Mutagenetix > Incidental Mutation

Incidental Mutation 'R8176:Myh7b'

634331

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8176 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155625966 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 808 (Y808C)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

Predicted Effect

probably benign
Transcript: ENSMUST00000092995
AA Change: Y808C

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: Y808C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	T	A	12: 31,185,136	F172I	noncoding transcript	Het
A26c2	T	C	7: 62,783,035		probably null	Het
Aatk	A	G	11: 120,016,415	V154A	probably damaging	Het
Abca6	A	C	11: 110,244,194	V255G	probably benign	Het
Adam8	T	C	7: 139,988,873	K211E	probably benign	Het
Alg12	A	G	15: 88,805,881	V470A	possibly damaging	Het
Anks1b	C	A	10: 90,069,491	H231Q	probably damaging	Het
Bcl2	T	C	1: 106,712,798	Y28C	probably damaging	Het
Bms1	G	T	6: 118,418,450	F45L	probably damaging	Het
Btd	T	A	14: 31,662,116	F20I	probably benign	Het
C1rl	T	C	6: 124,493,885	S51P	probably benign	Het
Capn7	C	A	14: 31,347,772	F184L	probably benign	Het
Cd300lg	A	T	11: 102,041,564		probably benign	Het
Cdc34	T	C	10: 79,682,528	Y39H	probably damaging	Het
Cenpe	A	G	3: 135,230,090	K429E	probably damaging	Het
Cfap43	T	C	19: 47,795,675	N473S	probably benign	Het
Cntln	C	T	4: 84,888,689	T136I	probably damaging	Het
Cyfip1	A	T	7: 55,924,427	L1032F	probably benign	Het
Dach1	C	T	14: 97,916,480	V392I	probably benign	Het
Dnah14	C	T	1: 181,657,033	S1590L	probably damaging	Het
Dsp	T	C	13: 38,192,810	Y1524H	possibly damaging	Het
Dusp13	T	C	14: 21,747,481	I103V	possibly damaging	Het
Efhb	T	C	17: 53,400,846	Y763C	probably damaging	Het
Fam102a	A	G	2: 32,563,612	T158A	probably benign	Het
Fam117a	G	T	11: 95,337,139	R25L	unknown	Het
Fcgbp	T	C	7: 28,091,749	S812P	possibly damaging	Het
Fgd5	T	A	6: 91,987,984	N399K	probably benign	Het
Foxi3	T	A	6: 70,957,033	I168N	probably damaging	Het
Frem2	A	T	3: 53,655,340	I582K	possibly damaging	Het
Gm21915	T	A	9: 40,670,970	S120T	probably benign	Het
Gtf3c5	A	G	2: 28,570,417		probably null	Het
Hecw1	A	T	13: 14,247,701		probably null	Het
Hsf2	T	A	10: 57,505,194	Y293*	probably null	Het
Ints10	T	A	8: 68,802,951	Y198N	probably damaging	Het
Iqgap3	A	G	3: 88,094,650	E399G	probably damaging	Het
Itsn1	T	A	16: 91,848,709		probably null	Het
Kcnh8	T	C	17: 52,978,094	S1031P	probably damaging	Het
Llgl1	A	G	11: 60,706,561	T279A	probably benign	Het
Ly6a	C	T	15: 74,996,451		probably null	Het
March4	T	C	1: 72,534,839	E100G	probably damaging	Het
Mta1	A	G	12: 113,120,836	E84G	probably benign	Het
Ncoa1	A	G	12: 4,267,858	V1158A	possibly damaging	Het
Npepps	A	G	11: 97,236,151	S428P	probably damaging	Het
Olfr1408	C	T	1: 173,130,816	V134I	probably benign	Het
Olfr603	G	A	7: 103,383,864	T46I	probably benign	Het
Olfr774	T	G	10: 129,238,878	M243R	probably benign	Het
Onecut2	A	T	18: 64,340,860	T161S	possibly damaging	Het
Pdp2	A	G	8: 104,595,055	D512G	probably damaging	Het
Pex11b	G	T	3: 96,643,711	V171L	probably benign	Het
Ppil3	A	T	1: 58,440,919	C32*	probably null	Het
Prune2	T	C	19: 17,118,292	Y387H	probably damaging	Het
Rbp3	C	A	14: 33,955,648	H518N	possibly damaging	Het
Rhot2	T	C	17: 25,844,094	Y58C	probably damaging	Het
Sec16b	C	A	1: 157,535,411	H271N	probably damaging	Het
Sgo2a	A	G	1: 58,017,093	D812G	possibly damaging	Het
Skap2	T	C	6: 51,907,898	E261G	probably damaging	Het
Spata31d1b	A	G	13: 59,717,303	N755S	probably benign	Het
Stat5a	T	A	11: 100,876,863	M419K	probably damaging	Het
Tecta	C	T	9: 42,359,169	C1281Y	probably damaging	Het
Tm9sf2	T	G	14: 122,137,501	S196R	probably benign	Het
Trpm8	A	T	1: 88,365,115	H946L	probably benign	Het

