Mutagenetix > Incidental Mutations

Incidental Mutation 'R4191:Myh7b'

318298

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

041022-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4191 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155633399 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1876 (D1876G)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041059] [ENSMUST00000092995] [ENSMUST00000103140]

Predicted Effect

probably benign
Transcript: ENSMUST00000041059

SMART Domains

Protein: ENSMUSP00000037574
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	407	714	5.2e-135	PFAM
low complexity region	724	735	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000092995
AA Change: D1876G

PolyPhen 2 Score 0.322 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: D1876G

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

probably benign
Transcript: ENSMUST00000103140

SMART Domains

Protein: ENSMUSP00000099429
Gene: ENSMUSG00000038324

Domain	Start	End	E-Value	Type
low complexity region	2	35	N/A	INTRINSIC
low complexity region	38	53	N/A	INTRINSIC
Pfam:DUF3689	399	710	1.1e-138	PFAM
low complexity region	716	727	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124415

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143115

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154656

Meta Mutation Damage Score

0.1489

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

95% (57/60)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C19Rik	C	T	17: 47,436,637	R61H	probably damaging	Het
Abcc1	A	G	16: 14,389,864	T22A	probably damaging	Het
Ache	A	T	5: 137,291,072	I347F	probably damaging	Het
Adgrl1	C	G	8: 83,938,940	R1464G	probably benign	Het
Cdh11	T	C	8: 102,650,748	D422G	probably damaging	Het
Cdx1	C	T	18: 61,020,438	S176N	possibly damaging	Het
Csmd3	T	C	15: 47,847,271	D1536G	probably damaging	Het
Cyct	G	T	2: 76,354,191	P72Q	probably damaging	Het
Ddx19b	A	T	8: 111,011,348	L256Q	probably damaging	Het
Disp1	G	T	1: 183,089,173	A561E	probably damaging	Het
Donson	C	A	16: 91,688,592	A41S	possibly damaging	Het
Gldc	T	C	19: 30,145,658	E279G	probably damaging	Het
Gpr160	A	T	3: 30,896,714	I312F	possibly damaging	Het
H2-Eb2	G	A	17: 34,344,555		probably benign	Het
Igdcc4	A	G	9: 65,124,151	Q457R	probably benign	Het
Irf2bp2	T	C	8: 126,593,345	D31G	probably damaging	Het
Klrb1	T	A	6: 128,713,634	K42*	probably null	Het
Lrrfip1	A	T	1: 91,110,399	E446D	probably benign	Het
Macf1	A	G	4: 123,473,042	F1077S	possibly damaging	Het
Maml3	A	G	3: 51,689,969	V1098A	probably benign	Het
Mrgpra4	T	C	7: 47,981,119	S245G	probably benign	Het
Mybbp1a	A	G	11: 72,451,287	E1283G	probably damaging	Het
Myh2	A	G	11: 67,177,400	S285G	possibly damaging	Het
Nr4a2	T	C	2: 57,112,379	S21G	probably damaging	Het
Olfr1049	C	A	2: 86,255,322	V124L	probably benign	Het
Olfr1384	T	A	11: 49,513,812	M58K	probably damaging	Het
Olfr251	T	A	9: 38,378,352	M157K	probably damaging	Het
Olfr843	A	G	9: 19,249,087	V104A	probably benign	Het
Olfr934	T	A	9: 38,983,017	Q9L	probably benign	Het
Pcdhgb8	G	C	18: 37,763,541	D555H	probably damaging	Het
Pcsk6	T	C	7: 66,025,308	S476P	probably damaging	Het
Pex10	T	C	4: 155,067,905		probably null	Het
Pgf	T	C	12: 85,171,787	D63G	probably benign	Het
Piwil4	A	G	9: 14,715,000	S465P	probably damaging	Het
Plcb1	A	C	2: 135,345,090	H759P	probably damaging	Het
Pmfbp1	A	T	8: 109,527,628	M432L	probably benign	Het
Prodh	C	T	16: 18,073,640	V480I	probably benign	Het
Rmnd1	A	T	10: 4,410,809		probably benign	Het
Senp2	G	T	16: 22,046,667	W580L	probably damaging	Het
Svep1	C	T	4: 58,046,601	C3510Y	possibly damaging	Het
Tanc1	A	G	2: 59,839,013	I1274V	probably damaging	Het
Tep1	T	C	14: 50,836,806	E1874G	probably damaging	Het
Tgfbr2	T	C	9: 116,109,941	T298A	probably damaging	Het
Tlk1	G	A	2: 70,725,547	R423C	probably damaging	Het
Trove2	T	C	1: 143,770,786	I74V	probably benign	Het
Trp53rkb	T	C	2: 166,795,475	I117T	probably damaging	Het
Ttll9	A	G	2: 153,003,007	T432A	probably benign	Het
Vit	A	G	17: 78,586,826	H219R	probably benign	Het
Zfp112	A	G	7: 24,126,143	D512G	probably benign	Het
Zfyve19	A	G	2: 119,210,831	K76R	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
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
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'- GTGCGTAAACACGAGCGC -3'
(R):5'- GCTGAGGATAGAAACCACTCAC -3'

Sequencing Primer
(F):5'- CCGGGTCAAGGAGCTCGTG -3'
(R):5'- CTGCTGTAGCCATAGAAGTCCATG -3'

Posted On

2015-06-10