Mutagenetix > Incidental Mutation

Incidental Mutation 'R8060:Myh1'

619661

Institutional Source

Beutler Lab

Gene Symbol

Myh1

Ensembl Gene

ENSMUSG00000056328

Gene Name

myosin, heavy polypeptide 1, skeletal muscle, adult

Synonyms

A530084A17Rik, Myhsf2, Myhs-f2, Myhs-f, IId/x, IId, myosin heavy chain 2X, MYHC-IIX, MyHC-IId/x

MMRRC Submission

067496-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67200052-67224575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67215251 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 1231 (M1231L)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018637] [ENSMUST00000075734] [ENSMUST00000124516]

AlphaFold

Q5SX40

Predicted Effect

probably benign
Transcript: ENSMUST00000018637
AA Change: M1231L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: M1231L

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000075734
AA Change: M1231L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: M1231L

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	7.2e-14	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
Pfam:Myosin_tail_1	850	1931	1.9e-165	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124516
AA Change: M1231L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: M1231L

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.8e-15	PFAM
MYSc	80	786	N/A	SMART
IQ	787	809	1.18e-3	SMART
low complexity region	860	883	N/A	INTRINSIC
low complexity region	931	945	N/A	INTRINSIC
Pfam:Myosin_tail_1	1075	1933	N/A	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Myosin is a major contractile protein which converts chemical energy into mechanical energy through the hydrolysis of ATP. Myosin is a hexameric protein composed of a pair of myosin heavy chains (MYH) and two pairs of nonidentical light chains. Myosin heavy chains are encoded by a multigene family. In mammals at least 10 different myosin heavy chain (MYH) isoforms have been described from striated, smooth, and nonmuscle cells. These isoforms show expression that is spatially and temporally regulated during development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit reduced growth, muscular weakness, kyphosis, and abnormal kinetics of muscle contraction and relaxation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamdc	A	T	7: 97,575,648 (GRCm38)	Y2*	probably null	Het
Ano5	T	A	7: 51,587,783 (GRCm38)	V785E	probably benign	Het
Arhgef10	A	T	8: 14,954,446 (GRCm38)	R399S	probably damaging	Het
Arhgef40	A	G	14: 51,984,995 (GRCm38)		probably benign	Het
Armc3	G	T	2: 19,288,909 (GRCm38)	V504L	probably benign	Het
Asb10	T	A	5: 24,533,835 (GRCm38)	Y408F	probably benign	Het
