Mutagenetix > Incidental Mutation

Incidental Mutation 'R5957:Myh7'

471242

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

043246-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R5957 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54970684-54994626 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 54989078 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 408 (N408T)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102803] [ENSMUST00000153783] [ENSMUST00000168485] [ENSMUST00000226424] [ENSMUST00000227518] [ENSMUST00000228837]

AlphaFold

Q91Z83

Predicted Effect

probably damaging
Transcript: ENSMUST00000102803
AA Change: N408T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: N408T

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: ENSMUST00000149852

Predicted Effect

probably benign
Transcript: ENSMUST00000153783

SMART Domains

Protein: ENSMUSP00000116595
Gene: ENSMUSG00000053093

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:Myosin_N	34	61	8.8e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000168485
AA Change: N408T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: N408T

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

probably benign
Transcript: ENSMUST00000226424

Predicted Effect

probably benign
Transcript: ENSMUST00000227518

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228715

Predicted Effect

probably benign
Transcript: ENSMUST00000228837

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.0%

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,070,161	T1704A	probably benign	Het
Adgrg7	T	A	16: 56,773,427	N142I	probably damaging	Het
Aldh18a1	A	T	19: 40,570,537	Y286*	probably null	Het
Armc4	T	C	18: 7,285,706	E219G	probably benign	Het
Arpp21	T	C	9: 112,185,686	T17A	probably benign	Het
Atp5s	T	C	12: 69,743,784	V185A	probably benign	Het
Bnip2	T	C	9: 69,999,238	I147T	probably damaging	Het
Ccr8	T	C	9: 120,093,827	Y3H	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Cul7	G	A	17: 46,657,757	G553S	probably damaging	Het
Cyp21a1	A	G	17: 34,803,176	I206T	probably benign	Het
Dennd4b	A	G	3: 90,270,965	D488G	probably damaging	Het
Dip2b	T	C	15: 100,209,694	L1195P	probably benign	Het
Dock5	T	A	14: 67,857,994	H77L	probably benign	Het
Fbxw13	C	T	9: 109,192,666		probably null	Het
Fmnl3	G	A	15: 99,325,910	R302W	probably damaging	Het
Gbf1	G	T	19: 46,246,221		probably null	Het
Gm12794	T	C	4: 101,941,701	F290L	probably benign	Het
Gm4846	T	C	1: 166,486,953	I374V	probably benign	Het
Gsk3b	C	A	16: 38,193,953	P258T	probably damaging	Het
Igsf5	T	C	16: 96,364,049	V8A	probably benign	Het
Il22	T	A	10: 118,205,166	L59Q	probably damaging	Het
Ildr1	T	C	16: 36,725,534	*517Q	probably null	Het
Iqca	T	A	1: 90,080,948	D450V	probably damaging	Het
Itga5	T	C	15: 103,351,429	D647G	probably benign	Het
Mylk3	T	C	8: 85,328,637	M564V	probably damaging	Het
Nsd2	T	A	5: 33,855,603	M407K	probably damaging	Het
Oprd1	C	T	4: 132,144,163	V75I	probably benign	Het
Poli	G	A	18: 70,517,440	H310Y	probably benign	Het
Ptch1	C	T	13: 63,525,115	R755H	probably damaging	Het
Pygl	A	T	12: 70,199,720	M351K	probably damaging	Het
Serpinb9b	T	C	13: 33,039,848	L341P	possibly damaging	Het
Slc47a1	A	G	11: 61,344,342	V555A	probably benign	Het
Slc8a2	C	A	7: 16,145,284	T565K	possibly damaging	Het
Snx14	T	C	9: 88,403,274	I446V	possibly damaging	Het
Syde1	T	C	10: 78,590,117	Y72C	probably damaging	Het
Trim37	C	T	11: 87,145,551	R138C	probably damaging	Het
Tubgcp5	T	A	7: 55,814,962	S530R	probably benign	Het
Vps13c	T	C	9: 67,954,971	S2957P	probably damaging	Het
Wdr41	T	C	13: 94,997,187		probably null	Het
Zyg11b	T	C	4: 108,245,013	K504E	probably 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
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
R9264:Myh7	UTSW	14	54975997	missense	probably benign	0.01
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'- TCTCCAGGGTTGCATTGATG -3'
(R):5'- AAGAAAGCCGTGGAGTCACC -3'

Sequencing Primer
(F):5'- ATTGATGCGTGTCACCATCCAG -3'
(R):5'- TCACCGAGGGCCATGTCTG -3'

Posted On

2017-03-31