Mutagenetix > Incidental Mutation

Incidental Mutation 'R4697:Myh7b'

386440

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

041947-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4697 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

155453132-155476227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155471242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1130 (E1130G)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

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 damaging
Transcript: ENSMUST00000092995
AA Change: E1130G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: E1130G

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: ENSMUST00000154656

Meta Mutation Damage Score

0.3487

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

96% (75/78)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	T	C	6: 121,615,243 (GRCm39)	M1T	probably null	Het
Aatf	T	A	11: 84,339,964 (GRCm39)	D449V	probably damaging	Het
Acbd3	T	A	1: 180,549,509 (GRCm39)		probably benign	Het
Bicc1	T	A	10: 70,789,314 (GRCm39)	I366F	possibly damaging	Het
Ccdc74a	T	C	16: 17,467,613 (GRCm39)	S184P	possibly damaging	Het
Cntn4	T	C	6: 106,502,446 (GRCm39)	V401A	probably damaging	Het
Cux2	T	C	5: 122,011,816 (GRCm39)	T540A	probably damaging	Het
Disp2	G	T	2: 118,622,165 (GRCm39)	E966*	probably null	Het
Dpp7	A	G	2: 25,244,931 (GRCm39)	Y209H	probably benign	Het
Dstyk	T	A	1: 132,377,225 (GRCm39)	F277Y	probably damaging	Het
Dtx1	A	T	5: 120,832,473 (GRCm39)		probably null	Het
Ear-ps2	G	A	14: 44,284,517 (GRCm39)		noncoding transcript	Het
Ednra	T	C	8: 78,391,624 (GRCm39)	H422R	probably benign	Het
Erlec1	T	A	11: 30,902,640 (GRCm39)	I67F	probably benign	Het
Fam161b	G	A	12: 84,395,332 (GRCm39)		probably benign	Het
Gata5	A	T	2: 179,969,172 (GRCm39)	C345*	probably null	Het
Glmp	T	C	3: 88,235,581 (GRCm39)	V47A	probably damaging	Het
Gm9762	T	A	3: 78,873,857 (GRCm39)		noncoding transcript	Het
Gnas	A	T	2: 174,139,873 (GRCm39)	D14V	probably damaging	Het
Gnl3	T	C	14: 30,739,286 (GRCm39)	S53G	probably damaging	Het
Grhl3	C	T	4: 135,275,777 (GRCm39)	V527M	probably damaging	Het
Hoxd10	T	A	2: 74,524,531 (GRCm39)	L281*	probably null	Het
Kif16b	T	G	2: 142,532,614 (GRCm39)	Y1175S	probably benign	Het
Kif2b	A	G	11: 91,467,672 (GRCm39)	S204P	probably benign	Het
Klhl40	T	A	9: 121,607,800 (GRCm39)	I320N	probably damaging	Het
Ksr2	G	A	5: 117,846,212 (GRCm39)	R693Q	probably damaging	Het
