Incidental Mutation 'IGL02230:Pipox'
ID 285671
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pipox
Ensembl Gene ENSMUSG00000017453
Gene Name pipecolic acid oxidase
Synonyms Pso
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02230
Quality Score
Status
Chromosome 11
Chromosomal Location 77880615-77894096 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 77881206 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 364 (L364P)
Ref Sequence ENSEMBL: ENSMUSP00000017597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017597]
AlphaFold Q9D826
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
R9049:Pipox UTSW 11 77881554 missense probably damaging 0.99
R9239:Pipox UTSW 11 77883939 missense probably benign 0.01
R9491:Pipox UTSW 11 77881533 missense probably benign 0.03
Z1177:Pipox UTSW 11 77881530 missense possibly damaging 0.55
Posted On 2015-04-16