Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01759:Myh1'

153512

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh1

Ensembl Gene

ENSMUSG00000056328

Gene Name

myosin, heavy polypeptide 1, skeletal muscle, adult

Synonyms

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01759

Quality Score

Status

Chromosome

Chromosomal Location

67090922-67115401 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67110732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1518 (D1518G)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

AlphaFold

Q5SX40

Predicted Effect

probably damaging
Transcript: ENSMUST00000018637
AA Change: D1518G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: D1518G

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 damaging
Transcript: ENSMUST00000075734
AA Change: D1518G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: D1518G

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 damaging
Transcript: ENSMUST00000124516
AA Change: D1518G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: D1518G

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

noncoding transcript
Transcript: ENSMUST00000137662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145021

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149070

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	A	T	11: 95,726,625 (GRCm39)	D150E	probably damaging	Het
Akr1c14	T	A	13: 4,131,139 (GRCm39)	I277N	probably damaging	Het
Ap1b1	C	T	11: 4,969,433 (GRCm39)	T263I	probably damaging	Het
Atp6v0d2	C	A	4: 19,878,335 (GRCm39)	V313L	probably damaging	Het
Car2	G	A	3: 14,960,688 (GRCm39)		probably null	Het
Cdh17	T	A	4: 11,771,262 (GRCm39)		probably benign	Het
Cep295	A	G	9: 15,234,855 (GRCm39)		probably null	Het
Cep97	T	C	16: 55,750,936 (GRCm39)	K27E	probably damaging	Het
Cops5	A	T	1: 10,097,474 (GRCm39)	N258K	probably damaging	Het
Dchs1	T	A	7: 105,404,509 (GRCm39)	T2678S	probably benign	Het
Dnah10	T	A	5: 124,832,850 (GRCm39)	F861Y	probably benign	Het
Dock10	T	C	1: 80,503,990 (GRCm39)	E1777G	probably damaging	Het
Dock5	G	A	14: 68,118,708 (GRCm39)	Q23*	probably null	Het
Ermp1	T	C	19: 29,593,236 (GRCm39)	K752R	probably benign	Het
Fhip1a	A	C	3: 85,595,754 (GRCm39)	I377S	probably damaging	Het
Gjd2	T	A	2: 113,841,587 (GRCm39)	I297L	probably benign	Het
Gm1123	T	C	9: 98,905,307 (GRCm39)	M68V	probably benign	Het
Gm28372	C	T	2: 130,248,818 (GRCm39)	R59W	probably damaging	Het
Gm9912	A	C	3: 148,891,074 (GRCm39)	F20V	unknown	Het
Gpat2	T	C	2: 127,272,816 (GRCm39)	F176S	possibly damaging	Het
