Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01922:Myh1'

180147

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 #

IGL01922

Quality Score

Status

Chromosome

Chromosomal Location

67090922-67115401 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 67101292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117569 (fasta)

Gene Model

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

AlphaFold

Q5SX40

Predicted Effect

probably null
Transcript: ENSMUST00000018637

SMART Domains

Protein: ENSMUSP00000018637
Gene: ENSMUSG00000056328

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 null
Transcript: ENSMUST00000075734

SMART Domains

Protein: ENSMUSP00000075147
Gene: ENSMUSG00000056328

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 null
Transcript: ENSMUST00000124516

SMART Domains

Protein: ENSMUSP00000117569
Gene: ENSMUSG00000056328

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam12	C	A	7: 133,539,201 (GRCm39)	G104*	probably null	Het
Adamtsl1	A	G	4: 86,168,139 (GRCm39)	K477R	probably damaging	Het
Arhgap35	A	C	7: 16,298,180 (GRCm39)	V295G	possibly damaging	Het
Cacna1c	A	T	6: 118,629,629 (GRCm39)	I1234N	probably damaging	Het
Cntnap5c	A	G	17: 58,637,114 (GRCm39)	E997G	possibly damaging	Het
Cog6	T	C	3: 52,893,846 (GRCm39)	N601S	probably benign	Het
Col28a1	G	T	6: 8,158,133 (GRCm39)	D308E	probably damaging	Het
Cplane1	A	G	15: 8,300,305 (GRCm39)	K3204R	unknown	Het
Cspg4	G	A	9: 56,795,171 (GRCm39)	D969N	probably damaging	Het
Dhx8	G	A	11: 101,630,633 (GRCm39)	V347I	probably damaging	Het
Dnah9	G	T	11: 65,965,860 (GRCm39)		probably benign	Het
Erap1	T	C	13: 74,810,506 (GRCm39)	Y282H	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
H2-T3	A	G	17: 36,497,992 (GRCm39)	M307T	possibly damaging	Het
Ifi204	T	C	1: 173,589,288 (GRCm39)	I48V	possibly damaging	Het
Nphp1	T	C	2: 127,621,989 (GRCm39)	Y46C	possibly damaging	Het
Odad3	G	T	9: 21,904,826 (GRCm39)		probably benign	Het
Or14j7	A	T	17: 38,234,850 (GRCm39)	H131L	possibly damaging	Het
Or2t46	G	A	11: 58,471,899 (GRCm39)	M76I	probably benign	Het
Piezo1	G	T	8: 123,219,431 (GRCm39)	S1066R	probably benign	Het
Plekhh1	T	C	12: 79,126,353 (GRCm39)	S1353P	probably benign	Het
Prl6a1	A	T	13: 27,499,343 (GRCm39)	D37V	possibly damaging	Het
Scn4a	A	G	11: 106,229,978 (GRCm39)		probably null	Het
Selenoo	T	C	15: 88,983,852 (GRCm39)	V585A	probably benign	Het
Tmf1	T	C	6: 97,153,891 (GRCm39)	T61A	probably benign	Het
Tshz3	A	G	7: 36,469,030 (GRCm39)	T340A	probably damaging	Het
Unc50	A	G	1: 37,476,284 (GRCm39)	D148G	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Xpc	C	T	6: 91,482,407 (GRCm39)	R192H	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
IGL01759:Myh1	APN	11	67,110,732 (GRCm39)	missense	probably damaging	1.00
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

2014-05-07