Catsperb	A	T	12: 101,602,766 (GRCm38)	N899I	probably damaging	Het
Ccdc112	T	C	18: 46,293,462 (GRCm38)	I131M	probably damaging	Het
Chrnb3	T	A	8: 27,394,560 (GRCm38)	S442T	unknown	Het
Cit	G	A	5: 115,908,727 (GRCm38)	V400M	probably benign	Het
Copg1	T	C	6: 87,909,721 (GRCm38)	F772L	probably damaging	Het
Cts3	T	A	13: 61,566,766 (GRCm38)	I242F	probably damaging	Het
Dock1	T	A	7: 134,990,629 (GRCm38)		probably benign	Het
Dock1	T	A	7: 135,168,403 (GRCm38)	D1797E	probably benign	Het
Dsc2	C	T	18: 20,032,274 (GRCm38)	G881R	possibly damaging	Het
Fam171a2	T	C	11: 102,438,610 (GRCm38)	K441R	possibly damaging	Het
H2-DMa	A	G	17: 34,137,285 (GRCm38)	E87G	probably benign	Het
Has2	T	A	15: 56,669,945 (GRCm38)	M225L	probably benign	Het
Hnrnpll	A	G	17: 80,034,105 (GRCm38)	S502P	probably damaging	Het
Hnrnpul1	G	T	7: 25,748,343 (GRCm38)	F185L	possibly damaging	Het
Hoxd11	G	A	2: 74,682,376 (GRCm38)		probably benign	Het
Larp1b	T	C	3: 40,985,402 (GRCm38)	V330A		Het
Mast4	T	C	13: 102,737,676 (GRCm38)	E1728G	possibly damaging	Het
Minpp1	T	A	19: 32,493,903 (GRCm38)	F284I	probably damaging	Het
Moxd1	A	G	10: 24,301,612 (GRCm38)	S609G	unknown	Het
Nup107	T	C	10: 117,763,769 (GRCm38)	E615G	probably damaging	Het
Or1e27-ps1	T	C	11: 73,664,939 (GRCm38)	I110T	probably benign	Het
Or4c10	A	T	2: 89,930,349 (GRCm38)	N180I	probably benign	Het
Or4p7	A	G	2: 88,391,504 (GRCm38)	T86A	probably benign	Het
Or5p55	A	G	7: 107,967,405 (GRCm38)	T3A	probably benign	Het
Or5w20	A	T	2: 87,896,973 (GRCm38)	Y258F	probably damaging	Het
Or6c205	A	C	10: 129,251,046 (GRCm38)	T171P	possibly damaging	Het
Pln	A	T	10: 53,343,897 (GRCm38)	I12F	unknown	Het
Pomt2	G	A	12: 87,129,006 (GRCm38)	A388V	probably damaging	Het
Rbl2	T	A	8: 91,096,869 (GRCm38)		probably null	Het
Rnpep	T	C	1: 135,266,920 (GRCm38)	Y459C	probably damaging	Het
Slc23a4	T	C	6: 34,948,401 (GRCm38)	T498A	probably damaging	Het
Slc2a4	A	T	11: 69,945,010 (GRCm38)	L338M	possibly damaging	Het
Smco2	C	A	6: 146,866,785 (GRCm38)	Q221K	probably benign	Het
Snx20	G	T	8: 88,627,645 (GRCm38)	C152*	probably null	Het
Spata16	T	C	3: 26,840,720 (GRCm38)	L306P	probably damaging	Het
Spata20	A	T	11: 94,482,239 (GRCm38)	F520L	probably benign	Het
Sptbn1	A	T	11: 30,101,616 (GRCm38)	D2290E	probably damaging	Het
Tnfrsf11b	G	A	15: 54,254,109 (GRCm38)	T250I	probably benign	Het
Trim34a	G	T	7: 104,260,976 (GRCm38)	W328C	probably damaging	Het
Trim42	T	G	9: 97,363,479 (GRCm38)	M423L	probably damaging	Het
Trpm4	T	C	7: 45,305,451 (GRCm38)	K1055E	probably damaging	Het
Trpv5	T	A	6: 41,674,531 (GRCm38)	K238*	probably null	Het
Tshr	A	C	12: 91,538,360 (GRCm38)	I691L	probably benign	Het
Vmn2r-ps117	A	T	17: 18,837,862 (GRCm38)	H560L	possibly damaging	Het