Gpr150	T	C	13: 76,203,784 (GRCm39)	H387R	possibly damaging	Het
Gpr20	T	A	15: 73,568,269 (GRCm39)	D40V	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Jakmip3	A	T	7: 138,622,633 (GRCm39)	Q331L	probably damaging	Het
Kif5b	A	G	18: 6,225,647 (GRCm39)	V179A	probably damaging	Het
Kif5b	A	T	18: 6,211,019 (GRCm39)		probably benign	Het
Krt14	A	T	11: 100,095,242 (GRCm39)		probably benign	Het
L3mbtl3	A	G	10: 26,207,798 (GRCm39)	F307S	unknown	Het
Laptm4a	T	C	12: 8,984,687 (GRCm39)		probably benign	Het
Marveld3	T	C	8: 110,674,719 (GRCm39)	S366G	possibly damaging	Het
Mga	C	A	2: 119,781,676 (GRCm39)	T2234K	possibly damaging	Het
Mkrn2os	T	C	6: 115,569,292 (GRCm39)	N54S	probably benign	Het
Mras	T	C	9: 99,293,548 (GRCm39)	I31V	probably damaging	Het
Myoz2	A	T	3: 122,807,430 (GRCm39)	Y127N	possibly damaging	Het
Nhlrc1	C	A	13: 47,167,438 (GRCm39)	W273L	probably benign	Het
Nol9	C	T	4: 152,130,500 (GRCm39)		probably benign	Het
Nrxn2	T	C	19: 6,559,959 (GRCm39)	V1206A	probably damaging	Het
Or2ag1b	T	C	7: 106,288,540 (GRCm39)	T133A	probably benign	Het
Or5k16	A	T	16: 58,736,291 (GRCm39)	F238I	probably damaging	Het
Or6c5	T	A	10: 129,074,941 (GRCm39)	F308I	probably benign	Het
Or6f2	T	C	7: 139,756,447 (GRCm39)	I138T	probably benign	Het
Or8g2b	T	A	9: 39,750,907 (GRCm39)	M59K	probably damaging	Het
Pappa	T	C	4: 65,123,395 (GRCm39)		probably null	Het
Pfkl	A	G	10: 77,836,565 (GRCm39)	S151P	probably damaging	Het
Pgbd5	C	T	8: 125,111,118 (GRCm39)	G191D	probably damaging	Het
Pikfyve	T	C	1: 65,292,512 (GRCm39)	V1276A	probably benign	Het
Pla2g4c	T	A	7: 13,082,241 (GRCm39)	Y486N	probably damaging	Het
Rasal2	C	A	1: 157,003,502 (GRCm39)	V386L	probably benign	Het
S1pr3	G	A	13: 51,573,548 (GRCm39)	R243Q	probably damaging	Het
Slc44a4	A	G	17: 35,140,219 (GRCm39)	D208G	probably benign	Het
Slc6a4	T	C	11: 76,904,114 (GRCm39)	S190P	probably damaging	Het
Snapc5	A	T	9: 64,087,779 (GRCm39)		probably null	Het
Tbc1d14	C	A	5: 36,728,913 (GRCm39)	R151L	probably damaging	Het
Tecpr2	T	A	12: 110,897,826 (GRCm39)		probably benign	Het
Tmem219	G	A	7: 126,496,310 (GRCm39)	P44L	probably damaging	Het
Ube2e1	T	C	14: 18,330,951 (GRCm38)	R51G	probably null	Het
Ugp2	T	C	11: 21,303,447 (GRCm39)	K53E	probably benign	Het
Vmn1r214	T	C	13: 23,218,662 (GRCm39)	I52T	probably benign	Het
Vmn2r124	C	T	17: 18,284,330 (GRCm39)	T457I	probably benign	Het
Vps13b	A	G	15: 35,878,935 (GRCm39)	E2978G	probably damaging	Het
Zfr	A	G	15: 12,159,741 (GRCm39)	D679G	probably damaging	Het
Zhx3	T	C	2: 160,622,634 (GRCm39)	N511S	probably damaging	Het

