Mutagenetix > Incidental Mutation

Incidental Mutation 'R7242:Coch'

563304

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

045349-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7242 (G1)

Quality Score

223.009

Status

Validated

Chromosome

Chromosomal Location

51640156-51652558 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

G to T at 51640344 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 benign
Transcript: ENSMUST00000085412

SMART Domains

Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953

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

SMART Domains

Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (73/73)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J03Rik	A	T	5: 146,121,677 (GRCm39)	I74N	probably damaging	Het
Abca6	A	T	11: 110,132,479 (GRCm39)	V272D	possibly damaging	Het
Acot11	A	T	4: 106,619,690 (GRCm39)	S163R	probably benign	Het
Adcy5	T	C	16: 34,977,205 (GRCm39)	L246P	probably damaging	Het
Adgra1	A	T	7: 139,427,573 (GRCm39)		probably null	Het
Adgra2	A	G	8: 27,612,055 (GRCm39)	T1335A	probably damaging	Het
Aoc1l2	A	T	6: 48,908,062 (GRCm39)	Y354F	probably damaging	Het
Armt1	T	C	10: 4,403,475 (GRCm39)	S187P	probably damaging	Het
Azin1	T	C	15: 38,501,749 (GRCm39)	M1V	probably null	Het
B430305J03Rik	C	T	3: 61,271,256 (GRCm39)	C163Y	unknown	Het
Cables1	T	C	18: 11,973,064 (GRCm39)	S68P	possibly damaging	Het
Cacna1d	A	G	14: 29,900,663 (GRCm39)	F341L	probably benign	Het
Ccdc90b	T	A	7: 92,221,776 (GRCm39)	H118Q	probably damaging	Het
Ccn5	T	C	2: 163,670,772 (GRCm39)	F93S	probably benign	Het
Celf1	T	A	2: 90,833,602 (GRCm39)	C119*	probably null	Het
Cfap57	C	T	4: 118,450,293 (GRCm39)	V610M	possibly damaging	Het
Chrm4	T	A	2: 91,757,595 (GRCm39)	M1K	probably null	Het
Chrnd	C	T	1: 87,125,201 (GRCm39)	T418I	probably damaging	Het
Cop1	A	G	1: 159,112,118 (GRCm39)	T345A	probably benign	Het
Cops6	A	G	5: 138,161,842 (GRCm39)	T96A	probably benign	Het
Corin	T	C	5: 72,462,398 (GRCm39)	I945V	probably benign	Het
Cyp2c67	G	T	19: 39,605,783 (GRCm39)	T371N	probably benign	Het
Dap	T	A	15: 31,273,454 (GRCm39)	*103R	probably null	Het
Defb35	T	A	8: 22,430,773 (GRCm39)	V49E	unknown	Het
Dmtf1	T	A	5: 9,199,016 (GRCm39)	D39V	possibly damaging	Het
Dmtn	T	C	14: 70,855,460 (GRCm39)	T10A	probably damaging	Het
Dnajc1	C	T	2: 18,298,783 (GRCm39)	E264K	probably benign	Het
Dtx3l	A	T	16: 35,753,771 (GRCm39)	N278K	possibly damaging	Het
Fam161a	T	A	11: 22,970,037 (GRCm39)	S72T	possibly damaging	Het
Fnbp4	T	A	2: 90,576,140 (GRCm39)	S114T	unknown	Het
Focad	T	G	4: 88,228,143 (GRCm39)	I784S	unknown	Het
Fzd8	A	T	18: 9,214,171 (GRCm39)	T418S	probably damaging	Het
Gclc	A	G	9: 77,692,653 (GRCm39)	Y264C	probably benign	Het
