Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02715:Myh6'

304734

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02715

Quality Score

Status

Chromosome

Chromosomal Location

55179378-55204384 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 55184365 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153961 (fasta)

Gene Model

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

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

probably benign
Transcript: ENSMUST00000226297

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227485

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227905

Predicted Effect

probably benign
Transcript: ENSMUST00000228731

Coding Region Coverage

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,089,714 (GRCm39)	I57V	probably damaging	Het
Abce1	T	A	8: 80,416,990 (GRCm39)	E340D	probably damaging	Het
Agbl2	C	T	2: 90,636,212 (GRCm39)	R583W	probably damaging	Het
Aig1	A	G	10: 13,744,360 (GRCm39)		probably null	Het
Atpsckmt	A	G	15: 31,606,149 (GRCm39)	T36A	probably benign	Het
Brd3	C	A	2: 27,344,495 (GRCm39)	A412S	possibly damaging	Het
C3	A	G	17: 57,511,158 (GRCm39)		probably benign	Het
Ccdc127	A	G	13: 74,504,893 (GRCm39)	E147G	probably benign	Het
Chrna4	A	G	2: 180,671,374 (GRCm39)		probably benign	Het
Cnn2	T	C	10: 79,829,323 (GRCm39)	L151P	probably damaging	Het
Col11a1	G	T	3: 113,923,058 (GRCm39)	M7I	probably benign	Het
Cstdc4	T	C	16: 36,008,315 (GRCm39)	I67T	possibly damaging	Het
Fastkd1	A	G	2: 69,542,469 (GRCm39)		probably null	Het
Fcho2	A	G	13: 98,932,843 (GRCm39)	M53T	probably damaging	Het
Fmnl2	T	C	2: 52,962,222 (GRCm39)	Y236H	possibly damaging	Het
G6bos	A	G	17: 35,284,537 (GRCm39)		probably null	Het
Gramd1a	C	T	7: 30,835,279 (GRCm39)	G436D	probably damaging	Het
Hivep2	A	G	10: 14,007,131 (GRCm39)	Y1243C	probably benign	Het
Lrit2	A	G	14: 36,794,505 (GRCm39)	D523G	probably benign	Het
Lrrc2	A	C	9: 110,799,182 (GRCm39)	D177A	probably damaging	Het
Lyst	T	A	13: 13,848,905 (GRCm39)		probably null	Het
Mrgpra6	A	T	7: 46,838,396 (GRCm39)		probably benign	Het
Myzap	C	A	9: 71,422,397 (GRCm39)	E392*	probably null	Het
Ndst3	G	A	3: 123,340,410 (GRCm39)		probably benign	Het
Nlrc5	C	A	8: 95,201,296 (GRCm39)	P130H	probably damaging	Het
Obscn	T	C	11: 58,971,137 (GRCm39)	T2526A	probably benign	Het
Or1e26	T	A	11: 73,479,947 (GRCm39)	I206F	probably benign	Het
Pcnt	C	A	10: 76,204,556 (GRCm39)		probably benign	Het
Pfpl	T	A	19: 12,407,145 (GRCm39)	C465*	probably null	Het
Pkd1l3	T	A	8: 110,353,458 (GRCm39)	C680S	probably damaging	Het
Ppp1r10	G	T	17: 36,241,604 (GRCm39)	G793V	unknown	Het
Prss27	A	T	17: 24,263,953 (GRCm39)	D213V	possibly damaging	Het
Sh2d5	T	C	4: 137,984,018 (GRCm39)		probably benign	Het
Spata31d1a	T	C	13: 59,851,549 (GRCm39)	D193G	probably benign	Het
Sptan1	T	C	2: 29,868,588 (GRCm39)	V66A	probably benign	Het
Synpr	T	C	14: 13,608,618 (GRCm38)	S133P	probably damaging	Het
Tagln3	T	C	16: 45,544,588 (GRCm39)	N28D	probably benign	Het
Tfrc	A	G	16: 32,443,189 (GRCm39)	T494A	probably benign	Het
Tmem38a	T	C	8: 73,333,512 (GRCm39)	I77T	possibly damaging	Het
Tmem42	C	A	9: 122,851,295 (GRCm39)	T86N	probably damaging	Het
Ttc8	T	A	12: 98,910,179 (GRCm39)		probably benign	Het
Tub	G	A	7: 108,628,517 (GRCm39)	V342I	probably benign	Het
Vmn2r103	A	T	17: 20,014,218 (GRCm39)	I337F	probably damaging	Het
Xkr7	A	G	2: 152,896,277 (GRCm39)	E377G	probably damaging	Het
Zfp292	C	T	4: 34,819,542 (GRCm39)	G260D	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
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
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

Posted On

2015-04-16