Incidental Mutation 'IGL00767:Osgin2'
ID12880
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: 0.348) question?
Stock #IGL00767
Quality Score
Status
Chromosome4
Chromosomal Location15997121-16013888 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 16006377 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Tyrosine at position 106 (H106Y)
Ref Sequence ENSEMBL: ENSMUSP00000047473 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037198] [ENSMUST00000149891]
Predicted Effect probably damaging
Transcript: ENSMUST00000037198
AA Change: H106Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047473
Gene: ENSMUSG00000041153
AA Change: H106Y

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: H106Y

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810474O19Rik T C 6: 149,334,750 probably benign Het
Anpep A C 7: 79,840,890 S293A probably benign Het
Dgkh T A 14: 78,587,261 probably benign Het
Dlg5 T A 14: 24,165,285 T657S probably damaging Het
Hpf1 A G 8: 60,896,802 I155V probably benign Het
Il12rb2 T C 6: 67,303,562 I554V possibly damaging Het
Mindy2 A G 9: 70,634,003 probably null Het
Nostrin A G 2: 69,175,775 T268A probably benign Het
Npy6r A G 18: 44,276,318 T269A probably benign Het
Nt5dc3 T A 10: 86,820,273 probably benign Het
Pdlim3 G A 8: 45,896,790 G46R probably damaging Het
Pdpk1 T G 17: 24,106,861 K147N possibly damaging Het
Pfkfb3 T C 2: 11,488,754 D137G probably damaging Het
Polg G A 7: 79,451,925 P1048S probably damaging Het
Ptcd3 A T 6: 71,903,448 I97K probably damaging Het
Serpinb10 G T 1: 107,536,077 V30F possibly damaging Het
Stk17b A G 1: 53,764,023 probably benign Het
Tll1 G A 8: 64,071,321 R444C probably damaging Het
Ttbk2 A G 2: 120,745,745 V848A probably benign Het
Ttn T C 2: 76,885,673 probably benign Het
Other mutations in Osgin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00391:Osgin2 APN 4 16006439 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 On2012-12-06