Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02183:Myh7'

284304

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.866) question?

Stock #

IGL02183

Quality Score

Status

Chromosome

Chromosomal Location

54970684-54994626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54974731 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1519 (T1519S)

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 benign
Transcript: ENSMUST00000102803
AA Change: T1519S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: T1519S

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

noncoding transcript
Transcript: ENSMUST00000104735

Predicted Effect

probably benign
Transcript: ENSMUST00000168485
AA Change: T1519S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: T1519S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181782

SMART Domains

Protein: ENSMUSP00000137786
Gene: ENSMUSG00000097652

Domain	Start	End	E-Value	Type
low complexity region	22	34	N/A	INTRINSIC
low complexity region	44	94	N/A	INTRINSIC
low complexity region	139	151	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000187147

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227401

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228715

Coding Region Coverage

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	G	A	1: 37,625,378	P480S	possibly damaging	Het
Ace2	T	A	X: 164,177,469		probably benign	Het
Acsm4	A	T	7: 119,693,852		probably null	Het
Apcdd1	T	C	18: 62,951,854	M374T	probably damaging	Het
Arid4b	A	G	13: 14,169,990	E551G	possibly damaging	Het
Bag4	A	T	8: 25,768,030	L423Q	probably damaging	Het
Celf1	C	T	2: 91,001,486	P96S	probably damaging	Het
Cry2	G	A	2: 92,413,039	R486W	probably damaging	Het
Csn1s1	G	A	5: 87,677,618	S228N	possibly damaging	Het
Ctnnd2	A	G	15: 31,020,740	Y1124C	probably damaging	Het
Cyp2j7	T	C	4: 96,230,147		probably benign	Het
Dock7	A	T	4: 98,958,991	C1695S	possibly damaging	Het
Elmo3	T	C	8: 105,308,323	L415P	probably benign	Het
Entpd5	A	G	12: 84,380,380		probably benign	Het
Gm7534	A	G	4: 134,201,980	L338S	probably benign	Het
Gpatch11	T	C	17: 78,842,231		probably null	Het
Gprin3	C	A	6: 59,353,162	R720I	possibly damaging	Het
Gria4	T	G	9: 4,502,460	T358P	probably damaging	Het
Hcn2	T	C	10: 79,724,813		probably null	Het
Hivep3	A	G	4: 120,132,024	T1891A	probably benign	Het
Hmgcr	A	G	13: 96,663,127	V153A	probably damaging	Het
Ifnar1	T	C	16: 91,505,146	V503A	possibly damaging	Het
Igf2r	G	A	17: 12,698,516		probably benign	Het
Ighg2b	A	G	12: 113,307,829	S35P	unknown	Het
Jmy	T	C	13: 93,499,242	D22G	possibly damaging	Het
Kdm5b	T	C	1: 134,624,931	I1215T	probably benign	Het
Krt84	T	C	15: 101,532,356	I134V	unknown	Het
Magi3	T	A	3: 104,085,347	M270L	probably benign	Het
Maneal	G	A	4: 124,860,416	T198I	probably benign	Het
Map7d3	A	G	X: 56,822,231		probably benign	Het
Myo5a	T	C	9: 75,167,236		probably benign	Het
Naip5	T	C	13: 100,221,642	S1029G	probably benign	Het
Olfr1162	T	C	2: 88,049,989	T212A	possibly damaging	Het
Olfr1205	A	T	2: 88,832,028	I304F	probably benign	Het
Olfr125	G	T	17: 37,835,413	C138F	probably damaging	Het
Olfr1279	T	A	2: 111,306,418	V71E	probably damaging	Het
Olfr178	T	A	16: 58,889,821	Q133L	probably benign	Het
Pald1	A	T	10: 61,347,141		probably benign	Het
Pan2	T	A	10: 128,309,075	H230Q	possibly damaging	Het
Pcdh9	T	C	14: 93,886,284	I817V	probably benign	Het
Piezo2	A	G	18: 63,020,634	S2547P	probably benign	Het
Ppargc1b	T	A	18: 61,309,096		probably null	Het
Prdm6	T	C	18: 53,464,677		probably benign	Het
Prr5l	A	T	2: 101,772,120		probably benign	Het
Rab3gap2	T	A	1: 185,271,468	L1020*	probably null	Het
Rhbdf1	T	C	11: 32,210,543	H669R	probably damaging	Het
Rnf150	A	T	8: 83,003,605	I255F	probably damaging	Het
Rnf17	T	A	14: 56,507,868	D1360E	probably null	Het
Sag	T	C	1: 87,828,475		probably null	Het
Scn2a	C	T	2: 65,671,603	T90I	probably benign	Het
Scn9a	T	A	2: 66,484,611		probably benign	Het
Serpinb13	T	C	1: 106,998,910	M212T	probably damaging	Het
Slc39a14	C	T	14: 70,306,685	G484E	possibly damaging	Het
Slco1a1	A	T	6: 141,921,943		probably benign	Het
Slitrk3	A	T	3: 73,049,979	Y487N	probably damaging	Het
Stkld1	T	C	2: 26,946,659	M279T	probably benign	Het
Tmem161b	T	C	13: 84,272,254	Y125H	probably damaging	Het
Tmem71	A	G	15: 66,555,025		probably benign	Het
Ubxn7	T	C	16: 32,369,383	F142L	probably damaging	Het
Vmn2r22	A	G	6: 123,638,004	L209P	probably damaging	Het
Wdr73	A	T	7: 80,893,760	W136R	probably damaging	Het
Wif1	C	T	10: 121,075,276	R107C	probably damaging	Het
Ythdf2	G	T	4: 132,205,574	L92M	probably benign	Het
Zfp53	T	A	17: 21,500,250	I34N	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
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
R7025:Myh7	UTSW	14	54974644	nonsense	probably null
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

Posted On

2015-04-16