Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Myh7'

514128

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

044499-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55208141-55232083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55221149 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 925 (R925G)

Ref Sequence

ENSEMBL: ENSMUSP00000126840 (fasta)

Gene Model

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

AlphaFold

Q91Z83

Predicted Effect

probably damaging
Transcript: ENSMUST00000102803
AA Change: R925G

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

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: R925G

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 damaging
Transcript: ENSMUST00000168485
AA Change: R925G

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

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: R925G

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: ENSMUST00000228715

Meta Mutation Damage Score

0.6296

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Ccnjl	A	T	11: 43,476,165 (GRCm39)	T263S	probably benign	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	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
R0537:Myh7	UTSW	14	55,228,256 (GRCm39)	missense	possibly damaging	0.81
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
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'- GGAACATGCTGTGGTTTGGAAC -3'
(R):5'- TGTGAAGACTTTGAGTTCCCTCC -3'

Sequencing Primer
(F):5'- GTTTGGAACCCGAGGGAAC -3'
(R):5'- AGAAGAAGCCAGGGTCCCTC -3'

Posted On

2018-04-27