Mutagenetix > Incidental Mutations

Incidental Mutation 'R1632:Myh7b'

172832

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

039669-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1632 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155620525 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 383 (S383G)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000092995
AA Change: S383G

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: S383G

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: 99.1%
3x: 98.2%
10x: 95.8%
20x: 90.9%

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	T	C	9: 51,290,402	D118G	probably damaging	Het
AF529169	T	A	9: 89,602,360	H328L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Arhgap28	A	T	17: 67,849,074	Y696N	probably damaging	Het
C77080	A	G	4: 129,222,666	M735T	possibly damaging	Het
Cachd1	A	G	4: 100,966,972	T537A	probably benign	Het
Capn15	A	T	17: 25,960,665	F841Y	probably damaging	Het
Card10	G	A	15: 78,791,220	R396*	probably null	Het
Chd9	A	T	8: 90,956,707	K592*	probably null	Het
Cyp2j8	T	A	4: 96,447,324	H411L	probably benign	Het
Dhcr24	G	T	4: 106,585,951	M394I	probably benign	Het
Dhrs3	T	C	4: 144,893,546	V11A	probably benign	Het
Dync1li2	A	T	8: 104,437,491	I134N	probably damaging	Het
Enpp4	G	T	17: 44,099,653	S344Y	probably damaging	Het
Ephb3	T	C	16: 21,212,937	S14P	probably benign	Het
Fancm	T	G	12: 65,130,331	I1983S	probably damaging	Het
Fndc1	T	C	17: 7,773,200	T555A	unknown	Het
Gemin4	A	T	11: 76,210,989	M982K	probably benign	Het
Gtpbp2	A	G	17: 46,168,592	R590G	probably benign	Het
H2-M3	G	A	17: 37,271,163	R170H	probably benign	Het
Hoxa13	G	T	6: 52,259,937	N278K	probably damaging	Het
Hspb3	A	G	13: 113,663,053	V147A	probably benign	Het
Il6st	G	T	13: 112,504,332	D820Y	possibly damaging	Het
Kdm7a	A	G	6: 39,152,898	V448A	probably benign	Het
Kmt2b	T	C	7: 30,583,962	D991G	probably damaging	Het
Kri1	T	C	9: 21,282,211	D140G	possibly damaging	Het
Limk2	A	G	11: 3,346,250	L399P	probably damaging	Het
Lrrc9	T	A	12: 72,460,020		probably null	Het
Map2	C	T	1: 66,415,086	T1045M	possibly damaging	Het
Map4k5	T	C	12: 69,828,047	I321V	probably benign	Het
Mpp5	T	A	12: 78,797,038	Y5*	probably null	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nostrin	A	G	2: 69,175,734	K254R	probably benign	Het
Nphp1	G	T	2: 127,770,392	P212T	probably benign	Het
Olfr988	A	T	2: 85,353,242	M228K	possibly damaging	Het
Pclo	A	C	5: 14,680,003		probably benign	Het
Phf19	G	A	2: 34,911,619	R60W	probably damaging	Het
Psg18	G	A	7: 18,350,899	P91S	probably benign	Het
Rttn	C	T	18: 89,009,336	T525I	probably benign	Het
Ryr1	T	C	7: 29,094,261	M1268V	probably benign	Het
Slc25a2	T	C	18: 37,637,687	E263G	possibly damaging	Het
Slc32a1	C	T	2: 158,613,890	A155V	possibly damaging	Het
Slc6a19	A	T	13: 73,689,908		probably null	Het
Socs4	A	G	14: 47,289,577		probably benign	Het
Tas2r118	A	G	6: 23,969,261	I267T	probably benign	Het
Tpte	G	A	8: 22,349,347	C470Y	probably damaging	Het
Usp17la	A	T	7: 104,860,911	H241L	probably benign	Het
Vmn2r72	T	A	7: 85,751,792	I140F	probably benign	Het
Zfp329	T	C	7: 12,810,949	D216G	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
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
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCGCCACTGATGTACGATGCTCTG -3'
(R):5'- ACATGGCTTGGATAAGGGCAACAAC -3'

Sequencing Primer
(F):5'- AAGGACTCATATTTCTCTGAGCCTG -3'
(R):5'- CAACAACGTGGGCACTTG -3'

Posted On

2014-04-24