Mutagenetix > Incidental Mutation

Incidental Mutation 'R0360:Myh6'

65689

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

038566-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0360 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54941921-54966927 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 54948347 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1490 (Y1490*)

Ref Sequence

ENSEMBL: ENSMUSP00000154634 (fasta)

Gene Model

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

AlphaFold

Q02566

Predicted Effect

probably null
Transcript: ENSMUST00000081857
AA Change: Y1490*

SMART Domains

Protein: ENSMUSP00000080538
Gene: ENSMUSG00000040752
AA Change: Y1490*

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 null
Transcript: ENSMUST00000226297
AA Change: Y1490*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227905

Predicted Effect

probably benign
Transcript: ENSMUST00000228731

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

98% (93/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,611,128		probably benign	Het
Adcyap1r1	G	T	6: 55,475,523		probably benign	Het
Ankrd6	T	C	4: 32,836,424	T44A	probably damaging	Het
Ano7	A	G	1: 93,388,658	D221G	probably benign	Het
Bhlhe40	C	A	6: 108,664,750	N218K	probably damaging	Het
Bms1	A	G	6: 118,405,290	V429A	probably benign	Het
C7	T	A	15: 4,988,962	T800S	probably benign	Het
Camta2	G	A	11: 70,683,310	T127I	probably damaging	Het
Ccdc13	T	A	9: 121,798,216	N665I	probably damaging	Het
Ccdc157	T	C	11: 4,146,663	E362G	probably damaging	Het
Ccdc73	T	A	2: 104,981,007	N310K	probably damaging	Het
Cmklr1	A	T	5: 113,614,517	L141H	probably damaging	Het
Cnst	C	A	1: 179,579,535	A49E	probably benign	Het
Col5a3	C	T	9: 20,772,466	R1498Q	unknown	Het
Crybb3	T	A	5: 113,075,953	I197F	probably damaging	Het
Cryzl1	G	A	16: 91,707,267	P97S	probably benign	Het
Cubn	T	C	2: 13,310,507		probably benign	Het
Cyp2d37-ps	T	C	15: 82,690,052		noncoding transcript	Het
Cyp4a12b	C	A	4: 115,432,920	N223K	probably benign	Het
D16Ertd472e	A	T	16: 78,547,885	C112S	probably benign	Het
Dennd2a	T	C	6: 39,508,299	T349A	probably benign	Het
Dock5	G	A	14: 67,822,680		probably benign	Het
Dpp6	T	C	5: 27,652,269	L404P	probably damaging	Het
Dsc3	T	A	18: 19,971,582	T563S	possibly damaging	Het
Dync2h1	T	A	9: 7,113,182	E214D	possibly damaging	Het
Elac2	A	G	11: 64,979,310	Y67C	probably damaging	Het
Elmo1	A	T	13: 20,564,493	K503*	probably null	Het
Eng	T	C	2: 32,679,137	S559P	probably benign	Het
Epc2	T	A	2: 49,537,133	V563E	possibly damaging	Het
Fancm	A	G	12: 65,075,950	Y82C	probably damaging	Het
Flt4	A	T	11: 49,636,991	M924L	probably benign	Het
Gabpa	T	A	16: 84,857,387	N317K	possibly damaging	Het
Gchfr	T	G	2: 119,167,846	Y3*	probably null	Het
Gli3	G	T	13: 15,724,764	G912V	probably benign	Het
Gm10295	C	A	7: 71,350,613	C73F	unknown	Het
Gm10382	G	T	5: 125,389,664		probably benign	Het
Gm6614	A	C	6: 141,982,327		probably benign	Het
Gp1ba	T	C	11: 70,640,458		probably benign	Het
Gpr146	G	A	5: 139,379,178		probably benign	Het
Hexdc	T	A	11: 121,212,143	H62Q	probably benign	Het
Hgd	T	A	16: 37,611,184		probably benign	Het
Hs6st1	G	A	1: 36,069,185		probably null	Het
Icam4	A	G	9: 21,029,821	Y123C	probably damaging	Het
