Mutagenetix > Incidental Mutation

Incidental Mutation 'R0930:Myh8'

80784

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

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.894) question?

Stock #

R0930 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67305998 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1819 (E1819G)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019625
AA Change: E1819G

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: E1819G

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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.5%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	T	7: 28,140,130	Y456F	probably damaging	Het
Abcg8	G	T	17: 84,683,277	V16L	probably benign	Het
Adamts18	A	T	8: 113,705,396		probably null	Het
Agpat4	A	T	17: 12,198,836	E88V	probably damaging	Het
Ahcyl2	A	C	6: 29,870,628		probably null	Het
Ankrd2	T	A	19: 42,043,853		probably null	Het
Anxa6	A	T	11: 54,994,388		probably null	Het
Bpi	A	G	2: 158,261,426	I114V	possibly damaging	Het
Cacna1c	A	T	6: 118,675,896	I772N	probably damaging	Het
Cacna2d1	A	G	5: 16,365,862	N1045D	possibly damaging	Het
Caprin2	T	C	6: 148,883,511		probably null	Het
Cars	T	A	7: 143,570,570	H373L	probably damaging	Het
Ccdc191	G	T	16: 43,931,255	G316V	probably damaging	Het
Cd244	T	A	1: 171,577,233		probably null	Het
Ces1a	C	T	8: 93,022,416	D456N	probably benign	Het
Cul3	A	T	1: 80,290,118	M102K	probably damaging	Het
Dact1	A	G	12: 71,318,460	R672G	probably damaging	Het
Dapk1	T	C	13: 60,757,448	F991L	probably benign	Het
Dlg5	G	A	14: 24,135,577	P1920L	probably damaging	Het
Eme2	G	A	17: 24,892,918	S263F	probably damaging	Het
Exosc4	A	G	15: 76,327,534	I14M	probably benign	Het
Ezr	G	A	17: 6,753,999	R180*	probably null	Het
Fyb	A	T	15: 6,638,828	I501F	probably damaging	Het
Hdac5	G	T	11: 102,204,646	P383Q	probably benign	Het
Hmx3	A	T	7: 131,543,084	H41L	probably benign	Het
Krt36	A	G	11: 100,103,399	F284S	probably damaging	Het
L1td1	A	G	4: 98,737,625	N686D	probably damaging	Het
Lsamp	G	A	16: 41,888,964	G86S	probably benign	Het
Myo7a	A	T	7: 98,098,256	I129N	probably damaging	Het
Nckap1	A	T	2: 80,554,249	C114S	probably benign	Het
Nphp4	T	G	4: 152,538,055	L599R	probably benign	Het
Nrcam	A	G	12: 44,549,884	I301V	probably benign	Het
Olfr1415	A	G	1: 92,491,405	S117P	possibly damaging	Het
Os9	C	T	10: 127,097,055	R547Q	probably damaging	Het
Oxtr	A	T	6: 112,489,637		probably null	Het
Pgm1	A	T	5: 64,112,147	I526F	possibly damaging	Het
Plekho2	T	C	9: 65,556,823	D248G	possibly damaging	Het
Rab43	A	T	6: 87,792,770	Y151*	probably null	Het
Rbm19	A	G	5: 120,126,204	E343G	probably benign	Het
Rel	A	T	11: 23,742,439	D531E	probably benign	Het
Rfx4	T	A	10: 84,868,427	V262E	probably damaging	Het
Ryr3	A	G	2: 112,841,833	L1431P	probably damaging	Het
Sdk2	A	G	11: 113,838,445	I1102T	probably benign	Het
Sema3d	A	C	5: 12,463,216	D51A	possibly damaging	Het
Sh2d4a	T	A	8: 68,335,123	F294I	probably damaging	Het
Slc3a1	A	G	17: 85,059,743	T453A	probably benign	Het
Sod1	A	G	16: 90,225,183	D93G	probably benign	Het
Sptan1	A	G	2: 30,016,028	N1662S	probably damaging	Het
Stxbp4	A	C	11: 90,621,700	M1R	probably null	Het
Tbc1d7	A	T	13: 43,165,336	Y108*	probably null	Het
Ticam1	A	T	17: 56,270,226	V623D	unknown	Het
Ticam1	A	G	17: 56,271,687	L136P	probably damaging	Het
Tjap1	A	C	17: 46,258,529	W512G	possibly damaging	Het
Unc80	A	T	1: 66,510,641	Q686L	possibly damaging	Het
Wdr45b	A	T	11: 121,330,214	F213I	probably damaging	Het
Xdh	A	C	17: 73,923,082	W285G	probably benign	Het
Zfp646	C	T	7: 127,883,810	Q1500*	probably null	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
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
R5523:Myh8	UTSW	11	67305962	missense	possibly damaging	0.95
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'- GCCATTACTGATGTGAGCACCACAC -3'
(R):5'- TTTAACAGCCTCAGCATTGCGTTTC -3'

Sequencing Primer
(F):5'- CACCACCAGGGCTTATTTTTG -3'
(R):5'- TCAGCATTGCGTTTCTGTTC -3'

Posted On

2013-11-07