Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03382:Myh7b'

420727

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL03382

Quality Score

Status

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155623479 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 701 (R701C)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000092995
AA Change: R701C

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

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: R701C

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

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930021J03Rik	C	T	19: 29,717,276	G1606R	probably damaging	Het
Aff1	A	G	5: 103,841,060	D831G	possibly damaging	Het
Amer2	A	G	14: 60,379,882	K509E	possibly damaging	Het
Ankrd6	T	C	4: 32,808,771	K449E	probably damaging	Het
Atp8b2	G	A	3: 89,948,521	P459L	probably benign	Het
Atr	C	T	9: 95,920,822	R1846*	probably null	Het
Ccdc159	C	A	9: 21,931,696		probably null	Het
Ccna1	A	C	3: 55,047,277	Y338D	probably damaging	Het
Cpq	A	T	15: 33,212,943	E36V	probably damaging	Het
Cyp2c23	A	G	19: 44,014,932	I268T	probably damaging	Het
Dctn2	G	T	10: 127,278,188	Q332H	probably damaging	Het
Dnah17	T	A	11: 118,081,943	I2055F	probably damaging	Het
Dnmt3b	A	G	2: 153,686,359	H764R	probably damaging	Het
Gphn	T	A	12: 78,481,313	I135K	probably damaging	Het
Hnrnpul1	A	G	7: 25,750,984	M1T	probably null	Het
Htra4	T	C	8: 25,029,698	D406G	probably benign	Het
Klk10	G	T	7: 43,784,459		probably benign	Het
Lilrb4a	T	A	10: 51,491,520	W53R	probably benign	Het
Magel2	T	C	7: 62,378,713	V455A	probably benign	Het
Mrgprb5	T	C	7: 48,168,694	T98A	probably benign	Het
Mrps35	T	A	6: 147,049,875	C76*	probably null	Het
Nbeal1	G	A	1: 60,261,586		probably null	Het
Neb	T	A	2: 52,325,708	M196L	probably benign	Het
Nmd3	A	G	3: 69,735,088	K207R	probably damaging	Het
Plxna4	C	T	6: 32,202,194	R962Q	probably benign	Het
Pom121	T	C	5: 135,392,407	K230E	unknown	Het
Psme4	A	G	11: 30,807,788	D307G	possibly damaging	Het
Rnf41	T	G	10: 128,438,280	M267R	possibly damaging	Het
Sis	T	C	3: 72,928,719	N846D	probably benign	Het
Slc22a19	T	A	19: 7,681,862	I463L	probably benign	Het
Slc25a39	A	T	11: 102,406,204		probably null	Het
Slc35b2	C	T	17: 45,566,645	R233C	probably damaging	Het
Slc4a4	T	C	5: 89,228,836	L983P	probably damaging	Het
Sp110	A	C	1: 85,577,329	F434C	probably benign	Het
Tbc1d10a	A	G	11: 4,209,984	Y123C	probably damaging	Het
Thbs4	A	C	13: 92,769,548	I395S	probably benign	Het
Triml2	A	G	8: 43,193,739	T422A	probably benign	Het
Ubn2	T	C	6: 38,440,447		probably benign	Het
Vmn1r15	T	A	6: 57,258,570	M141K	probably benign	Het
Vmn2r80	A	G	10: 79,169,528	E333G	probably damaging	Het
Zfp169	T	C	13: 48,491,163		probably benign	Het
Zfp942	G	A	17: 21,929,102	P182L	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
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
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

Posted On

2016-08-02