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: 0.502) question?

Stock #

IGL02559

Quality Score

Status

Chromosome

Chromosomal Location

67078300-67102291 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67101095 bp (GRCm38)

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: 56,687,070	Q1004*	probably null	Het
Bahcc1	A	G	11: 120,285,172	D1914G	probably damaging	Het
Bcl11b	A	T	12: 107,915,394		probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Col24a1	A	T	3: 145,314,173	I102F	probably benign	Het
Col7a1	C	T	9: 108,973,216	R2063C	unknown	Het
Ddo	T	A	10: 40,647,521	L169Q	probably damaging	Het
Defb4	G	T	8: 19,201,297	C60F	probably damaging	Het
Dock9	A	T	14: 121,625,147		probably benign	Het
Dysf	A	T	6: 84,067,446		probably benign	Het
Fasn	G	A	11: 120,809,066	A2253V	possibly damaging	Het
Fbxw26	T	C	9: 109,722,164	D355G	probably benign	Het
Gak	C	T	5: 108,584,232	E797K	probably null	Het
Gm10654	T	C	8: 70,932,130		noncoding transcript	Het
Gnas	T	C	2: 174,341,936		probably benign	Het
Hdac3	A	G	18: 37,954,891	F8S	probably damaging	Het
Hist1h2bj	T	A	13: 22,043,363	V45E	possibly damaging	Het
Hrh4	T	C	18: 13,007,244		probably null	Het
Klhl1	A	G	14: 96,151,960	V586A	possibly damaging	Het
Lct	T	C	1: 128,294,266	N1512S	probably damaging	Het
Mmp28	G	T	11: 83,447,740	N128K	probably benign	Het
Mndal	T	C	1: 173,872,920	T162A	probably benign	Het
Mylpf	A	G	7: 127,214,143	Y133C	probably damaging	Het
Nup210l	G	A	3: 90,159,953	A767T	probably benign	Het
Olfr1404	T	C	1: 173,216,521	V290A	probably damaging	Het
Olfr221	A	G	14: 52,036,007	Y35H	probably damaging	Het
Olfr666	T	A	7: 104,892,954	R225W	probably benign	Het
Paics	A	G	5: 76,964,604	I312V	possibly damaging	Het
Pkdrej	G	T	15: 85,817,848	Q1296K	probably benign	Het
Ppil2	T	C	16: 17,109,651	K26E	possibly damaging	Het
Rufy1	A	G	11: 50,420,483	F170L	probably damaging	Het
Shcbp1	T	A	8: 4,749,305	E93V	probably damaging	Het
Slamf1	T	A	1: 171,767,258	I11K	possibly damaging	Het
Slc5a5	C	T	8: 70,890,271	G215D	probably damaging	Het
Slco1a1	A	T	6: 141,921,788	V473D	probably benign	Het
Slit1	A	G	19: 41,721,085	V123A	probably benign	Het
Srgap2	A	C	1: 131,524,936		probably null	Het
Stk32c	T	C	7: 139,120,690	M208V	probably benign	Het
Syt15	T	C	14: 34,221,803	V103A	probably benign	Het
Tacc2	T	A	7: 130,759,267	L456Q	probably damaging	Het
Tanc1	A	G	2: 59,724,654		probably benign	Het
Tepsin	G	T	11: 120,096,905	D62E	probably benign	Het
Thap3	T	C	4: 151,983,687	D106G	probably benign	Het
Ttn	T	C	2: 76,786,217	D14818G	probably damaging	Het
Txndc2	T	C	17: 65,639,590	N39S	possibly damaging	Het
Ubxn11	A	G	4: 134,124,943	E200G	probably damaging	Het
Vmn2r11	T	G	5: 109,052,180	Q469P	probably damaging	Het
Yipf2	T	C	9: 21,592,186	T22A	probably damaging	Het

