Incidental Mutation 'R4423:Coch'
ID 327225
Institutional Source Beutler Lab
Gene Symbol Coch
Ensembl Gene ENSMUSG00000020953
Gene Name cochlin
Synonyms Coch-5B2, D12H14S564E
MMRRC Submission 041143-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4423 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 51640156-51652558 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 51644932 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218382
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220173
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C A 10: 100,441,495 (GRCm39) P100Q probably damaging Het
A630010A05Rik A G 16: 14,436,577 (GRCm39) Y210C probably benign Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
Asgr2 G A 11: 69,996,211 (GRCm39) V218I probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfap144 A T 11: 58,687,357 (GRCm39) probably null Het
Cnot10 T A 9: 114,446,988 (GRCm39) I363F probably damaging Het
Dnah1 C T 14: 31,006,718 (GRCm39) G2199D probably benign Het
Dock9 A G 14: 121,799,465 (GRCm39) probably null Het
Dst T C 1: 34,227,474 (GRCm39) I1689T possibly damaging Het
Eif2ak4 T C 2: 118,269,547 (GRCm39) F762S probably benign Het
Eif2b5 A G 16: 20,320,469 (GRCm39) D195G probably benign Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Far1 T A 7: 113,139,805 (GRCm39) S84R probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Galnt15 A T 14: 31,780,226 (GRCm39) I508F possibly damaging Het
Grik1 T C 16: 87,720,088 (GRCm39) T745A probably benign Het
Hira A G 16: 18,774,952 (GRCm39) D959G possibly damaging Het
Hsf5 T C 11: 87,522,460 (GRCm39) L351P probably damaging Het
Icosl C T 10: 77,907,707 (GRCm39) T89I possibly damaging Het
Iws1 T A 18: 32,216,503 (GRCm39) N414K probably damaging Het
Kif1b A G 4: 149,298,562 (GRCm39) S1035P probably damaging Het
Lcp2 G T 11: 34,028,226 (GRCm39) probably benign Het
Map4 C T 9: 109,896,662 (GRCm39) T631I probably damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Nin T A 12: 70,089,752 (GRCm39) K1221M probably damaging Het
Nup155 A G 15: 8,150,948 (GRCm39) T333A probably damaging Het
Or10d4c A G 9: 39,558,412 (GRCm39) Y130C probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Or8b43 A G 9: 38,360,662 (GRCm39) T165A probably benign Het
Plod2 T C 9: 92,484,042 (GRCm39) L502S probably benign Het
Pnpt1 A G 11: 29,103,375 (GRCm39) probably null Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkcq T C 2: 11,260,980 (GRCm39) I344T possibly damaging Het
Rbl1 A G 2: 157,010,875 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sec62 T C 3: 30,868,431 (GRCm39) M220T unknown Het
Shprh T G 10: 11,062,262 (GRCm39) V1219G possibly damaging Het
Slc25a46 T C 18: 31,742,651 (GRCm39) T72A probably benign Het
Slc4a2 G A 5: 24,644,846 (GRCm39) W1040* probably null Het
Slc5a1 T C 5: 33,312,018 (GRCm39) V470A possibly damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Trpm2 T C 10: 77,770,902 (GRCm39) D678G probably benign Het
Tut7 T C 13: 59,969,863 (GRCm39) K11E probably damaging Het
Ube3a T C 7: 58,925,861 (GRCm39) I234T probably benign Het
Vmn2r57 T C 7: 41,076,064 (GRCm39) K483E probably damaging Het
Wnk1 T A 6: 119,903,387 (GRCm39) S2111C probably damaging 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
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
R4997:Coch UTSW 12 51,649,964 (GRCm39) splice site probably null
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'- AGGTCTTTCTAAGAATGGCACCC -3'
(R):5'- GGTAAGCTGTCATCATTGAAGATATCC -3'

Sequencing Primer
(F):5'- TCACCCAGGTGGAAGTTCC -3'
(R):5'- TTGAACGAGACCCACGT -3'
Posted On 2015-07-07