Other mutations in Myh7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Myh7b	APN	2	155630292	missense	probably damaging	0.99
IGL01604:Myh7b	APN	2	155632407	missense	probably damaging	0.96
IGL02179:Myh7b	APN	2	155614491	missense	probably benign	0.02
IGL02729:Myh7b	APN	2	155625689	missense	probably damaging	1.00
IGL02804:Myh7b	APN	2	155625723	missense	probably damaging	1.00
IGL02851:Myh7b	APN	2	155628827	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155632903	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155625954	missense	possibly damaging	0.95
IGL02992:Myh7b	APN	2	155621410	missense	probably damaging	0.99
IGL03060:Myh7b	APN	2	155632751	missense	probably damaging	1.00
IGL03061:Myh7b	APN	2	155620111	missense	possibly damaging	0.93
IGL03226:Myh7b	APN	2	155620483	nonsense	probably null
IGL03246:Myh7b	APN	2	155617872	missense	probably damaging	1.00
IGL03382:Myh7b	APN	2	155623479	missense	probably damaging	1.00
euclidian	UTSW	2	155633399	missense	probably benign	0.32
imaginary	UTSW	2	155632255	missense	probably benign	0.36
Irrational	UTSW	2	155630672	unclassified	probably benign
Muscoli	UTSW	2	155620118	nonsense	probably null
R0015:Myh7b	UTSW	2	155622286	missense	probably damaging	1.00
R0015:Myh7b	UTSW	2	155622286	missense	probably damaging	1.00
R0109:Myh7b	UTSW	2	155611674	missense	possibly damaging	0.92
R0309:Myh7b	UTSW	2	155630672	unclassified	probably benign
R0567:Myh7b	UTSW	2	155626398	missense	probably damaging	1.00
R0619:Myh7b	UTSW	2	155611722	missense	probably benign	0.00
R0927:Myh7b	UTSW	2	155620120	missense	probably damaging	1.00
R0973:Myh7b	UTSW	2	155620427	missense	probably benign
R0973:Myh7b	UTSW	2	155620427	missense	probably benign
R0974:Myh7b	UTSW	2	155620427	missense	probably benign
R1137:Myh7b	UTSW	2	155622714	missense	probably damaging	1.00
R1261:Myh7b	UTSW	2	155621083	missense	probably benign	0.00
R1268:Myh7b	UTSW	2	155614046	nonsense	probably null
R1537:Myh7b	UTSW	2	155631787	missense	probably damaging	0.96
R1632:Myh7b	UTSW	2	155620525	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155613193	missense	probably damaging	0.99
R1697:Myh7b	UTSW	2	155620134	missense	probably damaging	1.00
R1730:Myh7b	UTSW	2	155625672	missense	possibly damaging	0.73
R1762:Myh7b	UTSW	2	155630858	missense	probably damaging	0.96
R1783:Myh7b	UTSW	2	155625672	missense	possibly damaging	0.73
R2105:Myh7b	UTSW	2	155629457	missense	probably benign	0.00
R2140:Myh7b	UTSW	2	155620123	missense	probably damaging	1.00
R2971:Myh7b	UTSW	2	155632255	missense	probably benign	0.36
R3838:Myh7b	UTSW	2	155632989	missense	probably damaging	1.00
R4074:Myh7b	UTSW	2	155618758	missense	probably damaging	0.96
R4191:Myh7b	UTSW	2	155633399	missense	probably benign	0.32
R4689:Myh7b	UTSW	2	155630514	missense	possibly damaging	0.75
R4695:Myh7b	UTSW	2	155614177	missense	probably damaging	1.00
R4697:Myh7b	UTSW	2	155629322	missense	probably damaging	1.00
R4771:Myh7b	UTSW	2	155626394	nonsense	probably null
R4794:Myh7b	UTSW	2	155623266	missense	probably benign	0.00
R4842:Myh7b	UTSW	2	155633989	missense	probably benign	0.45