Mis12	A	G	11: 70,916,152 (GRCm39)	K62E	possibly damaging	Het
Mlc1	A	G	15: 88,858,980 (GRCm39)	C102R	probably damaging	Het
Muc5b	T	C	7: 141,411,098 (GRCm39)	I1348T	unknown	Het
Nat8f4	T	C	6: 85,878,368 (GRCm39)	T52A	probably benign	Het
Nxpe2	C	A	9: 48,231,821 (GRCm39)	V379L	probably benign	Het
Or10ad1c	G	A	15: 98,084,749 (GRCm39)	R310W	probably damaging	Het
Or4c1	T	A	2: 89,133,247 (GRCm39)	S230C	probably damaging	Het
Or4c1	C	A	2: 89,133,246 (GRCm39)	S230I	possibly damaging	Het
Or5b111	A	T	19: 13,291,081 (GRCm39)	D189E	probably benign	Het
Or5b12	C	T	19: 12,897,298 (GRCm39)	C125Y	probably damaging	Het
Pcdhga7	A	T	18: 37,850,261 (GRCm39)	Y756F	probably damaging	Het
Pcsk6	T	A	7: 65,608,989 (GRCm39)	Y284N	probably damaging	Het
Pdcd11	T	C	19: 47,114,786 (GRCm39)	V1367A	possibly damaging	Het
Postn	T	A	3: 54,282,492 (GRCm39)	N484K	probably damaging	Het
Prkd3	C	T	17: 79,268,600 (GRCm39)	V572I	probably benign	Het
Qser1	T	C	2: 104,617,528 (GRCm39)	S1005G	probably benign	Het
Radil	G	T	5: 142,472,556 (GRCm39)	D951E	probably benign	Het
Ripk1	C	T	13: 34,211,925 (GRCm39)	R352*	probably null	Het
Sacs	T	C	14: 61,450,196 (GRCm39)	F4081L	probably benign	Het
Sbf1	A	G	15: 89,199,288 (GRCm39)	V11A	possibly damaging	Het
Sgip1	T	A	4: 102,791,784 (GRCm39)	F536I	probably damaging	Het
Slc45a1	A	G	4: 150,722,741 (GRCm39)	L381P	probably damaging	Het
Smarcad1	C	T	6: 65,029,625 (GRCm39)	P71L	probably benign	Het
Spns1	T	A	7: 125,976,209 (GRCm39)	D14V	probably damaging	Het
Sv2c	T	A	13: 96,122,526 (GRCm39)	I417F	possibly damaging	Het
Tas2r113	T	A	6: 132,870,479 (GRCm39)	M169K	probably benign	Het
Tgm1	A	T	14: 55,943,138 (GRCm39)	N567K	probably benign	Het
Thoc2l	A	G	5: 104,670,106 (GRCm39)	K1543E	probably benign	Het
Tln2	C	T	9: 67,302,743 (GRCm39)	R76Q	probably damaging	Het
Trpm6	T	C	19: 18,831,155 (GRCm39)	V1340A	probably benign	Het
Tspan18	A	T	2: 93,142,375 (GRCm39)		probably null	Het
Txndc11	C	T	16: 10,902,178 (GRCm39)	V679I	probably damaging	Het
Usf1	G	T	1: 171,244,532 (GRCm39)	G144V	possibly damaging	Het
Vmn1r59	T	C	7: 5,457,451 (GRCm39)	Y103C	probably damaging	Het
Vmn2r23	A	T	6: 123,718,785 (GRCm39)	I713F	probably damaging	Het
Vmn2r79	A	T	7: 86,687,168 (GRCm39)	I850F	probably damaging	Het
Vps35l	T	A	7: 118,390,671 (GRCm39)	I455N	probably damaging	Het
Wdr90	C	T	17: 26,074,337 (GRCm39)	R676H	probably benign	Het
Zfp867	G	A	11: 59,354,487 (GRCm39)	R281W	probably damaging	Het
Zfp939	T	C	7: 39,122,366 (GRCm39)		noncoding transcript	Het