Other mutations in Myh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myh1	APN	11	67,111,691 (GRCm39)	missense	probably damaging	0.99
IGL00514:Myh1	APN	11	67,110,610 (GRCm39)	missense	probably damaging	1.00
IGL00851:Myh1	APN	11	67,108,736 (GRCm39)	missense	probably damaging	0.96
IGL01061:Myh1	APN	11	67,108,688 (GRCm39)	missense	probably benign	0.05
IGL01113:Myh1	APN	11	67,093,006 (GRCm39)	missense	probably benign	0.00
IGL01125:Myh1	APN	11	67,111,486 (GRCm39)	missense	probably benign
IGL01391:Myh1	APN	11	67,108,689 (GRCm39)	missense	probably benign	0.00
IGL01392:Myh1	APN	11	67,112,127 (GRCm39)	missense	probably benign	0.20
IGL01404:Myh1	APN	11	67,112,977 (GRCm39)	missense	possibly damaging	0.83
IGL01700:Myh1	APN	11	67,102,238 (GRCm39)	missense	probably damaging	1.00
IGL01739:Myh1	APN	11	67,105,354 (GRCm39)	missense	probably damaging	0.99
IGL01922:Myh1	APN	11	67,101,292 (GRCm39)	critical splice donor site	probably null
IGL01952:Myh1	APN	11	67,111,218 (GRCm39)	splice site	probably null
IGL02007:Myh1	APN	11	67,111,382 (GRCm39)	missense	probably benign	0.03
IGL02028:Myh1	APN	11	67,101,441 (GRCm39)	missense	probably damaging	1.00
IGL02245:Myh1	APN	11	67,102,313 (GRCm39)	missense	possibly damaging	0.58
IGL02628:Myh1	APN	11	67,097,088 (GRCm39)	unclassified	probably benign
IGL02942:Myh1	APN	11	67,093,308 (GRCm39)	missense	probably damaging	1.00
IGL02967:Myh1	APN	11	67,099,896 (GRCm39)	missense	possibly damaging	0.76
IGL03031:Myh1	APN	11	67,097,213 (GRCm39)	missense	possibly damaging	0.47
IGL03187:Myh1	APN	11	67,097,351 (GRCm39)	missense	possibly damaging	0.56
IGL03302:Myh1	APN	11	67,102,328 (GRCm39)	missense	probably benign	0.01
compelling	UTSW	11	67,110,631 (GRCm39)	critical splice donor site	probably null
convincing	UTSW	11	67,093,365 (GRCm39)	missense	probably damaging	1.00
muscle	UTSW	11	67,096,874 (GRCm39)	nonsense	probably null
Persuasive	UTSW	11	67,099,890 (GRCm39)	missense	possibly damaging	0.90
G1patch:Myh1	UTSW	11	67,092,719 (GRCm39)	missense	probably damaging	1.00
R0041:Myh1	UTSW	11	67,099,904 (GRCm39)	missense	possibly damaging	0.88
R0079:Myh1	UTSW	11	67,104,237 (GRCm39)	missense	probably damaging	1.00
R0081:Myh1	UTSW	11	67,106,683 (GRCm39)	missense	probably benign
R0317:Myh1	UTSW	11	67,108,338 (GRCm39)	missense	probably damaging	1.00
R0465:Myh1	UTSW	11	67,101,243 (GRCm39)	missense	possibly damaging	0.50
R0528:Myh1	UTSW	11	67,111,445 (GRCm39)	missense	probably damaging	1.00
R0731:Myh1	UTSW	11	67,093,359 (GRCm39)	missense	probably damaging	0.98
R0964:Myh1	UTSW	11	67,112,430 (GRCm39)	missense	probably damaging	1.00
R0964:Myh1	UTSW	11	67,096,751 (GRCm39)	missense	probably benign
R1427:Myh1	UTSW	11	67,110,573 (GRCm39)	missense	probably damaging	0.99
R1429:Myh1	UTSW	11	67,108,736 (GRCm39)	missense	possibly damaging	0.78
R1481:Myh1	UTSW	11	67,096,325 (GRCm39)	unclassified	probably benign
R1562:Myh1	UTSW	11	67,102,196 (GRCm39)	missense	probably benign	0.04
R1727:Myh1	UTSW	11	67,101,292 (GRCm39)	critical splice donor site	probably benign
R1796:Myh1	UTSW	11	67,115,183 (GRCm39)	missense	probably benign	0.00
R1808:Myh1	UTSW	11	67,102,300 (GRCm39)	nonsense	probably null
R1836:Myh1	UTSW	11	67,095,648 (GRCm39)	missense	probably damaging	0.98
R1848:Myh1	UTSW	11	67,104,456 (GRCm39)	missense	probably benign	0.10
