Mutagenetix > Incidental Mutation

Incidental Mutation 'R4794:Myh7b'

368827

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

042420-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4794 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155453132-155476227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 155465186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 681 (V681I)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092995]

AlphaFold

A2AQP0

Predicted Effect

probably benign
Transcript: ENSMUST00000092995
AA Change: V681I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: V681I

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	32	72	4.7e-14	PFAM
MYSc	78	786	N/A	SMART
IQ	787	809	2.6e0	SMART
Pfam:Myosin_tail_1	850	1931	5.5e-149	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102357

Meta Mutation Damage Score

0.0811

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 92.5%

Validation Efficiency

97% (75/77)

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer comprised of two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	A	T	12: 81,468,198 (GRCm39)	I141K	probably damaging	Het
Adgrb1	A	G	15: 74,459,978 (GRCm39)	E537G	probably damaging	Het
Asic3	C	T	5: 24,620,895 (GRCm39)	A259V	probably damaging	Het
Bcar1	G	A	8: 112,447,552 (GRCm39)	Q142*	probably null	Het
Bcas3	T	C	11: 85,400,294 (GRCm39)	V200A	probably damaging	Het
Cd302	A	T	2: 60,102,493 (GRCm39)	I42N	probably benign	Het
Colec12	C	A	18: 9,848,984 (GRCm39)	N387K	probably damaging	Het
Copa	T	A	1: 171,946,888 (GRCm39)	I1032N	probably damaging	Het
D630003M21Rik	G	C	2: 158,038,059 (GRCm39)	T1129S	probably benign	Het
D630045J12Rik	G	A	6: 38,171,420 (GRCm39)	T916I	possibly damaging	Het
Dnajb13	C	T	7: 100,153,199 (GRCm39)	A241T	probably damaging	Het
Dyrk4	G	T	6: 126,862,300 (GRCm39)	N397K	possibly damaging	Het
Eftud2	T	A	11: 102,761,003 (GRCm39)	Y114F	probably benign	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Epm2a	A	G	10: 11,266,597 (GRCm39)	D114G	probably benign	Het
Exoc5	T	C	14: 49,286,357 (GRCm39)		probably null	Het
Fam135a	G	A	1: 24,068,241 (GRCm39)	T706I	probably benign	Het
Fasn	A	G	11: 120,702,121 (GRCm39)	V1845A	probably benign	Het
Fscn3	A	G	6: 28,430,595 (GRCm39)	E255G	probably damaging	Het
Galnt7	A	T	8: 57,998,397 (GRCm39)	Y311N	probably damaging	Het
Grid1	T	C	14: 34,544,579 (GRCm39)	L50P	probably damaging	Het
Hepacam2	A	G	6: 3,475,933 (GRCm39)	F331L	probably damaging	Het
Kalrn	C	T	16: 33,810,180 (GRCm39)	D2525N	possibly damaging	Het
Kif1a	T	C	1: 92,953,449 (GRCm39)	Y1245C	probably damaging	Het
Ltbp3	T	C	19: 5,806,707 (GRCm39)	F1022L	probably damaging	Het
