Incidental Mutation 'IGL02230:Pipox'
ID285671
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 #IGL02230
Quality Score
Status
Chromosome11
Chromosomal Location77880615-77894096 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 77881206 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 364 (L364P)
Ref Sequence ENSEMBL: ENSMUSP00000017597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017597]
Predicted Effect probably damaging
Transcript: ENSMUST00000017597
AA Change: L364P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017597
Gene: ENSMUSG00000017453
AA Change: L364P

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn1 T A 12: 80,171,830 T727S probably benign Het
Cyp4a12b A T 4: 115,433,996 I374F probably damaging Het
Ecel1 T C 1: 87,152,194 N399S probably damaging Het
Fpr-rs3 T C 17: 20,623,928 E317G probably damaging Het
Gm10030 T A 9: 111,006,390 noncoding transcript Het
Gm4884 A T 7: 41,043,405 Q266L probably damaging Het
Gpr45 C A 1: 43,032,656 A153E probably damaging Het
Hc A G 2: 35,013,670 F991L probably benign Het
Hif1a T G 12: 73,932,450 D249E probably damaging Het
Hsd17b12 A G 2: 94,045,398 L194P possibly damaging Het
Hspg2 T C 4: 137,518,645 S947P probably damaging Het
Kng1 G T 16: 23,060,494 probably null Het
Lpp C T 16: 24,762,145 R204W probably damaging Het
Lrrc4 T A 6: 28,830,880 K245N probably damaging Het
Mdga2 G A 12: 66,655,423 R335* probably null Het
Naa16 A T 14: 79,377,361 probably benign Het
Ncbp1 C A 4: 46,165,272 N528K probably benign Het
Olfr57 T A 10: 79,035,042 M82K probably damaging Het
Olfr714 A G 7: 107,074,493 I222V probably damaging Het
R3hdm4 C A 10: 79,912,091 A206S probably damaging Het
Rasgrf2 A G 13: 91,988,026 I589T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Sdr16c5 T C 4: 4,016,354 E24G probably damaging Het
Sec24a T C 11: 51,709,034 I815V possibly damaging Het
Serpina16 A G 12: 103,675,302 Y55H probably damaging Het
Sirt2 C T 7: 28,778,946 R83C probably damaging Het
Sntg1 A T 1: 8,681,971 probably null Het
Stmn1 A G 4: 134,472,913 E99G probably damaging Het
Tas2r103 T C 6: 133,037,056 I16V possibly damaging Het
Vit A G 17: 78,619,627 K334E probably damaging Het
Washc4 T C 10: 83,581,369 I876T probably benign Het
Wrn A T 8: 33,317,563 V289D probably damaging Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Pipox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01597:Pipox APN 11 77883193 missense probably damaging 0.99
pickled UTSW 11 77881179 missense possibly damaging 0.89
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
R8140:Pipox UTSW 11 77883909 missense probably benign 0.00
R8265:Pipox UTSW 11 77883967 missense probably benign
R8725:Pipox UTSW 11 77883978 nonsense probably null
Z1177:Pipox UTSW 11 77881530 missense possibly damaging 0.55
Posted On2015-04-16