Other mutations in Myh7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00931:Myh7b	APN	2	155,472,212 (GRCm39)	missense	probably damaging	0.99
IGL01604:Myh7b	APN	2	155,474,327 (GRCm39)	missense	probably damaging	0.96
IGL02179:Myh7b	APN	2	155,456,411 (GRCm39)	missense	probably benign	0.02
IGL02729:Myh7b	APN	2	155,467,609 (GRCm39)	missense	probably damaging	1.00
IGL02804:Myh7b	APN	2	155,467,643 (GRCm39)	missense	probably damaging	1.00
IGL02851:Myh7b	APN	2	155,470,747 (GRCm39)	missense	probably damaging	1.00
IGL02956:Myh7b	APN	2	155,467,874 (GRCm39)	missense	possibly damaging	0.95
IGL02956:Myh7b	APN	2	155,474,823 (GRCm39)	missense	probably damaging	1.00
IGL02992:Myh7b	APN	2	155,463,330 (GRCm39)	missense	probably damaging	0.99
IGL03060:Myh7b	APN	2	155,474,671 (GRCm39)	missense	probably damaging	1.00
IGL03061:Myh7b	APN	2	155,462,031 (GRCm39)	missense	possibly damaging	0.93
IGL03226:Myh7b	APN	2	155,462,403 (GRCm39)	nonsense	probably null
IGL03246:Myh7b	APN	2	155,459,792 (GRCm39)	missense	probably damaging	1.00
IGL03382:Myh7b	APN	2	155,465,399 (GRCm39)	missense	probably damaging	1.00
euclidian	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
imaginary	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
Irrational	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
Muscoli	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0015:Myh7b	UTSW	2	155,464,206 (GRCm39)	missense	probably damaging	1.00
R0109:Myh7b	UTSW	2	155,453,594 (GRCm39)	missense	possibly damaging	0.92
R0309:Myh7b	UTSW	2	155,472,592 (GRCm39)	unclassified	probably benign
R0567:Myh7b	UTSW	2	155,468,318 (GRCm39)	missense	probably damaging	1.00
R0619:Myh7b	UTSW	2	155,453,642 (GRCm39)	missense	probably benign	0.00
R0927:Myh7b	UTSW	2	155,462,040 (GRCm39)	missense	probably damaging	1.00
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0973:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R0974:Myh7b	UTSW	2	155,462,347 (GRCm39)	missense	probably benign
R1137:Myh7b	UTSW	2	155,464,634 (GRCm39)	missense	probably damaging	1.00
R1261:Myh7b	UTSW	2	155,463,003 (GRCm39)	missense	probably benign	0.00
R1268:Myh7b	UTSW	2	155,455,966 (GRCm39)	nonsense	probably null
R1537:Myh7b	UTSW	2	155,473,707 (GRCm39)	missense	probably damaging	0.96
R1632:Myh7b	UTSW	2	155,462,445 (GRCm39)	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155,455,113 (GRCm39)	missense	probably damaging	0.99
R1697:Myh7b	UTSW	2	155,462,054 (GRCm39)	missense	probably damaging	1.00
R1730:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R1762:Myh7b	UTSW	2	155,472,778 (GRCm39)	missense	probably damaging	0.96
R1783:Myh7b	UTSW	2	155,467,592 (GRCm39)	missense	possibly damaging	0.73
R2105:Myh7b	UTSW	2	155,471,377 (GRCm39)	missense	probably benign	0.00
R2140:Myh7b	UTSW	2	155,462,043 (GRCm39)	missense	probably damaging	1.00
R2971:Myh7b	UTSW	2	155,474,175 (GRCm39)	missense	probably benign	0.36
R3838:Myh7b	UTSW	2	155,474,909 (GRCm39)	missense	probably damaging	1.00
R4074:Myh7b	UTSW	2	155,460,678 (GRCm39)	missense	probably damaging	0.96
R4191:Myh7b	UTSW	2	155,475,319 (GRCm39)	missense	probably benign	0.32
R4689:Myh7b	UTSW	2	155,472,434 (GRCm39)	missense	possibly damaging	0.75
R4695:Myh7b	UTSW	2	155,456,097 (GRCm39)	missense	probably damaging	1.00
R4771:Myh7b	UTSW	2	155,468,314 (GRCm39)	nonsense	probably null
R4794:Myh7b	UTSW	2	155,465,186 (GRCm39)	missense	probably benign	0.00
R4842:Myh7b	UTSW	2	155,475,909 (GRCm39)	missense	probably benign	0.45
R4871:Myh7b	UTSW	2	155,455,420 (GRCm39)	missense	probably benign	0.18