Other mutations in Myh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myh1	APN	11	67,220,865 (GRCm38)	missense	probably damaging	0.99
IGL00514:Myh1	APN	11	67,219,784 (GRCm38)	missense	probably damaging	1.00
IGL00851:Myh1	APN	11	67,217,910 (GRCm38)	missense	probably damaging	0.96
IGL01061:Myh1	APN	11	67,217,862 (GRCm38)	missense	probably benign	0.05
IGL01113:Myh1	APN	11	67,202,180 (GRCm38)	missense	probably benign	0.00
IGL01125:Myh1	APN	11	67,220,660 (GRCm38)	missense	probably benign
IGL01391:Myh1	APN	11	67,217,863 (GRCm38)	missense	probably benign	0.00
IGL01392:Myh1	APN	11	67,221,301 (GRCm38)	missense	probably benign	0.20
IGL01404:Myh1	APN	11	67,222,151 (GRCm38)	missense	possibly damaging	0.83
IGL01700:Myh1	APN	11	67,211,412 (GRCm38)	missense	probably damaging	1.00
IGL01739:Myh1	APN	11	67,214,528 (GRCm38)	missense	probably damaging	0.99
IGL01759:Myh1	APN	11	67,219,906 (GRCm38)	missense	probably damaging	1.00
IGL01922:Myh1	APN	11	67,210,466 (GRCm38)	critical splice donor site	probably null
IGL01952:Myh1	APN	11	67,220,392 (GRCm38)	splice site	probably null
IGL02007:Myh1	APN	11	67,220,556 (GRCm38)	missense	probably benign	0.03
IGL02028:Myh1	APN	11	67,210,615 (GRCm38)	missense	probably damaging	1.00
IGL02245:Myh1	APN	11	67,211,487 (GRCm38)	missense	possibly damaging	0.58
IGL02628:Myh1	APN	11	67,206,262 (GRCm38)	unclassified	probably benign
IGL02942:Myh1	APN	11	67,202,482 (GRCm38)	missense	probably damaging	1.00
IGL02967:Myh1	APN	11	67,209,070 (GRCm38)	missense	possibly damaging	0.76
IGL03031:Myh1	APN	11	67,206,387 (GRCm38)	missense	possibly damaging	0.47
IGL03187:Myh1	APN	11	67,206,525 (GRCm38)	missense	possibly damaging	0.56
IGL03302:Myh1	APN	11	67,211,502 (GRCm38)	missense	probably benign	0.01
compelling	UTSW	11	67,219,805 (GRCm38)	critical splice donor site	probably null
convincing	UTSW	11	67,202,539 (GRCm38)	missense	probably damaging	1.00
muscle	UTSW	11	67,206,048 (GRCm38)	nonsense	probably null
Persuasive	UTSW	11	67,209,064 (GRCm38)	missense	possibly damaging	0.90
G1patch:Myh1	UTSW	11	67,201,893 (GRCm38)	missense	probably damaging	1.00
R0041:Myh1	UTSW	11	67,209,078 (GRCm38)	missense	possibly damaging	0.88
R0079:Myh1	UTSW	11	67,213,411 (GRCm38)	missense	probably damaging	1.00
R0081:Myh1	UTSW	11	67,215,857 (GRCm38)	missense	probably benign
R0317:Myh1	UTSW	11	67,217,512 (GRCm38)	missense	probably damaging	1.00
R0465:Myh1	UTSW	11	67,210,417 (GRCm38)	missense	possibly damaging	0.50
R0528:Myh1	UTSW	11	67,220,619 (GRCm38)	missense	probably damaging	1.00
R0731:Myh1	UTSW	11	67,202,533 (GRCm38)	missense	probably damaging	0.98
R0964:Myh1	UTSW	11	67,205,925 (GRCm38)	missense	probably benign
R0964:Myh1	UTSW	11	67,221,604 (GRCm38)	missense	probably damaging	1.00
R1427:Myh1	UTSW	11	67,219,747 (GRCm38)	missense	probably damaging	0.99
R1429:Myh1	UTSW	11	67,217,910 (GRCm38)	missense	possibly damaging	0.78
R1481:Myh1	UTSW	11	67,205,499 (GRCm38)	unclassified	probably benign
R1562:Myh1	UTSW	11	67,211,370 (GRCm38)	missense	probably benign	0.04
R1727:Myh1	UTSW	11	67,210,466 (GRCm38)	critical splice donor site	probably benign
R1796:Myh1	UTSW	11	67,224,357 (GRCm38)	missense	probably benign	0.00
R1808:Myh1	UTSW	11	67,211,474 (GRCm38)	nonsense	probably null
R1836:Myh1	UTSW	11	67,204,822 (GRCm38)	missense	probably damaging	0.98
