Mutagenetix > Incidental Mutation

Incidental Mutation 'R0975:Myh6'

81101

Institutional Source

Beutler Lab

Gene Symbol

Myh6

Ensembl Gene

ENSMUSG00000040752

Gene Name

myosin, heavy polypeptide 6, cardiac muscle, alpha

Synonyms

cardiomyopathy, hypertrophic 1, Myhca, Myhc-a, alphaMHC, alpha myosin, alpha cardiac MHC, A830009F23Rik, alpha-MHC

MMRRC Submission

039104-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55179378-55204384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55190826 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 950 (S950P)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297]

AlphaFold

Q02566

Predicted Effect

probably damaging
Transcript: ENSMUST00000081857
AA Change: S950P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: S950P

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	73	1.9e-15	PFAM
MYSc	79	781	N/A	SMART
IQ	782	804	1.15e-1	SMART
IQ	808	830	3.32e2	SMART
Pfam:Myosin_tail_1	845	1926	2.1e-162	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131892

Predicted Effect

probably damaging
Transcript: ENSMUST00000226297
AA Change: S950P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Meta Mutation Damage Score

0.1452

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 95.8%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality associated with heart defects while heterozygotes show cardiac myofibrillar disarray, cardiac dysfunction and fibrosis. Mice heterozygous for different knock-in alleles may develop hypertrophic or dilated forms of cardiomyopathy. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,078,155 (GRCm39)	F690L	probably benign	Het
Ampd2	T	C	3: 107,984,437 (GRCm39)	Y464C	probably damaging	Het
Arap2	A	T	5: 62,888,229 (GRCm39)		probably benign	Het
Arhgap5	T	G	12: 52,563,927 (GRCm39)	N299K	possibly damaging	Het
Atl3	G	A	19: 7,498,500 (GRCm39)	W210*	probably null	Het
Bag1	T	C	4: 40,937,152 (GRCm39)	N320D	probably benign	Het
Ccdc39	T	C	3: 33,898,274 (GRCm39)	N24D	probably damaging	Het
Ccdc88b	G	A	19: 6,823,993 (GRCm39)	P1420L	probably damaging	Het
Cdr2	G	A	7: 120,557,614 (GRCm39)	P304S	probably benign	Het
Col20a1	A	T	2: 180,648,619 (GRCm39)	I969F	possibly damaging	Het
Coro1c	C	G	5: 114,020,182 (GRCm39)	R11P	probably damaging	Het
Cracd	T	C	5: 77,004,165 (GRCm39)		probably benign	Het
Cul7	T	A	17: 46,974,116 (GRCm39)	L1467H	probably damaging	Het