Other mutations in Myh3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00850:Myh3	APN	11	67090855	missense	probably damaging	1.00
IGL01989:Myh3	APN	11	67086655	missense	probably damaging	1.00
IGL02097:Myh3	APN	11	67082924	missense	probably benign
IGL02197:Myh3	APN	11	67098583	missense	probably benign	0.05
IGL02458:Myh3	APN	11	67096940	missense	possibly damaging	0.87
IGL02526:Myh3	APN	11	67087545	missense	probably benign	0.01
IGL02600:Myh3	APN	11	67083401	missense	probably damaging	1.00
IGL02866:Myh3	APN	11	67089023	missense	probably benign	0.08
IGL02943:Myh3	APN	11	67091065	missense	probably benign	0.02
IGL03087:Myh3	APN	11	67090972	missense	probably damaging	1.00
IGL03131:Myh3	APN	11	67091109	splice site	probably benign
bud	UTSW	11	67096007	critical splice acceptor site	probably null
R0049:Myh3	UTSW	11	67099672	missense	probably damaging	1.00
R0157:Myh3	UTSW	11	67082909	missense	probably benign	0.00
R0266:Myh3	UTSW	11	67093672	missense	possibly damaging	0.73
R0352:Myh3	UTSW	11	67090428	missense	possibly damaging	0.79
R0391:Myh3	UTSW	11	67096507	splice site	probably benign
R0926:Myh3	UTSW	11	67090514	splice site	probably null
R1243:Myh3	UTSW	11	67090453	missense	possibly damaging	0.80
R1344:Myh3	UTSW	11	67092332	missense	probably benign	0.03
R1414:Myh3	UTSW	11	67098665	missense	probably damaging	0.98
R1442:Myh3	UTSW	11	67087277	missense	possibly damaging	0.77
R1470:Myh3	UTSW	11	67098059	splice site	probably benign
R1480:Myh3	UTSW	11	67093545	missense	possibly damaging	0.88
R1598:Myh3	UTSW	11	67093171	missense	probably damaging	1.00
R1620:Myh3	UTSW	11	67088736	splice site	probably benign
R1682:Myh3	UTSW	11	67089065	missense	probably damaging	1.00
R1759:Myh3	UTSW	11	67096891	missense	probably damaging	0.98
R1772:Myh3	UTSW	11	67099394	missense	probably benign	0.32
R1868:Myh3	UTSW	11	67085026	missense	probably benign	0.34
R1874:Myh3	UTSW	11	67093179	missense	probably benign	0.03
R1885:Myh3	UTSW	11	67086627	missense	probably benign	0.23
R1923:Myh3	UTSW	11	67080002	missense	probably benign	0.00
R2145:Myh3	UTSW	11	67091056	missense	probably benign
R3973:Myh3	UTSW	11	67096436	nonsense	probably null
R4410:Myh3	UTSW	11	67085032	missense	possibly damaging	0.71
R4583:Myh3	UTSW	11	67096453	nonsense	probably null
R4650:Myh3	UTSW	11	67086444	missense	probably damaging	1.00
R4822:Myh3	UTSW	11	67089010	missense	probably benign
R4836:Myh3	UTSW	11	67096939	missense	probably benign	0.01
R4898:Myh3	UTSW	11	67099407	missense	probably benign	0.05
R4946:Myh3	UTSW	11	67093538	missense	probably benign
R5506:Myh3	UTSW	11	67084089	missense	probably damaging	1.00
R5534:Myh3	UTSW	11	67097044	missense	probably damaging	1.00
R5733:Myh3	UTSW	11	67088619	missense	probably benign	0.24
R5889:Myh3	UTSW	11	67086375	missense	probably damaging	1.00
R6056:Myh3	UTSW	11	67087545	missense	probably benign	0.01
R6223:Myh3	UTSW	11	67098017	missense	probably benign
R6228:Myh3	UTSW	11	67087486	missense	probably benign	0.17
R6341:Myh3	UTSW	11	67082996	missense	probably benign	0.00
R6434:Myh3	UTSW	11	67082367	missense	probably damaging	1.00
R6533:Myh3	UTSW	11	67090419	missense	probably damaging	0.96
R6812:Myh3	UTSW	11	67086402	missense	probably damaging	0.99
R7336:Myh3	UTSW	11	67091021	missense	probably benign	0.13
R7354:Myh3	UTSW	11	67096882	missense	probably damaging	1.00
R7498:Myh3	UTSW	11	67097048	missense	possibly damaging	0.96
R7532:Myh3	UTSW	11	67091095	missense	probably benign
R7841:Myh3	UTSW	11	67098692	missense	probably damaging	1.00
R7878:Myh3	UTSW	11	67087251	missense	probably damaging	1.00
R8169:Myh3	UTSW	11	67089030	missense	probably benign	0.06
R8194:Myh3	UTSW	11	67092002	missense	probably damaging	1.00
R8215:Myh3	UTSW	11	67101179	missense	probably damaging	0.99
R8240:Myh3	UTSW	11	67092370	missense	probably benign	0.01
R8255:Myh3	UTSW	11	67095022	missense	probably damaging	1.00
R8310:Myh3	UTSW	11	67096007	critical splice acceptor site	probably null
R9103:Myh3	UTSW	11	67098625	missense	probably benign	0.01
R9249:Myh3	UTSW	11	67085029	missense	probably benign	0.12
R9307:Myh3	UTSW	11	67093571	missense	possibly damaging	0.57
R9430:Myh3	UTSW	11	67091900	missense	possibly damaging	0.94
R9529:Myh3	UTSW	11	67088730	critical splice donor site	probably null
R9558:Myh3	UTSW	11	67092490	missense	possibly damaging	0.89
R9565:Myh3	UTSW	11	67092361	nonsense	probably null
R9691:Myh3	UTSW	11	67101095	missense	possibly damaging	0.94
R9790:Myh3	UTSW	11	67101179	missense	probably damaging	0.99
R9791:Myh3	UTSW	11	67101179	missense	probably damaging	0.99
RF009:Myh3	UTSW	11	67086355	frame shift	probably null
RF009:Myh3	UTSW	11	67086356	frame shift	probably null
RF009:Myh3	UTSW	11	67086357	frame shift	probably null
RF010:Myh3	UTSW	11	67086356	frame shift	probably null
RF010:Myh3	UTSW	11	67086359	frame shift	probably null
RF013:Myh3	UTSW	11	67086356	frame shift	probably null
RF015:Myh3	UTSW	11	67086356	frame shift	probably null
X0060:Myh3	UTSW	11	67094998	missense	probably benign	0.00
X0062:Myh3	UTSW	11	67089116	missense	probably benign	0.03
Z1176:Myh3	UTSW	11	67082415	missense	possibly damaging	0.86

Posted On

2015-04-16