Mutagenetix > Incidental Mutation

Incidental Mutation 'R4871:Myh7b'

376557

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

042481-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4871 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 155613500 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 89 (M89K)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

Predicted Effect

probably benign
Transcript: ENSMUST00000092995
AA Change: M89K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: M89K

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

Meta Mutation Damage Score

0.2684

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.1%

Validation Efficiency

93% (99/107)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcyap1r1	A	G	6: 55,480,093	T270A	probably null	Het
Adgrv1	A	T	13: 81,533,122		probably benign	Het
Aldh1b1	A	T	4: 45,803,383	D307V	probably benign	Het
Aldh3a2	A	T	11: 61,262,239	C220*	probably null	Het
Ank2	T	C	3: 126,959,795	Y279C	probably damaging	Het
Anks1	T	C	17: 27,991,377	Y444H	probably benign	Het
Asph	G	T	4: 9,531,968	T383K	probably benign	Het
Asphd1	G	T	7: 126,948,575	S185R	possibly damaging	Het
Bcl2a1d	T	A	9: 88,731,695	I9F	probably damaging	Het
Bcl2l11	T	C	2: 128,129,041		probably benign	Het
C2cd3	T	G	7: 100,413,374	S656A	possibly damaging	Het
Cd5l	T	C	3: 87,367,622	V156A	probably damaging	Het
Cdh8	G	C	8: 99,030,904	N687K	probably damaging	Het
Cdk19	A	G	10: 40,476,236	D338G	probably benign	Het
Cenpf	A	G	1: 189,658,531	C1035R	probably damaging	Het
Cep290	A	G	10: 100,548,914	R1845G	probably benign	Het
Cep295nl	G	T	11: 118,333,824	Q65K	probably damaging	Het
Ciz1	T	C	2: 32,372,288		probably benign	Het
Clasrp	T	C	7: 19,590,248	D234G	possibly damaging	Het
Dctd	C	T	8: 48,137,414		probably benign	Het
Ddr2	A	G	1: 170,004,771	V150A	probably benign	Het
Dnah7b	T	C	1: 46,081,444	S74P	probably benign	Het
Dnttip2	C	A	3: 122,285,101	A743E	probably damaging	Het
Dysf	A	T	6: 84,067,023	Q281L	possibly damaging	Het
Ece2	A	G	16: 20,644,155	E610G	probably damaging	Het
Edem3	T	G	1: 151,804,231		probably null	Het
Ext1	G	T	15: 53,092,377	N441K	probably benign	Het
Fam118a	A	G	15: 85,058,768	R333G	probably damaging	Het
Fam45a	A	G	19: 60,830,814	E120G	probably damaging	Het
Fat4	C	T	3: 38,891,605	T1549I	probably damaging	Het
Fbxo4	A	G	15: 3,975,912	V162A	probably damaging	Het
Fgd2	A	G	17: 29,373,249	H385R	possibly damaging	Het
Garnl3	A	T	2: 33,087,088	M1K	probably null	Het
Gm37267	T	G	1: 180,510,518		noncoding transcript	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpbar1	C	T	1: 74,279,543	A315V	probably damaging	Het
Grm2	T	C	9: 106,647,645	I624V	probably benign	Het
Hmcn1	T	C	1: 150,593,085	I5042V	probably benign	Het
Hnf4g	T	C	3: 3,651,388	Y291H	possibly damaging	Het
Ighm	A	G	12: 113,421,621	S240P	unknown	Het
Igkv4-91	A	G	6: 68,768,620	I98T	probably damaging	Het
Krt72	T	C	15: 101,786,034	N142S	probably damaging	Het
Kynu	T	A	2: 43,679,818	Y371N	possibly damaging	Het
