Mutagenetix > Incidental Mutations

Incidental Mutation 'R2033:Myh6'

221538

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

040040-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R2033 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54941921-54966927 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 54963645 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 120 (L120R)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081857] [ENSMUST00000111456] [ENSMUST00000124930] [ENSMUST00000226297]

Predicted Effect

probably benign
Transcript: ENSMUST00000081857
AA Change: L120R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: L120R

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

probably benign
Transcript: ENSMUST00000111456

SMART Domains

Protein: ENSMUSP00000107083
Gene: ENSMUSG00000040752

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	63	9.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124930

SMART Domains

Protein: ENSMUSP00000115615
Gene: ENSMUSG00000040752

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	34	75	1.2e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226297
AA Change: L120R

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Meta Mutation Damage Score

0.6246

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (53/55)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	T	C	4: 144,456,383	T172A	probably benign	Het
Atp6v1c1	T	C	15: 38,673,966		probably null	Het
Bpifc	G	A	10: 86,000,632	T3I	possibly damaging	Het
Car12	A	G	9: 66,717,558		probably null	Het
Ccrl2	A	G	9: 111,055,870	F187L	possibly damaging	Het
Cep250	G	A	2: 155,970,892	R544H	probably damaging	Het
Col4a3	T	G	1: 82,718,011		probably benign	Het
Cyb5r2	T	C	7: 107,756,907		probably null	Het
Elfn2	A	G	15: 78,671,896	V817A	probably damaging	Het
Eln	C	T	5: 134,710,106		probably null	Het
Eml5	T	C	12: 98,791,386	E1896G	possibly damaging	Het
G530012D18Rik	CACAGA	CA	1: 85,577,154		probably null	Het
Galnt11	C	T	5: 25,247,538	T16I	probably damaging	Het
Gars	C	T	6: 55,077,723	H672Y	probably benign	Het
Gpr155	T	A	2: 73,348,182	H726L	probably benign	Het
Inpp1	T	A	1: 52,790,173	N229I	possibly damaging	Het
Isg20	A	C	7: 78,916,533	I77L	probably damaging	Het
Kit	G	C	5: 75,637,317	D422H	possibly damaging	Het
Lonp2	A	G	8: 86,708,942	E602G	possibly damaging	Het
Mink1	T	C	11: 70,612,508	V1143A	probably damaging	Het
Myo18a	T	A	11: 77,843,099		probably null	Het
Nphs2	T	C	1: 156,323,738	V249A	probably damaging	Het
Npsr1	A	G	9: 24,313,352	K342E	probably benign	Het
Nrros	C	T	16: 32,144,157	W311*	probably null	Het
Nudt18	G	T	14: 70,579,616	G162V	possibly damaging	Het
Odam	A	G	5: 87,892,419	D248G	probably benign	Het
Olfr1224-ps1	A	G	2: 89,157,154	V7A	probably damaging	Het
Olfr147	G	T	9: 38,403,373	M166I	probably damaging	Het
Olfr390	T	C	11: 73,787,438	S167P	probably benign	Het
Olfr557	A	G	7: 102,699,162	E308G	probably benign	Het
Olfr572	T	C	7: 102,928,408	V260A	probably benign	Het
Pde4b	G	T	4: 102,605,295	D723Y	probably benign	Het
Pdzrn3	T	C	6: 101,150,954	E917G	probably damaging	Het
Ppip5k1	C	T	2: 121,337,627	R715H	probably damaging	Het
Prkdc	T	A	16: 15,687,352		probably benign	Het
Ptp4a3	A	G	15: 73,753,769	Y21C	probably damaging	Het
Ptprk	C	A	10: 28,592,767		probably benign	Het
Rfesd	C	A	13: 76,002,872		probably null	Het
Rtel1	A	T	2: 181,351,863	K592*	probably null	Het
Siah1a	T	A	8: 86,725,270	K195N	probably damaging	Het
Slc5a5	G	T	8: 70,888,587	D369E	probably damaging	Het
Slc6a6	A	T	6: 91,724,910	I100F	probably benign	Het
Smtn	T	C	11: 3,517,781	I913V	probably benign	Het
Stk17b	A	G	1: 53,761,076	S248P	probably damaging	Het
Sun1	C	T	5: 139,225,438	H149Y	probably damaging	Het
Taar5	T	C	10: 23,971,094	I130T	possibly damaging	Het
Tmem132b	G	T	5: 125,749,289	V448F	probably damaging	Het
Tmem94	C	A	11: 115,794,328	N888K	possibly damaging	Het
Trpc1	T	C	9: 95,706,843	N742S	probably damaging	Het
Ttbk2	T	C	2: 120,806,849	T112A	probably damaging	Het
Tubb2a	A	T	13: 34,075,456	L117Q	probably damaging	Het
Vmn1r60	T	A	7: 5,544,820	M94L	probably benign	Het
Vmn2r83	A	G	10: 79,491,819	T754A	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
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
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	intron	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
Z1088:Myh6	UTSW	14	54956997	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGAGTCCAGGTGAGAATTCAGG -3'
(R):5'- TAGAGGCCTATACGGGTCAG -3'

Sequencing Primer
(F):5'- TCCAGGTGAGAATTCAGGTTGAG -3'
(R):5'- CCTATACGGGTCAGTGGACTC -3'

Posted On

2014-08-25