Mutagenetix > Incidental Mutation

Incidental Mutation 'R4660:Coch'

352793

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4660 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51640156-51652558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51642268 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 80 (V80A)

Ref Sequence

ENSEMBL: ENSMUSP00000128127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085412] [ENSMUST00000164782]

AlphaFold

Q62507

Predicted Effect

probably benign
Transcript: ENSMUST00000085412
AA Change: V80A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953
AA Change: V80A

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000164782
AA Change: V80A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953
AA Change: V80A

Domain	Start	End	E-Value	Type
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

0.1712

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,062 (GRCm39)	T343A	probably damaging	Het
Angptl4	A	T	17: 33,996,249 (GRCm39)		probably benign	Het
Antxr2	A	T	5: 98,151,913 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,966,760 (GRCm39)	V145E	probably damaging	Het
Asns	G	T	6: 7,678,012 (GRCm39)	N355K	probably benign	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
B4galt7	T	A	13: 55,752,111 (GRCm39)	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777 (GRCm39)	P415S	probably benign	Het
Bbs9	G	A	9: 22,490,063 (GRCm39)	R278Q	probably benign	Het
Blzf1	C	T	1: 164,134,062 (GRCm39)		probably benign	Het
Btd	A	T	14: 31,389,760 (GRCm39)	T494S	probably benign	Het
Casp9	C	T	4: 141,540,934 (GRCm39)	T434I	probably benign	Het
Cavin2	T	C	1: 51,340,510 (GRCm39)	S396P	probably benign	Het
Ccnk	C	T	12: 108,168,575 (GRCm39)		probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip1	G	A	5: 123,717,437 (GRCm39)	T1284I	probably damaging	Het
Cttnbp2	A	G	6: 18,406,536 (GRCm39)	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,083,579 (GRCm39)	R457K	probably benign	Het
Dalrd3	T	C	9: 108,447,568 (GRCm39)	S129P	probably benign	Het
Ddx10	A	G	9: 53,147,698 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,328,696 (GRCm39)	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eif2s2	G	A	2: 154,730,189 (GRCm39)	T36I	probably benign	Het
Fam118b	A	T	9: 35,146,551 (GRCm39)	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,408,377 (GRCm39)	I250N	probably damaging	Het
Gm11544	C	T	11: 94,736,306 (GRCm39)		noncoding transcript	Het
Gm5709	C	T	3: 59,526,124 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,707,980 (GRCm39)	I107N	probably damaging	Het
Gpld1	T	C	13: 25,166,586 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,720,019 (GRCm39)	T768S	probably damaging	Het
H2-T23	T	G	17: 36,341,108 (GRCm39)	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,710 (GRCm39)		probably benign	Het
Iqgap3	T	G	3: 88,027,483 (GRCm39)	L702R	probably damaging	Het
Itga8	A	G	2: 12,270,069 (GRCm39)	V139A	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,594,772 (GRCm39)	I353V	probably benign	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Lingo4	T	A	3: 94,310,672 (GRCm39)	S537T	probably benign	Het
Lipo3	C	T	19: 33,598,360 (GRCm39)		probably benign	Het
Lrrc3	G	T	10: 77,729,866 (GRCm39)		probably benign	Het
Ltbp3	T	A	19: 5,798,814 (GRCm39)		probably null	Het
Lyg1	T	A	1: 37,985,942 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mfsd8	T	A	3: 40,776,372 (GRCm39)	I427F	probably benign	Het
Mga	T	A	2: 119,769,104 (GRCm39)		probably benign	Het
Miga1	A	G	3: 151,993,155 (GRCm39)	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536 (GRCm39)	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,336,538 (GRCm39)	V510A	probably benign	Het
Nccrp1	G	T	7: 28,245,760 (GRCm39)	P135T	probably damaging	Het
Neb	T	A	2: 52,145,600 (GRCm39)	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,710,011 (GRCm39)	I171N	probably damaging	Het
Odad2	A	G	18: 7,211,609 (GRCm39)	V755A	possibly damaging	Het
Or10q3	T	C	19: 11,848,412 (GRCm39)	H56R	possibly damaging	Het
Or12j5	A	T	7: 140,083,933 (GRCm39)	F146L	probably benign	Het
Or13a19	T	C	7: 139,903,325 (GRCm39)	F238L	possibly damaging	Het
Otop1	T	G	5: 38,457,368 (GRCm39)	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,322,932 (GRCm39)	V10A	possibly damaging	Het
Pgs1	T	C	11: 117,910,503 (GRCm39)	V538A	probably damaging	Het
Ppa2	A	T	3: 133,032,445 (GRCm39)	T97S	probably damaging	Het
Pramel22	T	A	4: 143,380,847 (GRCm39)	Y392F	probably benign	Het
Pramel26	A	G	4: 143,538,435 (GRCm39)	S179P	probably benign	Het
Prdm10	G	A	9: 31,238,624 (GRCm39)	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,508,464 (GRCm39)	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,158,796 (GRCm39)	R55C	probably damaging	Het
Ptpn9	A	T	9: 56,943,782 (GRCm39)	T105S	probably benign	Het
Rundc1	T	A	11: 101,324,830 (GRCm39)	V512E	possibly damaging	Het
Scrib	G	A	15: 75,937,185 (GRCm39)	S307L	probably damaging	Het
Sec23ip	A	G	7: 128,352,010 (GRCm39)	S26G	probably null	Het
Sec61a2	A	G	2: 5,878,504 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,877,511 (GRCm39)	V206A	probably damaging	Het
Sgk2	C	T	2: 162,839,763 (GRCm39)	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,738,540 (GRCm39)	T592I	probably damaging	Het
Slc5a11	T	C	7: 122,864,486 (GRCm39)	Y361H	probably damaging	Het
Smc6	T	C	12: 11,324,008 (GRCm39)	V51A	probably damaging	Het
Stab1	A	T	14: 30,876,872 (GRCm39)	N817K	possibly damaging	Het
Swt1	A	T	1: 151,283,348 (GRCm39)	D336E	probably benign	Het
Taf13	T	A	3: 108,480,293 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,175,845 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,156 (GRCm39)	S209P	probably benign	Het
Try10	A	G	6: 41,334,761 (GRCm39)	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,788,714 (GRCm39)	Y183*	probably null	Het
Ttc17	A	T	2: 94,194,774 (GRCm39)	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,535,016 (GRCm39)	P305L	probably damaging	Het
Tulp3	G	A	6: 128,300,017 (GRCm39)		probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505 (GRCm39)	V453A	probably damaging	Het
Vmn2r103	A	T	17: 20,032,077 (GRCm39)	N617I	probably damaging	Het
Xirp1	G	T	9: 119,846,058 (GRCm39)	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,676,451 (GRCm39)	V731G	probably benign	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp639	T	C	3: 32,574,679 (GRCm39)	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,355,820 (GRCm39)	H443R	probably damaging	Het

Other mutations in Coch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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'- TAGAATCCCTGCAATACTTCCC -3'
(R):5'- TGCACATTAGGTCATGCAGG -3'

Sequencing Primer
(F):5'- AGCCCAGGAGCTCTTACAG -3'
(R):5'- CATTAGGTCATGCAGGAATACTCACG -3'

Posted On

2015-10-08