Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Myh8'

419722

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

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67303913 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 1650 (Q1650R)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019625
AA Change: Q1650R

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: Q1650R

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

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550L24Rik	G	A	X: 58,918,937 (GRCm38)	V19I	probably benign	Het
4932414N04Rik	T	A	2: 68,731,083 (GRCm38)	D251E	probably benign	Het
4932415D10Rik	T	C	10: 82,283,567 (GRCm38)		probably benign	Het
5730460C07Rik	C	T	3: 153,789,958 (GRCm38)		noncoding transcript	Het
Coch	G	A	12: 51,603,206 (GRCm38)	R326Q	probably benign	Het
Cpa3	A	G	3: 20,215,962 (GRCm38)	V366A	probably benign	Het
Csf1r	C	T	18: 61,117,108 (GRCm38)	Q382*	probably null	Het
Csta1	C	A	16: 36,131,041 (GRCm38)	G4*	probably null	Het
Cts7	T	C	13: 61,356,603 (GRCm38)	R49G	probably damaging	Het
Dlg5	A	G	14: 24,170,454 (GRCm38)	V575A	probably benign	Het
Ero1l	G	T	14: 45,294,533 (GRCm38)	N227K	probably benign	Het
Faap24	G	T	7: 35,395,309 (GRCm38)	C58*	probably null	Het
Gm13089	G	A	4: 143,697,088 (GRCm38)	T377I	possibly damaging	Het
Hfm1	G	A	5: 106,911,575 (GRCm38)	Q194*	probably null	Het
Hs3st5	T	A	10: 36,833,323 (GRCm38)	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,429 (GRCm38)	G375R	probably damaging	Het
Itgb5	T	C	16: 33,910,552 (GRCm38)	S93P	probably benign	Het
Kcnj6	A	T	16: 94,832,583 (GRCm38)	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,247,104 (GRCm38)	Q92*	probably null	Het
Klhl38	A	G	15: 58,323,330 (GRCm38)	M1T	probably null	Het
Krtap7-1	T	C	16: 89,507,996 (GRCm38)		probably benign	Het
L1cam	T	C	X: 73,863,028 (GRCm38)	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,016 (GRCm38)	N45S	probably benign	Het
Mmp2	A	G	8: 92,839,342 (GRCm38)	I424V	probably benign	Het
Naalad2	T	A	9: 18,364,187 (GRCm38)	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134 (GRCm38)	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652 (GRCm38)	M368I	probably benign	Het
Nupl1	T	C	14: 60,228,775 (GRCm38)	T445A	probably benign	Het
Olfr294	A	G	7: 86,615,677 (GRCm38)	Y323H	possibly damaging	Het
Olfr582	A	G	7: 103,042,130 (GRCm38)	D212G	probably damaging	Het
Pkp3	A	G	7: 141,082,693 (GRCm38)	T73A	probably benign	Het
Pole	A	G	5: 110,301,998 (GRCm38)		probably benign	Het
Ppp2r3a	C	T	9: 101,211,192 (GRCm38)	G644D	probably benign	Het
Ptprb	T	C	10: 116,339,582 (GRCm38)	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,437,943 (GRCm38)	K264N	probably damaging	Het
Rasal2	T	C	1: 157,192,741 (GRCm38)		probably benign	Het
Serpina6	A	T	12: 103,646,913 (GRCm38)	I376N	probably damaging	Het
Setx	T	G	2: 29,161,799 (GRCm38)	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,543,168 (GRCm38)	D99G	probably benign	Het
Taok1	A	G	11: 77,560,328 (GRCm38)	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,188,761 (GRCm38)	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,622,845 (GRCm38)	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,314,837 (GRCm38)	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,307,750 (GRCm38)	S152C	probably damaging	Het
Washc5	C	A	15: 59,363,350 (GRCm38)		probably benign	Het
Zfp369	T	G	13: 65,296,153 (GRCm38)	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,513,347 (GRCm38)	Y234C	probably damaging	Het