Ggn	G	A	7: 28,872,459 (GRCm39)	C649Y	possibly damaging	Het
Gys1	A	G	7: 45,089,092 (GRCm39)		probably null	Het
Hsd3b1	T	C	3: 98,760,526 (GRCm39)	Y155C	probably damaging	Het
Htatip2	A	G	7: 49,422,354 (GRCm39)	K191E	probably benign	Het
Ik	A	T	18: 36,881,275 (GRCm39)	S79C	probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Kpna2rt	G	A	17: 90,217,563 (GRCm39)	T61I	probably benign	Het
Mast4	A	G	13: 102,874,986 (GRCm39)	S1461P	probably damaging	Het
Melk	T	A	4: 44,360,885 (GRCm39)	V555E	probably damaging	Het
Met	G	A	6: 17,491,316 (GRCm39)	C26Y	probably damaging	Het
Mfsd6	A	T	1: 52,748,633 (GRCm39)	F77L	probably damaging	Het
Mib1	T	A	18: 10,741,011 (GRCm39)	D86E	probably damaging	Het
Myl10	G	C	5: 136,726,825 (GRCm39)	V70L	probably benign	Het
Or12e8	G	A	2: 87,188,426 (GRCm39)	V213I	probably benign	Het
Or56b1b	T	G	7: 108,164,919 (GRCm39)	S28R	probably benign	Het
Or7a36	A	T	10: 78,820,331 (GRCm39)	K236*	probably null	Het
Or8g21	A	G	9: 38,906,437 (GRCm39)	I98T	probably benign	Het
Patj	A	T	4: 98,480,170 (GRCm39)	I1296L	probably benign	Het
Pcdh1	C	T	18: 38,336,270 (GRCm39)	V122M	probably benign	Het
Pcdhac2	A	T	18: 37,277,946 (GRCm39)	I309F	possibly damaging	Het
Phf8-ps	A	G	17: 33,286,101 (GRCm39)	Y234H	probably damaging	Het
Phtf1	A	G	3: 103,906,012 (GRCm39)	S565G	probably damaging	Het
Plekha2	A	C	8: 25,578,411 (GRCm39)	F30V	probably damaging	Het
Ptbp1	A	G	10: 79,692,222 (GRCm39)	M20V	unknown	Het
Pth2r	A	G	1: 65,427,779 (GRCm39)	D484G	probably benign	Het
Rapgef2	G	A	3: 78,995,210 (GRCm39)	Q665*	probably null	Het
Scamp1	G	A	13: 94,369,648 (GRCm39)	T59I	probably benign	Het
Sema4a	T	A	3: 88,357,416 (GRCm39)	D230V	probably damaging	Het
Snw1	C	T	12: 87,515,415 (GRCm39)	G45R	possibly damaging	Het
Sox30	T	A	11: 45,875,347 (GRCm39)		probably null	Het
Sspo	T	A	6: 48,450,886 (GRCm39)	I2665K	probably benign	Het
Stx5a	T	A	19: 8,732,641 (GRCm39)	W437R	unknown	Het
Tln1	A	G	4: 43,542,602 (GRCm39)	V1402A	probably benign	Het
Tpm1	A	G	9: 66,935,383 (GRCm39)	L244P	probably benign	Het
Try5	T	A	6: 41,290,388 (GRCm39)	E32V	probably benign	Het
Ttn	T	C	2: 76,552,073 (GRCm39)	N31188S	probably benign	Het
Tulp1	T	C	17: 28,582,379 (GRCm39)		probably null	Het
Usp13	T	G	3: 32,919,892 (GRCm39)		probably null	Het
Vax2	A	G	6: 83,688,298 (GRCm39)	E7G	possibly damaging	Het
Vmn2r45	A	T	7: 8,488,612 (GRCm39)	Y139*	probably null	Het
Zfp423	T	C	8: 88,631,155 (GRCm39)	D21G	probably benign	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
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
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'- TCTTTATAGCGGCCACGGAG -3'
(R):5'- ACAACGGAGTAACTCGGGAC -3'

Sequencing Primer
(F):5'- GCACTCGGGTGTAGCCG -3'
(R):5'- ATCCCTACGCAGGTCCCTAG -3'

Posted On

2019-06-26