Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03061:Myh7b'

409439

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 #

IGL03061

Quality Score

Status

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155620111 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 309 (N309S)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092995
AA Change: N309S

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: N309S

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl1	T	A	8: 46,508,337	N106K	probably damaging	Het
Ak8	T	C	2: 28,742,755		probably benign	Het
BC016579	C	T	16: 45,629,486	G190S	probably damaging	Het
C4bp	A	G	1: 130,636,717	V410A	probably damaging	Het
Cacna2d3	T	C	14: 29,058,431	T658A	probably damaging	Het
Cadps2	T	C	6: 23,287,660		probably null	Het
Car10	G	T	11: 93,490,525	V105F	probably damaging	Het
Car15	C	T	16: 17,835,385	C306Y	possibly damaging	Het
Casr	C	T	16: 36,495,888	A530T	probably benign	Het
Col5a3	A	G	9: 20,797,572		probably null	Het
Creld1	A	G	6: 113,488,097	E95G	probably damaging	Het
Dcstamp	T	A	15: 39,760,397	D366E	possibly damaging	Het
Dnah11	T	C	12: 117,903,121	Y4095C	probably damaging	Het
Eps8l2	A	G	7: 141,357,235		probably benign	Het
Gsn	T	C	2: 35,282,459		probably benign	Het
Ifi27	T	C	12: 103,435,544	V30A	possibly damaging	Het
Ifit1bl2	C	T	19: 34,619,724	R164Q	probably benign	Het
Impg2	T	C	16: 56,268,416	S1102P	probably damaging	Het
Kif24	G	T	4: 41,394,323	P984Q	possibly damaging	Het
Krtap29-1	T	A	11: 99,978,629	Q142L	possibly damaging	Het
Lpar6	C	T	14: 73,239,070	T157I	probably benign	Het
Lrrc32	A	T	7: 98,499,422	T470S	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Mroh9	A	T	1: 163,026,502	H776Q	probably damaging	Het
Myh7	T	C	14: 54,991,204		probably benign	Het
Myo5b	G	A	18: 74,580,544		probably benign	Het
Myo5b	A	T	18: 74,634,559	T313S	probably benign	Het
Npas4	C	T	19: 4,986,337	V600M	probably damaging	Het
Nrxn3	T	A	12: 89,511,928	Y557*	probably null	Het
Olfr169	T	C	16: 19,566,713	T57A	possibly damaging	Het
Olfr552	A	G	7: 102,604,739	I128M	probably damaging	Het
Olfr968	T	A	9: 39,772,162	T213S	probably benign	Het
Pcdh15	A	G	10: 74,317,011	I383V	probably damaging	Het
Pdzrn3	C	A	6: 101,151,855	D617Y	probably damaging	Het
Prodh2	A	T	7: 30,512,833	K408*	probably null	Het
Ptprs	T	C	17: 56,418,830	I1052V	probably damaging	Het
Rpl14	T	C	9: 120,572,127	V12A	probably damaging	Het
Sf3a1	C	T	11: 4,175,493	R428C	probably damaging	Het
Sgsm2	G	T	11: 74,851,136	N1009K	probably damaging	Het
Slc28a2	A	T	2: 122,454,499	I323F	probably damaging	Het
Snx19	T	A	9: 30,433,632	F676I	probably damaging	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Tg	A	C	15: 66,671,405	D56A	probably damaging	Het
Tln1	G	T	4: 43,545,694	A928E	probably damaging	Het
Tmem94	T	C	11: 115,792,421	S677P	possibly damaging	Het
Ttc41	C	A	10: 86,736,857	H698N	possibly damaging	Het
Vcan	T	C	13: 89,703,275	T1189A	probably benign	Het
Vmn1r215	G	T	13: 23,075,918	V43F	probably damaging	Het
Vmn2r28	A	T	7: 5,484,016	N549K	probably damaging	Het
Zfp598	T	C	17: 24,679,592	V455A	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
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
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
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Posted On

2016-08-02