Mutagenetix > Incidental Mutations

Incidental Mutation 'R4689:Myh7b'

354757

Institutional Source

Beutler Lab

Gene Symbol

Myh7b

Ensembl Gene

ENSMUSG00000074652

Gene Name

myosin, heavy chain 7B, cardiac muscle, beta

Synonyms

Myh14

MMRRC Submission

041940-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4689 (G1)

Quality Score

222

Status

Validated

Chromosome

Chromosomal Location

155611212-155634307 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 155630514 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 1305 (I1305T)

Ref Sequence

ENSEMBL: ENSMUSP00000090672 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000092995
AA Change: I1305T

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000090672
Gene: ENSMUSG00000074652
AA Change: I1305T

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: ENSMUST00000153246

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154656

Meta Mutation Damage Score

0.0867

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,324,070	V336L	probably benign	Het
Acbd4	T	C	11: 103,105,368	L165P	possibly damaging	Het
Adam10	T	C	9: 70,765,954	S456P	possibly damaging	Het
Adgre4	T	C	17: 55,802,096	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,665,518	Y528*	probably null	Het
Aldh3b3	G	A	19: 3,964,516	V84M	probably damaging	Het
Cdca8	C	T	4: 124,931,103	G78E	probably damaging	Het
Cry2	T	C	2: 92,424,554	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,638,588	Y266C	probably benign	Het
Dkk4	T	C	8: 22,625,320	F62S	probably benign	Het
Dnah12	G	A	14: 26,706,839	V207I	probably benign	Het
Dthd1	T	C	5: 62,842,912	C526R	probably damaging	Het
Dubr	A	T	16: 50,732,503		noncoding transcript	Het
F5	T	C	1: 164,151,973		probably benign	Het
Flcn	A	C	11: 59,801,044	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,193,736		probably null	Het
Frem2	A	T	3: 53,547,635	D2173E	probably benign	Het
Fstl4	C	T	11: 53,068,650	Q173*	probably null	Het
Gfra3	G	A	18: 34,690,587	P381S	unknown	Het
Gm28308	C	A	6: 52,213,311		probably benign	Het
Gm8394	T	A	10: 85,314,201		noncoding transcript	Het
Gm8730	T	A	8: 102,865,747		noncoding transcript	Het
Gzmd	T	C	14: 56,131,226		probably null	Het
Hexb	A	G	13: 97,181,092	Y366H	probably damaging	Het
Hydin	A	T	8: 110,595,414	H4566L	probably benign	Het
Ifi213	G	A	1: 173,590,420	T142I	possibly damaging	Het
Kif13b	T	A	14: 64,773,064	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,949,460	C329F	unknown	Het
Larp1	G	T	11: 58,041,613	G207W	probably damaging	Het
Lfng	A	G	5: 140,614,439	D368G	probably damaging	Het
Mbd5	G	A	2: 49,258,279	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,197,263	Y301*	probably null	Het
Myo16	T	C	8: 10,438,890	V687A	probably damaging	Het
Naip2	A	T	13: 100,148,812	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,714,558	F130L	probably damaging	Het
Nos1	A	G	5: 117,879,385	N271S	probably benign	Het
Nrap	A	G	19: 56,386,026	S23P	probably damaging	Het
Olfr106-ps	A	T	17: 37,394,771	N77I	probably damaging	Het
Olfr1509	T	C	14: 52,451,214	I267T	probably benign	Het
Olfr169	A	T	16: 19,566,513	Y123*	probably null	Het
Olfr800	T	C	10: 129,660,316	V170A	probably benign	Het
Pkdcc	C	G	17: 83,215,861	C132W	probably damaging	Het
Plekhg6	G	A	6: 125,373,181	L265F	probably benign	Het
Prkaa1	A	G	15: 5,178,696	T473A	probably benign	Het
Prpf3	G	A	3: 95,836,489	Q451*	probably null	Het
Ptprh	T	A	7: 4,597,997	D127V	possibly damaging	Het
Rab36	T	C	10: 75,041,933		probably null	Het
Rasa1	A	T	13: 85,238,163	Y427*	probably null	Het
Rgs11	T	C	17: 26,204,547		probably null	Het
Serpinb13	C	T	1: 106,982,844	S66L	probably damaging	Het
Shank2	G	A	7: 144,420,605	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,836,013	M43R	probably benign	Het
Slc40a1	T	A	1: 45,912,313	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,638,539	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,236,291	T307A	probably benign	Het
Stt3a	T	C	9: 36,732,929	T705A	possibly damaging	Het
Tec	G	A	5: 72,823,637		probably benign	Het
Trp63	A	T	16: 25,865,262	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,262,361	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,104,653	H645R	possibly damaging	Het
Wdfy4	A	G	14: 33,109,548	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,327,324	T33A	probably benign	Het
Zfp318	T	A	17: 46,399,634	V761D	probably damaging	Het
Zfp358	T	C	8: 3,496,146		probably null	Het
Zfp661	G	A	2: 127,577,548	P224L	probably damaging	Het
Zfp937	T	C	2: 150,236,786	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,242,066	H364R	probably 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
R1632:Myh7b	UTSW	2	155620525	missense	probably benign	0.04
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
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
R7703:Myh7b	UTSW	2	155620436	missense	probably null	1.00
R7711:Myh7b	UTSW	2	155620403	missense	probably damaging	1.00
X0013:Myh7b	UTSW	2	155631169	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGAGCGAGGCCAAAATC -3'
(R):5'- GTCCTTTGGATGGCATCTGC -3'

Sequencing Primer
(F):5'- TCAAAGTGGAGGAGCTGCAGC -3'
(R):5'- TGGATGGCATCTGCTTCATAC -3'

Posted On

2015-10-21