Cyp2c67	T	G	19: 39,597,622 (GRCm39)	K459Q	possibly damaging	Het
Cyp2c68	T	C	19: 39,691,802 (GRCm39)	T374A	possibly damaging	Het
Efcab6	T	A	15: 83,857,532 (GRCm39)	N289I	probably benign	Het
Elmo1	T	A	13: 20,435,307 (GRCm39)	I126N	probably damaging	Het
Esr2	C	T	12: 76,192,082 (GRCm39)	M315I	possibly damaging	Het
Fbxw14	T	A	9: 109,100,307 (GRCm39)	N449I	probably benign	Het
Frmpd1	C	T	4: 45,279,000 (GRCm39)	T575I	probably benign	Het
Gm14403	T	G	2: 177,201,217 (GRCm39)	N145K	probably damaging	Het
Gnl2	A	G	4: 124,942,171 (GRCm39)	D392G	probably damaging	Het
Hmcn1	A	C	1: 150,453,128 (GRCm39)	S5396A	probably benign	Het
Hoxd12	G	T	2: 74,506,278 (GRCm39)	R230L	probably damaging	Het
Khsrp	T	A	17: 57,334,066 (GRCm39)	D154V	possibly damaging	Het
Klhl28	C	T	12: 64,998,462 (GRCm39)	R344H	possibly damaging	Het
Klhl3	C	T	13: 58,161,677 (GRCm39)	V473M	possibly damaging	Het
Larp1b	A	G	3: 40,924,925 (GRCm39)	E134G	probably damaging	Het
Mcm9	G	A	10: 53,414,742 (GRCm39)	Q113*	probably null	Het
Mug1	A	T	6: 121,855,498 (GRCm39)	D944V	probably damaging	Het
Nfix	G	A	8: 85,453,155 (GRCm39)	R300C	probably damaging	Het
Or1n1b	C	A	2: 36,780,562 (GRCm39)	M99I	possibly damaging	Het
Or5k14	T	A	16: 58,693,513 (GRCm39)		probably null	Het
Plcb4	T	C	2: 135,829,832 (GRCm39)		probably benign	Het
Pomt1	T	A	2: 32,143,907 (GRCm39)		probably null	Het
Prpf8	T	C	11: 75,399,500 (GRCm39)		probably benign	Het
Rad9b	C	T	5: 122,472,320 (GRCm39)		probably null	Het
Recql5	A	C	11: 115,814,082 (GRCm39)	D240E	probably damaging	Het
Sec31a	A	C	5: 100,543,763 (GRCm39)		probably null	Het
Slc5a4b	A	G	10: 75,917,241 (GRCm39)	V265A	probably benign	Het
Snx29	A	T	16: 11,165,735 (GRCm39)	D7V	possibly damaging	Het
Stk31	C	G	6: 49,400,343 (GRCm39)	D389E	probably damaging	Het
Tmeff2	T	C	1: 50,977,364 (GRCm39)		probably benign	Het
Tmem131	C	T	1: 36,893,966 (GRCm39)	A146T	probably damaging	Het
Tmem63c	T	A	12: 87,121,843 (GRCm39)		probably benign	Het
Tonsl	T	A	15: 76,523,132 (GRCm39)	D119V	probably damaging	Het
Trmt10a	G	A	3: 137,862,570 (GRCm39)	E287K	probably benign	Het
Vmn1r192	T	A	13: 22,371,633 (GRCm39)	M196L	probably damaging	Het
Vmn2r9	T	G	5: 108,991,169 (GRCm39)	T731P	probably damaging	Het
Wfdc6b	G	A	2: 164,455,705 (GRCm39)	M11I	probably damaging	Het
Ypel1	T	A	16: 16,925,077 (GRCm39)	T32S	probably benign	Het
Zfp827	A	G	8: 79,787,814 (GRCm39)	T327A	probably benign	Het

