Mutagenetix > Incidental Mutation

Incidental Mutation 'R5523:Myh8'

431696

Institutional Source

Beutler Lab

Gene Symbol

Myh8

Ensembl Gene

ENSMUSG00000055775

Gene Name

myosin, heavy polypeptide 8, skeletal muscle, perinatal

Synonyms

Myhsp, 4832426G23Rik, MyHC-pn, Myhs-p

MMRRC Submission

043265-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.864) question?

Stock #

R5523 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 67305962 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 1807 (A1807E)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019625]

AlphaFold

P13542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019625
AA Change: A1807E

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: A1807E

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	37	76	2.1e-13	PFAM
MYSc	82	782	N/A	SMART
IQ	783	805	5.44e-3	SMART
Pfam:Myosin_tail_1	846	1927	2.4e-164	PFAM

Coding Region Coverage

1x: 98.3%
3x: 97.3%
10x: 95.4%
20x: 91.4%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a myosin heavy chain. The encoded protein forms a hexamer with two heavy chains, two alkali light chains, and two regulatory light chain components. This complex functions in muscle contraction. This gene is located in a cluster of related genes on chromosome 11. [provided by RefSeq, Jun 2013]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	G	A	3: 153,938,636	T70M	probably benign	Het
Adamtsl3	G	A	7: 82,574,442	A218T	possibly damaging	Het
Ahnak2	T	C	12: 112,775,208	D810G	probably damaging	Het
Ak7	T	A	12: 105,741,082	L315*	probably null	Het
Apoa5	T	C	9: 46,270,589	F321S	possibly damaging	Het
Baiap2l1	G	C	5: 144,275,958	P416A	probably damaging	Het
Bco1	A	G	8: 117,108,693	I128V	possibly damaging	Het
Bpifb2	T	C	2: 153,875,985		probably benign	Het
Cdt1	G	A	8: 122,568,093	R13H	possibly damaging	Het
Cenpj	A	G	14: 56,552,423	V723A	probably benign	Het
Chl1	T	A	6: 103,708,714	W849R	probably damaging	Het
Cpne9	A	G	6: 113,290,231	D169G	probably damaging	Het
Cyp2d22	A	G	15: 82,372,571	V334A	probably damaging	Het
Cyp4f39	C	A	17: 32,470,833	N84K	probably benign	Het
Cyp4f40	T	A	17: 32,669,822	F192I	probably damaging	Het
Disp3	T	C	4: 148,258,097	D632G	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Echs1	G	T	7: 140,112,513	T107K	probably benign	Het
Ehmt2	C	T	17: 34,899,091	R40*	probably null	Het
Ergic1	G	A	17: 26,624,606	V17I	probably damaging	Het
Fank1	G	T	7: 133,876,840	C210F	probably damaging	Het
Fbxo15	T	G	18: 84,960,069	M136R	probably damaging	Het
Ggcx	C	A	6: 72,424,034	P240H	probably damaging	Het
Gpr179	T	C	11: 97,336,782	R1516G	probably benign	Het
Gprin3	G	A	6: 59,353,946	Q459*	probably null	Het
Hadha	C	A	5: 30,145,254	V99F	possibly damaging	Het
Hirip3	A	G	7: 126,863,862	D330G	possibly damaging	Het
Irx2	T	C	13: 72,631,595	W333R	probably damaging	Het
Kansl1l	T	C	1: 66,802,112	T10A	probably benign	Het
Kcnd2	T	C	6: 21,723,212	I467T	probably benign	Het
Klc3	A	T	7: 19,397,007	I215N	probably damaging	Het
Kmt2c	A	G	5: 25,299,339	V3657A	probably benign	Het
Lin28b	A	T	10: 45,469,068	L54*	probably null	Het
Mgll	T	C	6: 88,725,761	V14A	probably benign	Het
Mrc2	A	G	11: 105,343,582	N976S	probably benign	Het
Nalcn	G	A	14: 123,409,743	P573S	probably damaging	Het
Ncam2	C	T	16: 81,434,878	R77*	probably null	Het
Neb	T	C	2: 52,278,815	S1903G	probably benign	Het
Nfe2	T	A	15: 103,249,129	D145V	probably damaging	Het
Olfr243	T	A	7: 103,717,480	Y295*	probably null	Het
Padi1	A	T	4: 140,814,853	V586D	probably damaging	Het
Pcdh12	T	C	18: 38,283,139	D311G	probably damaging	Het
Pcdha11	A	T	18: 37,012,386	H510L	probably damaging	Het
Plcb1	C	A	2: 135,260,566	P221H	probably benign	Het
Plekhg2	A	T	7: 28,370,431	V58E	probably damaging	Het
Pparg	A	C	6: 115,490,071	Q435P	probably damaging	Het
Ppp1r36	A	G	12: 76,438,118	T282A	possibly damaging	Het
Prcd	T	C	11: 116,668,284		probably benign	Het
Pygo1	A	T	9: 72,944,984	H151L	possibly damaging	Het
Rnmt	A	G	18: 68,313,702	Y266C	probably benign	Het
Rxrb	T	C	17: 34,036,437	V246A	probably damaging	Het
Sart1	A	G	19: 5,383,676	S378P	probably damaging	Het
Sema4d	T	C	13: 51,711,354	N318S	possibly damaging	Het
Sis	C	T	3: 72,891,421	V1765I	probably benign	Het
Slc17a6	A	T	7: 51,626,850	K116*	probably null	Het
Smc6	T	A	12: 11,291,539	H519Q	probably benign	Het
Sowahc	T	A	10: 59,222,963	M307K	probably benign	Het
Sptbn1	A	G	11: 30,137,560	Y960H	probably damaging	Het
Tmem270	A	C	5: 134,902,782	V102G	probably benign	Het
Tmprss11d	A	G	5: 86,338,870	F54L	probably benign	Het
Top1	T	A	2: 160,702,775	Y270*	probably null	Het
Trpm2	A	G	10: 77,935,961	F615L	probably benign	Het
Ttf2	A	G	3: 100,959,242	S525P	probably damaging	Het
Ttn	A	T	2: 76,946,897	M1387K	possibly damaging	Het
Upk3bl	A	T	5: 136,060,100	R156W	probably damaging	Het
Usp34	G	T	11: 23,349,198	R290L	probably benign	Het
Vwf	T	C	6: 125,643,042	V1561A		Het
Zan	A	G	5: 137,421,893	I2834T	unknown	Het
Zfp105	A	G	9: 122,926,389	Y90C	probably benign	Het
Zfp804a	T	C	2: 82,258,995	V1056A	probably damaging	Het
Zfp956	A	T	6: 47,953,521		probably benign	Het