Med16	G	T	10: 79,735,951 (GRCm39)	T399N	probably damaging	Het
Mfsd14a	A	T	3: 116,439,155 (GRCm39)		probably benign	Het
Ndc1	A	G	4: 107,247,419 (GRCm39)	E409G	probably benign	Het
Necap2	A	G	4: 140,798,912 (GRCm39)		probably benign	Het
Or2a57	T	A	6: 43,212,629 (GRCm39)	L29H	probably damaging	Het
Or4p21	A	T	2: 88,276,691 (GRCm39)	M197K	probably benign	Het
Or7g29	C	T	9: 19,286,841 (GRCm39)	S112N	probably benign	Het
Parp12	G	A	6: 39,094,744 (GRCm39)	T117I	probably benign	Het
Pars2	C	A	4: 106,511,407 (GRCm39)	C396*	probably null	Het
Prg4	A	T	1: 150,330,297 (GRCm39)		probably benign	Het
Prkg2	G	A	5: 99,114,492 (GRCm39)	T523I	probably damaging	Het
Prph	T	A	15: 98,955,308 (GRCm39)	L425Q	probably damaging	Het
Ranbp9	A	G	13: 43,567,552 (GRCm39)	Y549H	probably damaging	Het
Rbm12	A	T	2: 155,937,489 (GRCm39)		probably benign	Het
Reln	T	C	5: 22,549,183 (GRCm39)	Y75C	probably damaging	Het
Rock2	G	A	12: 16,990,408 (GRCm39)	R110H	probably damaging	Het
Samd1	G	A	8: 84,726,346 (GRCm39)	E468K	probably damaging	Het
Samd11	T	A	4: 156,333,922 (GRCm39)	Q173L	probably damaging	Het
Scgb2b20	C	A	7: 33,065,151 (GRCm39)	G37V	probably damaging	Het
Sf1	C	A	19: 6,425,694 (GRCm39)		probably benign	Het
Slc17a5	T	A	9: 78,481,997 (GRCm39)	H183L	probably damaging	Het
Slco1a7	A	G	6: 141,713,288 (GRCm39)	V31A	probably benign	Het
Smgc	T	A	15: 91,725,657 (GRCm39)	S13T	probably benign	Het
Snapin	A	G	3: 90,398,092 (GRCm39)		probably benign	Het
Spata31e4	C	G	13: 50,857,275 (GRCm39)	P971R	probably benign	Het
Ssc5d	C	T	7: 4,946,744 (GRCm39)	P1033S	probably benign	Het
Strn3	T	C	12: 51,696,954 (GRCm39)	E259G	probably benign	Het
Tbc1d32	A	G	10: 56,072,932 (GRCm39)	F238L	possibly damaging	Het
Tbck	G	A	3: 132,392,729 (GRCm39)	V57M	possibly damaging	Het
Tgm3	A	G	2: 129,883,875 (GRCm39)	D511G	probably benign	Het
Tlr5	T	C	1: 182,801,461 (GRCm39)	V241A	probably benign	Het
Tmem181c-ps	A	G	17: 6,887,754 (GRCm39)		noncoding transcript	Het
Tnfrsf1a	G	A	6: 125,335,047 (GRCm39)	C168Y	probably damaging	Het
Tph2	G	T	10: 115,018,675 (GRCm39)	L79I	possibly damaging	Het
Tsc1	G	A	2: 28,551,702 (GRCm39)		probably null	Het
Ttc14	A	T	3: 33,857,298 (GRCm39)	M215L	probably benign	Het
Ube3c	A	G	5: 29,802,083 (GRCm39)	N120S	probably benign	Het
Ubr2	A	T	17: 47,241,371 (GRCm39)	W1728R	probably damaging	Het
Vnn1	A	G	10: 23,776,602 (GRCm39)	T318A	probably benign	Het
Washc2	T	C	6: 116,235,610 (GRCm39)	V941A	probably benign	Het
Wdfy3	A	G	5: 102,091,809 (GRCm39)	V510A	probably damaging	Het
Wdsub1	A	T	2: 59,693,188 (GRCm39)	V272E	possibly damaging	Het
Xylt1	A	C	7: 117,236,862 (GRCm39)	D537A	probably benign	Het
Zfp57	A	G	17: 37,321,022 (GRCm39)	N292S	possibly damaging	Het

