Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01695:Myh6'

104237

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh6

Ensembl Gene

ENSMUSG00000040752

Gene Name

myosin, heavy polypeptide 6, cardiac muscle, alpha

Synonyms

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01695

Quality Score

Status

Chromosome

Chromosomal Location

54941921-54966927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54957413 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 662 (T662A)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

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

AlphaFold

Q02566

Predicted Effect

probably benign
Transcript: ENSMUST00000081857
AA Change: T662A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: T662A

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: ENSMUST00000131892

Predicted Effect

probably benign
Transcript: ENSMUST00000226297
AA Change: T662A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap3b2	T	A	7: 81,476,939 (GRCm38)		probably benign	Het
Arfgef3	T	C	10: 18,603,419 (GRCm38)	T1483A	probably benign	Het
Arl5a	A	T	2: 52,412,105 (GRCm38)	I99N	probably damaging	Het
Bahcc1	G	A	11: 120,276,609 (GRCm38)	G1279R	probably benign	Het
Bbs5	A	G	2: 69,649,090 (GRCm38)	N43S	probably damaging	Het
Bltp2	T	C	11: 78,265,193 (GRCm38)	V177A	probably benign	Het
Calhm5	A	G	10: 34,092,202 (GRCm38)	V285A	possibly damaging	Het
Cdh23	C	T	10: 60,331,833 (GRCm38)	V1795M	probably benign	Het
Cep350	T	C	1: 155,944,158 (GRCm38)	E353G	probably damaging	Het
Cps1	A	T	1: 67,197,035 (GRCm38)	I976L	probably benign	Het
Ctdp1	A	T	18: 80,449,626 (GRCm38)	S551R	probably damaging	Het
Cyp2b19	C	T	7: 26,759,064 (GRCm38)	T68I	probably damaging	Het
Esr2	A	G	12: 76,145,319 (GRCm38)	S312P	probably damaging	Het
Gm11639	A	T	11: 104,736,063 (GRCm38)	E864D	probably damaging	Het
Gm6408	A	G	5: 146,482,129 (GRCm38)		probably benign	Het
Krt9	A	T	11: 100,191,437 (GRCm38)		probably null	Het
Ntn1	T	C	11: 68,226,604 (GRCm38)	D473G	probably benign	Het
Or51a7	T	C	7: 102,965,583 (GRCm38)	F161S	probably damaging	Het
Piezo1	A	T	8: 122,495,509 (GRCm38)	C961S	possibly damaging	Het
Pik3c2a	T	C	7: 116,417,518 (GRCm38)	T335A	possibly damaging	Het
Plaa	A	T	4: 94,574,037 (GRCm38)	Y140*	probably null	Het
Plxnb2	T	C	15: 89,157,214 (GRCm38)	I1749V	possibly damaging	Het
Ppp1r9a	T	A	6: 5,064,003 (GRCm38)	N555K	probably damaging	Het
Ptprn2	T	A	12: 116,841,388 (GRCm38)	H174Q	probably benign	Het
Reln	G	A	5: 21,920,438 (GRCm38)	T2749M	probably damaging	Het
Scarf1	A	G	11: 75,521,957 (GRCm38)	N384S	probably damaging	Het
Scrt1	T	A	15: 76,518,950 (GRCm38)	H280L	unknown	Het
Serpina1f	C	A	12: 103,693,684 (GRCm38)	C113F	probably damaging	Het
Setdb2	A	T	14: 59,402,293 (GRCm38)		probably benign	Het
Strc	A	G	2: 121,375,298 (GRCm38)	L830P	probably damaging	Het
Tifab	T	C	13: 56,176,385 (GRCm38)	S82G	probably benign	Het
Tmem217	T	A	17: 29,526,348 (GRCm38)	H136L	probably damaging	Het
Trio	T	C	15: 27,773,001 (GRCm38)	E715G	probably damaging	Het
Ttn	A	T	2: 76,944,016 (GRCm38)	M2182K	probably damaging	Het
Ube2d1	T	C	10: 71,262,252 (GRCm38)	D12G	probably damaging	Het
Utrn	T	C	10: 12,745,342 (GRCm38)	D195G	probably benign	Het

