Incidental Mutation 'IGL01145:Omt2a'
ID52010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Omt2a
Ensembl Gene ENSMUSG00000066463
Gene Nameoocyte maturation, alpha
SynonymsOM2a
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.132) question?
Stock #IGL01145
Quality Score
Status
Chromosome9
Chromosomal Location78311972-78314796 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78312956 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 64 (M64V)
Ref Sequence ENSEMBL: ENSMUSP00000126342 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000085308] [ENSMUST00000113376] [ENSMUST00000166056]
Predicted Effect probably benign
Transcript: ENSMUST00000085308
AA Change: M64V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000082416
Gene: ENSMUSG00000066463
AA Change: M64V

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000113376
AA Change: M54V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000109003
Gene: ENSMUSG00000066463
AA Change: M54V

DomainStartEndE-ValueType
transmembrane domain 40 62 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000166056
AA Change: M64V

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000126342
Gene: ENSMUSG00000066463
AA Change: M64V

DomainStartEndE-ValueType
transmembrane domain 50 72 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000173321
AA Change: M2V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173608
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A C 7: 79,099,282 D1267A probably damaging Het
AI314180 A C 4: 58,811,501 D1467E probably null Het
Ankrd44 A G 1: 54,762,259 probably null Het
Arap3 T C 18: 37,989,179 M619V probably benign Het
C8b A T 4: 104,780,580 Y83F probably benign Het
Capn15 A G 17: 25,963,050 V595A probably damaging Het
Cbx1 A T 11: 96,801,566 D93V probably benign Het
Cyp2c66 G T 19: 39,170,961 E285D probably benign Het
Dkk4 T A 8: 22,625,386 V84D probably damaging Het
Dnah17 T A 11: 118,047,173 I3343F possibly damaging Het
Dus3l T C 17: 56,767,627 probably benign Het
Eif6 A G 2: 155,826,435 probably benign Het
Eya3 A G 4: 132,709,995 I389V probably damaging Het
Gm5868 A T 5: 72,586,204 probably null Het
Gm5916 A T 9: 36,120,702 D95E unknown Het
Gucy2d T A 7: 98,449,963 S329T probably benign Het
Hook3 C T 8: 26,059,344 M157I probably benign Het
Iapp C A 6: 142,303,364 R48S probably damaging Het
Ints11 A G 4: 155,885,126 Y153C probably damaging Het
Layn G A 9: 51,074,046 T62I probably benign Het
Llgl2 A G 11: 115,853,805 H876R probably benign Het
Lrp4 T C 2: 91,487,051 I840T probably damaging Het
Myo9a T A 9: 59,855,375 F796L probably benign Het
Naip1 A G 13: 100,409,121 S1300P probably benign Het
Nfat5 T A 8: 107,367,215 I602N probably damaging Het
Pcnx T C 12: 81,992,035 S2025P probably damaging Het
Pemt A G 11: 59,983,467 L62P probably damaging Het
Polrmt A G 10: 79,741,137 V399A probably benign Het
Rasgrp4 T C 7: 29,151,473 S77P possibly damaging Het
Rrm2b G A 15: 37,944,560 P111L probably damaging Het
Thap12 A G 7: 98,712,903 *121W probably null Het
Tnik A G 3: 28,604,167 probably benign Het
Trio G A 15: 27,818,167 probably benign Het
Zfhx4 A G 3: 5,245,347 E930G probably damaging Het
Zfp335 G T 2: 164,907,502 T299K probably benign Het
Other mutations in Omt2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:Omt2a APN 9 78313339 missense possibly damaging 0.94
R0532:Omt2a UTSW 9 78312905 missense possibly damaging 0.81
R4706:Omt2a UTSW 9 78313070 missense probably benign 0.05
R4960:Omt2a UTSW 9 78313023 missense possibly damaging 0.46
Posted On2013-06-21