Mutagenetix > Incidental Mutation

Incidental Mutation 'R0800:Myh6'

76248

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

038980-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0800 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

55179378-55204384 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 55190735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

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

AlphaFold

Q02566

Predicted Effect

probably benign
Transcript: ENSMUST00000081857

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752

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 benign
Transcript: ENSMUST00000226297

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 93.7%

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B230217C12Rik	T	C	11: 97,732,086 (GRCm39)		probably benign	Het
Cacna1g	T	C	11: 94,317,265 (GRCm39)	D1498G	probably damaging	Het
Ces3b	T	A	8: 105,811,901 (GRCm39)	D103E	possibly damaging	Het
Chd5	A	G	4: 152,440,614 (GRCm39)	Y158C	probably damaging	Het
Cic	A	G	7: 24,984,662 (GRCm39)	T1033A	probably benign	Het
Cst13	A	T	2: 148,672,247 (GRCm39)	I141F	possibly damaging	Het
Dnah7a	A	G	1: 53,604,855 (GRCm39)	L1301P	probably damaging	Het
Dnah8	T	A	17: 30,923,636 (GRCm39)	F1201L	probably benign	Het
Dok7	T	C	5: 35,232,633 (GRCm39)		probably benign	Het
Dzip3	A	G	16: 48,774,171 (GRCm39)		probably benign	Het
Eml6	A	G	11: 29,699,877 (GRCm39)	V1753A	probably benign	Het
Fer1l4	A	G	2: 155,887,583 (GRCm39)	F538L	possibly damaging	Het
Fmo2	C	T	1: 162,704,383 (GRCm39)	D508N	probably benign	Het
Gabpb1	A	T	2: 126,472,248 (GRCm39)	Y351N	probably damaging	Het
Gnaq	T	A	19: 16,312,428 (GRCm39)	V230E	probably damaging	Het
Gprc5c	A	C	11: 114,757,537 (GRCm39)	K48Q	probably damaging	Het
Gzmd	A	G	14: 56,369,948 (GRCm39)	L11P	unknown	Het
Hbq1b	A	C	11: 32,237,581 (GRCm39)	H123P	probably damaging	Het
Hibadh	T	A	6: 52,533,490 (GRCm39)	I209F	probably damaging	Het
Il17f	G	T	1: 20,848,177 (GRCm39)	C100*	probably null	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Itga8	A	T	2: 12,198,362 (GRCm39)	V541E	possibly damaging	Het
Kifc5b	T	A	17: 27,142,158 (GRCm39)	V212D	probably benign	Het
Klra2	A	T	6: 131,207,137 (GRCm39)	Y157*	probably null	Het
Kprp	T	C	3: 92,732,342 (GRCm39)	Y236C	unknown	Het
Mmp12	A	T	9: 7,357,827 (GRCm39)	M414L	possibly damaging	Het
Nlgn2	A	G	11: 69,716,823 (GRCm39)	F573L	possibly damaging	Het
Or10j7	C	T	1: 173,011,627 (GRCm39)	A125T	probably damaging	Het
Or4c124	A	G	2: 89,156,008 (GRCm39)	V172A	probably benign	Het
Pakap	T	A	4: 57,709,650 (GRCm39)	D198E	probably benign	Het
Papss1	T	A	3: 131,305,615 (GRCm39)		probably benign	Het
Parp4	A	G	14: 56,827,408 (GRCm39)	T181A	probably benign	Het
Piwil2	A	T	14: 70,646,486 (GRCm39)		probably benign	Het
Pla2g12b	A	G	10: 59,239,642 (GRCm39)	N17S	probably benign	Het
Polr3c	C	A	3: 96,626,627 (GRCm39)	V266L	probably damaging	Het
Pou3f3	A	G	1: 42,737,527 (GRCm39)	T408A	probably damaging	Het
Pskh1	A	G	8: 106,640,238 (GRCm39)	Y306C	probably damaging	Het
Rom1	T	A	19: 8,906,272 (GRCm39)	D89V	probably damaging	Het
Sell	T	A	1: 163,893,770 (GRCm39)		probably null	Het
Sox6	A	G	7: 115,178,249 (GRCm39)		probably null	Het
Speg	T	C	1: 75,400,133 (GRCm39)	S2527P	probably damaging	Het
Stat3	A	G	11: 100,784,981 (GRCm39)		probably benign	Het
Stra6l	A	G	4: 45,882,797 (GRCm39)	T503A	probably benign	Het
Tapbp	A	G	17: 34,145,227 (GRCm39)	T375A	probably benign	Het
Tgm6	G	A	2: 129,985,342 (GRCm39)	V382M	possibly damaging	Het
Trappc9	A	T	15: 72,824,981 (GRCm39)		probably benign	Het
Txlnb	A	G	10: 17,675,240 (GRCm39)	N131S	possibly damaging	Het
Usp19	A	G	9: 108,372,353 (GRCm39)	E469G	probably damaging	Het
Vmn2r17	T	A	5: 109,575,192 (GRCm39)		probably benign	Het
Zfp750	T	C	11: 121,402,838 (GRCm39)	T637A	probably benign	Het
Zhx2	A	C	15: 57,686,124 (GRCm39)	I498L	probably damaging	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
R0892:Myh6	UTSW	14	55,184,511 (GRCm39)	missense	probably benign	0.17
R0975:Myh6	UTSW	14	55,190,826 (GRCm39)	missense	probably damaging	1.00
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'- TGGCAATGATTTCATCCAGCCCAG -3'
(R):5'- ACAACCTCAATGATGCAGAGGAGC -3'

Sequencing Primer
(F):5'- CAGCCATCTCCTCTGTTAGG -3'
(R):5'- GCTGATCAAGAACAAGATCCAG -3'

Posted On

2013-10-16