Mutagenetix > Incidental Mutations

Incidental Mutation 'R5277:Myh6'

404017

Institutional Source

Beutler Lab

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

MMRRC Submission

042864-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54941921-54966927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54956562 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 790 (I790T)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000081857
AA Change: I790T

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

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: I790T

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: ENSMUST00000145322
AA Change: I790T

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

SMART Domains

Protein: ENSMUSP00000115326
Gene: ENSMUSG00000040752
AA Change: I790T

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	75	5.3e-17	PFAM
MYSc	79	781	N/A	SMART
IQ	782	804	1.15e-1	SMART
IQ	808	830	3.32e2	SMART
coiled coil region	842	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000226297
AA Change: I790T

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,994,648	T54A	probably damaging	Het
Ablim1	T	C	19: 57,155,261	R89G	probably damaging	Het
Bco1	T	A	8: 117,117,389		probably null	Het
Bhmt	A	T	13: 93,624,885	M185K	possibly damaging	Het
Camk2d	T	C	3: 126,684,741		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Dcaf6	A	G	1: 165,424,346	S70P	probably benign	Het
Dclre1a	C	T	19: 56,544,732	V477I	possibly damaging	Het
Dnah10	C	T	5: 124,828,137	P4021L	probably damaging	Het
Dusp10	A	G	1: 184,037,007	N57D	possibly damaging	Het
Fam13b	G	A	18: 34,462,190	R374C	probably benign	Het
Fyb2	G	A	4: 105,015,679	D686N	probably damaging	Het
Glra3	G	A	8: 55,991,207	M67I	possibly damaging	Het
Gm14325	G	A	2: 177,832,984	H102Y	possibly damaging	Het
Gm6180	A	G	8: 42,247,140		noncoding transcript	Het
Grin2c	A	G	11: 115,253,813	V629A	probably damaging	Het
Kif4-ps	A	T	12: 101,145,927		noncoding transcript	Het
Mc3r	T	C	2: 172,249,787	F310L	probably damaging	Het
Myh4	A	G	11: 67,252,354	D1036G	probably damaging	Het
Myo15	C	A	11: 60,477,114	Y233*	probably null	Het
Nckap5	A	T	1: 126,026,540	C758*	probably null	Het
Neurog3	T	A	10: 62,133,853	Y36N	probably damaging	Het
Nlrp4e	T	C	7: 23,321,438	L450P	probably benign	Het
Olfr607	A	T	7: 103,460,941	L84H	probably damaging	Het
Otog	A	G	7: 46,246,621	E170G	possibly damaging	Het
Ppp2r2b	G	T	18: 42,741,142	T41K	probably damaging	Het
Prmt5	A	T	14: 54,509,942	D459E	probably benign	Het
Ric8b	G	A	10: 84,947,652	V125M	probably damaging	Het
Rptor	A	G	11: 119,822,956	S4G	probably damaging	Het
Rslcan18	T	G	13: 67,098,434	E371D	probably benign	Het
Scaf11	A	T	15: 96,419,226	F819Y	probably damaging	Het
Sema6a	A	T	18: 47,276,544		probably benign	Het
Snx29	C	T	16: 11,399,824	T163I	possibly damaging	Het
Sphkap	T	C	1: 83,276,164	N1288S	probably benign	Het
Tmbim7	G	A	5: 3,673,192		probably null	Het
Tmem63c	T	A	12: 87,057,757		probably null	Het
Tmem69	A	G	4: 116,553,261	F171L	probably benign	Het
Urod	A	T	4: 116,990,285		probably benign	Het
Vmn1r37	A	T	6: 66,731,476	I29L	probably benign	Het
Vmn2r102	A	G	17: 19,694,131	T653A	possibly damaging	Het
Vmn2r75	A	C	7: 86,166,292	S121R	probably benign	Het
Vwde	T	C	6: 13,186,996	T831A	probably benign	Het
Wdr70	C	T	15: 7,976,984	W362*	probably null	Het
Zfat	A	G	15: 68,165,909	C906R	probably damaging	Het
Zfp7	T	C	15: 76,881,203	V32A	probably damaging	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
IGL02079:Myh6	APN	14	54950541	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
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
Z1088:Myh6	UTSW	14	54956997	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCCAGCCTTCTTAAATTCATC -3'
(R):5'- TCCCTGGGAGCTTACTGAAC -3'

Sequencing Primer
(F):5'- GCAGTAGACTCACTTGTCCAC -3'
(R):5'- GGGAGCTTACTGAACATTCTTCCAC -3'

Posted On

2016-07-22