Mutagenetix > Incidental Mutations

Incidental Mutation 'R5946:Myh7b'

472152

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5946 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155621395 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 516 (F516L)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092995
AA Change: F516L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: F516L

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

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.4%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,952	F1137S	probably damaging	Het
Actr6	G	T	10: 89,728,192	Q73K	probably benign	Het
Adamtsl3	G	A	7: 82,576,057	G358D	probably damaging	Het
Aggf1	A	G	13: 95,371,576	V94A	probably damaging	Het
Arpc3	A	G	5: 122,403,396	Y57C	probably damaging	Het
Asb2	A	G	12: 103,321,555	Y630H	probably benign	Het
Atp1a1	A	T	3: 101,589,774	N405K	probably benign	Het
C6	G	T	15: 4,808,514	D869Y	possibly damaging	Het
Cds2	A	G	2: 132,297,248	Y137C	probably damaging	Het
Ceacam12	A	T	7: 18,069,206	E179V	probably damaging	Het
Chgb	T	A	2: 132,792,596	Y153N	probably benign	Het
Cit	T	A	5: 115,997,534	L1831Q	probably damaging	Het
Cpne8	C	A	15: 90,488,988	*578L	probably null	Het
Cspg5	A	G	9: 110,251,083	T440A	probably damaging	Het
Dnah7a	A	C	1: 53,559,308	V1393G	probably damaging	Het
Dnajb8	A	G	6: 88,222,593	D37G	probably benign	Het
Dst	A	G	1: 34,174,192	I1063M	probably benign	Het
Efs	T	G	14: 54,919,494		probably null	Het
Gpatch1	A	G	7: 35,291,832	S596P	probably damaging	Het
Hbs1l	C	A	10: 21,341,756	H190Q	probably benign	Het
Ighm	A	G	12: 113,422,709	V7A	unknown	Het
Ivd	A	T	2: 118,876,889	I295F	possibly damaging	Het
Kcnq5	A	C	1: 21,505,707	S258A	probably damaging	Het
Mad1l1	G	T	5: 140,261,579	P331Q	probably damaging	Het
Mcf2l	G	T	8: 13,013,922	G1045C	probably damaging	Het
Mcoln1	T	A	8: 3,508,701	I233N	probably damaging	Het
Mmp13	T	C	9: 7,276,580	L225P	probably damaging	Het
Muc5ac	G	A	7: 141,817,907	C2615Y	possibly damaging	Het
Obsl1	A	T	1: 75,491,207	S1347R	probably damaging	Het
Ogn	A	G	13: 49,618,285	N207S	probably benign	Het
Olfr132	C	A	17: 38,130,707	A162S	probably benign	Het
Olfr874	T	A	9: 37,747,034	L300Q	probably damaging	Het
Pcdha2	G	T	18: 36,941,106	V597L	probably damaging	Het
Pcnt	T	A	10: 76,382,063	Y2126F	possibly damaging	Het
Pgbd5	A	T	8: 124,374,317	M400K	possibly damaging	Het
Pklr	A	T	3: 89,136,196	E5V	probably benign	Het
Pkp4	T	A	2: 59,305,067	D94E	probably benign	Het
Ppan	C	T	9: 20,889,673	Q111*	probably null	Het
Prkcb	A	G	7: 122,544,703	N330S	probably benign	Het
Prl4a1	T	A	13: 28,018,516	W25R	probably damaging	Het
Rars2	T	A	4: 34,656,855	H501Q	possibly damaging	Het
Ryr2	T	C	13: 11,726,953	D2114G	probably damaging	Het
Serinc2	G	T	4: 130,255,521	T351K	possibly damaging	Het
Slc22a12	A	G	19: 6,537,851	F358L	probably damaging	Het
Sorcs2	A	C	5: 36,029,083	V905G	probably damaging	Het
Tekt3	G	C	11: 63,094,747	A460P	probably damaging	Het
Tm4sf1	T	G	3: 57,292,868	I109L	possibly damaging	Het
Tmc5	A	T	7: 118,670,725	E899D	probably damaging	Het
Tmem268	C	T	4: 63,568,509	P90S	probably damaging	Het
Trim38	A	G	13: 23,782,734	M55V	probably benign	Het
Trip10	T	G	17: 57,250,963	V50G	probably damaging	Het
Usp25	T	A	16: 77,115,054	C990*	probably null	Het
Uts2	A	G	4: 150,999,049	D39G	probably benign	Het
Vezf1	T	A	11: 88,073,734	C49*	probably null	Het
Wee2	T	A	6: 40,463,212	N431K	probably null	Het
Yeats2	C	A	16: 20,207,763	Y796*	probably null	Het
Zfp592	G	A	7: 81,037,897	G890D	possibly damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	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
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
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
R7703:Myh7b	UTSW	2	155620436	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155620403	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAAGAGCTCTCAACCACGG -3'
(R):5'- ACTGAACGGGAATAGTGATTCAC -3'

Sequencing Primer
(F):5'- CTCCAGTCTGCATCCATCAGGG -3'
(R):5'- CGGGAATAGTGATTCACTTCAATGC -3'

Posted On

2017-03-31