Incidental Mutation 'IGL01713:Apaf1'
ID 104872
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Apaf1
Ensembl Gene ENSMUSG00000019979
Gene Name apoptotic peptidase activating factor 1
Synonyms 6230400I06Rik, Apaf1l
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01713
Quality Score
Status
Chromosome 10
Chromosomal Location 90825173-90918632 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 90897694 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020157] [ENSMUST00000159110] [ENSMUST00000161987] [ENSMUST00000162618]
AlphaFold O88879
Predicted Effect probably benign
Transcript: ENSMUST00000020157
SMART Domains Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979

DomainStartEndE-ValueType
Pfam:CARD 6 90 7.3e-22 PFAM
Pfam:NB-ARC 129 414 1.7e-77 PFAM
WD40 604 643 1.35e-5 SMART
WD40 646 685 1.04e-11 SMART
WD40 688 729 2.98e-7 SMART
WD40 732 771 9.88e-13 SMART
WD40 780 825 1.28e1 SMART
WD40 828 868 1.43e0 SMART
WD40 871 910 3.24e-8 SMART
WD40 952 989 2.57e0 SMART
WD40 992 1031 1.09e-5 SMART
WD40 1033 1071 2.09e-2 SMART
WD40 1074 1113 2.93e-6 SMART
WD40 1116 1155 8.55e-8 SMART
WD40 1168 1204 4.55e-3 SMART
Blast:WD40 1207 1246 5e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000159110
SMART Domains Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979

DomainStartEndE-ValueType
Pfam:CARD 6 90 7.4e-21 PFAM
Pfam:NB-ARC 129 414 6.9e-71 PFAM
WD40 604 643 1.35e-5 SMART
WD40 646 685 1.04e-11 SMART
WD40 688 729 2.98e-7 SMART
WD40 732 771 9.88e-13 SMART
WD40 780 825 1.28e1 SMART
WD40 828 868 1.43e0 SMART
WD40 871 910 3.24e-8 SMART
WD40 952 989 2.57e0 SMART
WD40 992 1031 1.09e-5 SMART
WD40 1033 1071 2.09e-2 SMART
WD40 1074 1113 2.93e-6 SMART
WD40 1116 1155 8.55e-8 SMART
WD40 1168 1204 4.55e-3 SMART
Blast:WD40 1207 1246 5e-18 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000161987
SMART Domains Protein: ENSMUSP00000124422
Gene: ENSMUSG00000019979

DomainStartEndE-ValueType
Pfam:CARD 6 90 1e-21 PFAM
Pfam:NB-ARC 129 238 6.9e-24 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162618
SMART Domains Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979

DomainStartEndE-ValueType
Pfam:CARD 6 90 1.1e-20 PFAM
Pfam:NB-ARC 118 403 8.8e-72 PFAM
WD40 593 632 1.35e-5 SMART
WD40 635 674 1.04e-11 SMART
WD40 677 718 2.98e-7 SMART
WD40 721 760 9.88e-13 SMART
WD40 769 814 1.28e1 SMART
WD40 817 857 1.43e0 SMART
WD40 860 899 3.24e-8 SMART
WD40 941 978 2.57e0 SMART
WD40 981 1020 1.09e-5 SMART
WD40 1022 1060 2.09e-2 SMART
WD40 1063 1102 2.93e-6 SMART
WD40 1105 1144 8.55e-8 SMART
WD40 1157 1193 4.55e-3 SMART
Blast:WD40 1196 1235 5e-18 BLAST
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 a cytoplasmic protein that initiates apoptosis. This protein contains several copies of the WD-40 domain, a caspase recruitment domain (CARD), and an ATPase domain (NB-ARC). Upon binding cytochrome c and dATP, this protein forms an oligomeric apoptosome. The apoptosome binds and cleaves caspase 9 preproprotein, releasing its mature, activated form. Activated caspase 9 stimulates the subsequent caspase cascade that commits the cell to apoptosis. Alternative splicing results in several transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations have defects in apoptosis resulting in brain overgrowth, craniofacial defects, interdigit webbing and altered lens and retina. Most mutants die by embryonic day 16.5 or perinatally, and male survivors are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik A G 7: 130,740,772 (GRCm39) I148T possibly damaging Het