R1851:Myh1	UTSW	11	67,095,224 (GRCm39)	missense	probably damaging	1.00
R1925:Myh1	UTSW	11	67,101,996 (GRCm39)	missense	probably benign	0.01
R1967:Myh1	UTSW	11	67,104,273 (GRCm39)	missense	probably benign	0.08
R1999:Myh1	UTSW	11	67,113,234 (GRCm39)	missense	probably benign	0.04
R2067:Myh1	UTSW	11	67,105,446 (GRCm39)	missense	possibly damaging	0.83
R2111:Myh1	UTSW	11	67,105,446 (GRCm39)	missense	possibly damaging	0.83
R2150:Myh1	UTSW	11	67,113,234 (GRCm39)	missense	probably benign	0.04
R2189:Myh1	UTSW	11	67,112,430 (GRCm39)	missense	probably damaging	1.00
R2352:Myh1	UTSW	11	67,111,363 (GRCm39)	missense	probably benign	0.00
R2436:Myh1	UTSW	11	67,104,097 (GRCm39)	missense	probably benign	0.04
R2483:Myh1	UTSW	11	67,102,052 (GRCm39)	missense	probably benign
R2508:Myh1	UTSW	11	67,104,424 (GRCm39)	missense	possibly damaging	0.61
R2509:Myh1	UTSW	11	67,096,423 (GRCm39)	missense	probably benign	0.01
R2511:Myh1	UTSW	11	67,096,423 (GRCm39)	missense	probably benign	0.01
R2908:Myh1	UTSW	11	67,111,522 (GRCm39)	nonsense	probably null
R2966:Myh1	UTSW	11	67,105,410 (GRCm39)	missense	probably damaging	1.00
R3829:Myh1	UTSW	11	67,096,423 (GRCm39)	missense	probably benign	0.01
R4106:Myh1	UTSW	11	67,102,403 (GRCm39)	missense	probably benign	0.33
R4108:Myh1	UTSW	11	67,102,403 (GRCm39)	missense	probably benign	0.33
R4457:Myh1	UTSW	11	67,111,441 (GRCm39)	missense	probably benign	0.42
R4629:Myh1	UTSW	11	67,100,119 (GRCm39)	missense	probably benign	0.01
R4981:Myh1	UTSW	11	67,115,300 (GRCm39)	utr 3 prime	probably benign
R5032:Myh1	UTSW	11	67,096,874 (GRCm39)	nonsense	probably null
R5239:Myh1	UTSW	11	67,106,051 (GRCm39)	missense	probably benign	0.19
R5241:Myh1	UTSW	11	67,095,275 (GRCm39)	missense	probably benign
R5303:Myh1	UTSW	11	67,092,843 (GRCm39)	missense	probably benign	0.09
R5666:Myh1	UTSW	11	67,112,178 (GRCm39)	missense	probably benign	0.30
R5717:Myh1	UTSW	11	67,099,782 (GRCm39)	missense	probably benign
R5761:Myh1	UTSW	11	67,110,078 (GRCm39)	missense	probably damaging	0.98
R5870:Myh1	UTSW	11	67,092,805 (GRCm39)	missense	possibly damaging	0.70
R6077:Myh1	UTSW	11	67,102,273 (GRCm39)	missense	probably damaging	1.00
R6089:Myh1	UTSW	11	67,111,613 (GRCm39)	splice site	probably null
R6089:Myh1	UTSW	11	67,092,993 (GRCm39)	splice site	probably null
R6197:Myh1	UTSW	11	67,111,793 (GRCm39)	missense	probably benign	0.01
R6460:Myh1	UTSW	11	67,112,202 (GRCm39)	missense	probably benign
R6627:Myh1	UTSW	11	67,105,835 (GRCm39)	missense	probably damaging	1.00
R6634:Myh1	UTSW	11	67,099,890 (GRCm39)	missense	possibly damaging	0.90
R6725:Myh1	UTSW	11	67,092,719 (GRCm39)	missense	probably damaging	1.00
R6784:Myh1	UTSW	11	67,105,396 (GRCm39)	missense	probably damaging	0.99
R6813:Myh1	UTSW	11	67,111,286 (GRCm39)	missense	probably benign	0.34
R6866:Myh1	UTSW	11	67,115,219 (GRCm39)	missense	probably damaging	0.99
R6997:Myh1	UTSW	11	67,111,463 (GRCm39)	missense	possibly damaging	0.94
R7028:Myh1	UTSW	11	67,111,247 (GRCm39)	missense	possibly damaging	0.64
R7133:Myh1	UTSW	11	67,093,412 (GRCm39)	missense	probably benign
R7185:Myh1	UTSW	11	67,098,285 (GRCm39)	missense	probably damaging	1.00
R7194:Myh1	UTSW	11	67,102,183 (GRCm39)	missense	probably benign
R7283:Myh1	UTSW	11	67,092,670 (GRCm39)	critical splice acceptor site	probably null