Other mutations in Myh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Myh8	APN	11	67283818	missense	probably damaging	0.97
IGL01020:Myh8	APN	11	67283403	missense	probably damaging	0.99
IGL01348:Myh8	APN	11	67297780	missense	probably damaging	1.00
IGL01382:Myh8	APN	11	67301973	missense	probably damaging	1.00
IGL01454:Myh8	APN	11	67283596	missense	probably damaging	1.00
IGL01457:Myh8	APN	11	67292679	missense	probably benign	0.00
IGL01472:Myh8	APN	11	67288379	splice site	probably benign
IGL01473:Myh8	APN	11	67301825	critical splice donor site	probably null
IGL01613:Myh8	APN	11	67301710	missense	probably benign	0.11
IGL01763:Myh8	APN	11	67286419	missense	probably benign	0.01
IGL01828:Myh8	APN	11	67303826	missense	possibly damaging	0.82
IGL01862:Myh8	APN	11	67289694	nonsense	probably null
IGL01905:Myh8	APN	11	67284651	missense	possibly damaging	0.90
IGL02280:Myh8	APN	11	67283372	unclassified	probably benign
IGL02386:Myh8	APN	11	67294440	missense	probably damaging	0.99
IGL02449:Myh8	APN	11	67294614	critical splice donor site	probably null
IGL02500:Myh8	APN	11	67305710	missense	probably benign	0.00
IGL02745:Myh8	APN	11	67297501	missense	possibly damaging	0.88
IGL02799:Myh8	APN	11	67301592	splice site	probably benign
IGL03063:Myh8	APN	11	67288205	missense	probably benign	0.00
IGL03223:Myh8	APN	11	67283818	missense	probably damaging	0.97
IGL03336:Myh8	APN	11	67284702	missense	probably damaging	1.00
IGL03338:Myh8	APN	11	67298346	missense	probably damaging	1.00
IGL03351:Myh8	APN	11	67303913	missense	possibly damaging	0.94
IGL03392:Myh8	APN	11	67294418	missense	probably damaging	1.00
BB003:Myh8	UTSW	11	67278906	missense	possibly damaging	0.94
BB009:Myh8	UTSW	11	67294604	missense	probably benign	0.00
BB013:Myh8	UTSW	11	67278906	missense	possibly damaging	0.94
BB019:Myh8	UTSW	11	67294604	missense	probably benign	0.00
PIT4354001:Myh8	UTSW	11	67289630	missense	probably benign	0.01
R0012:Myh8	UTSW	11	67300021	missense	probably benign	0.02
R0016:Myh8	UTSW	11	67298525	missense	probably damaging	1.00
R0016:Myh8	UTSW	11	67298525	missense	probably damaging	1.00
R0115:Myh8	UTSW	11	67306264	splice site	probably benign
R0131:Myh8	UTSW	11	67292188	missense	probably damaging	0.96
R0131:Myh8	UTSW	11	67292188	missense	probably damaging	0.96
R0132:Myh8	UTSW	11	67292188	missense	probably damaging	0.96
R0238:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0238:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67301692	missense	probably benign	0.00
R0393:Myh8	UTSW	11	67306017	splice site	probably benign
R0453:Myh8	UTSW	11	67292905	missense	probably benign	0.03
R0454:Myh8	UTSW	11	67303765	nonsense	probably null
R0466:Myh8	UTSW	11	67298579	missense	probably benign	0.01
R0487:Myh8	UTSW	11	67302011	missense	probably benign
R0511:Myh8	UTSW	11	67284507	missense	probably benign	0.01
