Mutagenetix > Incidental Mutation

Incidental Mutation 'R2073:Coch'

227355

Institutional Source

Beutler Lab

Gene Symbol

Coch

Ensembl Gene

ENSMUSG00000020953

Gene Name

cochlin

Synonyms

Coch-5B2, D12H14S564E

MMRRC Submission

040078-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2073 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51640156-51652558 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51649472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 261 (D261V)

Ref Sequence

ENSEMBL: ENSMUSP00000128127 (fasta)

Gene Model

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

AlphaFold

Q62507

Predicted Effect

probably benign
Transcript: ENSMUST00000085412
AA Change: D261V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000082533
Gene: ENSMUSG00000020953
AA Change: D261V

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
AA Change: D261V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128127
Gene: ENSMUSG00000020953
AA Change: D261V

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: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	T	C	7: 130,959,242 (GRCm39)	R153G	probably benign	Het
5730596B20Rik	C	A	6: 52,155,962 (GRCm39)	Y9*	probably null	Het
Aco1	G	A	4: 40,183,605 (GRCm39)	G508S	probably damaging	Het
Acot3	A	G	12: 84,100,230 (GRCm39)	H2R	possibly damaging	Het
Adamts13	T	A	2: 26,896,326 (GRCm39)	C1240S	probably damaging	Het
Adra1b	T	C	11: 43,726,698 (GRCm39)	N73S	probably damaging	Het
Aebp2	G	A	6: 140,579,420 (GRCm39)	S219N	probably benign	Het
Akap8l	C	T	17: 32,551,457 (GRCm39)	R511H	probably damaging	Het
Ank	T	C	15: 27,565,108 (GRCm39)	S270P	probably benign	Het
Ankle1	G	A	8: 71,861,973 (GRCm39)	R492H	possibly damaging	Het
Ankub1	G	A	3: 57,599,713 (GRCm39)	H19Y	possibly damaging	Het
Anln	C	A	9: 22,244,464 (GRCm39)	W1083L	probably benign	Het
Apaf1	G	T	10: 90,867,556 (GRCm39)	S763*	probably null	Het
Apba3	A	G	10: 81,105,128 (GRCm39)	T134A	probably benign	Het
Armh3	A	T	19: 45,953,820 (GRCm39)	I188K	probably damaging	Het
Bod1l	C	T	5: 41,976,532 (GRCm39)	S1594N	probably benign	Het
C7	T	C	15: 5,019,910 (GRCm39)	M746V	probably benign	Het
Cdkn2a	T	A	4: 89,212,730 (GRCm39)	I11F	possibly damaging	Het
Cideb	T	C	14: 55,992,617 (GRCm39)	M100V	possibly damaging	Het
Cntnap5c	T	C	17: 58,612,547 (GRCm39)	L862P	possibly damaging	Het
Cyp2ab1	A	G	16: 20,132,639 (GRCm39)	F220L	possibly damaging	Het
Ddx10	A	T	9: 53,151,805 (GRCm39)	D73E	probably benign	Het
Dgkg	A	G	16: 22,384,067 (GRCm39)	F462S	probably damaging	Het
Dlgap3	C	T	4: 127,089,159 (GRCm39)	H252Y	probably damaging	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
Dnaaf6rt	A	G	1: 31,262,077 (GRCm39)	S20G	probably benign	Het
Dnai4	G	A	4: 102,907,390 (GRCm39)	T632M	probably damaging	Het
Dtnb	A	G	12: 3,831,273 (GRCm39)	T658A	probably benign	Het
Duox2	T	A	2: 122,125,639 (GRCm39)	S323C	probably damaging	Het
Dync1h1	T	A	12: 110,581,026 (GRCm39)	I251N	probably damaging	Het
Eml5	A	G	12: 98,768,705 (GRCm39)	S1457P	probably damaging	Het
Fam114a1	T	A	5: 65,153,247 (GRCm39)		probably null	Het
Fcho1	A	T	8: 72,163,133 (GRCm39)	L632Q	probably damaging	Het
Gm12695	T	C	4: 96,612,182 (GRCm39)	Y527C	possibly damaging	Het
Gm16223	T	C	5: 42,371,942 (GRCm39)	C111R	unknown	Het
H2-Q4	T	A	17: 35,599,378 (GRCm39)	S154T	possibly damaging	Het
Hhat	A	G	1: 192,409,687 (GRCm39)	F125L	possibly damaging	Het
