Mutagenetix > Incidental Mutation

Incidental Mutation 'R6481:Coch'

517125

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

044613-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6481 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51640156-51652558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51644956 bp (GRCm39)

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]

AlphaFold

Q62507

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: 31,261,588 (GRCm39)		probably benign	Het
Aadacl2fm3	T	C	3: 59,768,478 (GRCm39)	Y3H	probably benign	Het
Abca9	G	A	11: 110,056,788 (GRCm39)	Q11*	probably null	Het
Abcc9	A	T	6: 142,550,621 (GRCm39)	M1273K	probably damaging	Het
Abi2	A	G	1: 60,478,098 (GRCm39)		probably null	Het
Acsm5	A	G	7: 119,134,104 (GRCm39)	E295G	probably benign	Het
Anapc5	T	C	5: 122,938,607 (GRCm39)	D389G	probably benign	Het
Ano3	A	T	2: 110,625,372 (GRCm39)	D159E	probably benign	Het
Arhgap26	T	A	18: 39,283,110 (GRCm39)	M349K	probably damaging	Het
Arhgef39	A	G	4: 43,498,580 (GRCm39)		probably null	Het
Astn1	T	C	1: 158,440,032 (GRCm39)	S867P	probably benign	Het
Atad3a	A	T	4: 155,838,098 (GRCm39)		probably null	Het
Cadm1	A	T	9: 47,699,407 (GRCm39)	D91V	probably damaging	Het
Cc2d2b	T	C	19: 40,790,839 (GRCm39)	I933T	possibly damaging	Het
Cdcp3	A	T	7: 130,858,530 (GRCm39)	D1066V	probably benign	Het
Celsr3	C	G	9: 108,714,283 (GRCm39)	N1937K	possibly damaging	Het
Cic	A	C	7: 24,987,706 (GRCm39)	T558P	possibly damaging	Het
Cntln	A	G	4: 84,985,747 (GRCm39)	M933V	probably benign	Het
Col1a2	A	G	6: 4,538,680 (GRCm39)	Y1200C	unknown	Het
Col26a1	T	C	5: 136,773,032 (GRCm39)	M383V	probably benign	Het
Col4a4	A	T	1: 82,431,499 (GRCm39)	M1595K	unknown	Het
Crh	T	C	3: 19,748,501 (GRCm39)	E47G	probably benign	Het
D930020B18Rik	T	C	10: 121,497,053 (GRCm39)		probably null	Het
Def6	G	A	17: 28,445,137 (GRCm39)	R482H	probably benign	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dpagt1	T	C	9: 44,242,487 (GRCm39)	L241P	probably damaging	Het
E2f7	A	G	10: 110,610,542 (GRCm39)	E389G	probably damaging	Het
Eif2b1	T	C	5: 124,715,174 (GRCm39)	I53V	probably benign	Het
Fbxo4	A	G	15: 3,995,216 (GRCm39)	L376P	probably damaging	Het
Fgfr2	A	G	7: 129,787,008 (GRCm39)	S352P	possibly damaging	Het
Fkbpl	C	A	17: 34,864,388 (GRCm39)	P52Q	possibly damaging	Het
Fry	G	A	5: 150,309,479 (GRCm39)	R641H	probably damaging	Het
Fsip2	A	G	2: 82,820,430 (GRCm39)	T5388A	possibly damaging	Het
Gm12728	A	G	4: 105,651,546 (GRCm39)	K52R	probably damaging	Het
Gtf2a1l	A	G	17: 89,019,053 (GRCm39)	D379G	probably benign	Het
Gys1	A	T	7: 45,092,393 (GRCm39)	Y332F	possibly damaging	Het
Hoxa7	T	A	6: 52,193,594 (GRCm39)		probably benign	Het
Ifitm1	G	A	7: 140,549,519 (GRCm39)	V101I	probably benign	Het
Kalrn	T	A	16: 34,181,354 (GRCm39)	T95S	probably damaging	Het
Leng8	A	G	7: 4,148,412 (GRCm39)	Y728C	probably damaging	Het
