Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02799:Myh8'

360124

Institutional Source

Australian Phenomics Network (link to record)

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: 0.881) question?

Stock #

IGL02799 (G1)

Quality Score

Status

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 67301592 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

probably benign
Transcript: ENSMUST00000019625

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775

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: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

99% (67/68)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Add2	A	G	6: 86,106,252	N444S	possibly damaging	Het
Atp2b2	A	T	6: 113,762,852	Y823*	probably null	Het
Atp2c1	A	C	9: 105,413,043		probably benign	Het
Capns1	A	T	7: 30,192,219	D133E	probably benign	Het
Cast	A	G	13: 74,736,752	V361A	probably damaging	Het
Cd69	G	A	6: 129,268,260		probably benign	Het
Celsr2	T	A	3: 108,414,062	D478V	probably damaging	Het
Cenpf	T	C	1: 189,659,652	E661G	probably damaging	Het
Chrna1	A	G	2: 73,574,641		probably benign	Het
Clec5a	C	A	6: 40,578,049	V138F	probably damaging	Het
Ctsj	T	A	13: 61,003,820	I95F	probably benign	Het
Dcaf1	T	A	9: 106,857,940	S696T	probably benign	Het
Dcp1a	T	C	14: 30,519,679		probably null	Het
Dnajc14	C	T	10: 128,806,856	P216S	possibly damaging	Het
Dst	T	C	1: 34,179,849	I1790T	possibly damaging	Het
Ehmt1	A	T	2: 24,815,806	H789Q	probably damaging	Het
Exoc7	A	T	11: 116,301,181	L188Q	probably damaging	Het
Faap100	A	G	11: 120,370,735	L823P	probably damaging	Het
Fdxacb1	T	A	9: 50,772,596	S620T	probably benign	Het
Fhl2	C	T	1: 43,128,402	R177Q	probably benign	Het
Gars	C	A	6: 55,063,099	T337K	probably damaging	Het
Ggta1	A	T	2: 35,422,199	F56I	probably damaging	Het
Gm10715	A	C	9: 3,038,062		probably benign	Het
Gpr108	T	A	17: 57,237,482	I343F	probably damaging	Het
Gpr12	T	A	5: 146,583,819	I98F	possibly damaging	Het
Hk2	A	G	6: 82,760,238	L3P	probably damaging	Het
Imp4	C	A	1: 34,440,177		probably benign	Het
Insrr	G	A	3: 87,813,581	V1049M	probably damaging	Het
Klhl24	T	C	16: 20,114,581	V314A	probably damaging	Het
Krt32	A	T	11: 100,087,907	V107D	possibly damaging	Het
Krtap5-1	G	A	7: 142,296,505	Q189*	probably null	Het
Lrrc9	A	G	12: 72,506,404	E1360G	probably damaging	Het
Mdc1	G	T	17: 35,846,191	L163F	possibly damaging	Het
Mroh1	T	G	15: 76,392,461		probably null	Het
Ndufab1	A	T	7: 122,093,726		probably benign	Het
Nek3	A	G	8: 22,158,719		probably benign	Het
Ngly1	A	T	14: 16,260,636	I107L	probably benign	Het
Nkain4	A	T	2: 180,935,935		probably null	Het
Nsd2	T	A	5: 33,864,788		probably benign	Het
Olfr1094	A	T	2: 86,828,956	H68L	probably damaging	Het
Olfr513	A	T	7: 108,755,623	M256L	probably benign	Het
Olfr732	A	G	14: 50,281,344	I303T	probably benign	Het
Olfr857	T	A	9: 19,713,018	Y64N	probably damaging	Het
Olfr874	T	A	9: 37,746,509	I125N	probably damaging	Het
Pcnt	G	A	10: 76,412,583	Q901*	probably null	Het
Pctp	C	A	11: 89,991,087	W81C	probably damaging	Het
Pik3r5	A	T	11: 68,495,947	I801F	probably damaging	Het
Ptprj	A	T	2: 90,469,598	N193K	probably benign	Het
Rab11fip1	A	T	8: 27,152,760	D670E	probably benign	Het
Racgap1	T	C	15: 99,632,747	K201E	probably benign	Het
Ranbp2	T	C	10: 58,480,264	F2269L	probably damaging	Het
Rint1	C	A	5: 23,819,480	A760D	possibly damaging	Het
Ryr2	G	A	13: 11,665,962	P3166S	probably damaging	Het
Snap29	A	G	16: 17,422,503	N158D	probably benign	Het
Speer4c	A	C	5: 15,714,216		probably benign	Het
St6galnac1	G	T	11: 116,766,647		probably benign	Het
Strc	G	A	2: 121,379,236	T202I	probably damaging	Het
Stxbp4	A	G	11: 90,494,600		probably null	Het
Syne1	A	T	10: 5,359,059	M650K	probably damaging	Het
Tbc1d2b	C	T	9: 90,223,434		probably benign	Het
Tcfl5	A	T	2: 180,638,626	I328N	possibly damaging	Het
Tenm2	A	G	11: 36,273,408	Y337H	probably damaging	Het
Tgfbr2	T	C	9: 116,110,136	K233E	possibly damaging	Het
Tnk2	T	C	16: 32,665,881		probably benign	Het
Trbv13-2	A	G	6: 41,121,537		probably benign	Het
Usp6nl	T	A	2: 6,427,549		probably benign	Het
Vmn2r62	A	G	7: 42,787,972	S363P	possibly damaging	Het
Vnn3	T	C	10: 23,851,971	I93T	possibly damaging	Het
Ylpm1	A	G	12: 85,044,484	D1108G	probably damaging	Het
Zbtb17	G	A	4: 141,463,380	G170S	probably benign	Het
Zcchc11	T	C	4: 108,513,528	Y875H	probably benign	Het
Zfyve26	T	C	12: 79,273,310	E1087G	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
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
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
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

Posted On

2015-12-18