Mutagenetix > Incidental Mutation

Incidental Mutation 'R0537:Myh7'

49518

Institutional Source

Beutler Lab

Gene Symbol

Myh7

Ensembl Gene

ENSMUSG00000053093

Gene Name

myosin, heavy polypeptide 7, cardiac muscle, beta

Synonyms

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

MMRRC Submission

038729-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R0537 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55208141-55232083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55228256 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 247 (F247L)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

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

AlphaFold

Q91Z83

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102803
AA Change: F247L

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: F247L

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

possibly damaging
Transcript: ENSMUST00000168485
AA Change: F247L

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: F247L

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

Meta Mutation Damage Score

0.6975

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.7%
20x: 93.9%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	T	14: 35,818,657 (GRCm39)	K218N	probably benign	Het
Acot11	T	C	4: 106,619,652 (GRCm39)	E156G	probably benign	Het
Arhgef28	A	T	13: 98,094,224 (GRCm39)	N973K	probably damaging	Het
B4galt3	T	C	1: 171,101,821 (GRCm39)		probably benign	Het
Bmpr1a	T	C	14: 34,165,769 (GRCm39)		probably benign	Het
Camkmt	A	T	17: 85,702,087 (GRCm39)	I184F	probably benign	Het
Ccdc33	T	C	9: 58,024,737 (GRCm39)	Y163C	probably damaging	Het
Ccdc9	A	G	7: 16,014,701 (GRCm39)		probably benign	Het
Dars2	A	T	1: 160,888,318 (GRCm39)	C201S	possibly damaging	Het
Dnajc1	A	T	2: 18,312,767 (GRCm39)	S194R	possibly damaging	Het
Dock8	A	G	19: 25,148,941 (GRCm39)	D1473G	probably benign	Het
Dpm2	T	A	2: 32,462,961 (GRCm39)		probably null	Het
Dsg4	T	C	18: 20,591,628 (GRCm39)	S456P	probably damaging	Het
Gys1	T	C	7: 45,089,425 (GRCm39)	S195P	probably damaging	Het
Heatr6	G	T	11: 83,670,290 (GRCm39)	E948*	probably null	Het
Itgal	G	A	7: 126,910,445 (GRCm39)	R518Q	possibly damaging	Het
Klhdc8b	G	C	9: 108,326,422 (GRCm39)	R158G	possibly damaging	Het
Klhl41	G	A	2: 69,500,554 (GRCm39)	R5Q	probably benign	Het
Lrrtm4	A	T	6: 79,999,103 (GRCm39)	T172S	probably benign	Het
Lypd1	A	G	1: 125,840,604 (GRCm39)		probably benign	Het
Mei1	T	C	15: 81,975,562 (GRCm39)	F121S	possibly damaging	Het
Mtor	C	T	4: 148,622,817 (GRCm39)	R1966W	probably damaging	Het
Nebl	G	T	2: 17,409,026 (GRCm39)	D392E	possibly damaging	Het
Notch2	C	A	3: 98,024,057 (GRCm39)	N840K	possibly damaging	Het
Nubp1	T	C	16: 10,240,678 (GRCm39)		probably benign	Het
Or5w16	A	T	2: 87,577,017 (GRCm39)	Q159L	probably benign	Het
Or7g19	T	C	9: 18,856,444 (GRCm39)	S167P	probably damaging	Het
Pcdh17	T	A	14: 84,684,897 (GRCm39)	S455T	probably damaging	Het
Picalm	C	A	7: 89,779,876 (GRCm39)	H32Q	probably benign	Het
Pold1	T	C	7: 44,184,516 (GRCm39)	E828G	probably damaging	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rala	A	T	13: 18,063,233 (GRCm39)	N119K	probably benign	Het
Rasal2	A	T	1: 156,975,362 (GRCm39)	V1149E	possibly damaging	Het
Rd3	A	G	1: 191,715,501 (GRCm39)	Y92C	probably damaging	Het
Rps18-ps6	A	T	13: 97,897,071 (GRCm39)	F9Y	probably benign	Het
Sart1	A	T	19: 5,431,752 (GRCm39)	D635E	probably damaging	Het
Sec16b	A	G	1: 157,365,116 (GRCm39)	T335A	possibly damaging	Het
Slc11a2	C	T	15: 100,303,679 (GRCm39)	G185R	probably damaging	Het
Slc2a12	G	A	10: 22,540,967 (GRCm39)	R274H	probably damaging	Het
Spag17	T	C	3: 100,032,618 (GRCm39)	V2276A	probably damaging	Het
Tcam1	G	A	11: 106,174,904 (GRCm39)	E120K	probably benign	Het
Tenm2	T	C	11: 36,054,557 (GRCm39)	D601G	probably damaging	Het
Tmem168	C	A	6: 13,603,360 (GRCm39)	C2F	probably damaging	Het
Tmem80	A	G	7: 140,913,609 (GRCm39)	Y13C	probably damaging	Het
Try4	T	A	6: 41,281,296 (GRCm39)	N79K	probably benign	Het
Vldlr	C	A	19: 27,225,318 (GRCm39)	N798K	probably damaging	Het
Wdr41	A	G	13: 95,131,813 (GRCm39)		probably benign	Het
Zfp30	A	T	7: 29,492,160 (GRCm39)	E138V	probably damaging	Het
Zfp366	A	C	13: 99,365,786 (GRCm39)	T316P	probably damaging	Het
Zfp563	A	T	17: 33,323,659 (GRCm39)	S85C	possibly damaging	Het
Znfx1	T	C	2: 166,883,621 (GRCm39)	H162R	probably damaging	Het