Lonp2	G	T	8: 87,361,536 (GRCm39)	D238Y	possibly damaging	Het
Ltn1	A	C	16: 87,175,868 (GRCm39)	S1757A	probably damaging	Het
Man2a2	A	T	7: 80,013,819 (GRCm39)	S411T	probably damaging	Het
Mrps33	C	A	6: 39,782,304 (GRCm39)		probably null	Het
Muc16	C	T	9: 18,461,973 (GRCm39)		probably null	Het
Muc5ac	A	G	7: 141,362,808 (GRCm39)		probably benign	Het
Naip2	A	C	13: 100,298,549 (GRCm39)	S496A	probably benign	Het
Or10al6	T	G	17: 38,083,194 (GRCm39)	F217V	probably damaging	Het
Or13p8	A	G	4: 118,583,930 (GRCm39)	Y162C	probably damaging	Het
Or1j21	T	A	2: 36,683,789 (GRCm39)	D180E	possibly damaging	Het
Or4c106	A	T	2: 88,682,863 (GRCm39)	T190S	probably damaging	Het
Or55b10	A	T	7: 102,143,346 (GRCm39)	V212D	probably damaging	Het
Or5w17	T	C	2: 87,583,812 (GRCm39)	N175S	probably damaging	Het
Pag1	T	A	3: 9,764,396 (GRCm39)	E252D	possibly damaging	Het
Plcd3	T	C	11: 102,968,593 (GRCm39)	Y366C	probably damaging	Het
Psg17	A	C	7: 18,548,375 (GRCm39)	S465R	probably damaging	Het
Ptpn9	G	T	9: 56,930,324 (GRCm39)	V50L	probably damaging	Het
Rab17	T	G	1: 90,886,683 (GRCm39)	S190R	probably benign	Het
Samd11	A	G	4: 156,333,535 (GRCm39)		probably null	Het
Slc17a5	A	G	9: 78,445,553 (GRCm39)	F434S	possibly damaging	Het
Slc22a15	A	G	3: 101,790,899 (GRCm39)	I202T	possibly damaging	Het
Slc8a1	G	T	17: 81,696,347 (GRCm39)	Q896K	probably benign	Het
Slc9a5	A	T	8: 106,085,025 (GRCm39)	K509*	probably null	Het
Slf2	A	C	19: 44,961,603 (GRCm39)	M1041L	probably benign	Het
Smn1	A	G	13: 100,265,008 (GRCm39)		probably null	Het
Snx9	T	C	17: 5,972,484 (GRCm39)		probably null	Het
Soat2	T	A	15: 102,070,490 (GRCm39)	L431Q	probably damaging	Het
Spam1	T	A	6: 24,796,929 (GRCm39)	N293K	probably benign	Het
Tatdn1	T	C	15: 58,795,760 (GRCm39)	T66A	possibly damaging	Het
Tmprss11g	A	T	5: 86,640,015 (GRCm39)	S205T	probably benign	Het
Tnpo3	G	T	6: 29,571,100 (GRCm39)	N431K	possibly damaging	Het
Trim39	T	C	17: 36,579,554 (GRCm39)	T31A	probably benign	Het
Trmt9b	T	C	8: 36,965,637 (GRCm39)		probably null	Het
Tshz3	A	G	7: 36,451,764 (GRCm39)		probably null	Het
Ttll11	G	A	2: 35,792,766 (GRCm39)	T359M	probably damaging	Het
Ttn	T	G	2: 76,571,843 (GRCm39)	D26350A	probably damaging	Het
Ubr4	G	T	4: 139,159,062 (GRCm39)	V2472F	probably damaging	Het
Vsx2	C	T	12: 84,639,878 (GRCm39)	P265S	probably benign	Het
Wdr90	C	T	17: 26,064,885 (GRCm39)	G1708R	probably damaging	Het
Wnt11	A	G	7: 98,502,481 (GRCm39)	Y351C	probably damaging	Het
Xpo6	A	C	7: 125,712,057 (GRCm39)	N3K	probably damaging	Het
Zfp445	A	G	9: 122,686,631 (GRCm39)	S165P	probably benign	Het
Zfp953	A	T	13: 67,496,001 (GRCm39)	Y13*	probably null	Het
Zftraf1	T	C	15: 76,542,908 (GRCm39)		probably null	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
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'- TGTTGCCAAGAGCTTCCTTC -3'
(R):5'- GTTTGGATTACAGCTTGTCCAG -3'

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

Posted On

2018-05-21