Mutagenetix > Incidental Mutation

Incidental Mutation 'R7711:Myh7b'

594592

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 #

R7711 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 155620403 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 342 (L342R)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000092995
AA Change: L342R

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

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: L342R

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: 99.2%

Validation Efficiency

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	A	8: 120,159,984	E342K	possibly damaging	Het
9430015G10Rik	T	G	4: 156,119,192	V34G	probably damaging	Het
Alkbh3	T	C	2: 94,008,092	S44G	probably benign	Het
Alpk2	A	T	18: 65,306,484	C613S	probably benign	Het
Aplp2	G	A	9: 31,161,349	R488C	probably damaging	Het
Arid1b	A	G	17: 5,336,820	N1463S	probably benign	Het
Atxn2l	A	T	7: 126,501,269	L125Q	probably damaging	Het
C130060K24Rik	A	G	6: 65,441,373	H23R		Het
Cd3d	A	G	9: 44,986,336	K172E	probably benign	Het
Chd7	T	A	4: 8,805,234	D764E	probably benign	Het
Col19a1	T	C	1: 24,530,008	I220V	unknown	Het
Cpq	T	C	15: 33,497,347	I411T	probably benign	Het
Crybg2	C	A	4: 134,065,533	H160N	probably benign	Het
Cryl1	A	T	14: 57,275,556	C285S	probably benign	Het
Dapk1	A	G	13: 60,761,551	D1326G	probably damaging	Het
Dgkh	A	G	14: 78,725,019	V24A	probably benign	Het
Dnajb4	A	C	3: 152,186,517	S226R	probably benign	Het
Dnm3	A	T	1: 161,992,053	I850N	possibly damaging	Het
Dtna	G	T	18: 23,625,196		probably null	Het
Efcab6	G	T	15: 83,949,924	D494E	probably benign	Het
Fam169a	G	T	13: 97,126,688	E550*	probably null	Het
Fbxw7	A	G	3: 84,925,681	N10S	probably benign	Het
Flrt2	T	C	12: 95,780,754	F622S	probably damaging	Het
Gm17359	A	G	3: 79,405,860	I80M	probably damaging	Het
Gm884	G	T	11: 103,614,912	Q2077K	probably benign	Het
Gm906	T	G	13: 50,247,095	R398S	probably benign	Het
Gprc5d	G	A	6: 135,116,357	T184I	possibly damaging	Het
Grem2	A	G	1: 174,837,127	V52A	probably damaging	Het
Gtf3c2	G	T	5: 31,170,189	T310N	probably damaging	Het
H2-Bl	T	A	17: 36,083,878	N51I	probably damaging	Het
Hyou1	A	G	9: 44,384,462	D338G	possibly damaging	Het
Ifna6	T	C	4: 88,827,734	S107P	probably benign	Het
Kif14	G	T	1: 136,471,453	G451C	probably benign	Het
Kit	T	A	5: 75,637,359	F436I	probably damaging	Het
Lonp2	G	A	8: 86,714,008	C751Y	probably damaging	Het
Lonrf1	C	A	8: 36,249,221	G87C	probably damaging	Het
Lrp2	T	C	2: 69,479,343		probably null	Het
Mkln1	A	G	6: 31,492,649	H598R	probably damaging	Het
Mmaa	T	C	8: 79,268,145	H344R	probably benign	Het
Myh7	C	G	14: 54,988,801	D461H	probably damaging	Het
Olfr1120	A	G	2: 87,357,527	N28D	probably benign	Het
Olfr1291-ps1	T	A	2: 111,500,152	I300K	probably damaging	Het
Olfr18	A	T	9: 20,314,023	V299E	possibly damaging	Het
Olfr753-ps1	C	T	17: 37,169,956	G129R	probably damaging	Het
Pcsk5	T	A	19: 17,439,080	Y1668F	possibly damaging	Het
Pfn4	C	T	12: 4,774,414	T47I	possibly damaging	Het
Pklr	T	C	3: 89,141,342	L104P	probably damaging	Het
Plcxd2	A	G	16: 45,980,330	V177A	probably benign	Het
Pramef25	T	C	4: 143,949,252	S335G	probably benign	Het
Prdm10	G	T	9: 31,357,232	A826S	probably damaging	Het
Prrt4	A	G	6: 29,177,456	S105P	probably benign	Het
Prss51	T	A	14: 64,097,488	V164E	probably damaging	Het
Psap	T	C	10: 60,299,855	V360A	probably damaging	Het
Psg22	T	C	7: 18,718,342		probably null	Het
Rad51	A	G	2: 119,131,590	Q206R	probably benign	Het
Rap1gds1	T	C	3: 138,959,113	K277R	probably benign	Het
Rassf2	T	A	2: 132,005,377	T103S	probably benign	Het
Rbm15b	T	A	9: 106,885,943	H342L	possibly damaging	Het
Rsf1	G	GACCGCGGCC	7: 97,579,909		probably benign	Het
Scaf8	T	C	17: 3,187,634	F561L	probably damaging	Het
Scn1a	G	A	2: 66,303,660	A130V	probably benign	Het
Scn7a	T	C	2: 66,700,877	E552G	probably damaging	Het
Slc39a14	T	A	14: 70,313,675	R183W	probably damaging	Het
Slfn1	A	T	11: 83,121,263	K68N	possibly damaging	Het
Slx4ip	A	G	2: 137,067,994	D303G	probably damaging	Het
Snx17	T	A	5: 31,195,460	F101Y	probably damaging	Het
Specc1l	C	A	10: 75,230,808	N30K	probably benign	Het
Tbx19	A	G	1: 165,139,199	S369P	probably benign	Het
Usp17ld	T	C	7: 103,250,282	H481R	probably damaging	Het
Wnt2	A	G	6: 17,990,037	L287P	probably benign	Het
Zfhx4	G	T	3: 5,396,956	M1230I	probably damaging	Het
Zfp1	T	C	8: 111,670,162	C272R	not run	Het
Zfp458	A	G	13: 67,259,600	S64P	possibly 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
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
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'- CGAGGAACTTATCGCCACTG -3'
(R):5'- AAGTTTCCAGGGTAAAGGCC -3'

Sequencing Primer
(F):5'- ATCGCCACTGATGTACGATG -3'
(R):5'- TTTCCAGGGTAAAGGCCAGGTC -3'

Posted On

2019-11-12