Aipl1 A G 11: 71,927,449 (GRCm39) C89R probably damaging Het
Atp7b A G 8: 22,518,589 (GRCm39) V83A probably damaging Het
Ccdc180 G T 4: 45,921,025 (GRCm39) probably null Het
Crebbp T C 16: 3,946,512 (GRCm39) I418V possibly damaging Het
Cyp26b1 G A 6: 84,551,283 (GRCm39) P427L probably benign Het
Dnal4 A G 15: 79,646,606 (GRCm39) Y92H probably damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Epha3 G A 16: 63,372,925 (GRCm39) T926I probably benign Het
Fgg T C 3: 82,915,723 (GRCm39) S55P probably benign Het
Gosr1 A T 11: 76,645,582 (GRCm39) M66K probably benign Het
Igkv12-89 G T 6: 68,812,296 (GRCm39) probably benign Het
Map3k12 T C 15: 102,410,756 (GRCm39) E451G probably damaging Het
Phkg1 T C 5: 129,895,714 (GRCm39) E179G probably benign Het
Pnpla1 A T 17: 29,100,579 (GRCm39) D482V possibly damaging Het
Pramel1 T C 4: 143,123,652 (GRCm39) V109A probably benign Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Pus7l T C 15: 94,429,493 (GRCm39) T442A probably benign Het
Sall3 A G 18: 81,013,062 (GRCm39) S1125P probably damaging Het
Scyl2 A C 10: 89,490,087 (GRCm39) I150S probably damaging Het
Sf1 T A 19: 6,424,319 (GRCm39) probably null Het
Slco1a6 A G 6: 142,032,293 (GRCm39) S611P possibly damaging Het
Vmn2r103 G T 17: 20,014,330 (GRCm39) C374F probably damaging Het
Xntrpc T C 7: 101,733,059 (GRCm39) probably benign Het
Other mutations in Apaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Apaf1 APN 10 90,859,650 (GRCm39) missense probably damaging 0.99
IGL00819:Apaf1 APN 10 90,833,202 (GRCm39) splice site probably null
IGL01481:Apaf1 APN 10 90,867,450 (GRCm39) missense possibly damaging 0.84
IGL01715:Apaf1 APN 10 90,894,216 (GRCm39) missense probably benign 0.20
IGL02152:Apaf1 APN 10 90,897,681 (GRCm39) missense probably benign 0.24
IGL02331:Apaf1 APN 10 90,895,481 (GRCm39) missense probably damaging 1.00
IGL03071:Apaf1 APN 10 90,833,117 (GRCm39) missense possibly damaging 0.88
IGL03101:Apaf1 APN 10 90,867,421 (GRCm39) missense possibly damaging 0.89
IGL03244:Apaf1 APN 10 90,885,211 (GRCm39) splice site probably benign
Bedlam UTSW 10 90,896,133 (GRCm39) missense probably damaging 0.99
Mayhem UTSW 10 90,835,581 (GRCm39) missense probably damaging 0.99
Wipeout UTSW 10 90,891,862 (GRCm39) missense probably damaging 1.00
R0520:Apaf1 UTSW 10 90,915,851 (GRCm39) missense probably damaging 0.99
R0600:Apaf1 UTSW 10 90,895,914 (GRCm39) missense probably damaging 1.00
R0607:Apaf1 UTSW 10 90,845,065 (GRCm39) missense probably damaging 1.00
R0688:Apaf1 UTSW 10 90,897,567 (GRCm39) missense possibly damaging 0.94
R0734:Apaf1 UTSW 10 90,872,883 (GRCm39) missense probably benign 0.02
R1256:Apaf1 UTSW 10 90,894,268 (GRCm39) missense probably benign
R1459:Apaf1 UTSW 10 90,898,022 (GRCm39) missense probably benign 0.00
R1485:Apaf1 UTSW 10 90,896,105 (GRCm39) missense probably benign 0.02
R1511:Apaf1 UTSW 10 90,896,047 (GRCm39) missense possibly damaging 0.81
R1531:Apaf1 UTSW 10 90,890,383 (GRCm39) missense probably damaging 1.00
R1705:Apaf1 UTSW 10 90,903,133 (GRCm39) splice site probably benign
