Incidental Mutation 'IGL01597:Pipox'
ID91716
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pipox
Ensembl Gene ENSMUSG00000017453
Gene Namepipecolic acid oxidase
SynonymsPso
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01597
Quality Score
Status
Chromosome11
Chromosomal Location77880615-77894096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77883193 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 199 (V199A)
Ref Sequence ENSEMBL: ENSMUSP00000017597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017597]
Predicted Effect probably damaging
Transcript: ENSMUST00000017597
AA Change: V199A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: V199A

DomainStartEndE-ValueType
Pfam:DAO 9 364 3.1e-49 PFAM
Pfam:NAD_binding_8 12 54 1.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151383
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155401
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d1 A T 5: 16,326,392 probably benign Het
Cdk12 A G 11: 98,250,264 probably benign Het
Ces1e T A 8: 93,210,373 I357F probably benign Het
Dicer1 G A 12: 104,705,210 R934* probably null Het
Dnah9 A T 11: 66,118,830 Y744N probably damaging Het
Fgd5 T A 6: 91,987,929 I381N probably damaging Het
Gabrg1 T C 5: 70,782,348 D147G probably damaging Het
Gpsm2 A T 3: 108,696,987 M385K probably benign Het
Hivep2 C T 10: 14,149,374 Q2311* probably null Het
Olfr368 A C 2: 37,332,011 D88A possibly damaging Het
Olfr615 A G 7: 103,561,142 I222V possibly damaging Het
Olfr64 A G 7: 103,893,096 V213A probably benign Het
Olfr866 A T 9: 20,027,686 M84K probably damaging Het
Papss2 G A 19: 32,638,258 R130H probably damaging Het
Pik3r5 A T 11: 68,496,001 I819F probably damaging Het
Pkd1l3 G T 8: 109,623,521 V333L probably benign Het
Rbl1 A G 2: 157,195,449 probably benign Het
Scyl2 T A 10: 89,652,987 I489F probably damaging Het
Serinc4 T A 2: 121,454,991 L100F probably damaging Het
Slc39a12 T A 2: 14,434,309 F458Y possibly damaging Het
Snrnp200 T C 2: 127,238,732 probably benign Het
Syngr4 T C 7: 45,886,966 T211A probably benign Het
Taar8a T C 10: 24,076,858 L120P possibly damaging Het
Tbx10 A G 19: 3,996,736 K72R probably benign Het
Tomm70a A G 16: 57,133,188 T149A probably benign Het
Traip T A 9: 107,955,924 probably null Het
Trpm3 G A 19: 22,715,246 G234R probably damaging Het
Tubgcp5 A G 7: 55,806,832 probably benign Het
Vstm5 T C 9: 15,257,379 W80R probably damaging Het
Vwa5a A T 9: 38,733,865 R415S probably damaging Het
Zfp39 A G 11: 58,891,543 V131A probably damaging Het
Other mutations in Pipox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02230:Pipox APN 11 77881206 missense probably damaging 1.00
PIT4519001:Pipox UTSW 11 77883175 missense probably damaging 1.00
R0523:Pipox UTSW 11 77892139 missense probably damaging 1.00
R0666:Pipox UTSW 11 77883825 missense probably benign 0.20
R1375:Pipox UTSW 11 77881210 nonsense probably null
R1809:Pipox UTSW 11 77881534 missense probably benign 0.07
R1834:Pipox UTSW 11 77882123 missense probably damaging 1.00
R1897:Pipox UTSW 11 77882742 missense probably damaging 1.00
R2436:Pipox UTSW 11 77892117 missense probably damaging 1.00
R4674:Pipox UTSW 11 77893770 missense probably benign 0.02
R6480:Pipox UTSW 11 77882648 missense probably damaging 1.00
R6586:Pipox UTSW 11 77881179 missense possibly damaging 0.89
R6883:Pipox UTSW 11 77883903 missense probably benign 0.02
R6918:Pipox UTSW 11 77881554 missense probably damaging 0.99
R7223:Pipox UTSW 11 77881186 missense probably damaging 1.00
Z1177:Pipox UTSW 11 77881530 missense possibly damaging 0.55
Posted On2013-12-09