R5022:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5023:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5025:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5050:Myh7b	UTSW	2	155,473,670 (GRCm39)	missense	probably benign	0.00
R5055:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5056:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5161:Myh7b	UTSW	2	155,474,293 (GRCm39)	missense	possibly damaging	0.75
R5284:Myh7b	UTSW	2	155,474,234 (GRCm39)	missense	probably benign
R5422:Myh7b	UTSW	2	155,472,954 (GRCm39)	missense	probably damaging	0.99
R5505:Myh7b	UTSW	2	155,474,592 (GRCm39)	missense	probably benign	0.01
R5946:Myh7b	UTSW	2	155,463,315 (GRCm39)	missense	probably damaging	1.00
R6089:Myh7b	UTSW	2	155,464,409 (GRCm39)	missense	probably damaging	1.00
R6103:Myh7b	UTSW	2	155,460,663 (GRCm39)	missense	probably damaging	1.00
R6233:Myh7b	UTSW	2	155,473,719 (GRCm39)	missense	possibly damaging	0.85
R6292:Myh7b	UTSW	2	155,474,316 (GRCm39)	missense	probably damaging	1.00
R6350:Myh7b	UTSW	2	155,470,680 (GRCm39)	missense	probably benign	0.00
R6484:Myh7b	UTSW	2	155,470,563 (GRCm39)	missense	probably benign	0.05
R6760:Myh7b	UTSW	2	155,462,038 (GRCm39)	nonsense	probably null
R6896:Myh7b	UTSW	2	155,464,488 (GRCm39)	critical splice donor site	probably null
R6945:Myh7b	UTSW	2	155,464,152 (GRCm39)	missense	possibly damaging	0.95
R7020:Myh7b	UTSW	2	155,473,671 (GRCm39)	missense	possibly damaging	0.56
R7052:Myh7b	UTSW	2	155,456,053 (GRCm39)	missense	probably damaging	1.00
R7102:Myh7b	UTSW	2	155,464,119 (GRCm39)	missense	probably damaging	1.00
R7248:Myh7b	UTSW	2	155,464,106 (GRCm39)	missense	probably damaging	1.00
R7303:Myh7b	UTSW	2	155,460,660 (GRCm39)	missense	probably damaging	1.00
R7360:Myh7b	UTSW	2	155,474,460 (GRCm39)	missense	probably benign	0.38
R7652:Myh7b	UTSW	2	155,474,156 (GRCm39)	missense	probably damaging	0.99
R7678:Myh7b	UTSW	2	155,459,698 (GRCm39)	splice site	probably null
R7703:Myh7b	UTSW	2	155,462,356 (GRCm39)	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155,462,323 (GRCm39)	missense	probably damaging	1.00
R7923:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign
R7967:Myh7b	UTSW	2	155,456,119 (GRCm39)	splice site	probably null
R8045:Myh7b	UTSW	2	155,455,101 (GRCm39)	missense	probably benign	0.00
R8176:Myh7b	UTSW	2	155,467,886 (GRCm39)	missense	probably benign	0.06
R8272:Myh7b	UTSW	2	155,474,824 (GRCm39)	missense	probably damaging	1.00
R8560:Myh7b	UTSW	2	155,465,124 (GRCm39)	missense	possibly damaging	0.93
R8706:Myh7b	UTSW	2	155,453,669 (GRCm39)	critical splice donor site	probably null
R8824:Myh7b	UTSW	2	155,472,301 (GRCm39)	missense	probably benign	0.02
R8832:Myh7b	UTSW	2	155,475,182 (GRCm39)	missense	probably benign	0.00
R9079:Myh7b	UTSW	2	155,465,174 (GRCm39)	missense	probably damaging	0.97
R9151:Myh7b	UTSW	2	155,474,439 (GRCm39)	missense	probably damaging	1.00
R9311:Myh7b	UTSW	2	155,463,253 (GRCm39)	missense	probably damaging	1.00
R9332:Myh7b	UTSW	2	155,470,722 (GRCm39)	missense	probably damaging	1.00
R9357:Myh7b	UTSW	2	155,463,268 (GRCm39)	missense	probably damaging	1.00
R9388:Myh7b	UTSW	2	155,472,983 (GRCm39)	missense	probably benign	0.28
R9583:Myh7b	UTSW	2	155,459,641 (GRCm39)	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155,455,963 (GRCm39)	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155,473,089 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGGATTCGGAGCTGAGTC -3'
(R):5'- TTCCAGTTTCTGCCGGATG -3'

Sequencing Primer
(F):5'- TGAGTCAGCTGAACCTGCG -3'
(R):5'- TCGTGCCTCAGAACTGCC -3'

Posted On

2016-06-01