Mutagenetix > Incidental Mutation

Incidental Mutation 'R7938:Coch'

656352

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

045984-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7938 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51640156-51652558 bp(+) (GRCm39)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 51643366 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

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 null
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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (63/64)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bcam	T	G	7: 19,490,738 (GRCm39)	E586D	probably benign	Het
Bmp7	A	C	2: 172,721,283 (GRCm39)	I264S	probably benign	Het
Casz1	G	A	4: 149,028,943 (GRCm39)	M1129I	probably benign	Het
Ccdc59	T	A	10: 105,677,455 (GRCm39)	N31K	probably benign	Het
Cfap61	A	G	2: 145,887,376 (GRCm39)	Y607C	probably benign	Het
Cnga1	T	C	5: 72,761,597 (GRCm39)	E639G	probably benign	Het
Col6a6	A	C	9: 105,657,883 (GRCm39)	Y776*	probably null	Het
Cyp1a1	T	G	9: 57,609,073 (GRCm39)	L318R	probably damaging	Het
Cyp3a16	T	A	5: 145,389,666 (GRCm39)	Y233F	probably benign	Het
Dgkz	G	T	2: 91,795,817 (GRCm39)	R42S	probably damaging	Het
Dner	A	G	1: 84,673,218 (GRCm39)	Y78H	possibly damaging	Het
Fat2	T	C	11: 55,163,922 (GRCm39)	N3111S	probably damaging	Het
Frmpd2	T	C	14: 33,260,246 (GRCm39)	S768P	probably benign	Het
Gm45861	T	A	8: 28,071,990 (GRCm39)	N1269K	unknown	Het
Gpr12	T	A	5: 146,520,094 (GRCm39)	Y276F	possibly damaging	Het
Hace1	C	T	10: 45,562,792 (GRCm39)	P769L	probably benign	Het
Hapln1	G	A	13: 89,753,347 (GRCm39)	R171H	probably damaging	Het
Hlx	T	G	1: 184,464,125 (GRCm39)	T72P	probably benign	Het
Iqcm	G	T	8: 76,304,596 (GRCm39)	C119F	probably benign	Het
Katna1	G	T	10: 7,637,075 (GRCm39)	A409S	probably benign	Het
Kcnip2	A	T	19: 45,782,729 (GRCm39)	I204N	probably damaging	Het
Kel	G	T	6: 41,675,310 (GRCm39)	Q314K	probably benign	Het
Klf5	T	C	14: 99,536,444 (GRCm39)	V5A	probably damaging	Het
Lax1	A	T	1: 133,607,896 (GRCm39)	C282S	probably benign	Het
Lyar	A	G	5: 38,388,295 (GRCm39)	T274A	probably benign	Het
Mboat1	A	G	13: 30,415,959 (GRCm39)	H306R	possibly damaging	Het
Morn5	A	T	2: 35,947,082 (GRCm39)	Y120F	probably benign	Het
Mrgprx2	T	C	7: 48,132,240 (GRCm39)	T193A	probably benign	Het
Myh10	T	A	11: 68,583,327 (GRCm39)	W8R	unknown	Het
Nfasc	A	G	1: 132,533,269 (GRCm39)	V644A	probably damaging	Het
Nup153	G	T	13: 46,842,855 (GRCm39)		probably null	Het
Nup50l	T	C	6: 96,141,866 (GRCm39)	K393E	possibly damaging	Het
Or1o4	T	A	17: 37,590,991 (GRCm39)	M107L	probably benign	Het
Or4x6	A	T	2: 89,949,173 (GRCm39)	Y256*	probably null	Het
Or5h19	A	T	16: 58,856,325 (GRCm39)	Y258*	probably null	Het
Orc4	A	T	2: 48,800,203 (GRCm39)	V315E	possibly damaging	Het
Pcsk5	T	A	19: 17,443,549 (GRCm39)		probably null	Het
Pif1	A	G	9: 65,502,073 (GRCm39)	D635G	probably benign	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ppfia2	A	G	10: 106,310,648 (GRCm39)	T52A	probably damaging	Het
Ppp1r36	A	T	12: 76,485,180 (GRCm39)	D301V	probably damaging	Het
Prss46	A	G	9: 110,680,500 (GRCm39)	N215S	probably benign	Het
Qser1	A	C	2: 104,619,312 (GRCm39)	V410G	probably damaging	Het
Reln	A	C	5: 22,155,870 (GRCm39)	N2207K	probably damaging	Het
Rimkla	A	G	4: 119,327,810 (GRCm39)	V180A	probably benign	Het
Rpa1	CA	C	11: 75,198,050 (GRCm39)		probably null	Het
Rsph3a	G	T	17: 8,165,050 (GRCm39)	E137*	probably null	Het
Spata31f1a	A	G	4: 42,850,765 (GRCm39)	S464P	possibly damaging	Het
Sqle	C	A	15: 59,196,315 (GRCm39)	H369Q	probably damaging	Het
Srebf2	T	A	15: 82,057,016 (GRCm39)	D250E	probably damaging	Het
Svs3b	A	T	2: 164,097,567 (GRCm39)	C251*	probably null	Het
Tdrd9	A	T	12: 111,997,649 (GRCm39)	N713Y	possibly damaging	Het
Terf2ip	T	C	8: 112,738,717 (GRCm39)	S202P	possibly damaging	Het
Trank1	A	G	9: 111,194,096 (GRCm39)	T707A	probably benign	Het
Trav8-1	T	G	14: 53,707,688 (GRCm39)	D109E	possibly damaging	Het
Trem2	T	A	17: 48,658,777 (GRCm39)	S181T	probably benign	Het
Trim37	A	G	11: 87,037,863 (GRCm39)	N199S	probably benign	Het
Tshz3	T	C	7: 36,468,583 (GRCm39)	F191L	probably damaging	Het
Ubxn8	A	G	8: 34,111,712 (GRCm39)	M227T	probably damaging	Het
Uggt2	T	A	14: 119,296,519 (GRCm39)	I448F	possibly damaging	Het
Usp47	T	A	7: 111,687,132 (GRCm39)	L697M	probably damaging	Het
Vmn2r52	T	C	7: 9,893,300 (GRCm39)	D613G	probably benign	Het
Wdr81	T	C	11: 75,338,828 (GRCm39)	T1444A	probably benign	Het
Zfp423	T	C	8: 88,622,304 (GRCm39)	Y11C	unknown	Het
Zw10	T	A	9: 48,982,933 (GRCm39)	D521E	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
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
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'- CAGCTGTTTTCTTGACCAATGTAAG -3'
(R):5'- GGCTTCCACCGTGTAAAGTG -3'

Sequencing Primer
(F):5'- AGCAACAGATGGCTATGTCTATTGG -3'
(R):5'- CACCGTGTAAAGTGGGATTGTTAAC -3'

Posted On

2020-10-28