Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02559:Myh3'

298629

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Myh3

Ensembl Gene

ENSMUSG00000020908

Gene Name

myosin, heavy polypeptide 3, skeletal muscle, embryonic

Synonyms

Myhse, Myhs-e, MyHC-emb

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.593) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

66969126-66993117 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 66991921 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1822 (E1822G)

Ref Sequence

ENSEMBL: ENSMUSP00000131883 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]

AlphaFold

P13541

Predicted Effect

possibly damaging
Transcript: ENSMUST00000007301
AA Change: E1822G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: E1822G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-14	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
low complexity region	844	856	N/A	INTRINSIC
low complexity region	925	939	N/A	INTRINSIC
low complexity region	1020	1028	N/A	INTRINSIC
Pfam:Myosin_tail_1	1069	1927	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108689
AA Change: E1822G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: E1822G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	76	1.1e-14	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
low complexity region	844	856	N/A	INTRINSIC
low complexity region	925	939	N/A	INTRINSIC
low complexity region	1020	1028	N/A	INTRINSIC
Pfam:Myosin_tail_1	1069	1927	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000165221
AA Change: E1822G

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: E1822G

Domain	Start	End	E-Value	Type
Pfam:Myosin_N	35	74	2.2e-13	PFAM
MYSc	80	780	N/A	SMART
IQ	781	803	1.65e-2	SMART
IQ	807	829	2.25e2	SMART
Pfam:Myosin_tail_1	844	1925	2.1e-164	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184592

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: 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. This gene is a member of the MYH family and encodes a protein with an IQ domain and a myosin head-like domain. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	C	T	16: 56,507,433 (GRCm39)	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,175,998 (GRCm39)	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,881,653 (GRCm39)		probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Col24a1	A	T	3: 145,019,934 (GRCm39)	I102F	probably benign	Het
Col7a1	C	T	9: 108,802,284 (GRCm39)	R2063C	unknown	Het
Ddo	T	A	10: 40,523,517 (GRCm39)	L169Q	probably damaging	Het
Defb4	G	T	8: 19,251,313 (GRCm39)	C60F	probably damaging	Het
Dock9	A	T	14: 121,862,559 (GRCm39)		probably benign	Het
Dysf	A	T	6: 84,044,428 (GRCm39)		probably benign	Het
Fasn	G	A	11: 120,699,892 (GRCm39)	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,551,232 (GRCm39)	D355G	probably benign	Het
Gak	C	T	5: 108,732,098 (GRCm39)	E797K	probably null	Het
Gm10654	T	C	8: 71,384,774 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,183,729 (GRCm39)		probably benign	Het
H2bc11	T	A	13: 22,227,533 (GRCm39)	V45E	possibly damaging	Het
Hdac3	A	G	18: 38,087,944 (GRCm39)	F8S	probably damaging	Het
Hrh4	T	C	18: 13,140,301 (GRCm39)		probably null	Het
Klhl1	A	G	14: 96,389,396 (GRCm39)	V586A	possibly damaging	Het
Lct	T	C	1: 128,222,003 (GRCm39)	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,338,566 (GRCm39)	N128K	probably benign	Het
Mndal	T	C	1: 173,700,486 (GRCm39)	T162A	probably benign	Het
Mylpf	A	G	7: 126,813,315 (GRCm39)	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,067,260 (GRCm39)	A767T	probably benign	Het
Or10j3b	T	C	1: 173,044,088 (GRCm39)	V290A	probably damaging	Het
Or52n2	T	A	7: 104,542,161 (GRCm39)	R225W	probably benign	Het
Or5au1	A	G	14: 52,273,464 (GRCm39)	Y35H	probably damaging	Het
Paics	A	G	5: 77,112,451 (GRCm39)	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,702,049 (GRCm39)	Q1296K	probably benign	Het
Rufy1	A	G	11: 50,311,310 (GRCm39)	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,799,305 (GRCm39)	E93V	probably damaging	Het
Slamf1	T	A	1: 171,594,826 (GRCm39)	I11K	possibly damaging	Het
Slc5a5	C	T	8: 71,342,915 (GRCm39)	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,867,514 (GRCm39)	V473D	probably benign	Het
Slit1	A	G	19: 41,709,524 (GRCm39)	V123A	probably benign	Het
Srgap2	A	C	1: 131,452,674 (GRCm39)		probably null	Het
Stk32c	T	C	7: 138,700,606 (GRCm39)	M208V	probably benign	Het
Syt15	T	C	14: 33,943,760 (GRCm39)	V103A	probably benign	Het
Tacc2	T	A	7: 130,360,997 (GRCm39)	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,554,998 (GRCm39)		probably benign	Het
Tepsin	G	T	11: 119,987,731 (GRCm39)	D62E	probably benign	Het
Thap3	T	C	4: 152,068,144 (GRCm39)	D106G	probably benign	Het
Ttn	T	C	2: 76,616,561 (GRCm39)	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,946,585 (GRCm39)	N39S	possibly damaging	Het
Ubxn11	A	G	4: 133,852,254 (GRCm39)	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,200,046 (GRCm39)	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,503,482 (GRCm39)	T22A	probably damaging	Het
Ypel1	T	C	16: 16,927,515 (GRCm39)	K26E	possibly damaging	Het