Other mutations in Myh8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Myh8	APN	11	67,283,818 (GRCm38)	missense	probably damaging	0.97
IGL01020:Myh8	APN	11	67,283,403 (GRCm38)	missense	probably damaging	0.99
IGL01348:Myh8	APN	11	67,297,780 (GRCm38)	missense	probably damaging	1.00
IGL01382:Myh8	APN	11	67,301,973 (GRCm38)	missense	probably damaging	1.00
IGL01454:Myh8	APN	11	67,283,596 (GRCm38)	missense	probably damaging	1.00
IGL01457:Myh8	APN	11	67,292,679 (GRCm38)	missense	probably benign	0.00
IGL01472:Myh8	APN	11	67,288,379 (GRCm38)	splice site	probably benign
IGL01473:Myh8	APN	11	67,301,825 (GRCm38)	critical splice donor site	probably null
IGL01613:Myh8	APN	11	67,301,710 (GRCm38)	missense	probably benign	0.11
IGL01763:Myh8	APN	11	67,286,419 (GRCm38)	missense	probably benign	0.01
IGL01828:Myh8	APN	11	67,303,826 (GRCm38)	missense	possibly damaging	0.82
IGL01862:Myh8	APN	11	67,289,694 (GRCm38)	nonsense	probably null
IGL01905:Myh8	APN	11	67,284,651 (GRCm38)	missense	possibly damaging	0.90
IGL02280:Myh8	APN	11	67,283,372 (GRCm38)	unclassified	probably benign
IGL02386:Myh8	APN	11	67,294,440 (GRCm38)	missense	probably damaging	0.99
IGL02449:Myh8	APN	11	67,294,614 (GRCm38)	critical splice donor site	probably null
IGL02500:Myh8	APN	11	67,305,710 (GRCm38)	missense	probably benign	0.00
IGL02745:Myh8	APN	11	67,297,501 (GRCm38)	missense	possibly damaging	0.88
IGL02799:Myh8	APN	11	67,301,592 (GRCm38)	splice site	probably benign
IGL03063:Myh8	APN	11	67,288,205 (GRCm38)	missense	probably benign	0.00
IGL03223:Myh8	APN	11	67,283,818 (GRCm38)	missense	probably damaging	0.97
IGL03336:Myh8	APN	11	67,284,702 (GRCm38)	missense	probably damaging	1.00
IGL03338:Myh8	APN	11	67,298,346 (GRCm38)	missense	probably damaging	1.00
IGL03392:Myh8	APN	11	67,294,418 (GRCm38)	missense	probably damaging	1.00
BB003:Myh8	UTSW	11	67,278,906 (GRCm38)	missense	possibly damaging	0.94
BB009:Myh8	UTSW	11	67,294,604 (GRCm38)	missense	probably benign	0.00
BB013:Myh8	UTSW	11	67,278,906 (GRCm38)	missense	possibly damaging	0.94
BB019:Myh8	UTSW	11	67,294,604 (GRCm38)	missense	probably benign	0.00
PIT4354001:Myh8	UTSW	11	67,289,630 (GRCm38)	missense	probably benign	0.01
R0012:Myh8	UTSW	11	67,300,021 (GRCm38)	missense	probably benign	0.02
R0016:Myh8	UTSW	11	67,298,525 (GRCm38)	missense	probably damaging	1.00
R0016:Myh8	UTSW	11	67,298,525 (GRCm38)	missense	probably damaging	1.00
R0115:Myh8	UTSW	11	67,306,264 (GRCm38)	splice site	probably benign
R0131:Myh8	UTSW	11	67,292,188 (GRCm38)	missense	probably damaging	0.96
R0131:Myh8	UTSW	11	67,292,188 (GRCm38)	missense	probably damaging	0.96
R0132:Myh8	UTSW	11	67,292,188 (GRCm38)	missense	probably damaging	0.96
R0238:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0238:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0239:Myh8	UTSW	11	67,301,692 (GRCm38)	missense	probably benign	0.00
R0393:Myh8	UTSW	11	67,306,017 (GRCm38)	splice site	probably benign
R0453:Myh8	UTSW	11	67,292,905 (GRCm38)	missense	probably benign	0.03
R0454:Myh8	UTSW	11	67,303,765 (GRCm38)	nonsense	probably null
R0466:Myh8	UTSW	11	67,298,579 (GRCm38)	missense	probably benign	0.01
R0487:Myh8	UTSW	11	67,302,011 (GRCm38)	missense	probably benign
R0511:Myh8	UTSW	11	67,284,507 (GRCm38)	missense	probably benign	0.01
