Incidental Mutation 'IGL02605:Api5'
ID300239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Api5
Ensembl Gene ENSMUSG00000027193
Gene Nameapoptosis inhibitor 5
SynonymsAAC-11
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.894) question?
Stock #IGL02605
Quality Score
Status
Chromosome2
Chromosomal Location94411682-94438136 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 94429719 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 64 (I64T)
Ref Sequence ENSEMBL: ENSMUSP00000028617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028617]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028617
AA Change: I64T

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028617
Gene: ENSMUSG00000027193
AA Change: I64T

DomainStartEndE-ValueType
Pfam:API5 4 504 8.9e-201 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144390
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152454
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an apoptosis inhibitory protein whose expression prevents apoptosis after growth factor deprivation. This protein suppresses the transcription factor E2F1-induced apoptosis and also interacts with, and negatively regulates Acinus, a nuclear factor involved in apoptotic DNA fragmentation. Its depletion enhances the cytotoxic action of the chemotherapeutic drugs. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb2 A T 2: 103,717,257 Y992F probably benign Het
Adgrg6 T A 10: 14,467,232 N324Y probably damaging Het
Ampd3 T C 7: 110,795,758 F305L probably benign Het
Ankrd35 A G 3: 96,681,072 probably null Het
Arhgap21 A G 2: 20,855,588 I1165T probably damaging Het
Bdp1 T C 13: 100,078,115 probably null Het
Capn3 T A 2: 120,496,037 I570N probably damaging Het
Catsperg2 T C 7: 29,719,565 H232R possibly damaging Het
Clcn7 T C 17: 25,146,818 L156P possibly damaging Het
Cpa3 C A 3: 20,222,212 V286F probably benign Het
Csrnp3 G A 2: 66,022,809 C527Y probably damaging Het
Dock5 A T 14: 67,828,438 V372E probably benign Het
Elmo1 T C 13: 20,605,202 L696P probably damaging Het
Fam91a1 T C 15: 58,431,196 probably benign Het
Gm12695 T A 4: 96,762,751 D155V probably null Het
Hspa4l A G 3: 40,781,623 I559V probably benign Het
Kdm1a G T 4: 136,551,037 probably benign Het
Lrrc8d A T 5: 105,826,817 noncoding transcript Het
Minpp1 A T 19: 32,498,415 Y316F possibly damaging Het
Neto2 T C 8: 85,663,435 probably benign Het
Nrxn2 T A 19: 6,450,580 D277E probably benign Het
Ola1 A G 2: 73,142,300 probably benign Het
Olfr1298 A G 2: 111,645,505 V164A probably benign Het
Olfr550 T C 7: 102,579,395 I300T probably damaging Het
Olfr893 T A 9: 38,209,236 M61K probably damaging Het
Pam A G 1: 97,840,339 V722A possibly damaging Het
Pfdn6 T C 17: 33,939,103 Y90C probably benign Het
Pkhd1 T A 1: 20,550,902 H844L possibly damaging Het
Plk5 G A 10: 80,363,062 V422M probably damaging Het
Psmc1 G T 12: 100,119,127 R249L probably damaging Het
Ptpro C T 6: 137,380,318 P269L probably benign Het
Ralgapa1 G T 12: 55,712,665 H1480Q possibly damaging Het
Rars G A 11: 35,824,526 probably benign Het
Rbm48 G A 5: 3,590,600 R260C possibly damaging Het
Smarcc1 C T 9: 110,222,000 H963Y possibly damaging Het
Spef2 T C 15: 9,725,152 E230G probably damaging Het
Spg11 A G 2: 122,092,260 S903P probably benign Het
Tas2r122 T C 6: 132,711,609 Y107C probably damaging Het
Tpm3 C A 3: 90,088,446 N204K probably benign Het
Wdr36 T C 18: 32,851,991 I450T possibly damaging Het
Other mutations in Api5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Api5 APN 2 94418954 splice site probably benign
IGL02203:Api5 APN 2 94425074 missense probably benign 0.00
IGL02346:Api5 APN 2 94427530 missense possibly damaging 0.77
IGL02646:Api5 APN 2 94429839 missense possibly damaging 0.62
R0018:Api5 UTSW 2 94420984 critical splice donor site probably null
R0149:Api5 UTSW 2 94423497 nonsense probably null
R0361:Api5 UTSW 2 94423497 nonsense probably null
R1554:Api5 UTSW 2 94425643 missense probably benign 0.14
R2507:Api5 UTSW 2 94429817 missense probably damaging 1.00
R3723:Api5 UTSW 2 94425613 missense possibly damaging 0.76
R3724:Api5 UTSW 2 94425613 missense possibly damaging 0.76
R3737:Api5 UTSW 2 94425613 missense possibly damaging 0.76
R3738:Api5 UTSW 2 94425613 missense possibly damaging 0.76
R4035:Api5 UTSW 2 94425613 missense possibly damaging 0.76
R4724:Api5 UTSW 2 94423471 missense possibly damaging 0.95
R5306:Api5 UTSW 2 94423466 nonsense probably null
R5337:Api5 UTSW 2 94425688 missense possibly damaging 0.94
R6577:Api5 UTSW 2 94422381 missense probably benign 0.24
R7031:Api5 UTSW 2 94425616 missense probably benign 0.01
R7936:Api5 UTSW 2 94438047 start gained probably benign
Posted On2015-04-16