Incidental Mutation 'R0732:Coch'
ID 67681
Institutional Source Beutler Lab
Gene Symbol Coch
Ensembl Gene ENSMUSG00000020953
Gene Name cochlin
Synonyms Coch-5B2, D12H14S564E
MMRRC Submission 038913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0732 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 51640156-51652558 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51642155 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 42 (D42E)
Ref Sequence ENSEMBL: ENSMUSP00000128127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085412] [ENSMUST00000164782]
AlphaFold Q62507
Predicted Effect probably damaging
Transcript: ENSMUST00000085412
AA Change: D42E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953
AA Change: D42E

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 damaging
Transcript: ENSMUST00000164782
AA Change: D42E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953
AA Change: D42E

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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 94.7%
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T C 6: 128,523,411 (GRCm39) Y1175C probably damaging Het
Acsm3 T C 7: 119,373,057 (GRCm39) S187P probably benign Het
Adam28 T C 14: 68,874,796 (GRCm39) I294V probably benign Het
Adgrv1 T C 13: 81,651,123 (GRCm39) I3057M possibly damaging Het
Aff4 T C 11: 53,266,423 (GRCm39) V304A probably benign Het
Akr1b10 T C 6: 34,367,044 (GRCm39) Y108H probably benign Het
Ankib1 T C 5: 3,763,163 (GRCm39) N522S possibly damaging Het
Ano1 T A 7: 144,173,225 (GRCm39) probably null Het
Antxr2 G T 5: 98,108,567 (GRCm39) probably null Het
Arc G A 15: 74,543,044 (GRCm39) T393I probably damaging Het
Arhgef33 A G 17: 80,688,783 (GRCm39) D5G possibly damaging Het
Atf2 A T 2: 73,675,844 (GRCm39) M169K possibly damaging Het
BC005624 T A 2: 30,863,949 (GRCm39) T215S possibly damaging Het
Bmp8b G A 4: 122,999,199 (GRCm39) G19D unknown Het
Cacna1d T C 14: 29,764,877 (GRCm39) N1987S probably damaging Het
Camta1 T A 4: 151,670,941 (GRCm39) probably null Het
Catsperg2 C T 7: 29,400,121 (GRCm39) G316D probably damaging Het
Cbs G T 17: 31,844,003 (GRCm39) N209K probably benign Het
Ccdc122 T A 14: 77,329,199 (GRCm39) M84K probably damaging Het
Cd5 C T 19: 10,700,649 (GRCm39) C285Y probably damaging Het
Chpf2 T C 5: 24,795,419 (GRCm39) M1T probably null Het
Crip2 C T 12: 113,104,178 (GRCm39) probably benign Het
Crlf2 G C 5: 109,705,004 (GRCm39) P67R probably damaging Het
Cxcl16 G T 11: 70,346,234 (GRCm39) P233H probably damaging Het
Cyfip1 T C 7: 55,536,529 (GRCm39) I319T probably damaging Het
Ddhd2 T C 8: 26,231,348 (GRCm39) Q364R probably damaging Het
Ephx2 A G 14: 66,324,412 (GRCm39) probably null Het
Exoc6b C A 6: 84,832,504 (GRCm39) V397L probably damaging Het
Fam83b T A 9: 76,400,210 (GRCm39) K298* probably null Het
Fbxo8 T A 8: 57,044,564 (GRCm39) I289N probably damaging Het
Fkbp9 T A 6: 56,855,089 (GRCm39) M536K probably benign Het
Flot1 C T 17: 36,136,416 (GRCm39) R190W possibly damaging Het
Gbp2b T A 3: 142,312,739 (GRCm39) V374E probably benign Het
Gna15 T A 10: 81,348,390 (GRCm39) S114C probably damaging Het
Gstt4 T A 10: 75,653,155 (GRCm39) T136S probably benign Het
Hcn3 C T 3: 89,056,093 (GRCm39) V524M probably damaging Het
Kctd16 A T 18: 40,391,616 (GRCm39) D68V probably damaging Het
