Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01061:Myh1'

52190

Institutional Source

Australian Phenomics Network (link to record)

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01061

Quality Score

Status

Chromosome

Chromosomal Location

67200052-67224575 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 67217862 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1368 (M1368K)

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000018637
AA Change: M1368K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328
AA Change: M1368K

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: M1368K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328
AA Change: M1368K

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: M1368K

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328
AA Change: M1368K

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: ENSMUST00000145021

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Ankfy1	T	A	11: 72,728,860	C186*	probably null	Het
Ankmy1	A	T	1: 92,870,974		probably benign	Het
B3gnt2	T	A	11: 22,836,042	E382V	probably damaging	Het
Carmil3	T	G	14: 55,498,630	S610A	possibly damaging	Het
Cfap70	T	C	14: 20,447,625		probably benign	Het
Chek1	G	A	9: 36,714,519	R277C	possibly damaging	Het
Cpb1	T	A	3: 20,266,516	I92L	probably benign	Het
Ddx56	C	T	11: 6,264,671		probably null	Het
Dicer1	A	T	12: 104,706,327	M887K	probably null	Het
Dnajc18	A	G	18: 35,680,942		probably benign	Het
Dock2	A	G	11: 34,705,826	V401A	probably damaging	Het
Dock4	A	C	12: 40,702,969	N434T	probably benign	Het
Ehbp1l1	A	T	19: 5,717,888	M1129K	probably benign	Het
Fam83a	A	T	15: 57,986,375	Y105F	possibly damaging	Het
Fnbp1	C	A	2: 31,083,042	D70Y	probably damaging	Het
Gtf3c2	A	G	5: 31,168,354	F414L	possibly damaging	Het
Kdelc2	A	G	9: 53,388,587		probably benign	Het
Kndc1	A	T	7: 139,922,694	E965D	probably benign	Het
Lrrc66	T	C	5: 73,615,499	K209E	probably benign	Het
Mcm3	A	T	1: 20,814,496	I261N	possibly damaging	Het
Mier3	T	A	13: 111,714,436		probably benign	Het
Muc6	T	C	7: 141,648,454	E669G	probably damaging	Het
Nav1	A	G	1: 135,450,630	I1653T	probably damaging	Het
Nuak1	C	A	10: 84,375,134	L363F	probably damaging	Het
Olfr113	A	G	17: 37,574,904	I173T	possibly damaging	Het
Olfr1502	T	C	19: 13,862,705	V304A	possibly damaging	Het
Olfr690	A	G	7: 105,329,382	I270T	possibly damaging	Het
Pkd1l3	A	G	8: 109,638,706	H1153R	probably damaging	Het
Ppp6r2	A	T	15: 89,286,015		probably benign	Het
Prelid3b	T	C	2: 174,465,821		probably null	Het
Prrt3	T	C	6: 113,497,770	K164E	possibly damaging	Het
Rab22a	T	A	2: 173,688,210	D60E	probably damaging	Het
Rab32	A	G	10: 10,557,874	L72P	probably damaging	Het
Samm50	A	G	15: 84,202,254	T225A	probably benign	Het
Snx27	T	A	3: 94,528,980		probably benign	Het
Taf7	G	A	18: 37,643,433	T27M	probably damaging	Het
Tgm5	A	T	2: 121,071,496	C231S	probably benign	Het
Tll1	A	G	8: 64,038,454		probably null	Het
Tmem150a	A	G	6: 72,357,118	D61G	probably damaging	Het
Ttll8	G	A	15: 88,917,250	R412C	possibly damaging	Het
Ubr3	T	A	2: 69,983,225	D1293E	probably benign	Het
Utp20	T	C	10: 88,770,704	N1669D	probably benign	Het
Vmn2r28	A	G	7: 5,488,184	W355R	probably damaging	Het
Wdr60	C	A	12: 116,229,704	A543S	probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	Het
Zfhx2	T	A	14: 55,073,882	N452Y	possibly damaging	Het
Zfp180	T	G	7: 24,104,745	D196E	possibly damaging	Het

