Mutagenetix > Incidental Mutations

Incidental Mutation 'R7025:Myh7'

545926

Institutional Source

Beutler Lab

Gene Symbol

Myh7

Ensembl Gene

ENSMUSG00000053093

Gene Name

myosin, heavy polypeptide 7, cardiac muscle, beta

Synonyms

Myhcb, Myhc-b, MyHC-I, B-MHC, MYH-beta/slow, beta-MHC

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R7025 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54970684-54994626 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 54974644 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1548 (E1548*)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085949] [ENSMUST00000102803] [ENSMUST00000168485]

Predicted Effect

probably benign
Transcript: ENSMUST00000085949

Predicted Effect

probably null
Transcript: ENSMUST00000102803
AA Change: E1548*

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: E1548*

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Myosin_N	34	73	3.8e-16	PFAM
MYSc	79	779	N/A	SMART
IQ	780	802	2.5e-2	SMART
Pfam:Myosin_tail_1	843	1924	5.6e-168	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000168485
AA Change: E1548*

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: E1548*

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Myosin_N	34	75	1.6e-17	PFAM
MYSc	79	779	N/A	SMART
IQ	780	802	2.5e-2	SMART
PDB:2FXO\|D	838	963	6e-53	PDB
Pfam:Myosin_tail_1	1068	1926	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muscle myosin is a hexameric protein containing 2 heavy chain subunits, 2 alkali light chain subunits, and 2 regulatory light chain subunits. This gene encodes the beta (or slow) heavy chain subunit of cardiac myosin. It is expressed predominantly in normal human ventricle. It is also expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein and the alpha (or fast) heavy subunit of cardiac myosin correlate with the contractile velocity of cardiac muscle. Its expression is also altered during thyroid hormone depletion and hemodynamic overloading. Mutations in this gene are associated with familial hypertrophic cardiomyopathy, myosin storage myopathy, dilated cardiomyopathy, and Laing early-onset distal myopathy. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd4	T	A	11: 103,104,538	L90M	probably damaging	Het
Acot7	T	C	4: 152,178,189	S7P	unknown	Het
Ahcyl2	T	C	6: 29,908,421	Y388H	probably damaging	Het
Atp1a2	T	A	1: 172,284,550	R593*	probably null	Het
Bicral	T	C	17: 46,801,668	T869A	probably benign	Het
Brca2	C	T	5: 150,540,478	P1236S	probably benign	Het
Cacna2d1	C	T	5: 16,352,668	Q699*	probably null	Het
Ccser2	T	C	14: 36,940,007	N407D	probably damaging	Het
Cd300lg	A	G	11: 102,043,074	Y49C	probably damaging	Het
Cdh12	C	A	15: 21,358,814	T108K	probably damaging	Het
Ctnnd1	A	T	2: 84,610,606	I715K	possibly damaging	Het
Cyp17a1	T	A	19: 46,670,980	D137V	probably damaging	Het
Dbr1	A	G	9: 99,575,983	T19A	probably damaging	Het
Dnah3	C	T	7: 120,030,010	A1441T	possibly damaging	Het
Dpt	G	A	1: 164,796,939	D70N	probably damaging	Het
Elk4	C	A	1: 132,019,369	P366Q	probably damaging	Het
Eml4	A	C	17: 83,425,311	D131A	probably benign	Het
Faap24	A	G	7: 35,392,871	I207T	possibly damaging	Het
Fam198b	T	C	3: 79,886,548	Y108H	probably damaging	Het
Fam219a	T	C	4: 41,521,925	S41G	probably benign	Het
Gm15448	T	A	7: 3,821,262	K629*	probably null	Het
Ifi203	T	C	1: 173,928,385		probably benign	Het
Inpp4a	T	C	1: 37,369,423	V295A	probably benign	Het
Kif2a	A	G	13: 106,982,594	Y267H	probably damaging	Het
Kprp	T	A	3: 92,825,197	Q182L	probably benign	Het
Krt90	T	C	15: 101,557,175	K337R	possibly damaging	Het
Lrp2	T	A	2: 69,483,028	Y2453F	possibly damaging	Het
Magel2	A	C	7: 62,379,787	Y813S	unknown	Het
Myh8	A	G	11: 67,297,539	T1009A	probably benign	Het
Nab2	T	A	10: 127,666,508		probably benign	Het
Neb	T	C	2: 52,296,273	D929G	possibly damaging	Het
Nelfb	A	C	2: 25,210,493	V155G	probably damaging	Het
Nmur1	C	A	1: 86,387,848	M65I	possibly damaging	Het
Nop56	C	T	2: 130,277,881	R81*	probably null	Het
Npnt	C	T	3: 132,908,396	C47Y	probably damaging	Het
Nrp1	G	T	8: 128,480,954	C610F	probably damaging	Het
Olfr1175-ps	T	C	2: 88,323,262	K148E	probably damaging	Het
Olfr1243	T	A	2: 89,527,604	I269F	probably damaging	Het
Olfr766-ps1	T	A	10: 129,064,675	M1L	probably benign	Het
Pax5	G	A	4: 44,679,501	Q93*	probably null	Het
Pcnt	G	T	10: 76,403,835	Q1273K	probably damaging	Het
Pde4dip	G	A	3: 97,724,183	Q1137*	probably null	Het
Pfas	A	T	11: 68,990,760	D959E	probably benign	Het
Prex1	TCCGACCCC	TCCGACCCCGACCCC	2: 166,613,187		probably benign	Het
Prpf40b	C	T	15: 99,306,400	Q182*	probably null	Het
Ptk2	G	A	15: 73,221,809	P854S	possibly damaging	Het
Rpe65	A	C	3: 159,622,685	E406A	probably damaging	Het
Serpina3k	A	T	12: 104,341,142	Y211F	probably benign	Het
Shkbp1	T	C	7: 27,355,281	I65V	possibly damaging	Het
Slc22a29	G	A	19: 8,160,580	P544S	probably benign	Het
Stab2	T	C	10: 86,850,837	D2281G	probably damaging	Het
Tjp2	A	G	19: 24,132,688	M64T	probably benign	Het
Tnfrsf8	C	T	4: 145,274,403	V378I	possibly damaging	Het
Trpm1	A	T	7: 64,226,714		probably null	Het
Ubqln3	A	G	7: 104,141,275	I536T	probably benign	Het
Vmn1r44	A	G	6: 89,893,754	T161A	possibly damaging	Het
Vmn2r108	T	A	17: 20,471,083	I393F	possibly damaging	Het