Other mutations in Myh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Myh6	APN	14	54,946,993 (GRCm38)	missense	probably benign	0.13
IGL00401:Myh6	APN	14	54,953,417 (GRCm38)	missense	probably benign	0.00
IGL01062:Myh6	APN	14	54,952,292 (GRCm38)	missense	probably damaging	0.99
IGL01300:Myh6	APN	14	54,963,091 (GRCm38)	missense	possibly damaging	0.94
IGL01688:Myh6	APN	14	54,963,960 (GRCm38)	missense	possibly damaging	0.74
IGL01762:Myh6	APN	14	54,962,081 (GRCm38)	missense	probably benign	0.17
IGL01803:Myh6	APN	14	54,944,543 (GRCm38)	missense	probably damaging	1.00
IGL02079:Myh6	APN	14	54,950,541 (GRCm38)	missense	probably damaging	1.00
IGL02315:Myh6	APN	14	54,953,834 (GRCm38)	missense	probably damaging	1.00
IGL02340:Myh6	APN	14	54,957,155 (GRCm38)	missense	possibly damaging	0.76
IGL02377:Myh6	APN	14	54,944,318 (GRCm38)	missense	probably benign	0.10
IGL02715:Myh6	APN	14	54,946,908 (GRCm38)	unclassified	probably benign
IGL02742:Myh6	APN	14	54,953,924 (GRCm38)	missense	possibly damaging	0.62
P0028:Myh6	UTSW	14	54,963,637 (GRCm38)	missense	probably benign
PIT4520001:Myh6	UTSW	14	54,950,124 (GRCm38)	missense	probably benign	0.00
R0058:Myh6	UTSW	14	54,963,404 (GRCm38)	missense	probably damaging	1.00
R0090:Myh6	UTSW	14	54,958,704 (GRCm38)	missense	probably damaging	0.97
R0360:Myh6	UTSW	14	54,948,347 (GRCm38)	nonsense	probably null
R0364:Myh6	UTSW	14	54,948,347 (GRCm38)	nonsense	probably null
R0395:Myh6	UTSW	14	54,946,320 (GRCm38)	missense	possibly damaging	0.94
R0549:Myh6	UTSW	14	54,958,608 (GRCm38)	missense	probably damaging	1.00
R0559:Myh6	UTSW	14	54,958,554 (GRCm38)	missense	probably benign
R0800:Myh6	UTSW	14	54,953,278 (GRCm38)	splice site	probably benign
R0892:Myh6	UTSW	14	54,947,054 (GRCm38)	missense	probably benign	0.17
R0975:Myh6	UTSW	14	54,953,369 (GRCm38)	missense	probably damaging	1.00
R1051:Myh6	UTSW	14	54,949,527 (GRCm38)	missense	probably benign	0.12
R1180:Myh6	UTSW	14	54,944,468 (GRCm38)	missense	possibly damaging	0.93
R1311:Myh6	UTSW	14	54,946,365 (GRCm38)	missense	probably damaging	0.96
R1490:Myh6	UTSW	14	54,962,718 (GRCm38)	nonsense	probably null
R1531:Myh6	UTSW	14	54,956,506 (GRCm38)	missense	probably damaging	1.00
R1835:Myh6	UTSW	14	54,957,401 (GRCm38)	missense	probably benign	0.03
R1845:Myh6	UTSW	14	54,944,674 (GRCm38)	missense	probably damaging	1.00
R2033:Myh6	UTSW	14	54,963,645 (GRCm38)	missense	probably benign	0.00
R2143:Myh6	UTSW	14	54,952,954 (GRCm38)	missense	probably damaging	1.00
R2146:Myh6	UTSW	14	54,953,771 (GRCm38)	missense	probably damaging	1.00
R2155:Myh6	UTSW	14	54,953,794 (GRCm38)	missense	probably benign
R2484:Myh6	UTSW	14	54,961,242 (GRCm38)	nonsense	probably null
R3155:Myh6	UTSW	14	54,944,668 (GRCm38)	missense	probably damaging	0.97
R3156:Myh6	UTSW	14	54,944,668 (GRCm38)	missense	probably damaging	0.97
R3780:Myh6	UTSW	14	54,963,958 (GRCm38)	missense	probably benign	0.00
R3906:Myh6	UTSW	14	54,956,955 (GRCm38)	missense	probably benign	0.04
R3937:Myh6	UTSW	14	54,963,055 (GRCm38)	missense	probably benign	0.00
R3938:Myh6	UTSW	14	54,963,055 (GRCm38)	missense	probably benign	0.00
R4236:Myh6	UTSW	14	54,960,362 (GRCm38)	missense	probably benign	0.15
R4373:Myh6	UTSW	14	54,962,108 (GRCm38)	missense	probably damaging	0.97
