Incidental Mutation 'IGL01145:Omt2a'
ID 52010
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Omt2a
Ensembl Gene ENSMUSG00000066463
Gene Name oocyte maturation, alpha
Synonyms OM2a
Accession Numbers
Essential gene? Probably non essential (E-score: 0.132) question?
Stock # IGL01145
Quality Score
Status
Chromosome 9
Chromosomal Location 78219254-78222078 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78220238 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold G5E8X8
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: 78,749,030 (GRCm39) D1267A probably damaging Het
Ankrd44 A G 1: 54,801,418 (GRCm39) probably null Het
Arap3 T C 18: 38,122,232 (GRCm39) M619V probably benign Het
C8b A T 4: 104,637,777 (GRCm39) Y83F probably benign Het
Capn15 A G 17: 26,182,024 (GRCm39) V595A probably damaging Het
Cbx1 A T 11: 96,692,392 (GRCm39) D93V probably benign Het
Cyp2c66 G T 19: 39,159,405 (GRCm39) E285D probably benign Het
Dkk4 T A 8: 23,115,402 (GRCm39) V84D probably damaging Het
Dnah17 T A 11: 117,937,999 (GRCm39) I3343F possibly damaging Het
Dus3l T C 17: 57,074,627 (GRCm39) probably benign Het
Ecpas A C 4: 58,811,501 (GRCm39) D1467E probably null Het
Eif6 A G 2: 155,668,355 (GRCm39) probably benign Het
Eya3 A G 4: 132,437,306 (GRCm39) I389V probably damaging Het
Gm5916 A T 9: 36,031,998 (GRCm39) D95E unknown Het
Gucy2d T A 7: 98,099,170 (GRCm39) S329T probably benign Het
Hook3 C T 8: 26,549,372 (GRCm39) M157I probably benign Het
Iapp C A 6: 142,249,090 (GRCm39) R48S probably damaging Het
Ints11 A G 4: 155,969,583 (GRCm39) Y153C probably damaging Het
Layn G A 9: 50,985,346 (GRCm39) T62I probably benign Het
Llgl2 A G 11: 115,744,631 (GRCm39) H876R probably benign Het
Lrp4 T C 2: 91,317,396 (GRCm39) I840T probably damaging Het
Myo9a T A 9: 59,762,658 (GRCm39) F796L probably benign Het
Naip1 A G 13: 100,545,629 (GRCm39) S1300P probably benign Het
Nfat5 T A 8: 108,093,847 (GRCm39) I602N probably damaging Het
Pcnx1 T C 12: 82,038,809 (GRCm39) S2025P probably damaging Het
Pemt A G 11: 59,874,293 (GRCm39) L62P probably damaging Het
Polrmt A G 10: 79,576,971 (GRCm39) V399A probably benign Het
Rasgrp4 T C 7: 28,850,898 (GRCm39) S77P possibly damaging Het
Rrm2b G A 15: 37,944,804 (GRCm39) P111L probably damaging Het
Slc10a4-ps A T 5: 72,743,547 (GRCm39) probably null Het
Thap12 A G 7: 98,362,110 (GRCm39) *121W probably null Het
Tnik A G 3: 28,658,316 (GRCm39) probably benign Het
Trio G A 15: 27,818,253 (GRCm39) probably benign Het
Zfhx4 A G 3: 5,310,407 (GRCm39) E930G probably damaging Het
Zfp335 G T 2: 164,749,422 (GRCm39) T299K probably benign Het
Other mutations in Omt2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02292:Omt2a APN 9 78,220,621 (GRCm39) missense possibly damaging 0.94
R0532:Omt2a UTSW 9 78,220,187 (GRCm39) missense possibly damaging 0.81
R4706:Omt2a UTSW 9 78,220,352 (GRCm39) missense probably benign 0.05
R4960:Omt2a UTSW 9 78,220,305 (GRCm39) missense possibly damaging 0.46
Posted On 2013-06-21