Other mutations in Myh7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Myh7b	APN	2	155,472,212 (GRCm39)	missense	probably damaging	0.99
IGL01604:Myh7b	APN	2	155,474,327 (GRCm39)	missense	probably damaging	0.96
IGL02179:Myh7b	APN	2	155,456,411 (GRCm39)	missense	probably benign	0.02
IGL02729:Myh7b	APN	2	155,467,609 (GRCm39)	missense	probably damaging	1.00
IGL02804:Myh7b	APN	2	155,467,643 (GRCm39)	missense	probably damaging	1.00
IGL02851:Myh7b	APN	2	155,470,747 (GRCm39)	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155,467,874 (GRCm39)	missense	possibly damaging	0.95
IGL02956:Myh7b	APN	2	155,474,823 (GRCm39)	missense	probably damaging	1.00
IGL02992:Myh7b	APN	2	155,463,330 (GRCm39)	missense	probably damaging	0.99
IGL03060:Myh7b	APN	2	155,474,671 (GRCm39)	missense	probably damaging	1.00
IGL03061:Myh7b	APN	2	155,462,031 (GRCm39)	missense	possibly damaging	0.93
IGL03226:Myh7b	APN	2	155,462,403 (GRCm39)	nonsense	probably null
IGL03246:Myh7b	APN	2	155,459,792 (GRCm39)	missense	probably damaging	1.00
IGL03382:Myh7b	APN	2	155,465,399 (GRCm39)	missense	probably damaging	1.00
euclidian	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
imaginary	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
Irrational	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
Muscoli	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0109:Myh7b	UTSW	2	155,453,594 (GRCm39)	missense	possibly damaging	0.92
R0309:Myh7b	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
R0567:Myh7b	UTSW	2	155,468,318 (GRCm39)	missense	probably damaging	1.00
R0619:Myh7b	UTSW	2	155,453,642 (GRCm39)	missense	probably benign	0.00
R0927:Myh7b	UTSW	2	155,462,040 (GRCm39)	missense	probably damaging	1.00
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0974:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R1137:Myh7b	UTSW	2	155,464,634 (GRCm39)	missense	probably damaging	1.00
R1261:Myh7b	UTSW	2	155,463,003 (GRCm39)	missense	probably benign	0.00
R1268:Myh7b	UTSW	2	155,455,966 (GRCm39)	nonsense	probably null
R1537:Myh7b	UTSW	2	155,473,707 (GRCm39)	missense	probably damaging	0.96
R1632:Myh7b	UTSW	2	155,462,445 (GRCm39)	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155,455,113 (GRCm39)	missense	probably damaging	0.99
R1697:Myh7b	UTSW	2	155,462,054 (GRCm39)	missense	probably damaging	1.00
R1730:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R1762:Myh7b	UTSW	2	155,472,778 (GRCm39)	missense	probably damaging	0.96
R1783:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R2105:Myh7b	UTSW	2	155,471,377 (GRCm39)	missense	probably benign	0.00
R2140:Myh7b	UTSW	2	155,462,043 (GRCm39)	missense	probably damaging	1.00
R2971:Myh7b	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
R3838:Myh7b	UTSW	2	155,474,909 (GRCm39)	missense	probably damaging	1.00
R4074:Myh7b	UTSW	2	155,460,678 (GRCm39)	missense	probably damaging	0.96
R4191:Myh7b	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
R4689:Myh7b	UTSW	2	155,472,434 (GRCm39)	missense	possibly damaging	0.75
R4695:Myh7b	UTSW	2	155,456,097 (GRCm39)	missense	probably damaging	1.00
R4697:Myh7b	UTSW	2	155,471,242 (GRCm39)	missense	probably damaging	1.00
R4771:Myh7b	UTSW	2	155,468,314 (GRCm39)	nonsense	probably null
R4842:Myh7b	UTSW	2	155,475,909 (GRCm39)	missense	probably benign	0.45
R4871:Myh7b	UTSW	2	155,455,420 (GRCm39)	missense	probably benign	0.18