Other mutations in Myh1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Myh1	APN	11	67220865	missense	probably damaging	0.99
IGL00514:Myh1	APN	11	67219784	missense	probably damaging	1.00
IGL00851:Myh1	APN	11	67217910	missense	probably damaging	0.96
IGL01113:Myh1	APN	11	67202180	missense	probably benign	0.00
IGL01125:Myh1	APN	11	67220660	missense	probably benign
IGL01391:Myh1	APN	11	67217863	missense	probably benign	0.00
IGL01392:Myh1	APN	11	67221301	missense	probably benign	0.20
IGL01404:Myh1	APN	11	67222151	missense	possibly damaging	0.83
IGL01700:Myh1	APN	11	67211412	missense	probably damaging	1.00
IGL01739:Myh1	APN	11	67214528	missense	probably damaging	0.99
IGL01759:Myh1	APN	11	67219906	missense	probably damaging	1.00
IGL01922:Myh1	APN	11	67210466	critical splice donor site	probably null
IGL01952:Myh1	APN	11	67220392	splice site	probably null
IGL02007:Myh1	APN	11	67220556	missense	probably benign	0.03
IGL02028:Myh1	APN	11	67210615	missense	probably damaging	1.00
IGL02245:Myh1	APN	11	67211487	missense	possibly damaging	0.58
IGL02628:Myh1	APN	11	67206262	unclassified	probably benign
IGL02942:Myh1	APN	11	67202482	missense	probably damaging	1.00
IGL02967:Myh1	APN	11	67209070	missense	possibly damaging	0.76
IGL03031:Myh1	APN	11	67206387	missense	possibly damaging	0.47
IGL03187:Myh1	APN	11	67206525	missense	possibly damaging	0.56
IGL03302:Myh1	APN	11	67211502	missense	probably benign	0.01
convincing	UTSW	11	67202539	missense	probably damaging	1.00
muscle	UTSW	11	67206048	nonsense	probably null
Persuasive	UTSW	11	67209064	missense	possibly damaging	0.90
G1patch:Myh1	UTSW	11	67201893	missense	probably damaging	1.00
R0041:Myh1	UTSW	11	67209078	missense	possibly damaging	0.88
R0079:Myh1	UTSW	11	67213411	missense	probably damaging	1.00
R0081:Myh1	UTSW	11	67215857	missense	probably benign
R0317:Myh1	UTSW	11	67217512	missense	probably damaging	1.00
R0465:Myh1	UTSW	11	67210417	missense	possibly damaging	0.50
R0528:Myh1	UTSW	11	67220619	missense	probably damaging	1.00
R0731:Myh1	UTSW	11	67202533	missense	probably damaging	0.98
R0964:Myh1	UTSW	11	67205925	missense	probably benign
R0964:Myh1	UTSW	11	67221604	missense	probably damaging	1.00
R1427:Myh1	UTSW	11	67219747	missense	probably damaging	0.99
R1429:Myh1	UTSW	11	67217910	missense	possibly damaging	0.78
R1481:Myh1	UTSW	11	67205499	unclassified	probably benign
R1562:Myh1	UTSW	11	67211370	missense	probably benign	0.04
R1727:Myh1	UTSW	11	67210466	critical splice donor site	probably benign
R1796:Myh1	UTSW	11	67224357	missense	probably benign	0.00
R1808:Myh1	UTSW	11	67211474	nonsense	probably null
R1836:Myh1	UTSW	11	67204822	missense	probably damaging	0.98
R1848:Myh1	UTSW	11	67213630	missense	probably benign	0.10
R1851:Myh1	UTSW	11	67204398	missense	probably damaging	1.00
R1925:Myh1	UTSW	11	67211170	missense	probably benign	0.01
R1967:Myh1	UTSW	11	67213447	missense	probably benign	0.08
R1999:Myh1	UTSW	11	67222408	missense	probably benign	0.04
R2067:Myh1	UTSW	11	67214620	missense	possibly damaging	0.83
R2111:Myh1	UTSW	11	67214620	missense	possibly damaging	0.83
R2150:Myh1	UTSW	11	67222408	missense	probably benign	0.04
R2189:Myh1	UTSW	11	67221604	missense	probably damaging	1.00
R2352:Myh1	UTSW	11	67220537	missense	probably benign	0.00
R2436:Myh1	UTSW	11	67213271	missense	probably benign	0.04
R2483:Myh1	UTSW	11	67211226	missense	probably benign
R2508:Myh1	UTSW	11	67213598	missense	possibly damaging	0.61
R2509:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R2511:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R2908:Myh1	UTSW	11	67220696	nonsense	probably null
