Mutagenetix > Incidental Mutation

Incidental Mutation 'R5770:Myh8'

446509

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

043370-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.818) question?

Stock #

R5770 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

67277124-67308634 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 67297200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 933 (E933K)

Ref Sequence

ENSEMBL: ENSMUSP00000019625 (fasta)

Gene Model

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

AlphaFold

P13542

Predicted Effect

probably damaging
Transcript: ENSMUST00000019625
AA Change: E933K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000019625
Gene: ENSMUSG00000055775
AA Change: E933K

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

Meta Mutation Damage Score

0.2115

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

93% (64/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030C10Rik	T	C	12: 20,815,459 (GRCm38)		noncoding transcript	Het
Abhd8	A	G	8: 71,457,328 (GRCm38)	V392A	probably benign	Het
Alpk3	A	G	7: 81,078,562 (GRCm38)	E480G	probably benign	Het
Ankfy1	C	G	11: 72,760,256 (GRCm38)	H1011D	probably damaging	Het
Aoc3	T	G	11: 101,331,752 (GRCm38)	Y271*	probably null	Het
Bcl9	T	C	3: 97,215,175 (GRCm38)	I103V	probably benign	Het
Cgnl1	C	T	9: 71,645,487 (GRCm38)		probably null	Het
Cyp2c23	T	A	19: 44,021,579 (GRCm38)	D109V	probably damaging	Het
Cyp2j13	A	T	4: 96,077,432 (GRCm38)	W13R	probably benign	Het
D630003M21Rik	T	C	2: 158,195,580 (GRCm38)		probably benign	Het
Desi2	A	T	1: 178,256,495 (GRCm38)		probably benign	Het
Dll3	T	C	7: 28,299,009 (GRCm38)	E177G	possibly damaging	Het
Ern2	C	T	7: 122,179,907 (GRCm38)	G238D	possibly damaging	Het
Gm11595	G	A	11: 99,772,555 (GRCm38)	R100C	unknown	Het
Gm6133	A	G	18: 78,350,249 (GRCm38)	K153E	probably benign	Het
Gpr68	A	T	12: 100,878,821 (GRCm38)	Y155N	probably benign	Het
Hcrtr2	T	A	9: 76,259,666 (GRCm38)	I130F	probably damaging	Het
Hk1	T	C	10: 62,286,449 (GRCm38)	K489R	probably benign	Het
Ints13	T	C	6: 146,555,073 (GRCm38)	N425S	probably damaging	Het
Itpkc	T	C	7: 27,212,988 (GRCm38)	D578G	probably damaging	Het
Kcns3	A	G	12: 11,092,249 (GRCm38)	S150P	probably benign	Het
Khdrbs3	T	A	15: 69,049,463 (GRCm38)		probably null	Het
Kif11	A	G	19: 37,390,865 (GRCm38)	I335V	probably benign	Het
Lrrn4	C	G	2: 132,872,156 (GRCm38)	C290S	probably damaging	Het
Macrod2	T	C	2: 141,232,182 (GRCm38)		probably benign	Het
Mgam	A	G	6: 40,669,804 (GRCm38)	N688S	probably benign	Het
Nat8f5	T	C	6: 85,817,675 (GRCm38)	Y101C	probably damaging	Het
Nhlrc1	A	G	13: 47,014,712 (GRCm38)	V23A	probably benign	Het
Nkx2-3	T	A	19: 43,614,533 (GRCm38)	F193I	probably damaging	Het
Nlrp4b	T	A	7: 10,715,487 (GRCm38)	V172E	probably benign	Het
Nmrk1	G	T	19: 18,645,074 (GRCm38)	R172S	probably benign	Het
Nudcd3	T	C	11: 6,113,286 (GRCm38)	D201G	probably damaging	Het
Oprm1	G	A	10: 6,789,026 (GRCm38)	G51D	probably damaging	Het
Or10g9b	C	T	9: 40,006,338 (GRCm38)	V204I	probably benign	Het
Or13a18	A	G	7: 140,610,943 (GRCm38)	Y259C	probably damaging	Het
Or2t44	G	A	11: 58,786,594 (GRCm38)	R120H	probably benign	Het
Or2y14	A	G	11: 49,514,592 (GRCm38)	E318G	unknown	Het
Or4c12b	T	A	2: 89,816,549 (GRCm38)	D68E	probably damaging	Het
Or56a3	A	T	7: 105,090,895 (GRCm38)	I248N	probably damaging	Het
Or5ac23	A	T	16: 59,329,151 (GRCm38)	Y119*	probably null	Het
Pcdh15	T	A	10: 74,185,345 (GRCm38)	Y130*	probably null	Het
Pcdh9	G	A	14: 93,886,943 (GRCm38)	T597I	probably damaging	Het
Pcdhb19	A	G	18: 37,498,037 (GRCm38)	N295S	possibly damaging	Het
Pcnx3	T	C	19: 5,681,579 (GRCm38)		probably benign	Het
Pdzph1	A	T	17: 58,879,151 (GRCm38)	I1215N	probably damaging	Het
Phf21a	C	T	2: 92,351,854 (GRCm38)	T405I	possibly damaging	Het
Pkd1l2	C	A	8: 117,055,018 (GRCm38)	G763W	probably damaging	Het
Prox2	A	G	12: 85,087,380 (GRCm38)	F591L	probably benign	Het
Robo3	T	A	9: 37,419,201 (GRCm38)	H1033L	possibly damaging	Het
Sdha	A	T	13: 74,323,120 (GRCm38)	C222*	probably null	Het
Sec16a	T	C	2: 26,414,390 (GRCm38)	D2303G	probably damaging	Het
Shoc1	T	C	4: 59,092,466 (GRCm38)	I238M	probably benign	Het
Slc16a5	A	G	11: 115,472,778 (GRCm38)	K422E	possibly damaging	Het
Slc22a30	A	T	19: 8,386,527 (GRCm38)	M232K	probably damaging	Het
Slc35b3	A	T	13: 38,937,758 (GRCm38)	F300I	probably damaging	Het
Spata2l	A	G	8: 123,235,720 (GRCm38)	V34A	probably damaging	Het
Susd2	C	T	10: 75,638,019 (GRCm38)	A581T	probably damaging	Het
Tecta	T	A	9: 42,345,589 (GRCm38)	Q1597L	possibly damaging	Het
Tgfb1i1	A	T	7: 128,248,547 (GRCm38)		probably benign	Het
Ticam1	TCACACA	TCACA	17: 56,270,629 (GRCm38)		probably null	Het
Tpm3-rs7	A	G	14: 113,315,375 (GRCm38)	T234A	probably benign	Het
Usp20	A	G	2: 31,017,508 (GRCm38)	Y684C	probably damaging	Het
Zc3h4	T	A	7: 16,429,611 (GRCm38)	M585K	unknown	Het
Zfp292	A	G	4: 34,806,747 (GRCm38)	I2099T	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
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
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

Predicted Primers

PCR Primer
(F):5'- ATGAACACTAGATACTTTGCCCC -3'
(R):5'- CGTGCTTTGCATTAAACGTTAGG -3'

Sequencing Primer
(F):5'- GCAGACTGTCTATGTGTCTT -3'
(R):5'- AACGTTAGGTCTTAATAGCTTTGG -3'

Posted On

2016-11-21