R7336:Myh1	UTSW	11	67,111,435 (GRCm39)	missense	probably benign	0.00
R7348:Myh1	UTSW	11	67,093,365 (GRCm39)	missense	probably damaging	1.00
R7369:Myh1	UTSW	11	67,111,524 (GRCm39)	missense	probably damaging	1.00
R7375:Myh1	UTSW	11	67,101,254 (GRCm39)	missense	probably damaging	1.00
R7384:Myh1	UTSW	11	67,115,201 (GRCm39)	missense	possibly damaging	0.46
R7387:Myh1	UTSW	11	67,099,715 (GRCm39)	missense	probably benign	0.14
R7424:Myh1	UTSW	11	67,104,489 (GRCm39)	missense	probably damaging	1.00
R7430:Myh1	UTSW	11	67,096,393 (GRCm39)	nonsense	probably null
R7443:Myh1	UTSW	11	67,111,331 (GRCm39)	missense	probably benign
R7447:Myh1	UTSW	11	67,110,006 (GRCm39)	missense	probably benign	0.01
R7509:Myh1	UTSW	11	67,101,287 (GRCm39)	missense	probably benign	0.40
R7583:Myh1	UTSW	11	67,111,739 (GRCm39)	missense	probably benign	0.00
R7611:Myh1	UTSW	11	67,101,243 (GRCm39)	missense	possibly damaging	0.50
R7617:Myh1	UTSW	11	67,106,701 (GRCm39)	missense	possibly damaging	0.94
R7727:Myh1	UTSW	11	67,106,748 (GRCm39)	missense	probably benign	0.00
R8029:Myh1	UTSW	11	67,102,066 (GRCm39)	critical splice donor site	probably null
R8042:Myh1	UTSW	11	67,097,429 (GRCm39)	missense	probably damaging	1.00
R8060:Myh1	UTSW	11	67,106,077 (GRCm39)	missense	probably benign
R8080:Myh1	UTSW	11	67,102,228 (GRCm39)	missense	probably benign	0.10
R8117:Myh1	UTSW	11	67,113,031 (GRCm39)	missense	probably damaging	1.00
R8171:Myh1	UTSW	11	67,093,398 (GRCm39)	missense	probably damaging	1.00
R8183:Myh1	UTSW	11	67,092,832 (GRCm39)	missense	possibly damaging	0.50
R8397:Myh1	UTSW	11	67,112,465 (GRCm39)	missense	probably damaging	0.97
R8545:Myh1	UTSW	11	67,093,027 (GRCm39)	missense	probably benign	0.00
R8807:Myh1	UTSW	11	67,111,354 (GRCm39)	missense	probably benign	0.02
R8812:Myh1	UTSW	11	67,099,967 (GRCm39)	missense	probably benign	0.00
R8855:Myh1	UTSW	11	67,102,247 (GRCm39)	missense	probably damaging	1.00
R8906:Myh1	UTSW	11	67,096,739 (GRCm39)	missense	probably benign	0.02
R8959:Myh1	UTSW	11	67,102,328 (GRCm39)	missense	probably benign
R8992:Myh1	UTSW	11	67,096,607 (GRCm39)	missense	probably benign
R9140:Myh1	UTSW	11	67,100,089 (GRCm39)	missense	probably benign	0.04
R9293:Myh1	UTSW	11	67,099,929 (GRCm39)	missense	probably benign	0.25
R9366:Myh1	UTSW	11	67,110,114 (GRCm39)	missense	probably damaging	1.00
R9371:Myh1	UTSW	11	67,110,631 (GRCm39)	critical splice donor site	probably null
R9378:Myh1	UTSW	11	67,093,259 (GRCm39)	missense	probably damaging	0.99
R9482:Myh1	UTSW	11	67,108,745 (GRCm39)	missense	probably damaging	1.00
R9507:Myh1	UTSW	11	67,102,049 (GRCm39)	missense	probably benign	0.00
R9558:Myh1	UTSW	11	67,108,618 (GRCm39)	missense	possibly damaging	0.90
R9561:Myh1	UTSW	11	67,108,618 (GRCm39)	missense	possibly damaging	0.90
R9587:Myh1	UTSW	11	67,102,196 (GRCm39)	missense	probably benign	0.03
X0062:Myh1	UTSW	11	67,098,367 (GRCm39)	missense	probably damaging	0.99
Z1177:Myh1	UTSW	11	67,097,144 (GRCm39)	missense	probably damaging	1.00
Z1187:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign
Z1188:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign
Z1190:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign
Z1191:Myh1	UTSW	11	67,095,272 (GRCm39)	missense	probably benign

Posted On

2014-02-04