Incidental Mutation 'IGL02605:Api5'
ID 300239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Api5
Ensembl Gene ENSMUSG00000027193
Gene Name apoptosis inhibitor 5
Synonyms AAC-11
Accession Numbers
Essential gene? Probably essential (E-score: 0.923) question?
Stock # IGL02605
Quality Score
Status
Chromosome 2
Chromosomal Location 94242073-94268490 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94260064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 64 (I64T)
Ref Sequence ENSEMBL: ENSMUSP00000028617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028617]
AlphaFold O35841
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: 103,547,602 (GRCm39) Y992F probably benign Het
Adgrg6 T A 10: 14,342,976 (GRCm39) N324Y probably damaging Het
Ampd3 T C 7: 110,394,965 (GRCm39) F305L probably benign Het
Ankrd35 A G 3: 96,588,388 (GRCm39) probably null Het
Arhgap21 A G 2: 20,860,399 (GRCm39) I1165T probably damaging Het
Bdp1 T C 13: 100,214,623 (GRCm39) probably null Het
Capn3 T A 2: 120,326,518 (GRCm39) I570N probably damaging Het
Catsperg2 T C 7: 29,418,990 (GRCm39) H232R possibly damaging Het
Clcn7 T C 17: 25,365,792 (GRCm39) L156P possibly damaging Het
Cpa3 C A 3: 20,276,376 (GRCm39) V286F probably benign Het
Csrnp3 G A 2: 65,853,153 (GRCm39) C527Y probably damaging Het
Dock5 A T 14: 68,065,887 (GRCm39) V372E probably benign Het
Elmo1 T C 13: 20,789,372 (GRCm39) L696P probably damaging Het
Fam91a1 T C 15: 58,303,045 (GRCm39) probably benign Het
Gm12695 T A 4: 96,650,988 (GRCm39) D155V probably null Het
Hspa4l A G 3: 40,736,055 (GRCm39) I559V probably benign Het
Kdm1a G T 4: 136,278,348 (GRCm39) probably benign Het
Lrrc8d A T 5: 105,974,683 (GRCm39) noncoding transcript Het
Minpp1 A T 19: 32,475,815 (GRCm39) Y316F possibly damaging Het
Neto2 T C 8: 86,390,064 (GRCm39) probably benign Het
Nrxn2 T A 19: 6,500,610 (GRCm39) D277E probably benign Het
Ola1 A G 2: 72,972,644 (GRCm39) probably benign Het
Or4k48 A G 2: 111,475,850 (GRCm39) V164A probably benign Het
Or51r1 T C 7: 102,228,602 (GRCm39) I300T probably damaging Het
Or8c15 T A 9: 38,120,532 (GRCm39) M61K probably damaging Het
Pam A G 1: 97,768,064 (GRCm39) V722A possibly damaging Het
Pfdn6 T C 17: 34,158,077 (GRCm39) Y90C probably benign Het
Pkhd1 T A 1: 20,621,126 (GRCm39) H844L possibly damaging Het
Plk5 G A 10: 80,198,896 (GRCm39) V422M probably damaging Het
Psmc1 G T 12: 100,085,386 (GRCm39) R249L probably damaging Het
Ptpro C T 6: 137,357,316 (GRCm39) P269L probably benign Het
Ralgapa1 G T 12: 55,759,450 (GRCm39) H1480Q possibly damaging Het
Rars1 G A 11: 35,715,353 (GRCm39) probably benign Het
Rbm48 G A 5: 3,640,600 (GRCm39) R260C possibly damaging Het
Smarcc1 C T 9: 110,051,068 (GRCm39) H963Y possibly damaging Het
Spef2 T C 15: 9,725,238 (GRCm39) E230G probably damaging Het
Spg11 A G 2: 121,922,741 (GRCm39) S903P probably benign Het
Tas2r122 T C 6: 132,688,572 (GRCm39) Y107C probably damaging Het
Tpm3 C A 3: 89,995,753 (GRCm39) N204K probably benign Het
Wdr36 T C 18: 32,985,044 (GRCm39) I450T possibly damaging Het
Other mutations in Api5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Api5 APN 2 94,249,299 (GRCm39) splice site probably benign
IGL02203:Api5 APN 2 94,255,419 (GRCm39) missense probably benign 0.00
IGL02346:Api5 APN 2 94,257,875 (GRCm39) missense possibly damaging 0.77
IGL02646:Api5 APN 2 94,260,184 (GRCm39) missense possibly damaging 0.62
R0018:Api5 UTSW 2 94,251,329 (GRCm39) critical splice donor site probably null
R0149:Api5 UTSW 2 94,253,842 (GRCm39) nonsense probably null
R0361:Api5 UTSW 2 94,253,842 (GRCm39) nonsense probably null
R1554:Api5 UTSW 2 94,255,988 (GRCm39) missense probably benign 0.14
R2507:Api5 UTSW 2 94,260,162 (GRCm39) missense probably damaging 1.00
R3723:Api5 UTSW 2 94,255,958 (GRCm39) missense possibly damaging 0.76
R3724:Api5 UTSW 2 94,255,958 (GRCm39) missense possibly damaging 0.76
R3737:Api5 UTSW 2 94,255,958 (GRCm39) missense possibly damaging 0.76
R3738:Api5 UTSW 2 94,255,958 (GRCm39) missense possibly damaging 0.76
R4035:Api5 UTSW 2 94,255,958 (GRCm39) missense possibly damaging 0.76
R4724:Api5 UTSW 2 94,253,816 (GRCm39) missense possibly damaging 0.95
R5306:Api5 UTSW 2 94,253,811 (GRCm39) nonsense probably null
R5337:Api5 UTSW 2 94,256,033 (GRCm39) missense possibly damaging 0.94
R6577:Api5 UTSW 2 94,252,726 (GRCm39) missense probably benign 0.24
R7031:Api5 UTSW 2 94,255,961 (GRCm39) missense probably benign 0.01
R7936:Api5 UTSW 2 94,268,392 (GRCm39) start gained probably benign
R8921:Api5 UTSW 2 94,255,374 (GRCm39) missense probably damaging 1.00
R9711:Api5 UTSW 2 94,251,812 (GRCm39) missense possibly damaging 0.95
Posted On 2015-04-16