Incidental Mutation 'IGL02325:Omt2b'
ID 288420
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Omt2b
Ensembl Gene ENSMUSG00000038750
Gene Name oocyte maturation, beta
Synonyms OM2b
Accession Numbers
Essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL02325
Quality Score
Status
Chromosome 9
Chromosomal Location 78235312-78236902 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 78235854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 60 (T60S)
Ref Sequence ENSEMBL: ENSMUSP00000139767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034902] [ENSMUST00000043734] [ENSMUST00000125479] [ENSMUST00000129247] [ENSMUST00000186336] [ENSMUST00000187667]
AlphaFold D3YX29
Predicted Effect probably benign
Transcript: ENSMUST00000034902
SMART Domains Protein: ENSMUSP00000034902
Gene: ENSMUSG00000057933

DomainStartEndE-ValueType
Pfam:GST_N 5 77 5.1e-23 PFAM
Pfam:GST_C 99 192 8.9e-21 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000043734
AA Change: T60S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000036132
Gene: ENSMUSG00000038750
AA Change: T60S

DomainStartEndE-ValueType
transmembrane domain 69 91 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125479
SMART Domains Protein: ENSMUSP00000115517
Gene: ENSMUSG00000057933

DomainStartEndE-ValueType
Pfam:GST_N 5 77 1.1e-21 PFAM
Pfam:GST_C 78 182 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000129247
SMART Domains Protein: ENSMUSP00000117101
Gene: ENSMUSG00000057933

DomainStartEndE-ValueType
Pfam:GST_N 5 77 1.1e-21 PFAM
Pfam:GST_C 78 179 1.2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186336
Predicted Effect possibly damaging
Transcript: ENSMUST00000187667
AA Change: T60S

PolyPhen 2 Score 0.659 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000139767
Gene: ENSMUSG00000038750
AA Change: T60S

DomainStartEndE-ValueType
transmembrane domain 69 91 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187890
Predicted Effect unknown
Transcript: ENSMUST00000189243
AA Change: T45S
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acads A T 5: 115,250,013 (GRCm39) I233N probably damaging Het
Agtpbp1 C T 13: 59,648,303 (GRCm39) G393S probably benign Het
Ahctf1 T C 1: 179,603,580 (GRCm39) D822G probably benign Het
Alpk1 T C 3: 127,473,552 (GRCm39) N817S probably benign Het
Aoah G A 13: 21,101,295 (GRCm39) E272K probably damaging Het
Aoc1 A G 6: 48,882,829 (GRCm39) D235G possibly damaging Het
Ccdc186 G T 19: 56,801,788 (GRCm39) Q110K probably benign Het
Celsr2 G T 3: 108,320,187 (GRCm39) T875K probably damaging Het
Chdh T C 14: 29,754,782 (GRCm39) V264A probably benign Het
Col15a1 A G 4: 47,289,364 (GRCm39) T854A probably damaging Het
Cuedc1 A T 11: 88,060,999 (GRCm39) E114V probably null Het
Ddx23 A T 15: 98,545,074 (GRCm39) D677E possibly damaging Het
Ddx24 A G 12: 103,382,525 (GRCm39) V640A probably damaging Het
Ddx25 T C 9: 35,465,804 (GRCm39) probably benign Het
Ddx43 T C 9: 78,309,772 (GRCm39) probably benign Het
Diaph1 T C 18: 37,986,653 (GRCm39) K1111E probably damaging Het
Dnah9 T C 11: 65,725,043 (GRCm39) D4370G probably damaging Het
Eef1e1 A T 13: 38,840,012 (GRCm39) probably benign Het
Egfem1 T C 3: 29,206,066 (GRCm39) I101T probably benign Het
Gpr142 G T 11: 114,696,947 (GRCm39) L164F probably damaging Het
Gtf2h5 T A 17: 6,131,106 (GRCm39) probably null Het
Hap1 T A 11: 100,245,190 (GRCm39) probably null Het
Hemgn T G 4: 46,396,085 (GRCm39) I384L probably benign Het
Ints3 A T 3: 90,311,349 (GRCm39) H419Q probably damaging Het
Itgb2 T C 10: 77,383,026 (GRCm39) L132P probably damaging Het
Krtap29-1 C T 11: 99,869,159 (GRCm39) V241M probably damaging Het
Lrguk A G 6: 34,106,114 (GRCm39) E713G probably benign Het
Lrrk2 G T 15: 91,610,511 (GRCm39) probably null Het
Nlrp14 A G 7: 106,781,523 (GRCm39) D240G possibly damaging Het
Or10ag52 G T 2: 87,043,850 (GRCm39) G205W probably damaging Het
Pcdhb2 A G 18: 37,429,733 (GRCm39) N569D possibly damaging Het
Plcd3 G A 11: 102,971,447 (GRCm39) R66* probably null Het
Polr1a G A 6: 71,897,641 (GRCm39) R212Q probably benign Het
Pou3f2 A T 4: 22,487,020 (GRCm39) L371Q probably damaging Het
Rnf207 A T 4: 152,396,237 (GRCm39) I509N probably damaging Het
Sema5a T G 15: 32,686,977 (GRCm39) S1030A possibly damaging Het
Shank1 C A 7: 43,976,504 (GRCm39) S534* probably null Het
Sntg2 T C 12: 30,245,542 (GRCm39) T495A probably benign Het
Spem2 A T 11: 69,707,789 (GRCm39) V392D probably benign Het
Srrm2 T A 17: 24,029,453 (GRCm39) probably benign Het
Tbc1d8 A T 1: 39,433,321 (GRCm39) F287Y probably damaging Het
Tgfbi A G 13: 56,779,043 (GRCm39) D422G probably benign Het
Tppp G A 13: 74,169,295 (GRCm39) A12T probably benign Het
Usp46 C T 5: 74,197,689 (GRCm39) probably null Het
Zdhhc12 C T 2: 29,981,448 (GRCm39) V205I probably damaging Het
Other mutations in Omt2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0497:Omt2b UTSW 9 78,235,513 (GRCm39) unclassified probably benign
R0789:Omt2b UTSW 9 78,235,447 (GRCm39) unclassified probably benign
R1526:Omt2b UTSW 9 78,235,420 (GRCm39) unclassified probably benign
R2191:Omt2b UTSW 9 78,235,457 (GRCm39) unclassified probably benign
R2192:Omt2b UTSW 9 78,235,457 (GRCm39) unclassified probably benign
R4568:Omt2b UTSW 9 78,235,529 (GRCm39) unclassified probably benign
R5884:Omt2b UTSW 9 78,235,839 (GRCm39) missense probably benign 0.00
R6287:Omt2b UTSW 9 78,235,543 (GRCm39) missense possibly damaging 0.92
R7409:Omt2b UTSW 9 78,235,894 (GRCm39) missense probably benign 0.03
R9077:Omt2b UTSW 9 78,235,548 (GRCm39) critical splice donor site probably null
Z1176:Omt2b UTSW 9 78,236,612 (GRCm39) missense probably damaging 0.97
Posted On 2015-04-16