Incidental Mutation 'IGL02197:Myh3'
ID284101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myh3
Ensembl Gene ENSMUSG00000020908
Gene Namemyosin, heavy polypeptide 3, skeletal muscle, embryonic
SynonymsMyhse, Myhs-e, MyHC-emb
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.422) question?
Stock #IGL02197
Quality Score
Status
Chromosome11
Chromosomal Location67078300-67102291 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 67098583 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 1510 (I1510L)
Ref Sequence ENSEMBL: ENSMUSP00000131883 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007301] [ENSMUST00000108689] [ENSMUST00000165221]
Predicted Effect probably benign
Transcript: ENSMUST00000007301
AA Change: I1510L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000007301
Gene: ENSMUSG00000020908
AA Change: I1510L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000108689
AA Change: I1510L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000104329
Gene: ENSMUSG00000020908
AA Change: I1510L

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000165221
AA Change: I1510L

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000131883
Gene: ENSMUSG00000020908
AA Change: I1510L

DomainStartEndE-ValueType
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,906,735 T445A probably damaging Het
Arhgap21 T C 2: 20,880,306 S526G probably benign Het
Atad2b A T 12: 5,018,056 N1018I possibly damaging Het
Baz1b A G 5: 135,209,097 E209G probably benign Het
Capn11 T A 17: 45,639,856 T264S probably benign Het
Cdh1 A G 8: 106,653,786 E187G probably benign Het
Cps1 A G 1: 67,157,764 I325V probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dmbt1 A G 7: 131,085,422 probably benign Het
Dnaaf3 T C 7: 4,527,497 D203G probably damaging Het
Dscr3 G T 16: 94,501,690 probably benign Het
Eif2ak3 A G 6: 70,901,457 Y1045C probably benign Het
Fam13a T A 6: 58,935,601 D689V possibly damaging Het
Fnip1 T A 11: 54,493,374 L342I probably damaging Het
Frk T A 10: 34,484,334 N110K probably damaging Het
Gm5134 T C 10: 75,954,702 probably null Het
Gm53 T C 11: 96,251,723 noncoding transcript Het
Gm9312 A T 12: 24,252,162 noncoding transcript Het
Gm9936 A G 5: 114,857,091 probably benign Het
Hk3 A G 13: 55,014,468 F108L probably damaging Het
Homer2 A T 7: 81,610,399 S296T probably benign Het
Itga2b T A 11: 102,466,319 H245L probably benign Het
Ky T C 9: 102,537,786 F299S possibly damaging Het
Lama5 A G 2: 180,207,219 Y224H possibly damaging Het
Leng9 G T 7: 4,148,724 L318I probably damaging Het
Lpin1 A G 12: 16,558,407 probably null Het
Lrp2 T C 2: 69,466,880 I3246V probably benign Het
Map2k3 A G 11: 60,946,764 Y230C probably damaging Het
Myef2 T C 2: 125,114,039 probably null Het
Mypn T C 10: 63,123,278 D1088G possibly damaging Het
Nek9 C A 12: 85,307,930 V745L probably null Het
Neu1 T A 17: 34,934,665 V355D possibly damaging Het
Nlrp4a G T 7: 26,449,278 K103N possibly damaging Het
Olfr1212 A G 2: 88,958,684 T73A probably benign Het
Olfr49 T C 14: 54,281,952 *314W probably null Het
Papola A T 12: 105,829,183 N631I possibly damaging Het
Pcnx T C 12: 81,919,104 S682P probably benign Het
Pcnx T C 12: 81,993,151 S2071P possibly damaging Het
Pga5 A G 19: 10,671,913 probably benign Het
Phlda1 T A 10: 111,507,153 M250K probably damaging Het
Phox2b A G 5: 67,096,526 probably benign Het
Pkdrej A G 15: 85,815,793 Y1981H possibly damaging Het
Pold1 G A 7: 44,542,239 P108S probably benign Het
Ptprg T G 14: 12,220,613 F442V probably damaging Het
Rab36 A G 10: 75,052,042 I248M probably damaging Het
Scnn1b G A 7: 121,902,890 R257Q probably null Het
Sdc1 A G 12: 8,790,835 Q200R possibly damaging Het
Slc10a7 A G 8: 78,515,663 T60A probably damaging Het
Snx13 A G 12: 35,106,801 D484G probably damaging Het
Tlr1 G A 5: 64,926,454 T260M probably damaging Het
Tpcn1 A G 5: 120,553,531 V286A probably damaging Het
Traip T G 9: 107,968,737 L343R possibly damaging Het
Unc13b A G 4: 43,165,828 H204R probably damaging Het
Unc80 A G 1: 66,530,065 S960G probably benign Het
V1ra8 C T 6: 90,203,202 P129L probably benign Het
Vps13b T A 15: 35,930,056 F3980I probably benign Het
Vps13d T C 4: 145,128,309 N2248S probably benign Het
Wnk4 T C 11: 101,263,957 L324P probably damaging Het
Other mutations in Myh3
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL02458:Myh3 APN 11 67096940 missense possibly damaging 0.87
IGL02526:Myh3 APN 11 67087545 missense probably benign 0.01
IGL02559:Myh3 APN 11 67101095 missense possibly damaging 0.94
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
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 intron 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
X0060:Myh3 UTSW 11 67094998 missense probably benign 0.00
X0062:Myh3 UTSW 11 67089116 missense probably benign 0.03
Posted On2015-04-16