R4871:Myh7b	UTSW	2	155613500	missense	probably benign	0.18
R5022:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5023:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5025:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5050:Myh7b	UTSW	2	155631750	missense	probably benign	0.00
R5055:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5056:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5161:Myh7b	UTSW	2	155632373	missense	possibly damaging	0.75
R5284:Myh7b	UTSW	2	155632314	missense	probably benign
R5422:Myh7b	UTSW	2	155631034	missense	probably damaging	0.99
R5505:Myh7b	UTSW	2	155632672	missense	probably benign	0.01
R5946:Myh7b	UTSW	2	155621395	missense	probably damaging	1.00
R6089:Myh7b	UTSW	2	155622489	missense	probably damaging	1.00
R6103:Myh7b	UTSW	2	155618743	missense	probably damaging	1.00
R6233:Myh7b	UTSW	2	155631799	missense	possibly damaging	0.85
R6292:Myh7b	UTSW	2	155632396	missense	probably damaging	1.00
R6350:Myh7b	UTSW	2	155628760	missense	probably benign	0.00
R6484:Myh7b	UTSW	2	155628643	missense	probably benign	0.05
R6760:Myh7b	UTSW	2	155620118	nonsense	probably null
R6896:Myh7b	UTSW	2	155622568	critical splice donor site	probably null
R6945:Myh7b	UTSW	2	155622232	missense	possibly damaging	0.95
R7020:Myh7b	UTSW	2	155631751	missense	possibly damaging	0.56
R7052:Myh7b	UTSW	2	155614133	missense	probably damaging	1.00
R7102:Myh7b	UTSW	2	155622199	missense	probably damaging	1.00
R7248:Myh7b	UTSW	2	155622186	missense	probably damaging	1.00
R7303:Myh7b	UTSW	2	155618740	missense	probably damaging	1.00
R7360:Myh7b	UTSW	2	155632540	missense	probably benign	0.38
R7652:Myh7b	UTSW	2	155632236	missense	probably damaging	0.99
R7678:Myh7b	UTSW	2	155617778	splice site	probably null
R7703:Myh7b	UTSW	2	155620436	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155620403	missense	probably damaging	1.00
R7923:Myh7b	UTSW	2	155625966	missense	probably benign
R7967:Myh7b	UTSW	2	155614199	splice site	probably null
R8045:Myh7b	UTSW	2	155613181	missense	probably benign	0.00
R8272:Myh7b	UTSW	2	155632904	missense	probably damaging	1.00
R8560:Myh7b	UTSW	2	155623204	missense	possibly damaging	0.93
R8706:Myh7b	UTSW	2	155611749	critical splice donor site	probably null
R8824:Myh7b	UTSW	2	155630381	missense	probably benign	0.02
R8832:Myh7b	UTSW	2	155633262	missense	probably benign	0.00
R9079:Myh7b	UTSW	2	155623254	missense	probably damaging	0.97
R9151:Myh7b	UTSW	2	155632519	missense	probably damaging	1.00
R9311:Myh7b	UTSW	2	155621333	missense	probably damaging	1.00
R9332:Myh7b	UTSW	2	155628802	missense	probably damaging	1.00
R9357:Myh7b	UTSW	2	155621348	missense	probably damaging	1.00
R9388:Myh7b	UTSW	2	155631063	missense	probably benign	0.28
R9583:Myh7b	UTSW	2	155617721	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155614043	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155614043	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGTTAGGGCTTAACCTGGG -3'
(R):5'- CCCCAATGTTAAGGTGTAAAATCCG -3'

Sequencing Primer
(F):5'- TTAACCTGGGTGCACACG -3'
(R):5'- TGTAAAATCCGAGGCTAGGC -3'

Posted On

2020-07-13