Other mutations in Myh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Myh7	APN	14	54987388	missense	probably damaging	1.00
IGL01025:Myh7	APN	14	54979537	missense	probably damaging	1.00
IGL01092:Myh7	APN	14	54971632	missense	possibly damaging	0.91
IGL01384:Myh7	APN	14	54971459	missense	probably damaging	1.00
IGL01457:Myh7	APN	14	54988879	missense	possibly damaging	0.66
IGL01671:Myh7	APN	14	54972924	missense	probably damaging	1.00
IGL01923:Myh7	APN	14	54985459	critical splice donor site	probably null
IGL02183:Myh7	APN	14	54974731	missense	probably benign
IGL02379:Myh7	APN	14	54979468	missense	probably damaging	1.00
IGL02884:Myh7	APN	14	54992819	missense	probably benign	0.26
IGL02898:Myh7	APN	14	54983740	missense	probably damaging	1.00
IGL03027:Myh7	APN	14	54983550	missense	probably damaging	1.00
IGL03061:Myh7	APN	14	54991204	unclassified	probably benign
IGL03145:Myh7	APN	14	54983345	missense	probably damaging	1.00
IGL03250:Myh7	APN	14	54992247	missense	probably damaging	1.00
IGL03394:Myh7	APN	14	54975361	missense	probably damaging	1.00
BB008:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
BB018:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
R0019:Myh7	UTSW	14	54983734	missense	possibly damaging	0.91
R0030:Myh7	UTSW	14	54991970	missense	probably benign	0.00
R0183:Myh7	UTSW	14	54978876	missense	probably benign	0.02
R0230:Myh7	UTSW	14	54973933	missense	probably benign	0.03
R0295:Myh7	UTSW	14	54984821	splice site	probably benign
R0423:Myh7	UTSW	14	54979189	missense	probably benign	0.06
R0537:Myh7	UTSW	14	54990799	missense	possibly damaging	0.81
R0541:Myh7	UTSW	14	54974701	missense	probably benign
R0581:Myh7	UTSW	14	54985496	missense	probably benign	0.02
R0786:Myh7	UTSW	14	54992873	start codon destroyed	probably null
R0866:Myh7	UTSW	14	54973139	missense	probably benign
R1068:Myh7	UTSW	14	54987319	missense	possibly damaging	0.93
R1075:Myh7	UTSW	14	54987403	missense	probably benign
R1124:Myh7	UTSW	14	54973870	missense	possibly damaging	0.78
R1140:Myh7	UTSW	14	54972882	missense	probably damaging	1.00
R1260:Myh7	UTSW	14	54988451	missense	probably benign	0.00
R1653:Myh7	UTSW	14	54990789	missense	probably benign	0.00
R1677:Myh7	UTSW	14	54987516	missense	probably benign	0.17
R1760:Myh7	UTSW	14	54972713	missense	probably damaging	1.00
R1838:Myh7	UTSW	14	54973180	missense	possibly damaging	0.91
R1839:Myh7	UTSW	14	54973180	missense	possibly damaging	0.91
R2483:Myh7	UTSW	14	54973381	missense	probably damaging	0.99
R2566:Myh7	UTSW	14	54983242	missense	probably damaging	1.00
R3623:Myh7	UTSW	14	54973381	missense	probably damaging	0.99
R3916:Myh7	UTSW	14	54974046	missense	probably damaging	0.97
R4236:Myh7	UTSW	14	54991118	missense	probably benign	0.34