Il24	A	G	1: 130,883,937	V134A	probably damaging	Het
Iqcb1	G	T	16: 36,872,308	A562S	probably damaging	Het
Iqgap2	A	C	13: 95,731,275		probably benign	Het
Islr2	T	C	9: 58,199,744	T78A	possibly damaging	Het
Kif1b	A	G	4: 149,262,729	I330T	probably damaging	Het
Kirrel	T	C	3: 87,089,799	Y287C	probably damaging	Het
Klf10	C	T	15: 38,296,846	V317M	probably benign	Het
Klhl9	T	G	4: 88,720,290	K571N	probably benign	Het
Lin37	T	C	7: 30,557,013	I97V	possibly damaging	Het
Lrrc37a	C	T	11: 103,500,640	V1320I	possibly damaging	Het
Lrrc74a	A	G	12: 86,737,795	H99R	probably damaging	Het
Maats1	T	A	16: 38,298,297		probably null	Het
Me3	T	A	7: 89,786,414		probably null	Het
Med13	T	C	11: 86,329,161		probably benign	Het
Myo10	T	C	15: 25,804,368	L1583P	probably damaging	Het
Nkx6-3	A	G	8: 23,157,706	E227G	possibly damaging	Het
Nlrp1a	T	A	11: 71,114,004		probably benign	Het
Nlrp5-ps	A	C	7: 14,583,091		noncoding transcript	Het
Nup188	T	G	2: 30,326,479	I765S	probably null	Het
Obscn	G	A	11: 59,128,281	A969V	probably benign	Het
Olfr1080	A	T	2: 86,553,779	L115Q	probably damaging	Het
Olfr348	T	A	2: 36,787,440	M305K	probably benign	Het
Olfr76	G	T	19: 12,119,853	D286E	possibly damaging	Het
Olfr96	T	C	17: 37,226,043	L306P	possibly damaging	Het
Otogl	T	A	10: 107,770,650		probably benign	Het
Pcnx3	G	A	19: 5,665,583	R1472W	probably damaging	Het
Plekha5	G	A	6: 140,591,747	R646K	possibly damaging	Het
Plscr4	T	A	9: 92,488,761		probably benign	Het
Pon2	G	A	6: 5,266,156	Q288*	probably null	Het
Ptpn13	C	A	5: 103,533,348	R805S	probably damaging	Het
Pyroxd2	A	T	19: 42,747,553	V62D	probably damaging	Het
Rab37	G	T	11: 115,156,964	C44F	probably damaging	Het
Rbm44	T	C	1: 91,152,347	S52P	probably benign	Het
Rgl3	A	G	9: 21,976,857	W454R	probably damaging	Het
Rita1	A	G	5: 120,609,772	S154P	probably benign	Het
Scn5a	T	C	9: 119,522,599	D772G	probably damaging	Het
Sec23ip	G	A	7: 128,761,405		probably benign	Het
Slc23a1	T	A	18: 35,622,979		probably benign	Het
Sparcl1	T	A	5: 104,089,637	D444V	probably damaging	Het
Taar6	C	A	10: 23,985,148	V167L	probably benign	Het
Tmcc3	T	A	10: 94,578,545	N36K	probably benign	Het
Tmem200c	T	A	17: 68,840,548	V42E	probably damaging	Het
Trhde	T	C	10: 114,502,982		probably benign	Het
Tshz3	A	G	7: 36,770,533	E649G	probably benign	Het
Utp4	T	C	8: 106,898,537		probably benign	Het
Vmn1r30	A	G	6: 58,435,277	V190A	probably benign	Het
Vmn1r35	A	G	6: 66,678,843	I281T	probably damaging	Het
Vmn1r58	G	T	7: 5,410,330	H300Q	probably benign	Het
Vmn1r84	A	G	7: 12,361,872	L286P	probably damaging	Het
Vmn2r54	A	T	7: 12,615,649	C669S	probably damaging	Het
Wdr61	A	T	9: 54,727,578		probably benign	Het
Zfp623	T	C	15: 75,948,661	S489P	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
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
R9441:Myh6	UTSW	14	54960314	missense	probably benign	0.02
R9449:Myh6	UTSW	14	54952322	missense	possibly damaging	0.50
R9485:Myh6	UTSW	14	54944345	missense	probably benign	0.01
R9612:Myh6	UTSW	14	54963597	missense	probably benign	0.09
R9738:Myh6	UTSW	14	54952302	missense	probably benign	0.03
R9742:Myh6	UTSW	14	54956599	missense	probably benign
R9749:Myh6	UTSW	14	54953486	missense	probably damaging	0.99
Z1088:Myh6	UTSW	14	54956997	missense	probably damaging	1.00

Predicted Primers

Posted On

2013-08-08