R1919:Apaf1 UTSW 10 90,913,476 (GRCm39) nonsense probably null
R1925:Apaf1 UTSW 10 90,835,581 (GRCm39) missense probably damaging 0.99
R2001:Apaf1 UTSW 10 90,897,676 (GRCm39) missense possibly damaging 0.94
R2002:Apaf1 UTSW 10 90,897,676 (GRCm39) missense possibly damaging 0.94
R2006:Apaf1 UTSW 10 90,897,634 (GRCm39) missense probably damaging 1.00
R2043:Apaf1 UTSW 10 90,872,890 (GRCm39) missense probably damaging 1.00
R2073:Apaf1 UTSW 10 90,867,556 (GRCm39) nonsense probably null
R2101:Apaf1 UTSW 10 90,895,942 (GRCm39) missense probably benign 0.26
R2130:Apaf1 UTSW 10 90,896,027 (GRCm39) nonsense probably null
R2153:Apaf1 UTSW 10 90,883,952 (GRCm39) missense probably damaging 1.00
R2377:Apaf1 UTSW 10 90,915,755 (GRCm39) missense possibly damaging 0.95
R2421:Apaf1 UTSW 10 90,856,585 (GRCm39) missense probably damaging 1.00
R3835:Apaf1 UTSW 10 90,895,449 (GRCm39) missense probably benign 0.07
R4750:Apaf1 UTSW 10 90,896,050 (GRCm39) missense probably damaging 1.00
R5100:Apaf1 UTSW 10 90,833,149 (GRCm39) missense probably benign
R5135:Apaf1 UTSW 10 90,895,956 (GRCm39) missense probably damaging 1.00
R5497:Apaf1 UTSW 10 90,835,518 (GRCm39) missense probably damaging 1.00
R5511:Apaf1 UTSW 10 90,890,254 (GRCm39) missense probably damaging 1.00
R5659:Apaf1 UTSW 10 90,898,015 (GRCm39) nonsense probably null
R5730:Apaf1 UTSW 10 90,856,633 (GRCm39) missense possibly damaging 0.62
R6176:Apaf1 UTSW 10 90,895,433 (GRCm39) critical splice donor site probably null
R6242:Apaf1 UTSW 10 90,898,025 (GRCm39) missense probably damaging 1.00
R6292:Apaf1 UTSW 10 90,827,425 (GRCm39) missense possibly damaging 0.86
R6376:Apaf1 UTSW 10 90,859,673 (GRCm39) missense probably damaging 1.00
R6534:Apaf1 UTSW 10 90,891,862 (GRCm39) missense probably damaging 1.00
R6975:Apaf1 UTSW 10 90,856,596 (GRCm39) missense probably damaging 0.97
R7218:Apaf1 UTSW 10 90,872,864 (GRCm39) missense probably damaging 1.00
R7369:Apaf1 UTSW 10 90,836,898 (GRCm39) missense probably damaging 0.97
R7409:Apaf1 UTSW 10 90,903,108 (GRCm39) missense probably damaging 1.00
R7413:Apaf1 UTSW 10 90,831,542 (GRCm39) missense probably benign 0.28
R7418:Apaf1 UTSW 10 90,859,697 (GRCm39) missense probably benign 0.09
R7423:Apaf1 UTSW 10 90,895,468 (GRCm39) missense probably damaging 1.00
R7488:Apaf1 UTSW 10 90,890,242 (GRCm39) missense probably benign 0.35
R7765:Apaf1 UTSW 10 90,859,644 (GRCm39) missense probably benign 0.34
R7913:Apaf1 UTSW 10 90,896,133 (GRCm39) missense probably damaging 0.99
R7914:Apaf1 UTSW 10 90,896,095 (GRCm39) missense probably damaging 1.00
R7922:Apaf1 UTSW 10 90,835,615 (GRCm39) missense probably benign
R8131:Apaf1 UTSW 10 90,913,420 (GRCm39) missense possibly damaging 0.93
R8158:Apaf1 UTSW 10 90,895,520 (GRCm39) missense probably benign 0.05
R8673:Apaf1 UTSW 10 90,831,530 (GRCm39) missense probably damaging 1.00
R8682:Apaf1 UTSW 10 90,831,532 (GRCm39) missense probably damaging 1.00
R8962:Apaf1 UTSW 10 90,903,066 (GRCm39) missense probably damaging 1.00
R9069:Apaf1 UTSW 10 90,859,580 (GRCm39) critical splice donor site probably null
R9200:Apaf1 UTSW 10 90,845,102 (GRCm39) missense probably benign 0.24
R9516:Apaf1 UTSW 10 90,915,816 (GRCm39) missense probably damaging 1.00
R9623:Apaf1 UTSW 10 90,913,463 (GRCm39) nonsense probably null
Posted On 2014-01-21