R4374:Myh6	UTSW	14	54,962,108 (GRCm38)	missense	probably damaging	0.97
R4377:Myh6	UTSW	14	54,962,108 (GRCm38)	missense	probably damaging	0.97
R4798:Myh6	UTSW	14	54,953,293 (GRCm38)	missense	probably damaging	1.00
R4844:Myh6	UTSW	14	54,947,194 (GRCm38)	missense	possibly damaging	0.89
R4908:Myh6	UTSW	14	54,956,962 (GRCm38)	missense	probably damaging	1.00
R5256:Myh6	UTSW	14	54,952,661 (GRCm38)	missense	probably damaging	1.00
R5277:Myh6	UTSW	14	54,956,562 (GRCm38)	missense	probably benign	0.01
R5356:Myh6	UTSW	14	54,953,762 (GRCm38)	missense	probably damaging	1.00
R5433:Myh6	UTSW	14	54,953,924 (GRCm38)	missense	probably benign	0.32
R5616:Myh6	UTSW	14	54,956,581 (GRCm38)	missense	probably benign	0.17
R5784:Myh6	UTSW	14	54,953,064 (GRCm38)	missense	possibly damaging	0.93
R5820:Myh6	UTSW	14	54,958,680 (GRCm38)	missense	probably damaging	0.99
R5835:Myh6	UTSW	14	54,950,407 (GRCm38)	missense	probably damaging	1.00
R5922:Myh6	UTSW	14	54,946,474 (GRCm38)	missense	probably damaging	0.99
R5975:Myh6	UTSW	14	54,950,508 (GRCm38)	missense	probably benign	0.31
R5988:Myh6	UTSW	14	54,965,394 (GRCm38)	missense	probably damaging	1.00
R6630:Myh6	UTSW	14	54,942,001 (GRCm38)	missense	probably benign	0.01
R6845:Myh6	UTSW	14	54,944,749 (GRCm38)	missense	probably benign
R7009:Myh6	UTSW	14	54,952,292 (GRCm38)	missense	probably damaging	0.99
R7154:Myh6	UTSW	14	54,960,307 (GRCm38)	missense	probably benign	0.43
R7293:Myh6	UTSW	14	54,947,174 (GRCm38)	missense	probably benign	0.00
R7313:Myh6	UTSW	14	54,960,270 (GRCm38)	missense	probably benign	0.00
R7339:Myh6	UTSW	14	54,961,568 (GRCm38)	splice site	probably null
R7348:Myh6	UTSW	14	54,952,259 (GRCm38)	missense	probably damaging	1.00
R7487:Myh6	UTSW	14	54,953,496 (GRCm38)	nonsense	probably null
R7680:Myh6	UTSW	14	54,948,733 (GRCm38)	missense	possibly damaging	0.88
R7726:Myh6	UTSW	14	54,965,365 (GRCm38)	missense	probably damaging	0.99
R7743:Myh6	UTSW	14	54,957,150 (GRCm38)	missense	probably damaging	0.99
R7807:Myh6	UTSW	14	54,942,440 (GRCm38)	missense	probably damaging	1.00
R7851:Myh6	UTSW	14	54,953,051 (GRCm38)	missense	possibly damaging	0.94
R8145:Myh6	UTSW	14	54,953,925 (GRCm38)	missense	probably benign	0.45
R8344:Myh6	UTSW	14	54,953,434 (GRCm38)	missense	probably damaging	0.99
R8407:Myh6	UTSW	14	54,963,931 (GRCm38)	missense	probably benign	0.13
R8415:Myh6	UTSW	14	54,944,378 (GRCm38)	missense	probably damaging	0.98
R8782:Myh6	UTSW	14	54,949,900 (GRCm38)	missense	possibly damaging	0.76
R9034:Myh6	UTSW	14	54,948,139 (GRCm38)	missense	possibly damaging	0.47
R9354:Myh6	UTSW	14	54,963,535 (GRCm38)	missense	probably damaging	0.99
R9441:Myh6	UTSW	14	54,960,314 (GRCm38)	missense	probably benign	0.02
R9449:Myh6	UTSW	14	54,952,322 (GRCm38)	missense	possibly damaging	0.50
R9485:Myh6	UTSW	14	54,944,345 (GRCm38)	missense	probably benign	0.01
R9612:Myh6	UTSW	14	54,963,597 (GRCm38)	missense	probably benign	0.09
R9738:Myh6	UTSW	14	54,952,302 (GRCm38)	missense	probably benign	0.03
R9742:Myh6	UTSW	14	54,956,599 (GRCm38)	missense	probably benign
R9749:Myh6	UTSW	14	54,953,486 (GRCm38)	missense	probably damaging	0.99
Z1088:Myh6	UTSW	14	54,956,997 (GRCm38)	missense	probably damaging	1.00

Posted On

2014-01-21