R4471:Myh7	UTSW	14	54991854	nonsense	probably null
R4700:Myh7	UTSW	14	54988321	missense	possibly damaging	0.85
R4805:Myh7	UTSW	14	54985133	missense	probably benign	0.27
R4880:Myh7	UTSW	14	54978588	missense	probably benign	0.18
R4975:Myh7	UTSW	14	54971671	missense	probably damaging	1.00
R4982:Myh7	UTSW	14	54972767	missense	probably damaging	0.98
R5004:Myh7	UTSW	14	54971683	missense	probably damaging	0.99
R5107:Myh7	UTSW	14	54986424	intron	probably benign
R5124:Myh7	UTSW	14	54985742	nonsense	probably null
R5256:Myh7	UTSW	14	54979508	missense	probably damaging	1.00
R5335:Myh7	UTSW	14	54986563	intron	probably benign
R5581:Myh7	UTSW	14	54978954	missense	probably benign	0.00
R5861:Myh7	UTSW	14	54988890	missense	possibly damaging	0.89
R5957:Myh7	UTSW	14	54989078	missense	probably damaging	1.00
R6027:Myh7	UTSW	14	54970802	missense	probably benign	0.01
R6184:Myh7	UTSW	14	54988858	missense	probably damaging	1.00
R6232:Myh7	UTSW	14	54989296	missense	probably benign	0.00
R6268:Myh7	UTSW	14	54989284	missense	probably benign	0.00
R6274:Myh7	UTSW	14	54979486	missense	probably damaging	0.97
R6345:Myh7	UTSW	14	54983692	missense	probably damaging	1.00
R6383:Myh7	UTSW	14	54988894	missense	probably benign	0.00
R6641:Myh7	UTSW	14	54982280	missense	probably benign	0.37
R6755:Myh7	UTSW	14	54992313	missense	possibly damaging	0.71
R6952:Myh7	UTSW	14	54991740	missense	probably damaging	1.00
R7201:Myh7	UTSW	14	54990945	missense	possibly damaging	0.58
R7257:Myh7	UTSW	14	54972490	splice site	probably null
R7296:Myh7	UTSW	14	54990025	missense	probably benign	0.05
R7709:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7710:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7711:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7712:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7817:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7858:Myh7	UTSW	14	54990043	missense	probably benign	0.09
R7869:Myh7	UTSW	14	54989073	missense	probably damaging	0.99
R7870:Myh7	UTSW	14	54988801	missense	probably damaging	1.00
R7887:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
R7931:Myh7	UTSW	14	54983662	missense	possibly damaging	0.79
R7936:Myh7	UTSW	14	54979463	missense	possibly damaging	0.93
R8056:Myh7	UTSW	14	54973319	nonsense	probably null
R8061:Myh7	UTSW	14	54990941	missense	probably benign
R8101:Myh7	UTSW	14	54973319	nonsense	probably null
R8202:Myh7	UTSW	14	54990040	missense	probably benign
R8504:Myh7	UTSW	14	54990329	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGTGACCTTGAACTCATCTGAC -3'
(R):5'- TGTCCCCATCTCCAATAGCAG -3'

Sequencing Primer
(F):5'- GACCTTGAACTCATCTGACATTGAC -3'
(R):5'- TCTCCAATAGCAGTCCAGGG -3'

Posted On

2019-05-13