Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Coch'

307719

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

040827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3946 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51593341-51605771 bp(+) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

A to G at 51601812 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128127 (fasta)

Gene Model

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

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

Meta Mutation Damage Score

0.9481

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,309,098	I104V	probably damaging	Het
Abi2	A	G	1: 60,453,754	Q328R	probably damaging	Het
Agr3	C	A	12: 35,947,513		probably benign	Het
Brca2	T	A	5: 150,536,704	S481R	probably damaging	Het
Cabin1	T	G	10: 75,745,259	Q411P	probably damaging	Het
Calr3	A	G	8: 72,443,620	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,796,766	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,348,716	T442A	probably damaging	Het
Chn2	T	C	6: 54,269,426		probably benign	Het
Cic	C	A	7: 25,272,346	R501S	possibly damaging	Het
Defa25	G	A	8: 21,084,490	V17I	probably null	Het
Dglucy	T	C	12: 100,838,700		probably null	Het
Dtx1	T	G	5: 120,681,286	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,969,977	L171P	probably benign	Het
Fam135a	A	G	1: 24,030,394	S465P	probably damaging	Het
Gm14025	A	G	2: 129,039,601	L135P	probably damaging	Het
Gm14412	A	T	2: 177,314,685	C472*	probably null	Het
Gm7104	T	C	12: 88,286,042		noncoding transcript	Het
Got2	A	G	8: 95,888,230	S26P	probably benign	Het
H2-M11	A	G	17: 36,549,231	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,382,394	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,675,427	R114L	probably damaging	Het
Ilkap	A	C	1: 91,387,250	D124E	probably damaging	Het
Med6	T	C	12: 81,581,851	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,475,041	L719*	probably null	Het
Mmp23	T	C	4: 155,652,023	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,520,760	M32T	possibly damaging	Het
Ncstn	T	C	1: 172,067,494	E614G	probably benign	Het
Nr2c2	C	T	6: 92,163,138	R464W	probably damaging	Het
Olfr1309	G	A	2: 111,983,297	T259M	possibly damaging	Het
Otub2	T	A	12: 103,392,826	L58*	probably null	Het
Pcdhga12	G	A	18: 37,767,629	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,737,844	V242D	probably damaging	Het
Pex1	C	T	5: 3,626,084	L891F	probably damaging	Het
Pgm1	C	T	5: 64,112,061	T497I	probably benign	Het
Pikfyve	T	C	1: 65,196,681	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,857,392	K79T	probably benign	Het
Pin1	C	T	9: 20,655,364	R21W	probably damaging	Het
Ptprq	A	G	10: 107,686,392		probably benign	Het
Rad17	G	A	13: 100,622,863	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,718,868	T249A	probably benign	Het
Rtkn	A	T	6: 83,135,976	I10F	probably benign	Het
Scube2	T	A	7: 109,857,590	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,581,973	H514R	probably benign	Het
Serbp1	T	A	6: 67,272,220	D223E	probably benign	Het
Slc14a1	C	A	18: 78,111,392	V260L	probably benign	Het
Slc22a23	A	G	13: 34,183,126	I633T	probably damaging	Het
Stk19	A	T	17: 34,824,747		probably benign	Het
Svs2	T	C	2: 164,237,127	M287V	probably benign	Het
Syne3	T	A	12: 104,958,066	Q358L	probably damaging	Het
Synj1	A	G	16: 91,010,096	F58L	possibly damaging	Het
Tg	T	C	15: 66,674,023	V198A	probably damaging	Het
Tle4	A	T	19: 14,597,388	Y9N	probably damaging	Het
Tmem57	A	G	4: 134,804,481	Y626H	probably damaging	Het
Tmx3	G	A	18: 90,524,335	A186T	possibly damaging	Het
Traf3	G	A	12: 111,255,245	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,581,518	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,228,626	H918L	probably damaging	Het
Ush2a	T	G	1: 188,728,504	V2654G	probably benign	Het
Vmn2r25	A	G	6: 123,840,098	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,892,189	D1330G	probably damaging	Het

Other mutations in Coch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01514:Coch	APN	12	51603353	missense	probably damaging	1.00
IGL01803:Coch	APN	12	51603299	missense	probably benign	0.15
IGL02613:Coch	APN	12	51595349	missense	possibly damaging	0.76
IGL02697:Coch	APN	12	51597038	missense	probably benign	0.00
IGL03351:Coch	APN	12	51603206	missense	probably benign	0.05
R0732:Coch	UTSW	12	51595372	missense	probably damaging	1.00
R1485:Coch	UTSW	12	51598289	missense	probably damaging	1.00
R1757:Coch	UTSW	12	51602848	missense	probably damaging	1.00
R2073:Coch	UTSW	12	51602689	missense	probably benign	0.00
R2231:Coch	UTSW	12	51602865	missense	probably benign
R2440:Coch	UTSW	12	51596562	missense	probably damaging	0.99
R3104:Coch	UTSW	12	51603421	missense	probably benign
R3623:Coch	UTSW	12	51602826	missense	probably benign	0.06
R3624:Coch	UTSW	12	51602826	missense	probably benign	0.06
R3932:Coch	UTSW	12	51603338	missense	probably damaging	1.00
R3933:Coch	UTSW	12	51603338	missense	probably damaging	1.00
R3945:Coch	UTSW	12	51601812	critical splice acceptor site	probably null
R4423:Coch	UTSW	12	51598149	splice site	probably null
R4660:Coch	UTSW	12	51595485	missense	probably benign	0.21
R4732:Coch	UTSW	12	51605019	missense	probably benign	0.28
R4733:Coch	UTSW	12	51605019	missense	probably benign	0.28
R4844:Coch	UTSW	12	51602694	missense	probably damaging	0.98
R4997:Coch	UTSW	12	51603181	splice site	probably null
R5152:Coch	UTSW	12	51595442	missense	probably benign	0.00
R5173:Coch	UTSW	12	51596507	nonsense	probably null
R6134:Coch	UTSW	12	51602753	missense	probably damaging	1.00
R6481:Coch	UTSW	12	51598173	missense	probably damaging	1.00
R6497:Coch	UTSW	12	51602721	missense	probably benign	0.06
R6714:Coch	UTSW	12	51602737	missense	probably damaging	1.00
R6896:Coch	UTSW	12	51602869	missense	possibly damaging	0.62
R7242:Coch	UTSW	12	51593561	start gained	probably benign
R7463:Coch	UTSW	12	51593625	start codon destroyed	probably null	0.02
R7595:Coch	UTSW	12	51598233	missense	probably damaging	1.00
R7938:Coch	UTSW	12	51596583	splice site	probably null
R8047:Coch	UTSW	12	51603713	critical splice donor site	probably null
R8085:Coch	UTSW	12	51603248	missense	possibly damaging	0.64
R9052:Coch	UTSW	12	51593625	start codon destroyed	probably null	0.02
R9175:Coch	UTSW	12	51598277	missense	possibly damaging	0.96
R9533:Coch	UTSW	12	51603349	missense	possibly damaging	0.69
R9617:Coch	UTSW	12	51598251	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGAGTGGAAGCGATGTCCTAG -3'
(R):5'- GTGCTAGAACTGTCATGAATGTC -3'

Sequencing Primer
(F):5'- GAATCATGTGTGCCCCTGATGC -3'
(R):5'- TGTCATGAAGCATGCGGC -3'

Posted On

2015-04-17