Mutagenetix > Incidental Mutation

Incidental Mutation 'R9264:Myh7'

702444

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

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R9264 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54970684-54994626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54975997 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1351 (T1351A)

Ref Sequence

ENSEMBL: ENSMUSP00000099867 (fasta)

Gene Model

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

AlphaFold

Q91Z83

Predicted Effect

probably benign
Transcript: ENSMUST00000085949

Predicted Effect

probably benign
Transcript: ENSMUST00000102803
AA Change: T1351A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: T1351A

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 benign
Transcript: ENSMUST00000168485
AA Change: T1351A

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: T1351A

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (58/58)

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
1700017D01Rik	T	A	19: 11,116,466	M1L	probably benign	Het
Abca15	A	T	7: 120,401,833	I1531L	probably benign	Het
Adam28	T	C	14: 68,607,465	Y791C	probably benign	Het
Ankrd40	T	A	11: 94,338,361	I262N	probably damaging	Het
BC067074	G	A	13: 113,319,480	V687M		Het
Catsperg2	A	T	7: 29,698,188	N1033K	possibly damaging	Het
Cdh10	A	T	15: 18,963,995	D81V	probably damaging	Het
Cep290	T	C	10: 100,498,016	V310A	possibly damaging	Het
Cep78	T	C	19: 15,974,466	Y325C	probably damaging	Het
Clstn3	T	A	6: 124,459,768	D197V	probably damaging	Het
Col11a1	T	C	3: 114,212,160	I1647T	unknown	Het
Col5a1	G	A	2: 27,964,111	R569K	unknown	Het
Cyp4a10	T	C	4: 115,524,278	S180P	probably benign	Het
D630045J12Rik	T	C	6: 38,158,238	I1336V	probably benign	Het
Dchs2	G	A	3: 83,270,477	V946M	probably damaging	Het
Dnah10	A	G	5: 124,736,836	R347G	probably damaging	Het
Dnah11	T	A	12: 118,027,527	D2368V	probably damaging	Het
Ganab	T	C	19: 8,912,864	I719T	possibly damaging	Het
Gm10944	C	A	10: 10,681,839	A11D	unknown	Het
Gmcl1	T	C	6: 86,714,213	M267V	probably benign	Het
Inhbe	T	A	10: 127,350,558	D251V	probably damaging	Het
Kcnj1	G	A	9: 32,396,358	R26Q	probably benign	Het
Lama5	A	G	2: 180,196,478		probably benign	Het
Lin9	T	A	1: 180,667,347	D251E	probably damaging	Het
Magel2	T	A	7: 62,378,596	I416N	possibly damaging	Het
Mdga2	T	C	12: 66,513,283	N772S	probably damaging	Het
Msh3	G	T	13: 92,349,304	Q171K	probably benign	Het
Mslnl	T	G	17: 25,742,532		probably benign	Het
Mtpn	A	G	6: 35,512,241	L116P	possibly damaging	Het
Nectin3	A	T	16: 46,454,635	I353N	probably damaging	Het
Nprl3	A	T	11: 32,233,948	N500K	probably benign	Het
Nup93	T	A	8: 94,292,720	I181N	probably benign	Het
Olfr1198	T	C	2: 88,746,432	H152R	probably damaging	Het
Olfr362	G	A	2: 37,104,789	T287I	probably damaging	Het
Optc	T	C	1: 133,905,240	I41V	probably benign	Het
Pcdh7	C	A	5: 58,129,321	N1246K	probably benign	Het
Pcdhb3	T	A	18: 37,302,113	D377E	probably benign	Het
Pnpla6	C	T	8: 3,523,294	P386L	probably benign	Het
Polr3a	T	C	14: 24,470,831	T587A	probably benign	Het
Pramel1	T	G	4: 143,398,529	L341R	probably damaging	Het
Rhot2	A	T	17: 25,841,766	N210K	probably damaging	Het
Slc37a1	A	G	17: 31,300,485	I12V	probably benign	Het
Spata48	T	A	11: 11,464,678	D141E		Het
Sstr3	G	T	15: 78,539,592	N318K	probably damaging	Het
Ssx2ip	T	C	3: 146,437,200	V511A	probably benign	Het
Stfa1	G	A	16: 36,280,568	V57I	unknown	Het
Syne1	T	G	10: 5,262,793	R3265S	probably damaging	Het
Tacc2	G	T	7: 130,626,803	K1739N	probably damaging	Het
Tas2r143	A	T	6: 42,400,739	M168L	probably benign	Het
Tm4sf1	A	T	3: 57,294,610		probably null	Het
Ttc16	A	G	2: 32,763,005	I604T	possibly damaging	Het
Ugt1a10	T	A	1: 88,055,671	W64R	possibly damaging	Het
Usp34	A	T	11: 23,489,064	H3561L		Het
Vasp	C	T	7: 19,259,451	V276I	unknown	Het
Vwa3a	A	G	7: 120,775,464	N333S	probably benign	Het
Wipf3	A	G	6: 54,483,881	N105D	probably benign	Het
Zfp760	T	C	17: 21,723,682	S613P	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
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
R8560:Myh7	UTSW	14	54975948	missense	possibly damaging	0.93
R8843:Myh7	UTSW	14	54975295	missense	probably damaging	0.98
R8903:Myh7	UTSW	14	54992771	nonsense	probably null
R8926:Myh7	UTSW	14	54985076	missense	probably benign	0.33
R8936:Myh7	UTSW	14	54990983	missense	probably benign	0.00
R9182:Myh7	UTSW	14	54988917	missense	probably damaging	1.00
R9260:Myh7	UTSW	14	54987385	missense	probably damaging	0.99
R9288:Myh7	UTSW	14	54985475	missense	probably benign	0.35
R9362:Myh7	UTSW	14	54985475	missense	probably benign	0.00
R9497:Myh7	UTSW	14	54980384	missense	probably benign	0.12
R9561:Myh7	UTSW	14	54978689	missense	probably damaging	1.00
R9663:Myh7	UTSW	14	54983641	missense	probably damaging	1.00
R9789:Myh7	UTSW	14	54991927	missense	possibly damaging	0.87
Z1192:Myh7	UTSW	14	54983291	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTCTGTGTGGACTACTGAGCATC -3'
(R):5'- TTTAGGGTCATTCTTGCTCAGC -3'

Sequencing Primer
(F):5'- TGAGCATCAGACTGGGCTG -3'
(R):5'- GCAAACCACACCGGGTTCG -3'

Posted On

2022-03-25