R1848:Myh1	UTSW	11	67,213,630 (GRCm38)	missense	probably benign	0.10
R1851:Myh1	UTSW	11	67,204,398 (GRCm38)	missense	probably damaging	1.00
R1925:Myh1	UTSW	11	67,211,170 (GRCm38)	missense	probably benign	0.01
R1967:Myh1	UTSW	11	67,213,447 (GRCm38)	missense	probably benign	0.08
R1999:Myh1	UTSW	11	67,222,408 (GRCm38)	missense	probably benign	0.04
R2067:Myh1	UTSW	11	67,214,620 (GRCm38)	missense	possibly damaging	0.83
R2111:Myh1	UTSW	11	67,214,620 (GRCm38)	missense	possibly damaging	0.83
R2150:Myh1	UTSW	11	67,222,408 (GRCm38)	missense	probably benign	0.04
R2189:Myh1	UTSW	11	67,221,604 (GRCm38)	missense	probably damaging	1.00
R2352:Myh1	UTSW	11	67,220,537 (GRCm38)	missense	probably benign	0.00
R2436:Myh1	UTSW	11	67,213,271 (GRCm38)	missense	probably benign	0.04
R2483:Myh1	UTSW	11	67,211,226 (GRCm38)	missense	probably benign
R2508:Myh1	UTSW	11	67,213,598 (GRCm38)	missense	possibly damaging	0.61
R2509:Myh1	UTSW	11	67,205,597 (GRCm38)	missense	probably benign	0.01
R2511:Myh1	UTSW	11	67,205,597 (GRCm38)	missense	probably benign	0.01
R2908:Myh1	UTSW	11	67,220,696 (GRCm38)	nonsense	probably null
R2966:Myh1	UTSW	11	67,214,584 (GRCm38)	missense	probably damaging	1.00
R3829:Myh1	UTSW	11	67,205,597 (GRCm38)	missense	probably benign	0.01
R4106:Myh1	UTSW	11	67,211,577 (GRCm38)	missense	probably benign	0.33
R4108:Myh1	UTSW	11	67,211,577 (GRCm38)	missense	probably benign	0.33
R4457:Myh1	UTSW	11	67,220,615 (GRCm38)	missense	probably benign	0.42
R4629:Myh1	UTSW	11	67,209,293 (GRCm38)	missense	probably benign	0.01
R4981:Myh1	UTSW	11	67,224,474 (GRCm38)	utr 3 prime	probably benign
R5032:Myh1	UTSW	11	67,206,048 (GRCm38)	nonsense	probably null
R5239:Myh1	UTSW	11	67,215,225 (GRCm38)	missense	probably benign	0.19
R5241:Myh1	UTSW	11	67,204,449 (GRCm38)	missense	probably benign
R5303:Myh1	UTSW	11	67,202,017 (GRCm38)	missense	probably benign	0.09
R5666:Myh1	UTSW	11	67,221,352 (GRCm38)	missense	probably benign	0.30
R5717:Myh1	UTSW	11	67,208,956 (GRCm38)	missense	probably benign
R5761:Myh1	UTSW	11	67,219,252 (GRCm38)	missense	probably damaging	0.98
R5870:Myh1	UTSW	11	67,201,979 (GRCm38)	missense	possibly damaging	0.70
R6077:Myh1	UTSW	11	67,211,447 (GRCm38)	missense	probably damaging	1.00
R6089:Myh1	UTSW	11	67,220,787 (GRCm38)	splice site	probably null
R6089:Myh1	UTSW	11	67,202,167 (GRCm38)	splice site	probably null
R6197:Myh1	UTSW	11	67,220,967 (GRCm38)	missense	probably benign	0.01
R6460:Myh1	UTSW	11	67,221,376 (GRCm38)	missense	probably benign
R6627:Myh1	UTSW	11	67,215,009 (GRCm38)	missense	probably damaging	1.00
R6634:Myh1	UTSW	11	67,209,064 (GRCm38)	missense	possibly damaging	0.90
R6725:Myh1	UTSW	11	67,201,893 (GRCm38)	missense	probably damaging	1.00
R6784:Myh1	UTSW	11	67,214,570 (GRCm38)	missense	probably damaging	0.99
R6813:Myh1	UTSW	11	67,220,460 (GRCm38)	missense	probably benign	0.34
R6866:Myh1	UTSW	11	67,224,393 (GRCm38)	missense	probably damaging	0.99
R6997:Myh1	UTSW	11	67,220,637 (GRCm38)	missense	possibly damaging	0.94
R7028:Myh1	UTSW	11	67,220,421 (GRCm38)	missense	possibly damaging	0.64
R7133:Myh1	UTSW	11	67,202,586 (GRCm38)	missense	probably benign
R7185:Myh1	UTSW	11	67,207,459 (GRCm38)	missense	probably damaging	1.00
R7194:Myh1	UTSW	11	67,211,357 (GRCm38)	missense	probably benign
R7283:Myh1	UTSW	11	67,201,844 (GRCm38)	critical splice acceptor site	probably null