Ly9	G	T	1: 171,607,330		probably benign	Het
Man1a2	C	A	3: 100,617,056	V359F	probably damaging	Het
Mast1	T	C	8: 84,920,658	I623M	probably damaging	Het
Mb	A	G	15: 77,022,487		probably null	Het
Mcm4	A	C	16: 15,634,510	L113*	probably null	Het
Mcub	C	T	3: 129,917,036	W249*	probably null	Het
Mme	T	A	3: 63,340,032	V246E	probably benign	Het
Mrpl38	A	G	11: 116,134,272	Y232H	probably damaging	Het
Notch4	A	G	17: 34,577,562	S892G	possibly damaging	Het
Nt5dc3	A	G	10: 86,817,077	Y245C	probably damaging	Het
Ntn1	CCTTCTTCT	CCTTCT	11: 68,213,026		probably benign	Het
Olfr101	T	A	17: 37,300,204	T73S	probably benign	Het
Olfr1024	T	A	2: 85,904,371	I228F	probably benign	Het
Olfr104-ps	A	T	17: 37,362,446	I107L	probably benign	Het
Olfr1066	A	T	2: 86,455,809	I154N	possibly damaging	Het
Olfr305	A	T	7: 86,363,484	N284K	probably damaging	Het
Olfr883	G	T	9: 38,026,526	C240F	probably damaging	Het
Palld	A	T	8: 61,549,781		probably benign	Het
Pcdhga10	T	C	18: 37,748,200	V338A	probably damaging	Het
Pcdhga11	A	G	18: 37,757,406	Y489C	probably damaging	Het
Pgm1	T	C	5: 64,103,894	Y244H	probably benign	Het
Phactr4	A	T	4: 132,378,448	S102R	probably damaging	Het
Plekha5	A	G	6: 140,525,910	Y20C	probably damaging	Het
Rdh19	A	G	10: 127,860,144	D255G	probably benign	Het
Rgs3	T	C	4: 62,631,295	V438A	probably benign	Het
Rnf186	A	G	4: 138,967,943	T265A	probably benign	Het
Ror1	T	C	4: 100,425,998	F420S	probably benign	Het
Rtkn2	A	G	10: 68,005,633	K204E	probably damaging	Het
Rundc1	A	G	11: 101,434,048	T527A	probably benign	Het
Samd4	T	C	14: 47,066,463	S301P	probably damaging	Het
Scaf1	G	A	7: 45,005,879		probably benign	Het
Srgap2	A	G	1: 131,289,472	V1034A	probably benign	Het
Stab2	T	C	10: 86,942,235	D743G	probably damaging	Het
Stim1	A	T	7: 102,354,572	I71F	probably damaging	Het
Stk17b	T	C	1: 53,757,534	D358G	probably benign	Het
Sun2	A	G	15: 79,727,564	Y551H	probably damaging	Het
Tas2r110	A	T	6: 132,868,128	T41S	probably benign	Het
Tead3	T	A	17: 28,333,615	E268V	probably damaging	Het
Tead3	A	G	17: 28,334,988	S131P	probably benign	Het
Tepsin	A	T	11: 120,091,525	M505K	possibly damaging	Het
Trbv29	A	G	6: 41,271,734	Y66C	possibly damaging	Het
Ttc6	A	G	12: 57,702,356	Q1358R	probably damaging	Het
Ttll2	C	T	17: 7,351,599	V310I	probably benign	Het
Uaca	T	C	9: 60,846,001	V76A	probably damaging	Het
Vwf	A	T	6: 125,686,462	T2789S	probably benign	Het
Yipf4	T	C	17: 74,494,094	F136L	probably benign	Het
Zdhhc1	CGGGGG	CGGGGGG	8: 105,483,744		probably null	Het
Zfp804b	A	T	5: 6,876,479	D51E	probably damaging	Het
Zfyve9	C	T	4: 108,680,986	G969R	probably damaging	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
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
R8176:Myh7b	UTSW	2	155625966	missense	probably benign	0.06
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'- ATATTAGCCCCTCTGACCCTGG -3'
(R):5'- AGAGCCCTCTTCTAGCCTAG -3'

Sequencing Primer
(F):5'- CAGCTGGATCCACAGAGTG -3'
(R):5'- TAGCCTAGCCACTCCTAGTCACG -3'

Posted On

2016-03-17