Incidental Mutation 'IGL00391:Osgin2'
ID6707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Osgin2
Ensembl Gene ENSMUSG00000041153
Gene Nameoxidative stress induced growth inhibitor family member 2
SynonymsC230027H09Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #IGL00391
Quality Score
Status
Chromosome4
Chromosomal Location15997121-16013888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 16006439 bp
ZygosityHeterozygous
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]
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
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Fam47e A C 5: 92,579,663 E143D probably damaging Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Osgin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00767:Osgin2 APN 4 16006377 missense probably damaging 1.00
IGL03164:Osgin2 APN 4 16001938 missense probably benign 0.03
R1115:Osgin2 UTSW 4 15998085 missense possibly damaging 0.87
R1515:Osgin2 UTSW 4 15998380 missense probably benign
R1878:Osgin2 UTSW 4 16005493 missense probably damaging 0.99
R1964:Osgin2 UTSW 4 15998358 missense probably damaging 1.00
R2116:Osgin2 UTSW 4 16008648 missense probably damaging 0.99
R4684:Osgin2 UTSW 4 16001946 missense probably benign
R4890:Osgin2 UTSW 4 16013739 utr 5 prime probably benign
R5628:Osgin2 UTSW 4 15998998 missense probably benign 0.01
R5982:Osgin2 UTSW 4 15998908 missense probably benign
R6418:Osgin2 UTSW 4 16006410 missense probably benign
R7239:Osgin2 UTSW 4 16008748 missense probably benign 0.00
Posted On2012-04-20