Incidental Mutation 'IGL01490:Myom3'
ID88815
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Myom3
Ensembl Gene ENSMUSG00000037139
Gene Namemyomesin family, member 3
Synonyms8430427K15Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.184) question?
Stock #IGL01490
Quality Score
Status
Chromosome4
Chromosomal Location135759715-135815564 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 135810778 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 1324 (R1324G)
Ref Sequence ENSEMBL: ENSMUSP00000101480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105854]
Predicted Effect possibly damaging
Transcript: ENSMUST00000105854
AA Change: R1324G

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000101480
Gene: ENSMUSG00000037139
AA Change: R1324G

DomainStartEndE-ValueType
low complexity region 22 38 N/A INTRINSIC
low complexity region 53 83 N/A INTRINSIC
coiled coil region 119 150 N/A INTRINSIC
IG 160 248 7.64e-9 SMART
IG 277 364 1.37e-1 SMART
FN3 374 457 4.8e-13 SMART
FN3 502 585 9.99e-11 SMART
FN3 603 684 1.74e-10 SMART
FN3 702 785 2.5e-11 SMART
FN3 804 887 7.73e-17 SMART
Blast:IG_like 904 1098 1e-100 BLAST
PDB:2JTD|A 1000 1105 4e-25 PDB
low complexity region 1107 1119 N/A INTRINSIC
IG 1127 1209 4.46e-1 SMART
IGc2 1349 1416 1.4e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145304
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700125H20Rik A G 11: 85,178,312 D52G probably damaging Het
Abca2 A G 2: 25,446,011 Y2131C probably damaging Het
Ano6 T A 15: 95,948,410 S510T probably benign Het
Asb16 A T 11: 102,276,749 N314Y probably damaging Het
Atp6v0b G A 4: 117,885,106 Q150* probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Crim1 A G 17: 78,335,296 D481G possibly damaging Het
Dnajb2 T C 1: 75,236,890 S3P probably damaging Het
Dnajb9 A T 12: 44,207,086 S179R possibly damaging Het
Dock2 A T 11: 34,705,781 I416N probably damaging Het
Dock7 G T 4: 98,945,118 probably benign Het
Eif6 T C 2: 155,826,182 I46V probably benign Het
Fcgr1 T C 3: 96,284,370 D374G probably benign Het
Gatad2b A G 3: 90,352,078 I374V possibly damaging Het
Gfpt2 T C 11: 49,827,127 probably benign Het
Gpr1 T C 1: 63,183,296 Y260C probably damaging Het
H2-M10.2 G T 17: 36,285,485 T156K probably damaging Het
Il20rb T A 9: 100,473,154 I79F probably damaging Het
Kcnip3 C T 2: 127,510,879 R44H probably benign Het
Lama1 A T 17: 67,750,584 D551V possibly damaging Het
Mex3b C A 7: 82,869,827 P450Q possibly damaging Het
Mmp20 T C 9: 7,628,329 L26P probably benign Het
Msh3 G A 13: 92,300,305 T499M probably damaging Het
Myo18b T C 5: 112,809,700 S1466G possibly damaging Het
Nxph3 A G 11: 95,511,093 I165T possibly damaging Het
Prex2 G A 1: 11,184,545 probably null Het
Ptpn6 T A 6: 124,728,344 E208V probably damaging Het
Qpct T C 17: 79,089,740 V354A probably benign Het
Rfx4 A G 10: 84,840,851 I108V possibly damaging Het
Tmem67 A G 4: 12,057,422 probably benign Het
Trappc12 A T 12: 28,746,915 I206N probably damaging Het
Vmn1r173 A T 7: 23,702,707 K122N probably benign Het
Wdr35 G T 12: 8,977,381 G54V probably damaging Het
Zfyve26 A T 12: 79,244,373 C2153S probably damaging Het
Other mutations in Myom3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00543:Myom3 APN 4 135762571 missense possibly damaging 0.66
IGL01931:Myom3 APN 4 135789639 missense probably benign 0.05
IGL01935:Myom3 APN 4 135788381 missense probably damaging 1.00
IGL01939:Myom3 APN 4 135765589 missense possibly damaging 0.95
IGL01981:Myom3 APN 4 135785849 nonsense probably null
IGL01985:Myom3 APN 4 135765702 critical splice donor site probably null
IGL02043:Myom3 APN 4 135770675 missense probably damaging 1.00
IGL02477:Myom3 APN 4 135779368 missense probably benign 0.22
IGL02733:Myom3 APN 4 135814303 nonsense probably null
IGL03253:Myom3 APN 4 135783097 missense possibly damaging 0.85
R0359:Myom3 UTSW 4 135778143 missense probably damaging 1.00
R0525:Myom3 UTSW 4 135764926 missense possibly damaging 0.69
R0665:Myom3 UTSW 4 135764926 missense possibly damaging 0.69
R0668:Myom3 UTSW 4 135764926 missense possibly damaging 0.69
R0690:Myom3 UTSW 4 135788426 splice site probably benign
R1235:Myom3 UTSW 4 135789543 missense probably benign 0.09
R1692:Myom3 UTSW 4 135775551 missense probably benign 0.00
R1793:Myom3 UTSW 4 135810755 missense probably benign 0.42
R1859:Myom3 UTSW 4 135779396 missense probably benign 0.01
R1863:Myom3 UTSW 4 135778037 missense probably benign
R1876:Myom3 UTSW 4 135779400 missense probably benign 0.01
R2103:Myom3 UTSW 4 135776412 missense probably benign 0.05
R2152:Myom3 UTSW 4 135803233 missense probably benign 0.05
R4633:Myom3 UTSW 4 135775699 missense probably benign 0.00
R4726:Myom3 UTSW 4 135807275 splice site probably null
R4884:Myom3 UTSW 4 135783055 missense possibly damaging 0.90
R4943:Myom3 UTSW 4 135814274 missense possibly damaging 0.73
R5040:Myom3 UTSW 4 135789659 missense probably damaging 1.00
R5151:Myom3 UTSW 4 135789572 missense probably benign 0.01
R5158:Myom3 UTSW 4 135765586 missense probably damaging 0.99
R5169:Myom3 UTSW 4 135775578 missense probably benign 0.01
R5239:Myom3 UTSW 4 135800992 splice site probably benign
R6130:Myom3 UTSW 4 135762571 missense probably benign
R6253:Myom3 UTSW 4 135785892 missense probably benign 0.07
R6253:Myom3 UTSW 4 135801003 missense probably benign 0.00
R6331:Myom3 UTSW 4 135776377 missense possibly damaging 0.46
R6346:Myom3 UTSW 4 135806051 missense probably benign 0.00
R6502:Myom3 UTSW 4 135762513 start gained probably benign
R6613:Myom3 UTSW 4 135812459 missense possibly damaging 0.80
R6899:Myom3 UTSW 4 135803292 missense probably damaging 1.00
R6969:Myom3 UTSW 4 135801060 missense probably damaging 0.98
Posted On2013-11-18