Incidental Mutation 'IGL00565:Oraov1'
ID12868
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oraov1
Ensembl Gene ENSMUSG00000031072
Gene Nameoral cancer overexpressed 1
SynonymsTAOS1, 2210010N10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.905) question?
Stock #IGL00565
Quality Score
Status
Chromosome7
Chromosomal Location144915100-144931701 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 144916483 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 50 (V50F)
Ref Sequence ENSEMBL: ENSMUSP00000115840 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033388] [ENSMUST00000105895] [ENSMUST00000128057] [ENSMUST00000141737]
Predicted Effect possibly damaging
Transcript: ENSMUST00000033388
AA Change: V50F

PolyPhen 2 Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000033388
Gene: ENSMUSG00000031072
AA Change: V50F

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 2.6e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000093964
Predicted Effect possibly damaging
Transcript: ENSMUST00000105895
AA Change: V50F

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000101515
Gene: ENSMUSG00000031072
AA Change: V50F

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 2e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000128057
AA Change: V50F

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115840
Gene: ENSMUSG00000031072
AA Change: V50F

DomainStartEndE-ValueType
Pfam:Yae1_N 36 74 7.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147460
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207094
Predicted Effect probably benign
Transcript: ENSMUST00000207453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227063
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik C A 7: 41,625,572 T233K possibly damaging Het
Adamts9 A T 6: 92,859,902 M623K possibly damaging Het
Arid1a T G 4: 133,685,482 D1467A unknown Het
Cdhr2 A G 13: 54,718,299 D304G probably damaging Het
Cenpj C T 14: 56,553,030 V521I probably benign Het
Csf2rb G T 15: 78,348,514 E674* probably null Het
Edaradd C T 13: 12,483,599 probably null Het
Emilin2 A G 17: 71,252,859 V1041A possibly damaging Het
Fam135b A G 15: 71,471,512 V418A probably benign Het
Fam96a A T 9: 66,132,616 I72L probably benign Het
Gnas T A 2: 174,341,711 probably benign Het
Grxcr1 A T 5: 68,032,197 N104Y possibly damaging Het
Gtf2a1l T A 17: 88,694,295 L146Q probably damaging Het
Hectd1 T A 12: 51,790,398 E791D probably damaging Het
Ifi203 A G 1: 173,937,740 probably null Het
Klk1b11 A G 7: 43,999,819 N260S probably damaging Het
Map4 A T 9: 110,072,604 probably benign Het
Marveld2 C T 13: 100,600,893 V163M possibly damaging Het
Med14 T C X: 12,746,764 probably benign Het
Mex3b A T 7: 82,868,908 I144F probably damaging Het
Pde2a T A 7: 101,484,589 C92* probably null Het
Phf6 T A X: 52,931,639 Y103N probably damaging Het
Ptprt A G 2: 161,560,191 I1039T probably damaging Het
Rftn2 C A 1: 55,204,285 V275F probably damaging Het
Skap1 C A 11: 96,731,145 Q296K probably damaging Het
Skap1 T A 11: 96,731,190 F311I probably damaging Het
Tas2r115 A G 6: 132,737,778 I70T probably benign Het
Vav2 T C 2: 27,277,238 D613G probably benign Het
Wdr63 T C 3: 146,044,919 probably benign Het
Zranb3 T C 1: 128,016,140 E290G probably benign Het
Other mutations in Oraov1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00225:Oraov1 APN 7 144917668 missense possibly damaging 0.94
IGL03130:Oraov1 APN 7 144916460 missense probably damaging 1.00
PIT4382001:Oraov1 UTSW 7 144916444 missense probably damaging 1.00
R0784:Oraov1 UTSW 7 144919277 missense probably benign 0.33
R1938:Oraov1 UTSW 7 144916468 missense probably damaging 0.99
R4115:Oraov1 UTSW 7 144919646 missense possibly damaging 0.78
R4695:Oraov1 UTSW 7 144928978 unclassified probably null
R6056:Oraov1 UTSW 7 144915286 missense possibly damaging 0.76
R6364:Oraov1 UTSW 7 144919268 missense probably benign 0.00
Posted On2012-12-06