R0557:Myh8	UTSW	11	67,301,798 (GRCm38)	missense	possibly damaging	0.88
R0589:Myh8	UTSW	11	67,298,627 (GRCm38)	missense	probably benign	0.00
R0658:Myh8	UTSW	11	67,284,532 (GRCm38)	critical splice donor site	probably null
R0782:Myh8	UTSW	11	67,289,754 (GRCm38)	missense	probably benign	0.16
R0829:Myh8	UTSW	11	67,283,500 (GRCm38)	unclassified	probably benign
R0845:Myh8	UTSW	11	67,286,264 (GRCm38)	missense	probably damaging	1.00
R0930:Myh8	UTSW	11	67,305,998 (GRCm38)	missense	possibly damaging	0.93
R0972:Myh8	UTSW	11	67,297,759 (GRCm38)	missense	probably damaging	1.00
R1132:Myh8	UTSW	11	67,297,131 (GRCm38)	nonsense	probably null
R1417:Myh8	UTSW	11	67,306,185 (GRCm38)	missense	probably damaging	1.00
R1478:Myh8	UTSW	11	67,292,725 (GRCm38)	missense	probably benign	0.23
R1497:Myh8	UTSW	11	67,289,812 (GRCm38)	missense	probably benign	0.00
R1605:Myh8	UTSW	11	67,301,671 (GRCm38)	missense	probably damaging	0.99
R1701:Myh8	UTSW	11	67,280,138 (GRCm38)	missense	probably damaging	1.00
R1950:Myh8	UTSW	11	67,279,004 (GRCm38)	missense	possibly damaging	0.75
R1989:Myh8	UTSW	11	67,292,724 (GRCm38)	missense	probably benign	0.00
R2010:Myh8	UTSW	11	67,297,164 (GRCm38)	nonsense	probably null
R2095:Myh8	UTSW	11	67,286,224 (GRCm38)	missense	probably benign	0.00
R2132:Myh8	UTSW	11	67,292,876 (GRCm38)	missense	probably damaging	1.00
R2152:Myh8	UTSW	11	67,294,469 (GRCm38)	missense	probably damaging	0.97
R2229:Myh8	UTSW	11	67,308,348 (GRCm38)	missense	probably damaging	0.98
R2302:Myh8	UTSW	11	67,286,239 (GRCm38)	missense	probably damaging	1.00
R2364:Myh8	UTSW	11	67,294,518 (GRCm38)	missense	probably benign	0.03
R2429:Myh8	UTSW	11	67,303,897 (GRCm38)	missense	probably benign	0.21
R2880:Myh8	UTSW	11	67,297,264 (GRCm38)	missense	probably damaging	0.97
R3692:Myh8	UTSW	11	67,301,918 (GRCm38)	missense	probably damaging	0.98
R3756:Myh8	UTSW	11	67,284,617 (GRCm38)	unclassified	probably benign
R3924:Myh8	UTSW	11	67,297,137 (GRCm38)	missense	probably damaging	0.99
R4172:Myh8	UTSW	11	67,292,421 (GRCm38)	missense	probably damaging	1.00
R4255:Myh8	UTSW	11	67,299,734 (GRCm38)	missense	probably benign
R4621:Myh8	UTSW	11	67,286,258 (GRCm38)	missense	probably damaging	1.00
R4623:Myh8	UTSW	11	67,286,258 (GRCm38)	missense	probably damaging	1.00
R4790:Myh8	UTSW	11	67,279,963 (GRCm38)	missense	probably damaging	0.99
R4914:Myh8	UTSW	11	67,292,684 (GRCm38)	missense	probably damaging	1.00
R5074:Myh8	UTSW	11	67,305,916 (GRCm38)	missense	possibly damaging	0.79
R5119:Myh8	UTSW	11	67,298,358 (GRCm38)	missense	probably damaging	1.00
R5159:Myh8	UTSW	11	67,288,353 (GRCm38)	missense	probably damaging	0.99
R5229:Myh8	UTSW	11	67,284,484 (GRCm38)	missense	probably damaging	0.96
R5320:Myh8	UTSW	11	67,286,263 (GRCm38)	missense	probably damaging	1.00
R5455:Myh8	UTSW	11	67,301,418 (GRCm38)	missense	possibly damaging	0.59
R5523:Myh8	UTSW	11	67,305,962 (GRCm38)	missense	possibly damaging	0.95
R5540:Myh8	UTSW	11	67,286,440 (GRCm38)	missense	probably benign	0.00
R5726:Myh8	UTSW	11	67,294,566 (GRCm38)	missense	possibly damaging	0.79
R5770:Myh8	UTSW	11	67,297,200 (GRCm38)	missense	probably damaging	1.00
R6135:Myh8	UTSW	11	67,297,500 (GRCm38)	missense	possibly damaging	0.51
R6253:Myh8	UTSW	11	67,301,967 (GRCm38)	missense	probably benign	0.06
R6318:Myh8	UTSW	11	67,299,341 (GRCm38)	missense	probably benign	0.00