Other mutations in Myh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Myh6	APN	14	55,184,450 (GRCm39)	missense	probably benign	0.13
IGL00401:Myh6	APN	14	55,190,874 (GRCm39)	missense	probably benign	0.00
IGL01062:Myh6	APN	14	55,189,749 (GRCm39)	missense	probably damaging	0.99
IGL01300:Myh6	APN	14	55,200,548 (GRCm39)	missense	possibly damaging	0.94
IGL01688:Myh6	APN	14	55,201,417 (GRCm39)	missense	possibly damaging	0.74
IGL01695:Myh6	APN	14	55,194,870 (GRCm39)	missense	probably benign	0.01
IGL01762:Myh6	APN	14	55,199,538 (GRCm39)	missense	probably benign	0.17
IGL01803:Myh6	APN	14	55,182,000 (GRCm39)	missense	probably damaging	1.00
IGL02079:Myh6	APN	14	55,187,998 (GRCm39)	missense	probably damaging	1.00
IGL02315:Myh6	APN	14	55,191,291 (GRCm39)	missense	probably damaging	1.00
IGL02340:Myh6	APN	14	55,194,612 (GRCm39)	missense	possibly damaging	0.76
IGL02377:Myh6	APN	14	55,181,775 (GRCm39)	missense	probably benign	0.10
IGL02715:Myh6	APN	14	55,184,365 (GRCm39)	unclassified	probably benign
IGL02742:Myh6	APN	14	55,191,381 (GRCm39)	missense	possibly damaging	0.62
P0028:Myh6	UTSW	14	55,201,094 (GRCm39)	missense	probably benign
PIT4520001:Myh6	UTSW	14	55,187,581 (GRCm39)	missense	probably benign	0.00
R0058:Myh6	UTSW	14	55,200,861 (GRCm39)	missense	probably damaging	1.00
R0090:Myh6	UTSW	14	55,196,161 (GRCm39)	missense	probably damaging	0.97
R0360:Myh6	UTSW	14	55,185,804 (GRCm39)	nonsense	probably null
R0364:Myh6	UTSW	14	55,185,804 (GRCm39)	nonsense	probably null
R0395:Myh6	UTSW	14	55,183,777 (GRCm39)	missense	possibly damaging	0.94
R0549:Myh6	UTSW	14	55,196,065 (GRCm39)	missense	probably damaging	1.00
R0559:Myh6	UTSW	14	55,196,011 (GRCm39)	missense	probably benign
R0800:Myh6	UTSW	14	55,190,735 (GRCm39)	splice site	probably benign
R0892:Myh6	UTSW	14	55,184,511 (GRCm39)	missense	probably benign	0.17
R1051:Myh6	UTSW	14	55,186,984 (GRCm39)	missense	probably benign	0.12
R1180:Myh6	UTSW	14	55,181,925 (GRCm39)	missense	possibly damaging	0.93
R1311:Myh6	UTSW	14	55,183,822 (GRCm39)	missense	probably damaging	0.96
R1490:Myh6	UTSW	14	55,200,175 (GRCm39)	nonsense	probably null
R1531:Myh6	UTSW	14	55,193,963 (GRCm39)	missense	probably damaging	1.00
R1835:Myh6	UTSW	14	55,194,858 (GRCm39)	missense	probably benign	0.03
R1845:Myh6	UTSW	14	55,182,131 (GRCm39)	missense	probably damaging	1.00
R2033:Myh6	UTSW	14	55,201,102 (GRCm39)	missense	probably benign	0.00
R2143:Myh6	UTSW	14	55,190,411 (GRCm39)	missense	probably damaging	1.00
R2146:Myh6	UTSW	14	55,191,228 (GRCm39)	missense	probably damaging	1.00
R2155:Myh6	UTSW	14	55,191,251 (GRCm39)	missense	probably benign
R2484:Myh6	UTSW	14	55,198,699 (GRCm39)	nonsense	probably null
R3155:Myh6	UTSW	14	55,182,125 (GRCm39)	missense	probably damaging	0.97
R3156:Myh6	UTSW	14	55,182,125 (GRCm39)	missense	probably damaging	0.97
R3780:Myh6	UTSW	14	55,201,415 (GRCm39)	missense	probably benign	0.00
R3906:Myh6	UTSW	14	55,194,412 (GRCm39)	missense	probably benign	0.04
R3937:Myh6	UTSW	14	55,200,512 (GRCm39)	missense	probably benign	0.00
R3938:Myh6	UTSW	14	55,200,512 (GRCm39)	missense	probably benign	0.00
R4236:Myh6	UTSW	14	55,197,819 (GRCm39)	missense	probably benign	0.15
R4373:Myh6	UTSW	14	55,199,565 (GRCm39)	missense	probably damaging	0.97
R4374:Myh6	UTSW	14	55,199,565 (GRCm39)	missense	probably damaging	0.97