Other mutations in Myh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myh3	APN	11	66,981,681 (GRCm39)	missense	probably damaging	1.00
IGL01989:Myh3	APN	11	66,977,481 (GRCm39)	missense	probably damaging	1.00
IGL02097:Myh3	APN	11	66,973,750 (GRCm39)	missense	probably benign
IGL02197:Myh3	APN	11	66,989,409 (GRCm39)	missense	probably benign	0.05
IGL02458:Myh3	APN	11	66,987,766 (GRCm39)	missense	possibly damaging	0.87
IGL02526:Myh3	APN	11	66,978,371 (GRCm39)	missense	probably benign	0.01
IGL02600:Myh3	APN	11	66,974,227 (GRCm39)	missense	probably damaging	1.00
IGL02866:Myh3	APN	11	66,979,849 (GRCm39)	missense	probably benign	0.08
IGL02943:Myh3	APN	11	66,981,891 (GRCm39)	missense	probably benign	0.02
IGL03087:Myh3	APN	11	66,981,798 (GRCm39)	missense	probably damaging	1.00
IGL03131:Myh3	APN	11	66,981,935 (GRCm39)	splice site	probably benign
bud	UTSW	11	66,986,833 (GRCm39)	critical splice acceptor site	probably null
R0049:Myh3	UTSW	11	66,990,498 (GRCm39)	missense	probably damaging	1.00
R0157:Myh3	UTSW	11	66,973,735 (GRCm39)	missense	probably benign	0.00
R0266:Myh3	UTSW	11	66,984,498 (GRCm39)	missense	possibly damaging	0.73
R0352:Myh3	UTSW	11	66,981,254 (GRCm39)	missense	possibly damaging	0.79
R0391:Myh3	UTSW	11	66,987,333 (GRCm39)	splice site	probably benign
R0926:Myh3	UTSW	11	66,981,340 (GRCm39)	splice site	probably null
R1243:Myh3	UTSW	11	66,981,279 (GRCm39)	missense	possibly damaging	0.80
R1344:Myh3	UTSW	11	66,983,158 (GRCm39)	missense	probably benign	0.03
R1414:Myh3	UTSW	11	66,989,491 (GRCm39)	missense	probably damaging	0.98
R1442:Myh3	UTSW	11	66,978,103 (GRCm39)	missense	possibly damaging	0.77
R1470:Myh3	UTSW	11	66,988,885 (GRCm39)	splice site	probably benign
R1480:Myh3	UTSW	11	66,984,371 (GRCm39)	missense	possibly damaging	0.88
R1598:Myh3	UTSW	11	66,983,997 (GRCm39)	missense	probably damaging	1.00
R1620:Myh3	UTSW	11	66,979,562 (GRCm39)	splice site	probably benign
R1682:Myh3	UTSW	11	66,979,891 (GRCm39)	missense	probably damaging	1.00
R1759:Myh3	UTSW	11	66,987,717 (GRCm39)	missense	probably damaging	0.98
R1772:Myh3	UTSW	11	66,990,220 (GRCm39)	missense	probably benign	0.32
R1868:Myh3	UTSW	11	66,975,852 (GRCm39)	missense	probably benign	0.34
R1874:Myh3	UTSW	11	66,984,005 (GRCm39)	missense	probably benign	0.03
R1885:Myh3	UTSW	11	66,977,453 (GRCm39)	missense	probably benign	0.23
R1923:Myh3	UTSW	11	66,970,828 (GRCm39)	missense	probably benign	0.00
R2145:Myh3	UTSW	11	66,981,882 (GRCm39)	missense	probably benign
R3973:Myh3	UTSW	11	66,987,262 (GRCm39)	nonsense	probably null
R4410:Myh3	UTSW	11	66,975,858 (GRCm39)	missense	possibly damaging	0.71
R4583:Myh3	UTSW	11	66,987,279 (GRCm39)	nonsense	probably null
R4650:Myh3	UTSW	11	66,977,270 (GRCm39)	missense	probably damaging	1.00
R4822:Myh3	UTSW	11	66,979,836 (GRCm39)	missense	probably benign
R4836:Myh3	UTSW	11	66,987,765 (GRCm39)	missense	probably benign	0.01
R4898:Myh3	UTSW	11	66,990,233 (GRCm39)	missense	probably benign	0.05
R4946:Myh3	UTSW	11	66,984,364 (GRCm39)	missense	probably benign
