Mutagenetix > Incidental Mutation

Incidental Mutation 'R5922:Myh6'

461652

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

043240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5922 (G1)

Quality Score

209

Status

Not validated

Chromosome

Chromosomal Location

55179378-55204384 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55183931 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 1668 (D1668N)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000226297] [ENSMUST00000228731]

AlphaFold

Q02566

Predicted Effect

probably damaging
Transcript: ENSMUST00000081857
AA Change: D1668N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: D1668N

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

probably damaging
Transcript: ENSMUST00000226297
AA Change: D1668N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227905

Predicted Effect

probably benign
Transcript: ENSMUST00000228731

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.6%

Validation Efficiency

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl7a	G	T	4: 56,743,827 (GRCm39)	R118L	probably damaging	Het
Atr	A	G	9: 95,785,735 (GRCm39)	D1429G	probably benign	Het
Brinp2	A	T	1: 158,076,925 (GRCm39)	V390D	possibly damaging	Het
Cpn1	T	C	19: 43,974,532 (GRCm39)	S66G	probably damaging	Het
Dnal1	C	A	12: 84,173,746 (GRCm39)	L55M	probably damaging	Het
Dus2	G	A	8: 106,780,037 (GRCm39)	R453Q	possibly damaging	Het
Efcab5	T	C	11: 77,079,570 (GRCm39)	T59A	probably benign	Het
Elmo1	A	G	13: 20,789,339 (GRCm39)	D685G	probably damaging	Het
Ern1	T	C	11: 106,312,556 (GRCm39)	E275G	probably damaging	Het
Etnk2	A	G	1: 133,291,623 (GRCm39)		probably null	Het
Fign	T	C	2: 63,809,404 (GRCm39)	D622G	probably damaging	Het
Gjb2	A	G	14: 57,337,755 (GRCm39)	M151T	probably benign	Het
Heatr9	C	T	11: 83,403,193 (GRCm39)		probably null	Het
Herpud2	G	A	9: 25,020,280 (GRCm39)	L359F	probably benign	Het
Hpx	C	T	7: 105,244,831 (GRCm39)	R118H	probably damaging	Het
Hyal2	A	G	9: 107,448,106 (GRCm39)	Y253C	probably damaging	Het
Igkv14-130	T	C	6: 67,768,206 (GRCm39)	C22R	probably damaging	Het
Ms4a6b	T	A	19: 11,497,743 (GRCm39)	I14N	possibly damaging	Het
Myb	T	A	10: 21,028,826 (GRCm39)	I91F	probably damaging	Het
Noc2l	C	T	4: 156,325,770 (GRCm39)	Q182*	probably null	Het
Nsd1	A	G	13: 55,395,288 (GRCm39)	N1066S	probably benign	Het
Nup98	A	G	7: 101,803,224 (GRCm39)	Y659H	probably damaging	Het
Nutm1	T	C	2: 112,079,659 (GRCm39)	E752G	possibly damaging	Het
Paqr6	G	T	3: 88,273,544 (GRCm39)	A154S	probably benign	Het
Pdlim7	G	T	13: 55,656,768 (GRCm39)	T62K	probably damaging	Het
Pibf1	A	G	14: 99,374,524 (GRCm39)	D321G	probably benign	Het
Plrg1	T	A	3: 82,964,155 (GRCm39)	N29K	possibly damaging	Het
Scimp	A	C	11: 70,691,642 (GRCm39)		probably null	Het
Sec16a	T	C	2: 26,305,651 (GRCm39)	N2251S	probably benign	Het
Sec61a2	A	T	2: 5,879,134 (GRCm39)	D291E	possibly damaging	Het
Serpina3i	A	G	12: 104,232,766 (GRCm39)	K224E	probably benign	Het
Spz1	A	T	13: 92,712,106 (GRCm39)	D123E	possibly damaging	Het
St14	A	T	9: 31,041,200 (GRCm39)		probably benign	Het
Ush1c	A	T	7: 45,853,552 (GRCm39)		probably null	Het
Usp54	T	C	14: 20,602,139 (GRCm39)		probably null	Het
Zfhx3	C	T	8: 109,673,330 (GRCm39)	T1460M	probably damaging	Het
Zfp712	G	T	13: 67,189,668 (GRCm39)	N286K	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
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
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'- CTCTCAGTGGGTTTCTGCACAG -3'
(R):5'- AACAGTGCACTCTGGACCAG -3'

Sequencing Primer
(F):5'- AGGGTCCCCAACTCTGTCAC -3'
(R):5'- CAGTCGAGCCTCAGGACAAG -3'

Posted On

2017-02-28