Ier5l	T	A	2: 30,363,068 (GRCm39)	D319V	probably damaging	Het
Kif5a	T	C	10: 127,081,238 (GRCm39)	D232G	probably damaging	Het
M1ap	A	G	6: 82,958,863 (GRCm39)	I165V	probably benign	Het
Map2k4	A	C	11: 65,584,282 (GRCm39)	F334V	probably damaging	Het
Mmp19	G	A	10: 128,630,848 (GRCm39)	R156H	probably damaging	Het
Mpped2	T	A	2: 106,575,147 (GRCm39)	Y77*	probably null	Het
Nhs	T	A	X: 160,625,717 (GRCm39)	H544L	probably damaging	Het
Nr4a1	C	A	15: 101,171,948 (GRCm39)	H541N	probably damaging	Het
Or4a74	A	G	2: 89,439,822 (GRCm39)	V208A	probably benign	Het
Or5b122	A	T	19: 13,562,965 (GRCm39)	Q99L	probably damaging	Het
Pak6	A	C	2: 118,519,332 (GRCm39)	N17T	probably damaging	Het
Pcnt	T	A	10: 76,216,214 (GRCm39)	T2225S	possibly damaging	Het
Pdzd2	A	G	15: 12,385,905 (GRCm39)	L955P	probably damaging	Het
Phf21a	A	G	2: 92,178,381 (GRCm39)	D357G	probably damaging	Het
Pkhd1l1	G	T	15: 44,422,035 (GRCm39)	A3102S	probably damaging	Het
Plch2	A	T	4: 155,074,366 (GRCm39)	L754Q	probably damaging	Het
Plekhd1	A	G	12: 80,768,066 (GRCm39)	N335D	probably benign	Het
Pole	C	A	5: 110,473,417 (GRCm39)	T1737N	probably damaging	Het
Potefam1	T	C	2: 111,030,763 (GRCm39)	E382G	probably damaging	Het
Pramel6	G	A	2: 87,339,088 (GRCm39)	S96N	probably damaging	Het
Prdm14	A	C	1: 13,195,954 (GRCm39)	Y36D	possibly damaging	Het
Psg27	T	C	7: 18,294,342 (GRCm39)	D355G	probably damaging	Het
Rfc1	A	T	5: 65,459,282 (GRCm39)	D225E	probably damaging	Het
Sec16a	A	G	2: 26,330,251 (GRCm39)	I588T	probably damaging	Het
Setd6	G	A	8: 96,443,416 (GRCm39)	V60M	probably damaging	Het
Sgk3	A	G	1: 9,961,649 (GRCm39)	I432V	probably benign	Het
Six2	A	G	17: 85,994,933 (GRCm39)	S150P	probably damaging	Het
Slc1a6	T	C	10: 78,635,964 (GRCm39)	V343A	possibly damaging	Het
Slc43a3	T	C	2: 84,774,956 (GRCm39)		probably null	Het
Smc3	A	G	19: 53,619,964 (GRCm39)	D620G	probably benign	Het
Smg6	C	G	11: 74,821,120 (GRCm39)	P464A	probably damaging	Het
Sox11	T	C	12: 27,392,278 (GRCm39)	T44A	possibly damaging	Het
Spata22	A	G	11: 73,227,052 (GRCm39)	R89G	possibly damaging	Het
Spmip6	A	G	4: 41,507,519 (GRCm39)		probably null	Het
Stk3	T	C	15: 34,959,195 (GRCm39)	M256V	possibly damaging	Het
Syne2	A	G	12: 76,062,353 (GRCm39)	D4226G	possibly damaging	Het
Tecpr2	T	C	12: 110,934,863 (GRCm39)	S1370P	possibly damaging	Het
Tek	A	G	4: 94,715,966 (GRCm39)	I463V	probably benign	Het
Trib1	T	A	15: 59,526,189 (GRCm39)	I253N	probably damaging	Het
Triobp	G	T	15: 78,858,095 (GRCm39)	G1232V	probably damaging	Het
Trpm6	G	A	19: 18,853,406 (GRCm39)	V1809M	probably damaging	Het
Tsc22d4	A	G	5: 137,760,749 (GRCm39)	K57E	possibly damaging	Het
Vmn2r109	T	A	17: 20,784,974 (GRCm39)	K15N	probably benign	Het
Wnt9a	A	G	11: 59,222,055 (GRCm39)	N318D	probably damaging	Het
Wwp1	A	G	4: 19,662,181 (GRCm39)	V138A	possibly damaging	Het
Zfp37	A	T	4: 62,109,945 (GRCm39)	M411K	probably damaging	Het
Zfp715	T	A	7: 42,960,544 (GRCm39)	T16S	probably benign	Het
Zfp932	A	G	5: 110,157,684 (GRCm39)	T461A	possibly damaging	Het
Zscan29	A	T	2: 120,991,336 (GRCm39)	C817*	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
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
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'- TGAAGGCCAAAACTAGGTCTG -3'
(R):5'- GTCGGCCCCAAATGAATCAC -3'

Sequencing Primer
(F):5'- GGCCAAAACTAGGTCTGAAGAAG -3'
(R):5'- TGCACCTTACCTTGTCAACAAATG -3'

Posted On

2014-09-17