R5506:Myh3	UTSW	11	66,974,915 (GRCm39)	missense	probably damaging	1.00
R5534:Myh3	UTSW	11	66,987,870 (GRCm39)	missense	probably damaging	1.00
R5733:Myh3	UTSW	11	66,979,445 (GRCm39)	missense	probably benign	0.24
R5889:Myh3	UTSW	11	66,977,201 (GRCm39)	missense	probably damaging	1.00
R6056:Myh3	UTSW	11	66,978,371 (GRCm39)	missense	probably benign	0.01
R6223:Myh3	UTSW	11	66,988,843 (GRCm39)	missense	probably benign
R6228:Myh3	UTSW	11	66,978,312 (GRCm39)	missense	probably benign	0.17
R6341:Myh3	UTSW	11	66,973,822 (GRCm39)	missense	probably benign	0.00
R6434:Myh3	UTSW	11	66,973,193 (GRCm39)	missense	probably damaging	1.00
R6533:Myh3	UTSW	11	66,981,245 (GRCm39)	missense	probably damaging	0.96
R6812:Myh3	UTSW	11	66,977,228 (GRCm39)	missense	probably damaging	0.99
R7336:Myh3	UTSW	11	66,981,847 (GRCm39)	missense	probably benign	0.13
R7354:Myh3	UTSW	11	66,987,708 (GRCm39)	missense	probably damaging	1.00
R7498:Myh3	UTSW	11	66,987,874 (GRCm39)	missense	possibly damaging	0.96
R7532:Myh3	UTSW	11	66,981,921 (GRCm39)	missense	probably benign
R7841:Myh3	UTSW	11	66,989,518 (GRCm39)	missense	probably damaging	1.00
R7878:Myh3	UTSW	11	66,978,077 (GRCm39)	missense	probably damaging	1.00
R8169:Myh3	UTSW	11	66,979,856 (GRCm39)	missense	probably benign	0.06
R8194:Myh3	UTSW	11	66,982,828 (GRCm39)	missense	probably damaging	1.00
R8215:Myh3	UTSW	11	66,992,005 (GRCm39)	missense	probably damaging	0.99
R8240:Myh3	UTSW	11	66,983,196 (GRCm39)	missense	probably benign	0.01
R8255:Myh3	UTSW	11	66,985,848 (GRCm39)	missense	probably damaging	1.00
R8310:Myh3	UTSW	11	66,986,833 (GRCm39)	critical splice acceptor site	probably null
R9103:Myh3	UTSW	11	66,989,451 (GRCm39)	missense	probably benign	0.01
R9249:Myh3	UTSW	11	66,975,855 (GRCm39)	missense	probably benign	0.12
R9307:Myh3	UTSW	11	66,984,397 (GRCm39)	missense	possibly damaging	0.57
R9430:Myh3	UTSW	11	66,982,726 (GRCm39)	missense	possibly damaging	0.94
R9529:Myh3	UTSW	11	66,979,556 (GRCm39)	critical splice donor site	probably null
R9558:Myh3	UTSW	11	66,983,316 (GRCm39)	missense	possibly damaging	0.89
R9565:Myh3	UTSW	11	66,983,187 (GRCm39)	nonsense	probably null
R9691:Myh3	UTSW	11	66,991,921 (GRCm39)	missense	possibly damaging	0.94
R9790:Myh3	UTSW	11	66,992,005 (GRCm39)	missense	probably damaging	0.99
R9791:Myh3	UTSW	11	66,992,005 (GRCm39)	missense	probably damaging	0.99
RF009:Myh3	UTSW	11	66,977,183 (GRCm39)	frame shift	probably null
RF009:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
RF009:Myh3	UTSW	11	66,977,181 (GRCm39)	frame shift	probably null
RF010:Myh3	UTSW	11	66,977,185 (GRCm39)	frame shift	probably null
RF010:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
RF013:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
RF015:Myh3	UTSW	11	66,977,182 (GRCm39)	frame shift	probably null
X0060:Myh3	UTSW	11	66,985,824 (GRCm39)	missense	probably benign	0.00
X0062:Myh3	UTSW	11	66,979,942 (GRCm39)	missense	probably benign	0.03
Z1176:Myh3	UTSW	11	66,973,241 (GRCm39)	missense	possibly damaging	0.86

Posted On

2015-04-16