R5022:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5023:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5025:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5050:Myh7b	UTSW	2	155,473,670 (GRCm39)	missense	probably benign	0.00
R5055:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5056:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5161:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5284:Myh7b	UTSW	2	155,474,234 (GRCm39)	missense	probably benign
R5422:Myh7b	UTSW	2	155,472,954 (GRCm39)	missense	probably damaging	0.99
R5505:Myh7b	UTSW	2	155,474,592 (GRCm39)	missense	probably benign	0.01
R5946:Myh7b	UTSW	2	155,463,315 (GRCm39)	missense	probably damaging	1.00
R6089:Myh7b	UTSW	2	155,464,409 (GRCm39)	missense	probably damaging	1.00
R6103:Myh7b	UTSW	2	155,460,663 (GRCm39)	missense	probably damaging	1.00
R6233:Myh7b	UTSW	2	155,473,719 (GRCm39)	missense	possibly damaging	0.85
R6292:Myh7b	UTSW	2	155,474,316 (GRCm39)	missense	probably damaging	1.00
R6350:Myh7b	UTSW	2	155,470,680 (GRCm39)	missense	probably benign	0.00
R6484:Myh7b	UTSW	2	155,470,563 (GRCm39)	missense	probably benign	0.05
R6760:Myh7b	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R6896:Myh7b	UTSW	2	155,464,488 (GRCm39)	critical splice donor site	probably null
R6945:Myh7b	UTSW	2	155,464,152 (GRCm39)	missense	possibly damaging	0.95
R7020:Myh7b	UTSW	2	155,473,671 (GRCm39)	missense	possibly damaging	0.56
R7052:Myh7b	UTSW	2	155,456,053 (GRCm39)	missense	probably damaging	1.00
R7102:Myh7b	UTSW	2	155,464,119 (GRCm39)	missense	probably damaging	1.00
R7248:Myh7b	UTSW	2	155,464,106 (GRCm39)	missense	probably damaging	1.00
R7303:Myh7b	UTSW	2	155,460,660 (GRCm39)	missense	probably damaging	1.00
R7360:Myh7b	UTSW	2	155,474,460 (GRCm39)	missense	probably benign	0.38
R7652:Myh7b	UTSW	2	155,474,156 (GRCm39)	missense	probably damaging	0.99
R7678:Myh7b	UTSW	2	155,459,698 (GRCm39)	splice site	probably null
R7703:Myh7b	UTSW	2	155,462,356 (GRCm39)	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155,462,323 (GRCm39)	missense	probably damaging	1.00
R7923:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign
R7967:Myh7b	UTSW	2	155,456,119 (GRCm39)	splice site	probably null
R8045:Myh7b	UTSW	2	155,455,101 (GRCm39)	missense	probably benign	0.00
R8176:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign	0.06
R8272:Myh7b	UTSW	2	155,474,824 (GRCm39)	missense	probably damaging	1.00
R8560:Myh7b	UTSW	2	155,465,124 (GRCm39)	missense	possibly damaging	0.93
R8706:Myh7b	UTSW	2	155,453,669 (GRCm39)	critical splice donor site	probably null
R8824:Myh7b	UTSW	2	155,472,301 (GRCm39)	missense	probably benign	0.02
R8832:Myh7b	UTSW	2	155,475,182 (GRCm39)	missense	probably benign	0.00
R9079:Myh7b	UTSW	2	155,465,174 (GRCm39)	missense	probably damaging	0.97
R9151:Myh7b	UTSW	2	155,474,439 (GRCm39)	missense	probably damaging	1.00
R9311:Myh7b	UTSW	2	155,463,253 (GRCm39)	missense	probably damaging	1.00
R9332:Myh7b	UTSW	2	155,470,722 (GRCm39)	missense	probably damaging	1.00
R9357:Myh7b	UTSW	2	155,463,268 (GRCm39)	missense	probably damaging	1.00
R9388:Myh7b	UTSW	2	155,472,983 (GRCm39)	missense	probably benign	0.28
R9583:Myh7b	UTSW	2	155,459,641 (GRCm39)	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155,473,089 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGGTGTCATAAGGAGCATTTGGG -3'
(R):5'- AAGGAATCCATGACCCCTGG -3'

Sequencing Primer
(F):5'- AGCATTTGGGCTCCTCTGC -3'
(R):5'- AATCCATGACCCCTGGATGTG -3'

Posted On

2016-02-04