R2966:Myh1	UTSW	11	67214584	missense	probably damaging	1.00
R3829:Myh1	UTSW	11	67205597	missense	probably benign	0.01
R4106:Myh1	UTSW	11	67211577	missense	probably benign	0.33
R4108:Myh1	UTSW	11	67211577	missense	probably benign	0.33
R4457:Myh1	UTSW	11	67220615	missense	probably benign	0.42
R4629:Myh1	UTSW	11	67209293	missense	probably benign	0.01
R4981:Myh1	UTSW	11	67224474	utr 3 prime	probably benign
R5032:Myh1	UTSW	11	67206048	nonsense	probably null
R5239:Myh1	UTSW	11	67215225	missense	probably benign	0.19
R5241:Myh1	UTSW	11	67204449	missense	probably benign
R5303:Myh1	UTSW	11	67202017	missense	probably benign	0.09
R5666:Myh1	UTSW	11	67221352	missense	probably benign	0.30
R5717:Myh1	UTSW	11	67208956	missense	probably benign
R5761:Myh1	UTSW	11	67219252	missense	probably damaging	0.98
R5870:Myh1	UTSW	11	67201979	missense	possibly damaging	0.70
R6077:Myh1	UTSW	11	67211447	missense	probably damaging	1.00
R6089:Myh1	UTSW	11	67202167	splice site	probably null
R6089:Myh1	UTSW	11	67220787	splice site	probably null
R6197:Myh1	UTSW	11	67220967	missense	probably benign	0.01
R6460:Myh1	UTSW	11	67221376	missense	probably benign
R6627:Myh1	UTSW	11	67215009	missense	probably damaging	1.00
R6634:Myh1	UTSW	11	67209064	missense	possibly damaging	0.90
R6725:Myh1	UTSW	11	67201893	missense	probably damaging	1.00
R6784:Myh1	UTSW	11	67214570	missense	probably damaging	0.99
R6813:Myh1	UTSW	11	67220460	missense	probably benign	0.34
R6866:Myh1	UTSW	11	67224393	missense	probably damaging	0.99
R6997:Myh1	UTSW	11	67220637	missense	possibly damaging	0.94
R7028:Myh1	UTSW	11	67220421	missense	possibly damaging	0.64
R7133:Myh1	UTSW	11	67202586	missense	probably benign
R7185:Myh1	UTSW	11	67207459	missense	probably damaging	1.00
R7194:Myh1	UTSW	11	67211357	missense	probably benign
R7283:Myh1	UTSW	11	67201844	critical splice acceptor site	probably null
R7336:Myh1	UTSW	11	67220609	missense	probably benign	0.00
R7348:Myh1	UTSW	11	67202539	missense	probably damaging	1.00
R7369:Myh1	UTSW	11	67220698	missense	probably damaging	1.00
R7375:Myh1	UTSW	11	67210428	missense	probably damaging	1.00
R7384:Myh1	UTSW	11	67224375	missense	possibly damaging	0.46
R7387:Myh1	UTSW	11	67208889	missense	probably benign	0.14
R7424:Myh1	UTSW	11	67213663	missense	probably damaging	1.00
R7430:Myh1	UTSW	11	67205567	nonsense	probably null
R7443:Myh1	UTSW	11	67220505	missense	probably benign
R7447:Myh1	UTSW	11	67219180	missense	probably benign	0.01
R7509:Myh1	UTSW	11	67210461	missense	probably benign	0.40
R7583:Myh1	UTSW	11	67220913	missense	probably benign	0.00
R7611:Myh1	UTSW	11	67210417	missense	possibly damaging	0.50
R7617:Myh1	UTSW	11	67215875	missense	possibly damaging	0.94
R7727:Myh1	UTSW	11	67215922	missense	probably benign	0.00
R8029:Myh1	UTSW	11	67211240	critical splice donor site	probably null
R8042:Myh1	UTSW	11	67206603	missense	probably damaging	1.00
R8060:Myh1	UTSW	11	67215251	missense	probably benign
R8080:Myh1	UTSW	11	67211402	missense	probably benign	0.10
R8117:Myh1	UTSW	11	67222205	missense	probably damaging	1.00
R8171:Myh1	UTSW	11	67202572	missense	probably damaging	1.00
R8183:Myh1	UTSW	11	67202006	missense	possibly damaging	0.50
R8397:Myh1	UTSW	11	67221639	missense	probably damaging	0.97
R8545:Myh1	UTSW	11	67202201	missense	probably benign	0.00
X0062:Myh1	UTSW	11	67207541	missense	probably damaging	0.99
Z1177:Myh1	UTSW	11	67206318	missense	probably damaging	1.00
Z1187:Myh1	UTSW	11	67204446	missense	probably benign
Z1188:Myh1	UTSW	11	67204446	missense	probably benign
Z1190:Myh1	UTSW	11	67204446	missense	probably benign
Z1191:Myh1	UTSW	11	67204446	missense	probably benign

Posted On

2013-06-21