R7336:Myh1	UTSW	11	67,220,609 (GRCm38)	missense	probably benign	0.00
R7348:Myh1	UTSW	11	67,202,539 (GRCm38)	missense	probably damaging	1.00
R7369:Myh1	UTSW	11	67,220,698 (GRCm38)	missense	probably damaging	1.00
R7375:Myh1	UTSW	11	67,210,428 (GRCm38)	missense	probably damaging	1.00
R7384:Myh1	UTSW	11	67,224,375 (GRCm38)	missense	possibly damaging	0.46
R7387:Myh1	UTSW	11	67,208,889 (GRCm38)	missense	probably benign	0.14
R7424:Myh1	UTSW	11	67,213,663 (GRCm38)	missense	probably damaging	1.00
R7430:Myh1	UTSW	11	67,205,567 (GRCm38)	nonsense	probably null
R7443:Myh1	UTSW	11	67,220,505 (GRCm38)	missense	probably benign
R7447:Myh1	UTSW	11	67,219,180 (GRCm38)	missense	probably benign	0.01
R7509:Myh1	UTSW	11	67,210,461 (GRCm38)	missense	probably benign	0.40
R7583:Myh1	UTSW	11	67,220,913 (GRCm38)	missense	probably benign	0.00
R7611:Myh1	UTSW	11	67,210,417 (GRCm38)	missense	possibly damaging	0.50
R7617:Myh1	UTSW	11	67,215,875 (GRCm38)	missense	possibly damaging	0.94
R7727:Myh1	UTSW	11	67,215,922 (GRCm38)	missense	probably benign	0.00
R8029:Myh1	UTSW	11	67,211,240 (GRCm38)	critical splice donor site	probably null
R8042:Myh1	UTSW	11	67,206,603 (GRCm38)	missense	probably damaging	1.00
R8080:Myh1	UTSW	11	67,211,402 (GRCm38)	missense	probably benign	0.10
R8117:Myh1	UTSW	11	67,222,205 (GRCm38)	missense	probably damaging	1.00
R8171:Myh1	UTSW	11	67,202,572 (GRCm38)	missense	probably damaging	1.00
R8183:Myh1	UTSW	11	67,202,006 (GRCm38)	missense	possibly damaging	0.50
R8397:Myh1	UTSW	11	67,221,639 (GRCm38)	missense	probably damaging	0.97
R8545:Myh1	UTSW	11	67,202,201 (GRCm38)	missense	probably benign	0.00
R8807:Myh1	UTSW	11	67,220,528 (GRCm38)	missense	probably benign	0.02
R8812:Myh1	UTSW	11	67,209,141 (GRCm38)	missense	probably benign	0.00
R8855:Myh1	UTSW	11	67,211,421 (GRCm38)	missense	probably damaging	1.00
R8906:Myh1	UTSW	11	67,205,913 (GRCm38)	missense	probably benign	0.02
R8959:Myh1	UTSW	11	67,211,502 (GRCm38)	missense	probably benign
R8992:Myh1	UTSW	11	67,205,781 (GRCm38)	missense	probably benign
R9140:Myh1	UTSW	11	67,209,263 (GRCm38)	missense	probably benign	0.04
R9293:Myh1	UTSW	11	67,209,103 (GRCm38)	missense	probably benign	0.25
R9366:Myh1	UTSW	11	67,219,288 (GRCm38)	missense	probably damaging	1.00
R9371:Myh1	UTSW	11	67,219,805 (GRCm38)	critical splice donor site	probably null
R9378:Myh1	UTSW	11	67,202,433 (GRCm38)	missense	probably damaging	0.99
R9482:Myh1	UTSW	11	67,217,919 (GRCm38)	missense	probably damaging	1.00
R9507:Myh1	UTSW	11	67,211,223 (GRCm38)	missense	probably benign	0.00
R9558:Myh1	UTSW	11	67,217,792 (GRCm38)	missense	possibly damaging	0.90
R9561:Myh1	UTSW	11	67,217,792 (GRCm38)	missense	possibly damaging	0.90
R9587:Myh1	UTSW	11	67,211,370 (GRCm38)	missense	probably benign	0.03
X0062:Myh1	UTSW	11	67,207,541 (GRCm38)	missense	probably damaging	0.99
Z1177:Myh1	UTSW	11	67,206,318 (GRCm38)	missense	probably damaging	1.00
Z1187:Myh1	UTSW	11	67,204,446 (GRCm38)	missense	probably benign
Z1188:Myh1	UTSW	11	67,204,446 (GRCm38)	missense	probably benign
Z1190:Myh1	UTSW	11	67,204,446 (GRCm38)	missense	probably benign
Z1191:Myh1	UTSW	11	67,204,446 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TTCAGCCCAAATCGAGATGAAC -3'
(R):5'- AGGAGCTCTGTTTTCGCTCC -3'

Sequencing Primer
(F):5'- CAGCCCAAATCGAGATGAACAAGAAG -3'
(R):5'- ATGGCTATTCTCACTTAGGGTG -3'

Posted On

2020-01-23