Other mutations in Myh7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00392:Myh7	APN	14	55,224,845 (GRCm39)	missense	probably damaging	1.00
IGL01025:Myh7	APN	14	55,216,994 (GRCm39)	missense	probably damaging	1.00
IGL01092:Myh7	APN	14	55,209,089 (GRCm39)	missense	possibly damaging	0.91
IGL01384:Myh7	APN	14	55,208,916 (GRCm39)	missense	probably damaging	1.00
IGL01457:Myh7	APN	14	55,226,336 (GRCm39)	missense	possibly damaging	0.66
IGL01671:Myh7	APN	14	55,210,381 (GRCm39)	missense	probably damaging	1.00
IGL01923:Myh7	APN	14	55,222,916 (GRCm39)	critical splice donor site	probably null
IGL02183:Myh7	APN	14	55,212,188 (GRCm39)	missense	probably benign
IGL02379:Myh7	APN	14	55,216,925 (GRCm39)	missense	probably damaging	1.00
IGL02884:Myh7	APN	14	55,230,276 (GRCm39)	missense	probably benign	0.26
IGL02898:Myh7	APN	14	55,221,197 (GRCm39)	missense	probably damaging	1.00
IGL03027:Myh7	APN	14	55,221,007 (GRCm39)	missense	probably damaging	1.00
IGL03061:Myh7	APN	14	55,228,661 (GRCm39)	unclassified	probably benign
IGL03145:Myh7	APN	14	55,220,802 (GRCm39)	missense	probably damaging	1.00
IGL03250:Myh7	APN	14	55,229,704 (GRCm39)	missense	probably damaging	1.00
IGL03394:Myh7	APN	14	55,212,818 (GRCm39)	missense	probably damaging	1.00
BB008:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
BB018:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
R0019:Myh7	UTSW	14	55,221,191 (GRCm39)	missense	possibly damaging	0.91
R0030:Myh7	UTSW	14	55,229,427 (GRCm39)	missense	probably benign	0.00
R0183:Myh7	UTSW	14	55,216,333 (GRCm39)	missense	probably benign	0.02
R0230:Myh7	UTSW	14	55,211,390 (GRCm39)	missense	probably benign	0.03
R0295:Myh7	UTSW	14	55,222,278 (GRCm39)	splice site	probably benign
R0423:Myh7	UTSW	14	55,216,646 (GRCm39)	missense	probably benign	0.06
R0541:Myh7	UTSW	14	55,212,158 (GRCm39)	missense	probably benign
R0581:Myh7	UTSW	14	55,222,953 (GRCm39)	missense	probably benign	0.02
R0786:Myh7	UTSW	14	55,230,330 (GRCm39)	start codon destroyed	probably null
R0866:Myh7	UTSW	14	55,210,596 (GRCm39)	missense	probably benign
R1068:Myh7	UTSW	14	55,224,776 (GRCm39)	missense	possibly damaging	0.93
R1075:Myh7	UTSW	14	55,224,860 (GRCm39)	missense	probably benign
R1124:Myh7	UTSW	14	55,211,327 (GRCm39)	missense	possibly damaging	0.78
R1140:Myh7	UTSW	14	55,210,339 (GRCm39)	missense	probably damaging	1.00
R1260:Myh7	UTSW	14	55,225,908 (GRCm39)	missense	probably benign	0.00
R1653:Myh7	UTSW	14	55,228,246 (GRCm39)	missense	probably benign	0.00