Kics2 T C 10: 121,586,852 (GRCm39) V253A possibly damaging Het
Krt90 G T 15: 101,468,860 (GRCm39) F227L possibly damaging Het
Lrrc37 T C 11: 103,510,664 (GRCm39) T435A unknown Het
Maip1 A G 1: 57,450,994 (GRCm39) Y212C probably damaging Het
Mamdc2 C T 19: 23,356,233 (GRCm39) D72N probably damaging Het
Marveld3 A T 8: 110,675,115 (GRCm39) Y234N probably damaging Het
Mas1 A G 17: 13,060,634 (GRCm39) I263T probably benign Het
Matk T A 10: 81,094,140 (GRCm39) probably null Het
Mrgpre T A 7: 143,335,303 (GRCm39) I67F possibly damaging Het
Mthfd1 T A 12: 76,340,948 (GRCm39) I449N probably damaging Het
Nacc1 C T 8: 85,402,830 (GRCm39) R321Q probably damaging Het
Neb T C 2: 52,148,693 (GRCm39) D2618G probably damaging Het
Neb T C 2: 52,181,280 (GRCm39) Y1109C probably damaging Het
Nell1 T G 7: 50,506,135 (GRCm39) W781G probably damaging Het
Or4g16 T A 2: 111,137,325 (GRCm39) Y258* probably null Het
Or4x6 A G 2: 89,949,666 (GRCm39) V92A probably benign Het
Or52d1 T C 7: 103,755,501 (GRCm39) L5P probably damaging Het
Or55b4 T C 7: 102,133,650 (GRCm39) I226V probably benign Het
Or5p72 C A 7: 108,021,784 (GRCm39) A2D probably benign Het
Or6k4 A T 1: 173,964,981 (GRCm39) I224F possibly damaging Het
Or8s8 T C 15: 98,354,959 (GRCm39) L256S possibly damaging Het
Or8u10 A C 2: 85,915,928 (GRCm39) S64R probably benign Het
Pcdh7 C A 5: 57,878,657 (GRCm39) D737E probably damaging Het
Pdss1 T G 2: 22,791,324 (GRCm39) M55R probably benign Het
Pex6 C T 17: 47,035,626 (GRCm39) R889W probably damaging Het
Pigl T A 11: 62,349,307 (GRCm39) C8S possibly damaging Het
Plekha7 A T 7: 115,744,472 (GRCm39) M585K probably damaging Het
Ppp1r1a C T 15: 103,441,514 (GRCm39) M66I possibly damaging Het
Ptcd3 A T 6: 71,858,155 (GRCm39) probably benign Het
Rhov A T 2: 119,101,495 (GRCm39) V37E probably damaging Het
Rnf213 A T 11: 119,331,894 (GRCm39) M2368L probably damaging Het
Skida1 T C 2: 18,050,968 (GRCm39) probably benign Het
Slc25a28 T C 19: 43,655,392 (GRCm39) D161G probably benign Het
Smc6 T C 12: 11,340,818 (GRCm39) V490A probably damaging Het
Sohlh2 T A 3: 55,097,794 (GRCm39) probably null Het
Stk31 A G 6: 49,394,429 (GRCm39) T264A probably benign Het
Syngap1 T A 17: 27,173,962 (GRCm39) S190R possibly damaging Het
Tacr1 T A 6: 82,529,882 (GRCm39) V200E probably damaging Het
Tbrg4 C T 11: 6,570,812 (GRCm39) R220H probably benign Het
Tcf20 A G 15: 82,736,504 (GRCm39) L1649P probably benign Het
Tcirg1 A T 19: 3,947,866 (GRCm39) L523Q possibly damaging Het
Tinag T A 9: 76,908,936 (GRCm39) K335M possibly damaging Het
Tkt T G 14: 30,293,097 (GRCm39) probably null Het
Tnpo1 C T 13: 99,000,320 (GRCm39) R349H probably damaging Het
Trim26 T A 17: 37,163,510 (GRCm39) S230R possibly damaging Het
Trim8 T A 19: 46,503,178 (GRCm39) probably null Het
Trp53bp1 T C 2: 121,078,745 (GRCm39) R326G probably null Het
Ugt2a2 A T 5: 87,608,498 (GRCm39) I613N probably damaging Het
Vmn1r32 T C 6: 66,530,690 (GRCm39) I29V probably benign Het
Wnt5b C T 6: 119,423,543 (GRCm39) W27* probably null 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
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
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'- GTCTATGAAGACACTCCACAAAGGCTC -3'
(R):5'- TGCACATTAGGTCATGCAGGAATACTC -3'

Sequencing Primer
(F):5'- AATTGGAAACCCCTTTGGGC -3'
(R):5'- GTCATGCAGGAATACTCACGAAAATC -3'
Posted On 2013-09-03