R4377:Myh6	UTSW	14	55,199,565 (GRCm39)	missense	probably damaging	0.97
R4798:Myh6	UTSW	14	55,190,750 (GRCm39)	missense	probably damaging	1.00
R4844:Myh6	UTSW	14	55,184,651 (GRCm39)	missense	possibly damaging	0.89
R4908:Myh6	UTSW	14	55,194,419 (GRCm39)	missense	probably damaging	1.00
R5256:Myh6	UTSW	14	55,190,118 (GRCm39)	missense	probably damaging	1.00
R5277:Myh6	UTSW	14	55,194,019 (GRCm39)	missense	probably benign	0.01
R5356:Myh6	UTSW	14	55,191,219 (GRCm39)	missense	probably damaging	1.00
R5433:Myh6	UTSW	14	55,191,381 (GRCm39)	missense	probably benign	0.32
R5616:Myh6	UTSW	14	55,194,038 (GRCm39)	missense	probably benign	0.17
R5784:Myh6	UTSW	14	55,190,521 (GRCm39)	missense	possibly damaging	0.93
R5820:Myh6	UTSW	14	55,196,137 (GRCm39)	missense	probably damaging	0.99
R5835:Myh6	UTSW	14	55,187,864 (GRCm39)	missense	probably damaging	1.00
R5922:Myh6	UTSW	14	55,183,931 (GRCm39)	missense	probably damaging	0.99
R5975:Myh6	UTSW	14	55,187,965 (GRCm39)	missense	probably benign	0.31
R5988:Myh6	UTSW	14	55,202,851 (GRCm39)	missense	probably damaging	1.00
R6630:Myh6	UTSW	14	55,179,458 (GRCm39)	missense	probably benign	0.01
R6845:Myh6	UTSW	14	55,182,206 (GRCm39)	missense	probably benign
R7009:Myh6	UTSW	14	55,189,749 (GRCm39)	missense	probably damaging	0.99
R7154:Myh6	UTSW	14	55,197,764 (GRCm39)	missense	probably benign	0.43
R7293:Myh6	UTSW	14	55,184,631 (GRCm39)	missense	probably benign	0.00
R7313:Myh6	UTSW	14	55,197,727 (GRCm39)	missense	probably benign	0.00
R7339:Myh6	UTSW	14	55,199,025 (GRCm39)	splice site	probably null
R7348:Myh6	UTSW	14	55,189,716 (GRCm39)	missense	probably damaging	1.00
R7487:Myh6	UTSW	14	55,190,953 (GRCm39)	nonsense	probably null
R7680:Myh6	UTSW	14	55,186,190 (GRCm39)	missense	possibly damaging	0.88
R7726:Myh6	UTSW	14	55,202,822 (GRCm39)	missense	probably damaging	0.99
R7743:Myh6	UTSW	14	55,194,607 (GRCm39)	missense	probably damaging	0.99
R7807:Myh6	UTSW	14	55,179,897 (GRCm39)	missense	probably damaging	1.00
R7851:Myh6	UTSW	14	55,190,508 (GRCm39)	missense	possibly damaging	0.94
R8145:Myh6	UTSW	14	55,191,382 (GRCm39)	missense	probably benign	0.45
R8344:Myh6	UTSW	14	55,190,891 (GRCm39)	missense	probably damaging	0.99
R8407:Myh6	UTSW	14	55,201,388 (GRCm39)	missense	probably benign	0.13
R8415:Myh6	UTSW	14	55,181,835 (GRCm39)	missense	probably damaging	0.98
R8782:Myh6	UTSW	14	55,187,357 (GRCm39)	missense	possibly damaging	0.76
R9034:Myh6	UTSW	14	55,185,596 (GRCm39)	missense	possibly damaging	0.47
R9354:Myh6	UTSW	14	55,200,992 (GRCm39)	missense	probably damaging	0.99
R9441:Myh6	UTSW	14	55,197,771 (GRCm39)	missense	probably benign	0.02
R9449:Myh6	UTSW	14	55,189,779 (GRCm39)	missense	possibly damaging	0.50
R9485:Myh6	UTSW	14	55,181,802 (GRCm39)	missense	probably benign	0.01
R9612:Myh6	UTSW	14	55,201,054 (GRCm39)	missense	probably benign	0.09
R9738:Myh6	UTSW	14	55,189,759 (GRCm39)	missense	probably benign	0.03
R9742:Myh6	UTSW	14	55,194,056 (GRCm39)	missense	probably benign
R9749:Myh6	UTSW	14	55,190,943 (GRCm39)	missense	probably damaging	0.99
Z1088:Myh6	UTSW	14	55,194,454 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCAATGATTTCATCCAGCCCAGCC -3'
(R):5'- ACAACCTCAATGATGCAGAGGAGC -3'

Sequencing Primer
(F):5'- ataaataaatCCACCTTGCCTTTAGG -3'
(R):5'- CTGTGACCAGCTGATCAAGAACA -3'

Posted On

2013-11-07