R0557:Myh8	UTSW	11	67301798	missense	possibly damaging	0.88
R0589:Myh8	UTSW	11	67298627	missense	probably benign	0.00
R0658:Myh8	UTSW	11	67284532	critical splice donor site	probably null
R0782:Myh8	UTSW	11	67289754	missense	probably benign	0.16
R0829:Myh8	UTSW	11	67283500	unclassified	probably benign
R0845:Myh8	UTSW	11	67286264	missense	probably damaging	1.00
R0930:Myh8	UTSW	11	67305998	missense	possibly damaging	0.93
R0972:Myh8	UTSW	11	67297759	missense	probably damaging	1.00
R1132:Myh8	UTSW	11	67297131	nonsense	probably null
R1417:Myh8	UTSW	11	67306185	missense	probably damaging	1.00
R1478:Myh8	UTSW	11	67292725	missense	probably benign	0.23
R1497:Myh8	UTSW	11	67289812	missense	probably benign	0.00
R1605:Myh8	UTSW	11	67301671	missense	probably damaging	0.99
R1701:Myh8	UTSW	11	67280138	missense	probably damaging	1.00
R1950:Myh8	UTSW	11	67279004	missense	possibly damaging	0.75
R1989:Myh8	UTSW	11	67292724	missense	probably benign	0.00
R2010:Myh8	UTSW	11	67297164	nonsense	probably null
R2095:Myh8	UTSW	11	67286224	missense	probably benign	0.00
R2132:Myh8	UTSW	11	67292876	missense	probably damaging	1.00
R2152:Myh8	UTSW	11	67294469	missense	probably damaging	0.97
R2229:Myh8	UTSW	11	67308348	missense	probably damaging	0.98
R2302:Myh8	UTSW	11	67286239	missense	probably damaging	1.00
R2364:Myh8	UTSW	11	67294518	missense	probably benign	0.03
R2429:Myh8	UTSW	11	67303897	missense	probably benign	0.21
R2880:Myh8	UTSW	11	67297264	missense	probably damaging	0.97
R3692:Myh8	UTSW	11	67301918	missense	probably damaging	0.98
R3756:Myh8	UTSW	11	67284617	unclassified	probably benign
R3924:Myh8	UTSW	11	67297137	missense	probably damaging	0.99
R4172:Myh8	UTSW	11	67292421	missense	probably damaging	1.00
R4255:Myh8	UTSW	11	67299734	missense	probably benign
R4621:Myh8	UTSW	11	67286258	missense	probably damaging	1.00
R4623:Myh8	UTSW	11	67286258	missense	probably damaging	1.00
R4790:Myh8	UTSW	11	67279963	missense	probably damaging	0.99
R4914:Myh8	UTSW	11	67292684	missense	probably damaging	1.00
R5074:Myh8	UTSW	11	67305916	missense	possibly damaging	0.79
R5119:Myh8	UTSW	11	67298358	missense	probably damaging	1.00
R5159:Myh8	UTSW	11	67288353	missense	probably damaging	0.99
R5229:Myh8	UTSW	11	67284484	missense	probably damaging	0.96
R5320:Myh8	UTSW	11	67286263	missense	probably damaging	1.00
R5455:Myh8	UTSW	11	67301418	missense	possibly damaging	0.59
R5540:Myh8	UTSW	11	67286440	missense	probably benign	0.00
R5726:Myh8	UTSW	11	67294566	missense	possibly damaging	0.79
R5770:Myh8	UTSW	11	67297200	missense	probably damaging	1.00
R6135:Myh8	UTSW	11	67297500	missense	possibly damaging	0.51
R6253:Myh8	UTSW	11	67301967	missense	probably benign	0.06
R6318:Myh8	UTSW	11	67299341	missense	probably benign	0.00
R6432:Myh8	UTSW	11	67298579	missense	probably benign	0.01
R6452:Myh8	UTSW	11	67292449	missense	probably benign	0.27
