Mutagenetix > Incidental Mutation

Incidental Mutation 'R7870:Myh7'

608066

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

045922-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.912) question?

Stock #

R7870 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55208141-55232083 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 55226258 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Histidine at position 461 (D461H)

Ref Sequence

ENSEMBL: ENSMUSP00000099867 (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: D461H

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

SMART Domains

Protein: ENSMUSP00000099867
Gene: ENSMUSG00000053093
AA Change: D461H

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: 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: D461H

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

SMART Domains

Protein: ENSMUSP00000126840
Gene: ENSMUSG00000053093
AA Change: D461H

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

probably benign
Transcript: ENSMUST00000228837

Meta Mutation Damage Score

0.9474

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,441,505 (GRCm39)	F171L	probably benign	Het
2410137M14Rik	A	T	17: 37,288,909 (GRCm39)	C152S	unknown	Het
Alb	T	C	5: 90,620,488 (GRCm39)	F533L	possibly damaging	Het
Alox12b	T	C	11: 69,060,135 (GRCm39)	M616T	possibly damaging	Het
Atxn2l	A	G	7: 126,091,924 (GRCm39)	F968L	probably benign	Het
Cadps2	G	T	6: 23,263,641 (GRCm39)	H1227Q	probably benign	Het
Cdh18	A	T	15: 23,474,413 (GRCm39)	D761V	possibly damaging	Het
Cdkl3	T	C	11: 51,909,284 (GRCm39)		probably null	Het
Chrdl2	T	C	7: 99,659,249 (GRCm39)	L9P	unknown	Het
Ctr9	A	G	7: 110,651,618 (GRCm39)	E946G	unknown	Het
Cygb	T	A	11: 116,540,116 (GRCm39)	T178S	probably benign	Het
Cyp2c67	A	C	19: 39,597,669 (GRCm39)	M443R	probably damaging	Het
Dnah12	A	G	14: 26,578,486 (GRCm39)	T3082A	probably benign	Het
Flnc	C	T	6: 29,454,306 (GRCm39)	T1906I	probably damaging	Het
Gm14496	A	G	2: 181,637,906 (GRCm39)	I327V	probably benign	Het
Gm29106	T	A	1: 118,126,885 (GRCm39)	N192K	possibly damaging	Het
H3f3a	A	T	1: 180,639,490 (GRCm39)	M1K	probably null	Het
Htt	T	A	5: 35,055,891 (GRCm39)	W2601R	possibly damaging	Het
Il18r1	T	A	1: 40,530,296 (GRCm39)	I341K	probably benign	Het
Kcnj1	G	A	9: 32,307,881 (GRCm39)	V102I	probably benign	Het
Lrp3	C	A	7: 34,910,922 (GRCm39)	G41V	probably damaging	Het
Lrrc9	G	T	12: 72,532,964 (GRCm39)	K944N	probably damaging	Het
Mettl21e	T	A	1: 44,249,371 (GRCm39)	E95V	probably damaging	Het
Mib1	G	A	18: 10,798,446 (GRCm39)	R769Q	possibly damaging	Het
Mymk	A	G	2: 26,952,298 (GRCm39)	S190P	probably damaging	Het
Neb	G	A	2: 52,215,761 (GRCm39)	P182L	probably damaging	Het
Nfil3	A	G	13: 53,122,449 (GRCm39)	Y152H	probably damaging	Het
Nisch	A	G	14: 30,894,052 (GRCm39)	Y1174H	probably damaging	Het
Nyap1	G	C	5: 137,733,658 (GRCm39)	Y458*	probably null	Het
Or4d5	A	C	9: 40,011,973 (GRCm39)	V271G	possibly damaging	Het
Or52z13	T	A	7: 103,247,473 (GRCm39)	C317S	probably damaging	Het
Or5h17	G	A	16: 58,820,086 (GRCm39)	V13I	probably benign	Het
Pars2	T	A	4: 106,511,276 (GRCm39)	Y353N	probably damaging	Het
Patj	G	T	4: 98,312,553 (GRCm39)	G297V	probably damaging	Het
Pcdh9	A	T	14: 94,124,693 (GRCm39)	S492R	probably damaging	Het
Pcyox1	G	A	6: 86,369,323 (GRCm39)	R168C	probably damaging	Het
Plbd1	A	T	6: 136,594,326 (GRCm39)	Y308N	possibly damaging	Het
Rax	A	G	18: 66,071,284 (GRCm39)	V117A	probably benign	Het
Rdh9	C	A	10: 127,612,566 (GRCm39)	N71K	probably benign	Het
Sap130	A	G	18: 31,853,714 (GRCm39)	N968S	probably benign	Het
Sema5a	A	T	15: 32,609,485 (GRCm39)	I464F	probably benign	Het
Sez6l	T	G	5: 112,586,447 (GRCm39)	D683A	probably damaging	Het
Slit2	C	A	5: 48,459,649 (GRCm39)	P1310T	probably damaging	Het
Snap47	T	C	11: 59,328,904 (GRCm39)	M133V	probably benign	Het
Son	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC	16: 91,453,486 (GRCm39)		probably benign	Het
Srcap	G	A	7: 127,159,730 (GRCm39)	S3202N	unknown	Het
Ssh2	T	C	11: 77,344,441 (GRCm39)	W809R	probably benign	Het
Stau1	G	T	2: 166,792,870 (GRCm39)	A365D	possibly damaging	Het
Tfpi2	A	G	6: 3,968,281 (GRCm39)	L15P	probably damaging	Het
Thbs1	A	T	2: 117,945,508 (GRCm39)	N329I	possibly damaging	Het
Tmem65	A	T	15: 58,659,010 (GRCm39)	D184E	probably damaging	Het
Trpm6	G	T	19: 18,792,605 (GRCm39)	E676D	probably benign	Het
Vdr	T	G	15: 97,782,771 (GRCm39)	D17A	possibly damaging	Het
Vmn1r123	C	T	7: 20,896,192 (GRCm39)	T28I	probably damaging	Het
Wdr90	A	G	17: 26,079,513 (GRCm39)	L207P	probably damaging	Het
Zfp354c	TGTCACACTCG	TG	11: 50,706,065 (GRCm39)		probably benign	Het
Zfp598	A	G	17: 24,898,304 (GRCm39)	E402G	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
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
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'- AAAGCTGTTGAACTGCAGGG -3'
(R):5'- TTCCCAGGAGCGCATATCATC -3'

Sequencing Primer
(F):5'- ACAGGCATGGCTGGTTC -3'
(R):5'- GGAGCGCATATCATCCAGATTTC -3'

Posted On

2019-12-20