Mutagenetix > Incidental Mutation

Incidental Mutation 'R9311:Myh7b'

705534

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9311 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155453132-155476227 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155463253 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 495 (H495R)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000092995
AA Change: H495R

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

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: H495R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (61/61)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	C	9: 99,495,816 (GRCm39)	I84T	possibly damaging	Het
Adad2	G	T	8: 120,341,986 (GRCm39)	R268L	probably damaging	Het
Agxt2	A	T	15: 10,380,733 (GRCm39)	N208I	probably damaging	Het
Brsk1	G	T	7: 4,709,722 (GRCm39)		probably null	Het
Cd40	A	T	2: 164,912,667 (GRCm39)	Q235L	possibly damaging	Het
Cdcp3	A	T	7: 130,859,490 (GRCm39)	D1137V	unknown	Het
Cln6	T	C	9: 62,757,900 (GRCm39)	Y220H	probably damaging	Het
Cngb1	A	T	8: 96,010,794 (GRCm39)		probably null	Het
Cpne1	A	T	2: 155,919,723 (GRCm39)	V277E	probably damaging	Het
Csf2rb2	C	T	15: 78,176,735 (GRCm39)		probably null	Het
Cyp4f15	A	G	17: 32,905,139 (GRCm39)	T41A	probably benign	Het
Dab1	T	C	4: 104,369,463 (GRCm39)		probably null	Het
Eif4e1b	C	A	13: 54,932,332 (GRCm39)	H56N	probably benign	Het
Elp3	A	T	14: 65,823,788 (GRCm39)	D78E	probably benign	Het
Ephx3	C	G	17: 32,408,290 (GRCm39)	D45H	probably benign	Het
Gabarap	T	A	11: 69,882,549 (GRCm39)	V4E	probably benign	Het
Gm5105	T	A	3: 137,755,418 (GRCm39)	D56V	unknown	Het
Gosr2	G	T	11: 103,574,693 (GRCm39)	H134Q	probably damaging	Het
Ifi204	A	G	1: 173,589,215 (GRCm39)	V72A	possibly damaging	Het
Irx1	A	G	13: 72,107,416 (GRCm39)	V422A	probably benign	Het
Kcne4	C	A	1: 78,795,824 (GRCm39)	D157E	probably benign	Het
Kctd13	A	G	7: 126,541,345 (GRCm39)	N195S	probably damaging	Het
Kirrel1	A	G	3: 87,005,123 (GRCm39)	V75A	probably benign	Het
Klkb1	T	C	8: 45,722,983 (GRCm39)	T625A	probably benign	Het
Lama5	A	G	2: 179,838,275 (GRCm39)		probably null	Het
Lifr	A	G	15: 7,208,418 (GRCm39)	I599V	possibly damaging	Het
Lin52	A	T	12: 84,576,470 (GRCm39)	E101V	probably damaging	Het
Liph	T	C	16: 21,802,680 (GRCm39)	I130V	probably benign	Het
Liph	C	T	16: 21,774,913 (GRCm39)	R428Q	probably damaging	Het
Lrrc4c	A	C	2: 97,461,080 (GRCm39)	I569L	possibly damaging	Het
Mnat1	G	A	12: 73,214,916 (GRCm39)	V78I	probably benign	Het
Msln	C	T	17: 25,971,990 (GRCm39)	D76N	probably benign	Het
Ndst4	C	T	3: 125,518,385 (GRCm39)	S354L	probably benign	Het
Nfu1	T	C	6: 86,986,926 (GRCm39)	V15A	probably benign	Het
Nphp4	T	C	4: 152,608,714 (GRCm39)	S441P	probably damaging	Het
Nuak1	T	C	10: 84,214,090 (GRCm39)		probably null	Het
Or1j20	A	T	2: 36,760,405 (GRCm39)	I276F	probably damaging	Het
Or5h27	A	T	16: 59,006,106 (GRCm39)	C247S	unknown	Het
Or5w22	A	G	2: 87,362,358 (GRCm39)		probably benign	Het
Or8b3b	A	G	9: 38,583,925 (GRCm39)	S272P	probably damaging	Het
Palld	A	G	8: 61,978,189 (GRCm39)	V1109A	unknown	Het
Pik3c3	G	A	18: 30,445,666 (GRCm39)	R551H	probably benign	Het
Plcb1	G	A	2: 135,189,385 (GRCm39)	V838I	probably benign	Het
Plppr4	G	T	3: 117,119,518 (GRCm39)	T297K	probably damaging	Het
Ptprd	A	G	4: 76,051,320 (GRCm39)	I67T	probably benign	Het
Rb1cc1	T	A	1: 6,310,539 (GRCm39)	N312K	probably damaging	Het
Sh3glb1	A	C	3: 144,397,659 (GRCm39)		probably null	Het
Siglec1	C	T	2: 130,916,013 (GRCm39)	C1283Y	probably damaging	Het
Spns1	T	C	7: 125,972,995 (GRCm39)	I204V	probably damaging	Het
Sprr5	T	G	3: 92,440,397 (GRCm39)	Q14P	unknown	Het
Supt6	T	C	11: 78,116,284 (GRCm39)	Y693C	probably damaging	Het
Taar9	A	G	10: 23,985,152 (GRCm39)	V94A	probably damaging	Het
Tchp	T	C	5: 114,846,877 (GRCm39)	S55P	probably benign	Het
Tmem132b	A	G	5: 125,863,029 (GRCm39)	H678R	possibly damaging	Het
Tnr	G	C	1: 159,677,663 (GRCm39)	G16A	probably benign	Het
Top3b	T	C	16: 16,700,563 (GRCm39)		probably null	Het
Tpmt	A	G	13: 47,185,892 (GRCm39)		probably null	Het
Treh	G	A	9: 44,592,655 (GRCm39)	V87I	probably benign	Het
Ttc4	T	C	4: 106,535,963 (GRCm39)	D33G	probably benign	Het
Usp47	A	G	7: 111,703,257 (GRCm39)	D1171G	probably benign	Het
Vmn2r61	G	T	7: 41,950,092 (GRCm39)	L837F	possibly damaging	Het
Vmn2r86	T	A	10: 130,288,440 (GRCm39)	N354Y	probably damaging	Het
Vmn2r88	C	G	14: 51,650,503 (GRCm39)	A72G	probably benign	Het
Zscan4b	C	A	7: 10,635,950 (GRCm39)	V126F	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
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
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'- CCTGGACATCGCTGGTTTTG -3'
(R):5'- ATTGATAGGCAGCTTATCCAGG -3'

Sequencing Primer
(F):5'- AGATTTTTGAGGTGAGAAGAGCTC -3'
(R):5'- AGCTTATCCAGGCCTGCAC -3'

Posted On

2022-03-25