Mutagenetix > Incidental Mutations

Incidental Mutation 'R6481:Coch'

517125

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51593341-51605771 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51598173 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 170 (F170S)

Ref Sequence

ENSEMBL: ENSMUSP00000128127 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000085412
AA Change: F170S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953
AA Change: F170S

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 damaging
Transcript: ENSMUST00000164782
AA Change: F170S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953
AA Change: F170S

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

100% (82/82)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931428L18Rik	T	C	1: 31,222,507		probably benign	Het
5430419D17Rik	A	T	7: 131,256,801	D1066V	probably benign	Het
6430573F11Rik	T	C	8: 36,498,483		probably null	Het
Abca9	G	A	11: 110,165,962	Q11*	probably null	Het
Abcc9	A	T	6: 142,604,895	M1273K	probably damaging	Het
Abi2	A	G	1: 60,438,939		probably null	Het
Acsm5	A	G	7: 119,534,881	E295G	probably benign	Het
Anapc5	T	C	5: 122,800,544	D389G	probably benign	Het
Ano3	A	T	2: 110,795,027	D159E	probably benign	Het
Arhgap26	T	A	18: 39,150,057	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580		probably null	Het
Astn1	T	C	1: 158,612,462	S867P	probably benign	Het
Atad3a	A	T	4: 155,753,641		probably null	Het
Cadm1	A	T	9: 47,788,109	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,802,395	I933T	possibly damaging	Het
Celsr3	C	G	9: 108,837,084	N1937K	possibly damaging	Het
Cic	A	C	7: 25,288,281	T558P	possibly damaging	Het
Cntln	A	G	4: 85,067,510	M933V	probably benign	Het
Col1a2	A	G	6: 4,538,680	Y1200C	unknown	Het
Col26a1	T	C	5: 136,744,178	M383V	probably benign	Het
Col4a4	A	T	1: 82,453,778	M1595K	unknown	Het
Crh	T	C	3: 19,694,337	E47G	probably benign	Het
Cyhr1	T	C	15: 76,658,708		probably null	Het
D930020B18Rik	T	C	10: 121,661,148		probably null	Het
Def6	G	A	17: 28,226,163	R482H	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,331,190	L241P	probably damaging	Het
E2f7	A	G	10: 110,774,681	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,577,111	I53V	probably benign	Het
Fbxo4	A	G	15: 3,965,734	L376P	probably damaging	Het
Fgfr2	A	G	7: 130,185,278	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,645,414	P52Q	possibly damaging	Het
Fry	G	A	5: 150,386,014	R641H	probably damaging	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,794,349	K52R	probably damaging	Het
Gm8298	T	C	3: 59,861,057	Y3H	probably benign	Het
Gtf2a1l	A	G	17: 88,711,625	D379G	probably benign	Het
Gys1	A	T	7: 45,442,969	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,216,614		probably benign	Het
Ifitm1	G	A	7: 140,969,606	V101I	probably benign	Het
Kalrn	T	A	16: 34,360,984	T95S	probably damaging	Het
Leng8	A	G	7: 4,145,413	Y728C	probably damaging	Het
Lonp2	G	T	8: 86,634,908	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,378,980	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,364,071	S411T	probably damaging	Het
Mrps33	C	A	6: 39,805,370		probably null	Het
Muc16	C	T	9: 18,550,677		probably null	Het
Muc5ac	A	G	7: 141,809,071		probably benign	Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Olfr1141	T	C	2: 87,753,468	N175S	probably damaging	Het
Olfr1204	A	T	2: 88,852,519	T190S	probably damaging	Het
Olfr122	T	G	17: 37,772,303	F217V	probably damaging	Het
Olfr1340	A	G	4: 118,726,733	Y162C	probably damaging	Het
Olfr50	T	A	2: 36,793,777	D180E	possibly damaging	Het
Olfr545	A	T	7: 102,494,139	V212D	probably damaging	Het
Pag1	T	A	3: 9,699,336	E252D	possibly damaging	Het
Plcd3	T	C	11: 103,077,767	Y366C	probably damaging	Het
Psg17	A	C	7: 18,814,450	S465R	probably damaging	Het
Ptpn9	G	T	9: 57,023,040	V50L	probably damaging	Het
Rab17	T	G	1: 90,958,961	S190R	probably benign	Het
Samd11	A	G	4: 156,249,078		probably null	Het
Slc17a5	A	G	9: 78,538,271	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,883,583	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,388,918	Q896K	probably benign	Het
Slc9a5	A	T	8: 105,358,393	K509*	probably null	Het
Slf2	A	C	19: 44,973,164	M1041L	probably benign	Het
Smn1	A	G	13: 100,128,500		probably null	Het
Snx9	T	C	17: 5,922,209		probably null	Het
Soat2	T	A	15: 102,162,055	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,930	N293K	probably benign	Het
Tatdn1	T	C	15: 58,923,911	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,492,156	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,101	N431K	possibly damaging	Het
Trim39	T	C	17: 36,268,662	T31A	probably benign	Het
Tshz3	A	G	7: 36,752,339		probably null	Het
Ttll11	G	A	2: 35,902,754	T359M	probably damaging	Het
Ttn	T	G	2: 76,741,499	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,431,751	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,593,104	P265S	probably benign	Het
Wdr90	C	T	17: 25,845,911	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,853,274	Y351C	probably damaging	Het
Xpo6	A	C	7: 126,112,885	N3K	probably damaging	Het
Zfp445	A	G	9: 122,857,566	S165P	probably benign	Het
Zfp953	A	T	13: 67,347,937	Y13*	probably null	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
R3946: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
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

Predicted Primers

PCR Primer
(F):5'- TGTTGCCAAGAGCTTCCTTC -3'
(R):5'- GTTTGGATTACAGCTTGTCCAG -3'

Sequencing Primer
(F):5'- GCCAAGAGCTTCCTTCTTTTCAGG -3'
(R):5'- GGATTACAGCTTGTCCAGATTTAAG -3'

Posted On

2018-05-21