R1677:Myh7	UTSW	14	55,224,973 (GRCm39)	missense	probably benign	0.17
R1760:Myh7	UTSW	14	55,210,170 (GRCm39)	missense	probably damaging	1.00
R1838:Myh7	UTSW	14	55,210,637 (GRCm39)	missense	possibly damaging	0.91
R1839:Myh7	UTSW	14	55,210,637 (GRCm39)	missense	possibly damaging	0.91
R2483:Myh7	UTSW	14	55,210,838 (GRCm39)	missense	probably damaging	0.99
R2566:Myh7	UTSW	14	55,220,699 (GRCm39)	missense	probably damaging	1.00
R3623:Myh7	UTSW	14	55,210,838 (GRCm39)	missense	probably damaging	0.99
R3916:Myh7	UTSW	14	55,211,503 (GRCm39)	missense	probably damaging	0.97
R4236:Myh7	UTSW	14	55,228,575 (GRCm39)	missense	probably benign	0.34
R4471:Myh7	UTSW	14	55,229,311 (GRCm39)	nonsense	probably null
R4700:Myh7	UTSW	14	55,225,778 (GRCm39)	missense	possibly damaging	0.85
R4805:Myh7	UTSW	14	55,222,590 (GRCm39)	missense	probably benign	0.27
R4880:Myh7	UTSW	14	55,216,045 (GRCm39)	missense	probably benign	0.18
R4975:Myh7	UTSW	14	55,209,128 (GRCm39)	missense	probably damaging	1.00
R4982:Myh7	UTSW	14	55,210,224 (GRCm39)	missense	probably damaging	0.98
R5004:Myh7	UTSW	14	55,209,140 (GRCm39)	missense	probably damaging	0.99
R5107:Myh7	UTSW	14	55,223,881 (GRCm39)	intron	probably benign
R5124:Myh7	UTSW	14	55,223,199 (GRCm39)	nonsense	probably null
R5256:Myh7	UTSW	14	55,216,965 (GRCm39)	missense	probably damaging	1.00
R5335:Myh7	UTSW	14	55,224,020 (GRCm39)	intron	probably benign
R5581:Myh7	UTSW	14	55,216,411 (GRCm39)	missense	probably benign	0.00
R5861:Myh7	UTSW	14	55,226,347 (GRCm39)	missense	possibly damaging	0.89
R5957:Myh7	UTSW	14	55,226,535 (GRCm39)	missense	probably damaging	1.00
R6027:Myh7	UTSW	14	55,208,259 (GRCm39)	missense	probably benign	0.01
R6184:Myh7	UTSW	14	55,226,315 (GRCm39)	missense	probably damaging	1.00
R6232:Myh7	UTSW	14	55,226,753 (GRCm39)	missense	probably benign	0.00
R6268:Myh7	UTSW	14	55,226,741 (GRCm39)	missense	probably benign	0.00
R6274:Myh7	UTSW	14	55,216,943 (GRCm39)	missense	probably damaging	0.97
R6345:Myh7	UTSW	14	55,221,149 (GRCm39)	missense	probably damaging	1.00
R6383:Myh7	UTSW	14	55,226,351 (GRCm39)	missense	probably benign	0.00
R6641:Myh7	UTSW	14	55,219,737 (GRCm39)	missense	probably benign	0.37
R6755:Myh7	UTSW	14	55,229,770 (GRCm39)	missense	possibly damaging	0.71
R6952:Myh7	UTSW	14	55,229,197 (GRCm39)	missense	probably damaging	1.00
R7025:Myh7	UTSW	14	55,212,101 (GRCm39)	nonsense	probably null
R7201:Myh7	UTSW	14	55,228,402 (GRCm39)	missense	possibly damaging	0.58
