Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01457:Myh8'

84832

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 #

IGL01457

Quality Score

Status

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67292679 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 739 (I739V)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

probably benign
Transcript: ENSMUST00000019625
AA Change: I739V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: I739V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000108686

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139052

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	A	14: 32,660,951 (GRCm38)	Y1019F	probably benign	Het
4930455H04Rik	T	G	3: 116,968,551 (GRCm38)		probably benign	Het
4930548H24Rik	A	T	5: 31,487,427 (GRCm38)	I175L	probably benign	Het
4932415D10Rik	C	A	10: 82,284,734 (GRCm38)	K4147N	probably damaging	Het
9830107B12Rik	A	T	17: 48,128,583 (GRCm38)		probably benign	Het
Abcc8	A	G	7: 46,135,493 (GRCm38)	V737A	possibly damaging	Het
Adamts20	T	A	15: 94,331,448 (GRCm38)	Y930F	probably damaging	Het
Alkbh8	T	A	9: 3,369,825 (GRCm38)	F365I	probably damaging	Het
App	G	A	16: 85,103,239 (GRCm38)	H108Y	probably damaging	Het
Bfsp1	T	C	2: 143,827,644 (GRCm38)		probably benign	Het
Cabin1	T	C	10: 75,742,429 (GRCm38)	N478S	probably damaging	Het
Camsap3	G	A	8: 3,604,795 (GRCm38)	V796I	probably damaging	Het
Carns1	A	T	19: 4,166,499 (GRCm38)		probably null	Het
Clca1	C	T	3: 145,007,778 (GRCm38)	M697I	probably benign	Het
Cltc	C	T	11: 86,702,248 (GRCm38)	M1600I	probably benign	Het
Cnot1	T	A	8: 95,741,009 (GRCm38)	N1499Y	probably damaging	Het
Crebbp	T	A	16: 4,124,768 (GRCm38)	I196L	probably damaging	Het
Drc3	C	A	11: 60,358,649 (GRCm38)		probably benign	Het
Fam161a	T	A	11: 23,020,702 (GRCm38)	Y234*	probably null	Het
Il1r1	C	A	1: 40,313,170 (GRCm38)	P500Q	probably damaging	Het
Katnal1	G	T	5: 148,893,797 (GRCm38)		probably benign	Het
Klhdc2	A	G	12: 69,297,053 (GRCm38)	N20S	probably benign	Het
Kmt2e	A	T	5: 23,502,019 (GRCm38)	T1527S	possibly damaging	Het
Magi1	C	T	6: 93,747,224 (GRCm38)	G270D	probably damaging	Het
Mdn1	T	A	4: 32,715,922 (GRCm38)	S2035T	possibly damaging	Het
Mki67	A	T	7: 135,699,546 (GRCm38)	M1253K	probably benign	Het
Myh7	T	C	14: 54,988,879 (GRCm38)	M435V	possibly damaging	Het
Npnt	T	C	3: 132,885,982 (GRCm38)	K430R	probably damaging	Het
Nrd1	A	G	4: 109,047,660 (GRCm38)	N696S	probably benign	Het
Oit3	T	C	10: 59,425,484 (GRCm38)		probably benign	Het
Olfr1350	A	G	7: 6,570,212 (GRCm38)	T74A	probably benign	Het
Olfr478	A	T	7: 108,032,121 (GRCm38)	I74K	possibly damaging	Het
Olfr571	A	G	7: 102,909,719 (GRCm38)	I40T	possibly damaging	Het
Olfr642	A	G	7: 104,050,169 (GRCm38)	Y62H	probably damaging	Het
Pkd1	G	A	17: 24,594,821 (GRCm38)		probably null	Het
Plat	A	G	8: 22,776,828 (GRCm38)	M279V	probably benign	Het
Prkd1	A	T	12: 50,392,910 (GRCm38)	L378*	probably null	Het
Rasgef1a	C	T	6: 118,084,545 (GRCm38)	T157I	probably benign	Het
Rbm22	A	G	18: 60,560,857 (GRCm38)	N11S	probably damaging	Het
Ros1	T	C	10: 52,046,330 (GRCm38)		probably benign	Het
Sema6d	T	A	2: 124,653,642 (GRCm38)	F3Y	unknown	Het
Sis	T	C	3: 72,961,021 (GRCm38)	D112G	probably benign	Het
Slit1	C	A	19: 41,611,044 (GRCm38)	G1023C	probably damaging	Het
Sptb	T	C	12: 76,612,555 (GRCm38)		probably benign	Het
Sspo	T	C	6: 48,498,343 (GRCm38)	I4881T	probably benign	Het
Supt6	C	A	11: 78,221,143 (GRCm38)	D1038Y	probably damaging	Het
Tbc1d2b	A	T	9: 90,205,091 (GRCm38)	L945Q	probably damaging	Het
Tgfbr3	G	T	5: 107,149,898 (GRCm38)	A212E	probably damaging	Het
Tipin	A	G	9: 64,304,408 (GRCm38)	T259A	probably benign	Het
Traip	T	C	9: 107,970,472 (GRCm38)	S365P	probably benign	Het
Tst	T	C	15: 78,399,767 (GRCm38)	T287A	probably benign	Het
Tube1	C	T	10: 39,145,722 (GRCm38)		probably benign	Het
Uhrf1bp1l	T	C	10: 89,805,762 (GRCm38)	S932P	probably benign	Het
Vmn1r37	T	A	6: 66,731,409 (GRCm38)	N6K	probably damaging	Het
Vmn2r111	C	A	17: 22,571,985 (GRCm38)	E111*	probably null	Het
Vmn2r17	C	T	5: 109,453,032 (GRCm38)	T732I	probably benign	Het
Vmn2r69	A	T	7: 85,406,628 (GRCm38)	D767E	possibly 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
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
IGL03351:Myh8	APN	11	67,303,913 (GRCm38)	missense	possibly damaging	0.94
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

2013-11-11