R7938:Coch UTSW 12 51,643,366 (GRCm39) splice site probably null
R8047:Coch UTSW 12 51,650,496 (GRCm39) critical splice donor site probably null
R8085:Coch UTSW 12 51,650,031 (GRCm39) missense possibly damaging 0.64
R9052:Coch UTSW 12 51,640,408 (GRCm39) start codon destroyed probably null 0.02
R9175:Coch UTSW 12 51,645,060 (GRCm39) missense possibly damaging 0.96
R9533:Coch UTSW 12 51,650,132 (GRCm39) missense possibly damaging 0.69
R9617:Coch UTSW 12 51,645,034 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGCCCCTAACTAGATTAGTGAAC -3'
(R):5'- GAGCCGTCAATCAGAAAGGC -3'

Sequencing Primer
(F):5'- TCCTAGCTATTCAATGAGACCAAG -3'
(R):5'- AAGGCAATGTTCACTGAGTTGTAGC -3'
Posted On 2016-05-10