Mutagenetix > Incidental Mutation

Incidental Mutation 'R7360:Myh7b'

571244

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

045446-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7360 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155453132-155476227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 155474460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 1725 (S1725L)

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 benign
Transcript: ENSMUST00000092995
AA Change: S1725L

PolyPhen 2 Score 0.385 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: S1725L

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (54/54)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	G	C	4: 106,606,548 (GRCm39)	P534A	possibly damaging	Het
Arhgef26	T	A	3: 62,355,626 (GRCm39)	Y733N	possibly damaging	Het
Aste1	G	T	9: 105,274,835 (GRCm39)	M358I	probably damaging	Het
B4galnt3	C	T	6: 120,209,940 (GRCm39)	W61*	probably null	Het
Brd9	C	T	13: 74,092,942 (GRCm39)	R311W	probably benign	Het
Cdkn1c	T	C	7: 143,014,431 (GRCm39)	D5G	possibly damaging	Het
Cerk	A	G	15: 86,043,327 (GRCm39)	F158S	probably damaging	Het
Clec2m	C	T	6: 129,303,710 (GRCm39)	R85H	probably benign	Het
Cnot4	T	A	6: 35,041,941 (GRCm39)	E235V	probably damaging	Het
Crmp1	T	C	5: 37,433,624 (GRCm39)	V275A	possibly damaging	Het
Dcbld2	C	A	16: 58,285,683 (GRCm39)		probably null	Het
Dip2a	T	C	10: 76,114,394 (GRCm39)	R1029G	probably damaging	Het
Dnaaf1	A	G	8: 120,304,090 (GRCm39)	T43A	probably benign	Het
Eaf2	C	T	16: 36,648,514 (GRCm39)	S2N	probably benign	Het
Eif2b4	T	C	5: 31,348,719 (GRCm39)	D164G	probably benign	Het
Fpgs	T	C	2: 32,584,005 (GRCm39)	Y45C	possibly damaging	Het
Gm1527	C	T	3: 28,968,691 (GRCm39)	Q248*	probably null	Het
Gm29666	C	T	15: 84,798,469 (GRCm39)	A31T	unknown	Het
Gmip	C	A	8: 70,263,892 (GRCm39)	A112D	probably damaging	Het
Hibadh	C	T	6: 52,617,197 (GRCm39)	G13S	probably benign	Het
Hmcn1	A	T	1: 150,494,597 (GRCm39)	V4164D	probably damaging	Het
Kif15	A	T	9: 122,820,202 (GRCm39)	N580I	probably benign	Het
Krt25	G	A	11: 99,208,232 (GRCm39)	T332M	probably benign	Het
Krt88	G	T	15: 101,345,643 (GRCm39)		probably benign	Het
Lrrk2	T	C	15: 91,615,858 (GRCm39)		probably null	Het
Mapkapk5	A	G	5: 121,675,169 (GRCm39)		probably benign	Het
Nckap1l	T	G	15: 103,384,526 (GRCm39)		probably null	Het
Nphp3	A	G	9: 103,893,277 (GRCm39)		probably null	Het
Obscn	A	C	11: 58,973,185 (GRCm39)	V1996G	probably damaging	Het
Or14j8	T	A	17: 38,263,900 (GRCm39)	N5I	probably damaging	Het
Or4a66	A	T	2: 88,531,331 (GRCm39)	V114E	probably damaging	Het
Parp8	T	C	13: 117,032,307 (GRCm39)	T289A	probably benign	Het
Pcsk5	T	C	19: 17,492,577 (GRCm39)	K932R	probably benign	Het
Pde4dip	T	C	3: 97,625,632 (GRCm39)	D1322G	probably benign	Het
Peli3	A	T	19: 4,985,103 (GRCm39)	M136K	possibly damaging	Het
Pgm5	A	G	19: 24,812,181 (GRCm39)	I117T	probably damaging	Het
Ppm1g	T	C	5: 31,360,621 (GRCm39)	D478G	probably damaging	Het
Ppp2r5c	A	G	12: 110,541,272 (GRCm39)	T474A	probably benign	Het
Ptger3	T	C	3: 157,272,764 (GRCm39)	V37A	probably benign	Het
Ptprz1	T	C	6: 23,000,906 (GRCm39)	S999P	probably damaging	Het
Pygl	C	T	12: 70,274,306 (GRCm39)	G18S	probably benign	Het
Rest	T	C	5: 77,428,976 (GRCm39)	V465A	probably benign	Het
Sart1	T	C	19: 5,433,231 (GRCm39)	D422G	probably damaging	Het
Sgk1	A	G	10: 21,869,972 (GRCm39)	M4V	probably benign	Het
Slc33a1	A	G	3: 63,855,075 (GRCm39)	V395A	possibly damaging	Het
Slc38a11	A	T	2: 65,184,139 (GRCm39)	S171T	possibly damaging	Het
Slc4a2	T	A	5: 24,634,713 (GRCm39)	S76T	probably benign	Het
Spata31h1	T	C	10: 82,132,341 (GRCm39)	D223G	unknown	Het
Ssc4d	T	A	5: 135,994,965 (GRCm39)	S184C	probably damaging	Het
Tspoap1	A	G	11: 87,669,347 (GRCm39)	Y1540C	probably benign	Het
Ube3a	T	A	7: 58,926,383 (GRCm39)	L408Q	probably damaging	Het
Usp43	C	A	11: 67,767,155 (GRCm39)		probably null	Het
Zan	A	C	5: 137,385,232 (GRCm39)	V5067G	unknown	Het
Zfp180	C	A	7: 23,804,915 (GRCm39)	L445I	probably damaging	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
R4697:Myh7b	UTSW	2	155,471,242 (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
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'- TGCAGGCTCAACTCAAGGAG -3'
(R):5'- TTCATCCGTTCCAGGTGTGC -3'

Sequencing Primer
(F):5'- GCTCAACTCAAGGAGGAACAAGC -3'
(R):5'- CATCATGGCTGCCTGGATG -3'

Posted On

2019-09-13