Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Myh7b'

261748

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1697 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 155620134 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 317 (S317R)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

AlphaFold

A2AQP0

Predicted Effect

probably damaging
Transcript: ENSMUST00000092995
AA Change: S317R

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

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: S317R

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

Meta Mutation Damage Score

0.1687

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

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
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9573	A	C	17: 35,620,648		probably benign	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	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
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
R1632:Myh7b	UTSW	2	155620525	missense	probably benign	0.04
R1694:Myh7b	UTSW	2	155613193	missense	probably damaging	0.99
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
R9583:Myh7b	UTSW	2	155617721	missense	probably damaging	1.00
R9657:Myh7b	UTSW	2	155614043	missense	probably damaging	1.00
R9738:Myh7b	UTSW	2	155614043	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGCTCAGGTTACAGAGAAGCCC -3'
(R):5'- TATGAGTCCTTGAGAGTCTCGCCG -3'

Sequencing Primer
(F):5'- AGGCTCAAGACTCTCTCTGA -3'
(R):5'- AGAGTCTCGCCGAGGACC -3'

Posted On

2015-01-29