Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Myh6'

283373

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

54941921-54966927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54950541 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1152 (L1152Q)

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: L1152Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: L1152Q

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: L1152Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Myh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Myh6	APN	14	54946993	missense	probably benign	0.13
IGL00401:Myh6	APN	14	54953417	missense	probably benign	0.00
IGL01062:Myh6	APN	14	54952292	missense	probably damaging	0.99
IGL01300:Myh6	APN	14	54963091	missense	possibly damaging	0.94
IGL01688:Myh6	APN	14	54963960	missense	possibly damaging	0.74
IGL01695:Myh6	APN	14	54957413	missense	probably benign	0.01
IGL01762:Myh6	APN	14	54962081	missense	probably benign	0.17
IGL01803:Myh6	APN	14	54944543	missense	probably damaging	1.00
IGL02315:Myh6	APN	14	54953834	missense	probably damaging	1.00
IGL02340:Myh6	APN	14	54957155	missense	possibly damaging	0.76
IGL02377:Myh6	APN	14	54944318	missense	probably benign	0.10
IGL02715:Myh6	APN	14	54946908	unclassified	probably benign
IGL02742:Myh6	APN	14	54953924	missense	possibly damaging	0.62
P0028:Myh6	UTSW	14	54963637	missense	probably benign
PIT4520001:Myh6	UTSW	14	54950124	missense	probably benign	0.00
R0058:Myh6	UTSW	14	54963404	missense	probably damaging	1.00
R0090:Myh6	UTSW	14	54958704	missense	probably damaging	0.97
R0360:Myh6	UTSW	14	54948347	nonsense	probably null
R0364:Myh6	UTSW	14	54948347	nonsense	probably null
R0395:Myh6	UTSW	14	54946320	missense	possibly damaging	0.94
R0549:Myh6	UTSW	14	54958608	missense	probably damaging	1.00
R0559:Myh6	UTSW	14	54958554	missense	probably benign
R0800:Myh6	UTSW	14	54953278	splice site	probably benign
R0892:Myh6	UTSW	14	54947054	missense	probably benign	0.17
R0975:Myh6	UTSW	14	54953369	missense	probably damaging	1.00
R1051:Myh6	UTSW	14	54949527	missense	probably benign	0.12
R1180:Myh6	UTSW	14	54944468	missense	possibly damaging	0.93
R1311:Myh6	UTSW	14	54946365	missense	probably damaging	0.96
R1490:Myh6	UTSW	14	54962718	nonsense	probably null
R1531:Myh6	UTSW	14	54956506	missense	probably damaging	1.00
R1835:Myh6	UTSW	14	54957401	missense	probably benign	0.03
R1845:Myh6	UTSW	14	54944674	missense	probably damaging	1.00
R2033:Myh6	UTSW	14	54963645	missense	probably benign	0.00
R2143:Myh6	UTSW	14	54952954	missense	probably damaging	1.00
R2146:Myh6	UTSW	14	54953771	missense	probably damaging	1.00
R2155:Myh6	UTSW	14	54953794	missense	probably benign
R2484:Myh6	UTSW	14	54961242	nonsense	probably null
R3155:Myh6	UTSW	14	54944668	missense	probably damaging	0.97
R3156:Myh6	UTSW	14	54944668	missense	probably damaging	0.97
R3780:Myh6	UTSW	14	54963958	missense	probably benign	0.00
R3906:Myh6	UTSW	14	54956955	missense	probably benign	0.04
R3937:Myh6	UTSW	14	54963055	missense	probably benign	0.00
R3938:Myh6	UTSW	14	54963055	missense	probably benign	0.00
R4236:Myh6	UTSW	14	54960362	missense	probably benign	0.15
R4373:Myh6	UTSW	14	54962108	missense	probably damaging	0.97
R4374:Myh6	UTSW	14	54962108	missense	probably damaging	0.97
R4377:Myh6	UTSW	14	54962108	missense	probably damaging	0.97
R4798:Myh6	UTSW	14	54953293	missense	probably damaging	1.00
R4844:Myh6	UTSW	14	54947194	missense	possibly damaging	0.89
R4908:Myh6	UTSW	14	54956962	missense	probably damaging	1.00
R5256:Myh6	UTSW	14	54952661	missense	probably damaging	1.00
R5277:Myh6	UTSW	14	54956562	missense	probably benign	0.01
R5356:Myh6	UTSW	14	54953762	missense	probably damaging	1.00
R5433:Myh6	UTSW	14	54953924	missense	probably benign	0.32
R5616:Myh6	UTSW	14	54956581	missense	probably benign	0.17
R5784:Myh6	UTSW	14	54953064	missense	possibly damaging	0.93
R5820:Myh6	UTSW	14	54958680	missense	probably damaging	0.99
R5835:Myh6	UTSW	14	54950407	missense	probably damaging	1.00
R5922:Myh6	UTSW	14	54946474	missense	probably damaging	0.99
R5975:Myh6	UTSW	14	54950508	missense	probably benign	0.31
R5988:Myh6	UTSW	14	54965394	missense	probably damaging	1.00
R6630:Myh6	UTSW	14	54942001	missense	probably benign	0.01
R6845:Myh6	UTSW	14	54944749	missense	probably benign
R7009:Myh6	UTSW	14	54952292	missense	probably damaging	0.99
R7154:Myh6	UTSW	14	54960307	missense	probably benign	0.43
R7293:Myh6	UTSW	14	54947174	missense	probably benign	0.00
R7313:Myh6	UTSW	14	54960270	missense	probably benign	0.00
R7339:Myh6	UTSW	14	54961568	splice site	probably null
R7348:Myh6	UTSW	14	54952259	missense	probably damaging	1.00
R7487:Myh6	UTSW	14	54953496	nonsense	probably null
R7680:Myh6	UTSW	14	54948733	missense	possibly damaging	0.88
R7726:Myh6	UTSW	14	54965365	missense	probably damaging	0.99
R7743:Myh6	UTSW	14	54957150	missense	probably damaging	0.99
R7807:Myh6	UTSW	14	54942440	missense	probably damaging	1.00
R7851:Myh6	UTSW	14	54953051	missense	possibly damaging	0.94
R8145:Myh6	UTSW	14	54953925	missense	probably benign	0.45
R8344:Myh6	UTSW	14	54953434	missense	probably damaging	0.99
R8407:Myh6	UTSW	14	54963931	missense	probably benign	0.13
R8415:Myh6	UTSW	14	54944378	missense	probably damaging	0.98
R8782:Myh6	UTSW	14	54949900	missense	possibly damaging	0.76
R9034:Myh6	UTSW	14	54948139	missense	possibly damaging	0.47
R9354:Myh6	UTSW	14	54963535	missense	probably damaging	0.99
Z1088:Myh6	UTSW	14	54956997	missense	probably damaging	1.00

Posted On

2015-04-16