R7257:Myh7	UTSW	14	55,209,947 (GRCm39)	splice site	probably null
R7296:Myh7	UTSW	14	55,227,482 (GRCm39)	missense	probably benign	0.05
R7709:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7710:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7711:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7712:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7817:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7858:Myh7	UTSW	14	55,227,500 (GRCm39)	missense	probably benign	0.09
R7869:Myh7	UTSW	14	55,226,530 (GRCm39)	missense	probably damaging	0.99
R7870:Myh7	UTSW	14	55,226,258 (GRCm39)	missense	probably damaging	1.00
R7887:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
R7931:Myh7	UTSW	14	55,221,119 (GRCm39)	missense	possibly damaging	0.79
R7936:Myh7	UTSW	14	55,216,920 (GRCm39)	missense	possibly damaging	0.93
R8056:Myh7	UTSW	14	55,210,776 (GRCm39)	nonsense	probably null
R8061:Myh7	UTSW	14	55,228,398 (GRCm39)	missense	probably benign
R8101:Myh7	UTSW	14	55,210,776 (GRCm39)	nonsense	probably null
R8202:Myh7	UTSW	14	55,227,497 (GRCm39)	missense	probably benign
R8504:Myh7	UTSW	14	55,227,786 (GRCm39)	missense	probably damaging	0.98
R8560:Myh7	UTSW	14	55,213,405 (GRCm39)	missense	possibly damaging	0.93
R8843:Myh7	UTSW	14	55,212,752 (GRCm39)	missense	probably damaging	0.98
R8903:Myh7	UTSW	14	55,230,228 (GRCm39)	nonsense	probably null
R8926:Myh7	UTSW	14	55,222,533 (GRCm39)	missense	probably benign	0.33
R8936:Myh7	UTSW	14	55,228,440 (GRCm39)	missense	probably benign	0.00
R9182:Myh7	UTSW	14	55,226,374 (GRCm39)	missense	probably damaging	1.00
R9260:Myh7	UTSW	14	55,224,842 (GRCm39)	missense	probably damaging	0.99
R9264:Myh7	UTSW	14	55,213,454 (GRCm39)	missense	probably benign	0.01
R9288:Myh7	UTSW	14	55,222,932 (GRCm39)	missense	probably benign	0.35
R9362:Myh7	UTSW	14	55,222,932 (GRCm39)	missense	probably benign	0.00
R9497:Myh7	UTSW	14	55,217,841 (GRCm39)	missense	probably benign	0.12
R9561:Myh7	UTSW	14	55,216,146 (GRCm39)	missense	probably damaging	1.00
R9663:Myh7	UTSW	14	55,221,098 (GRCm39)	missense	probably damaging	1.00
R9789:Myh7	UTSW	14	55,229,384 (GRCm39)	missense	possibly damaging	0.87
Z1192:Myh7	UTSW	14	55,220,748 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTAAGCAGAGAGGACCAGGTTGCC -3'
(R):5'- GCAATGCCAAGACAGTTCGGAATG -3'

Sequencing Primer
(F):5'- GAAGCTCAGGCTTTTTATTAGACAGG -3'
(R):5'- GGAATGACAACTCCTCTCGATTTG -3'

Posted On

2013-06-12