R6432:Myh8	UTSW	11	67,298,579 (GRCm38)	missense	probably benign	0.01
R6452:Myh8	UTSW	11	67,305,739 (GRCm38)	missense	possibly damaging	0.88
R6452:Myh8	UTSW	11	67,292,449 (GRCm38)	missense	probably benign	0.27
R6512:Myh8	UTSW	11	67,289,662 (GRCm38)	nonsense	probably null
R6714:Myh8	UTSW	11	67,306,949 (GRCm38)	missense	probably damaging	1.00
R6842:Myh8	UTSW	11	67,284,655 (GRCm38)	missense	probably damaging	1.00
R7007:Myh8	UTSW	11	67,288,316 (GRCm38)	missense	probably benign	0.03
R7025:Myh8	UTSW	11	67,297,539 (GRCm38)	missense	probably benign	0.02
R7086:Myh8	UTSW	11	67,292,627 (GRCm38)	splice site	probably null
R7098:Myh8	UTSW	11	67,279,053 (GRCm38)	missense	probably benign	0.03
R7498:Myh8	UTSW	11	67,283,437 (GRCm38)	missense	possibly damaging	0.80
R7716:Myh8	UTSW	11	67,298,652 (GRCm38)	missense	possibly damaging	0.51
R7765:Myh8	UTSW	11	67,303,655 (GRCm38)	missense	probably benign	0.44
R7825:Myh8	UTSW	11	67,303,712 (GRCm38)	missense	possibly damaging	0.94
R7921:Myh8	UTSW	11	67,283,818 (GRCm38)	missense	probably damaging	0.97
R7926:Myh8	UTSW	11	67,278,906 (GRCm38)	missense	possibly damaging	0.94
R7932:Myh8	UTSW	11	67,294,604 (GRCm38)	missense	probably benign	0.00
R8003:Myh8	UTSW	11	67,299,760 (GRCm38)	missense	probably damaging	1.00
R8028:Myh8	UTSW	11	67,303,676 (GRCm38)	missense	possibly damaging	0.65
R8121:Myh8	UTSW	11	67,289,821 (GRCm38)	missense	probably benign	0.00
R8125:Myh8	UTSW	11	67,299,772 (GRCm38)	missense	possibly damaging	0.94
R8170:Myh8	UTSW	11	67,288,266 (GRCm38)	missense	probably benign	0.30
R8277:Myh8	UTSW	11	67,292,909 (GRCm38)	missense	probably benign	0.10
R8304:Myh8	UTSW	11	67,304,336 (GRCm38)	missense	possibly damaging	0.72
R8431:Myh8	UTSW	11	67,283,614 (GRCm38)	missense	possibly damaging	0.94
R8535:Myh8	UTSW	11	67,278,915 (GRCm38)	missense	probably damaging	1.00
R8795:Myh8	UTSW	11	67,283,377 (GRCm38)	critical splice acceptor site	probably benign
R8858:Myh8	UTSW	11	67,301,994 (GRCm38)	missense	possibly damaging	0.67
R8927:Myh8	UTSW	11	67,283,255 (GRCm38)	missense	probably benign	0.10
R8928:Myh8	UTSW	11	67,283,255 (GRCm38)	missense	probably benign	0.10
R9031:Myh8	UTSW	11	67,299,315 (GRCm38)	missense	possibly damaging	0.49
R9172:Myh8	UTSW	11	67,292,434 (GRCm38)	missense	possibly damaging	0.82
R9252:Myh8	UTSW	11	67,286,476 (GRCm38)	missense	probably damaging	1.00
R9365:Myh8	UTSW	11	67,283,806 (GRCm38)	missense	probably benign	0.42
R9468:Myh8	UTSW	11	67,306,904 (GRCm38)	missense	probably damaging	1.00
R9564:Myh8	UTSW	11	67,286,389 (GRCm38)	missense	probably benign	0.40
R9565:Myh8	UTSW	11	67,286,389 (GRCm38)	missense	probably benign	0.40
T0722:Myh8	UTSW	11	67,304,436 (GRCm38)	missense	probably benign	0.41
Z1088:Myh8	UTSW	11	67,298,592 (GRCm38)	missense	probably damaging	1.00
Z1176:Myh8	UTSW	11	67,303,674 (GRCm38)	missense	probably damaging	1.00
Z1177:Myh8	UTSW	11	67,308,355 (GRCm38)	missense	possibly damaging	0.64
Z1177:Myh8	UTSW	11	67,301,424 (GRCm38)	missense	probably damaging	0.99
Z1187:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign
Z1188:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign
Z1190:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign
Z1191:Myh8	UTSW	11	67,297,486 (GRCm38)	missense	probably benign

Posted On

2016-08-02