Incidental Mutation 'IGL00391:Osgin2'
ID 6707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osgin2
Ensembl Gene ENSMUSG00000041153
Gene Name oxidative stress induced growth inhibitor family member 2
Synonyms C230027H09Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.269) question?
Stock # IGL00391
Quality Score
Status
Chromosome 4
Chromosomal Location 15997121-16013888 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 16006439 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 85 (Y85C)
Ref Sequence ENSEMBL: ENSMUSP00000121807 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037198] [ENSMUST00000149891]
AlphaFold Q3TEE9
Predicted Effect probably damaging
Transcript: ENSMUST00000037198
AA Change: Y85C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047473
Gene: ENSMUSG00000041153
AA Change: Y85C

DomainStartEndE-ValueType
SCOP:d1lqta1 315 361 7e-3 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124770
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134048
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148819
Predicted Effect probably damaging
Transcript: ENSMUST00000149891
AA Change: Y85C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34l A T 8: 44,078,666 (GRCm39) F519L probably damaging Het
Adgrl3 G A 5: 81,872,071 (GRCm39) V990M probably damaging Het
Ap4b1 A G 3: 103,728,858 (GRCm39) T499A probably benign Het
Cacna2d4 T C 6: 119,314,894 (GRCm39) probably benign Het
Ccr5 T A 9: 123,924,443 (GRCm39) D15E possibly damaging Het
Clca4b A G 3: 144,621,322 (GRCm39) V584A possibly damaging Het
Cmtr1 T C 17: 29,893,236 (GRCm39) M85T probably damaging Het
Col6a3 T A 1: 90,755,977 (GRCm39) H104L probably damaging Het
Coq9 A T 8: 95,577,145 (GRCm39) K170M probably damaging Het
Elmod1 A G 9: 53,831,682 (GRCm39) probably null Het
Fam47e A C 5: 92,727,522 (GRCm39) E143D probably damaging Het
Faxc A G 4: 21,948,725 (GRCm39) K146E probably damaging Het
Myo7b A C 18: 32,154,609 (GRCm39) probably benign Het
Nmur1 G A 1: 86,314,193 (GRCm39) R381C probably damaging Het
Nsd2 T G 5: 34,013,077 (GRCm39) D469E probably damaging Het
Osbpl6 G A 2: 76,420,783 (GRCm39) C786Y probably damaging Het
Otof A G 5: 30,532,967 (GRCm39) C1587R probably damaging Het
Plaat5 A T 19: 7,596,631 (GRCm39) probably benign Het
Plekha2 A G 8: 25,547,343 (GRCm39) V247A probably damaging Het
Plppr5 A T 3: 117,465,592 (GRCm39) N281I possibly damaging Het
Popdc3 A G 10: 45,193,922 (GRCm39) probably null Het
Ppp1r12a A G 10: 108,034,709 (GRCm39) N85D probably damaging Het
Serpinb8 A G 1: 107,534,714 (GRCm39) S262G probably benign Het
Sspo G A 6: 48,474,320 (GRCm39) G4780R probably damaging Het
Ush2a A G 1: 188,648,258 (GRCm39) E4621G probably damaging Het
Other mutations in Osgin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Osgin2 APN 4 16,006,377 (GRCm39) missense probably damaging 1.00
IGL03164:Osgin2 APN 4 16,001,938 (GRCm39) missense probably benign 0.03
R1115:Osgin2 UTSW 4 15,998,085 (GRCm39) missense possibly damaging 0.87
R1515:Osgin2 UTSW 4 15,998,380 (GRCm39) missense probably benign
R1878:Osgin2 UTSW 4 16,005,493 (GRCm39) missense probably damaging 0.99
R1964:Osgin2 UTSW 4 15,998,358 (GRCm39) missense probably damaging 1.00
R2116:Osgin2 UTSW 4 16,008,648 (GRCm39) missense probably damaging 0.99
R4684:Osgin2 UTSW 4 16,001,946 (GRCm39) missense probably benign
R4890:Osgin2 UTSW 4 16,013,739 (GRCm39) utr 5 prime probably benign
R5628:Osgin2 UTSW 4 15,998,998 (GRCm39) missense probably benign 0.01
R5982:Osgin2 UTSW 4 15,998,908 (GRCm39) missense probably benign
R6418:Osgin2 UTSW 4 16,006,410 (GRCm39) missense probably benign
R7239:Osgin2 UTSW 4 16,008,748 (GRCm39) missense probably benign 0.00
R8502:Osgin2 UTSW 4 16,005,493 (GRCm39) missense probably damaging 0.99
R9489:Osgin2 UTSW 4 15,998,427 (GRCm39) missense probably damaging 1.00
R9605:Osgin2 UTSW 4 15,998,427 (GRCm39) missense probably damaging 1.00
R9700:Osgin2 UTSW 4 16,006,455 (GRCm39) missense probably damaging 0.99
R9789:Osgin2 UTSW 4 15,998,957 (GRCm39) missense probably damaging 1.00
Posted On 2012-04-20