R6452:Myh8	UTSW	11	67305739	missense	possibly damaging	0.88
R6512:Myh8	UTSW	11	67289662	nonsense	probably null
R6714:Myh8	UTSW	11	67306949	missense	probably damaging	1.00
R6842:Myh8	UTSW	11	67284655	missense	probably damaging	1.00
R7007:Myh8	UTSW	11	67288316	missense	probably benign	0.03
R7025:Myh8	UTSW	11	67297539	missense	probably benign	0.02
R7086:Myh8	UTSW	11	67292627	splice site	probably null
R7098:Myh8	UTSW	11	67279053	missense	probably benign	0.03
R7498:Myh8	UTSW	11	67283437	missense	possibly damaging	0.80
R7716:Myh8	UTSW	11	67298652	missense	possibly damaging	0.51
R7765:Myh8	UTSW	11	67303655	missense	probably benign	0.44
R7825:Myh8	UTSW	11	67303712	missense	possibly damaging	0.94
R7921:Myh8	UTSW	11	67283818	missense	probably damaging	0.97
R7926:Myh8	UTSW	11	67278906	missense	possibly damaging	0.94
R7932:Myh8	UTSW	11	67294604	missense	probably benign	0.00
R8003:Myh8	UTSW	11	67299760	missense	probably damaging	1.00
R8028:Myh8	UTSW	11	67303676	missense	possibly damaging	0.65
R8121:Myh8	UTSW	11	67289821	missense	probably benign	0.00
R8125:Myh8	UTSW	11	67299772	missense	possibly damaging	0.94
R8170:Myh8	UTSW	11	67288266	missense	probably benign	0.30
R8277:Myh8	UTSW	11	67292909	missense	probably benign	0.10
R8304:Myh8	UTSW	11	67304336	missense	possibly damaging	0.72
R8431:Myh8	UTSW	11	67283614	missense	possibly damaging	0.94
R8535:Myh8	UTSW	11	67278915	missense	probably damaging	1.00
R8795:Myh8	UTSW	11	67283377	critical splice acceptor site	probably benign
R8858:Myh8	UTSW	11	67301994	missense	possibly damaging	0.67
R8927:Myh8	UTSW	11	67283255	missense	probably benign	0.10
R8928:Myh8	UTSW	11	67283255	missense	probably benign	0.10
R9031:Myh8	UTSW	11	67299315	missense	possibly damaging	0.49
R9172:Myh8	UTSW	11	67292434	missense	possibly damaging	0.82
R9252:Myh8	UTSW	11	67286476	missense	probably damaging	1.00
R9365:Myh8	UTSW	11	67283806	missense	probably benign	0.42
R9468:Myh8	UTSW	11	67306904	missense	probably damaging	1.00
R9564:Myh8	UTSW	11	67286389	missense	probably benign	0.40
R9565:Myh8	UTSW	11	67286389	missense	probably benign	0.40
T0722:Myh8	UTSW	11	67304436	missense	probably benign	0.41
Z1088:Myh8	UTSW	11	67298592	missense	probably damaging	1.00
Z1176:Myh8	UTSW	11	67303674	missense	probably damaging	1.00
Z1177:Myh8	UTSW	11	67301424	missense	probably damaging	0.99
Z1177:Myh8	UTSW	11	67308355	missense	possibly damaging	0.64
Z1187:Myh8	UTSW	11	67297486	missense	probably benign
Z1188:Myh8	UTSW	11	67297486	missense	probably benign
Z1190:Myh8	UTSW	11	67297486	missense	probably benign
Z1191:Myh8	UTSW	11	67297486	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GCCATTACTGATGTGAGCACC -3'
(R):5'- AGATGTATCTCCAGTCAGTGTTGG -3'

Sequencing Primer
(F):5'- GTGAGCACCACACACATTAC -3'
(R):5'- CCAGTCAGTGTTGGGGGATTACC -3'

Posted On

2016-10-05