Incidental Mutation 'R5511:Apaf1'
ID 431237
Institutional Source Beutler Lab
Gene Symbol Apaf1
Ensembl Gene ENSMUSG00000019979
Gene Name apoptotic peptidase activating factor 1
Synonyms 6230400I06Rik, Apaf1l
MMRRC Submission 043072-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5511 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 90825173-90918632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90890254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 583 (Y583C)
Ref Sequence ENSEMBL: ENSMUSP00000124134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020157] [ENSMUST00000159110] [ENSMUST00000162618]
AlphaFold O88879
Predicted Effect probably damaging
Transcript: ENSMUST00000020157
AA Change: Y594C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: Y594C

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 damaging
Transcript: ENSMUST00000159110
AA Change: Y594C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: Y594C

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 damaging
Transcript: ENSMUST00000162618
AA Change: Y583C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: Y583C

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
Meta Mutation Damage Score 0.7214 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.4%
  • 10x: 95.1%
  • 20x: 90.3%
Validation Efficiency 98% (81/83)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T C 3: 59,654,685 (GRCm39) L173P probably damaging Het
Agl A T 3: 116,582,209 (GRCm39) V271D possibly damaging Het
Alox15 G T 11: 70,240,808 (GRCm39) P191T probably benign Het
Aqp9 T A 9: 71,070,375 (GRCm39) probably benign Het
Bms1 A G 6: 118,365,848 (GRCm39) F1113L possibly damaging Het
Cap1 A C 4: 122,756,583 (GRCm39) probably benign Het
Car11 T C 7: 45,349,885 (GRCm39) W35R probably damaging Het
Casc3 T A 11: 98,701,740 (GRCm39) Y91* probably null Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Cd22 A T 7: 30,569,496 (GRCm39) I540N probably damaging Het
Chad A T 11: 94,456,072 (GRCm39) E50V probably damaging Het
Chd3 C G 11: 69,252,301 (GRCm39) G34R probably damaging Het
Col9a1 T C 1: 24,218,619 (GRCm39) V77A unknown Het
Copg1 G A 6: 87,889,276 (GRCm39) V873M probably damaging Het
Dnhd1 T A 7: 105,363,363 (GRCm39) V3975E probably damaging Het
Dock6 A T 9: 21,728,703 (GRCm39) V1290D possibly damaging Het
Elp2 A T 18: 24,745,507 (GRCm39) K150* probably null Het
Eri3 A C 4: 117,472,386 (GRCm39) Y260S possibly damaging Het
Esrrg C T 1: 187,943,304 (GRCm39) L426F probably damaging Het
Farp1 G T 14: 121,474,584 (GRCm39) V266L probably damaging Het
Flnc A G 6: 29,458,897 (GRCm39) E2459G probably damaging Het
Glis1 G A 4: 107,293,074 (GRCm39) D66N probably damaging Het
Gm14129 T A 2: 148,773,446 (GRCm39) noncoding transcript Het
Gm28051 A G 12: 102,686,415 (GRCm39) *82R probably null Het
Gm8741 G T 17: 35,555,062 (GRCm39) noncoding transcript Het
Gne C T 4: 44,041,843 (GRCm39) V485M probably damaging Het
Lcn10 T A 2: 25,572,841 (GRCm39) V15E probably benign Het
Mapk11 T A 15: 89,029,380 (GRCm39) probably null Het
Me3 T G 7: 89,455,876 (GRCm39) Y243D probably damaging Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Myo1h T A 5: 114,483,958 (GRCm39) L519* probably null Het
Myo9a T C 9: 59,687,495 (GRCm39) V200A probably damaging Het
Mzf1 T A 7: 12,785,526 (GRCm39) Q161H possibly damaging Het
Nim1k T G 13: 120,189,130 (GRCm39) H93P probably damaging Het
Nkx6-1 C A 5: 101,811,532 (GRCm39) R190L probably damaging Het
Noc3l A G 19: 38,782,625 (GRCm39) V671A probably benign Het
Nsd1 T C 13: 55,460,543 (GRCm39) S2257P probably benign Het
Nup210 T A 6: 91,003,945 (GRCm39) I648F probably damaging Het
Oplah T C 15: 76,189,944 (GRCm39) E223G possibly damaging Het
Or5b120 T C 19: 13,480,556 (GRCm39) M283T probably benign Het
Plekhs1 A C 19: 56,474,224 (GRCm39) T457P probably damaging Het
Plppr4 G A 3: 117,119,551 (GRCm39) T286I probably benign Het
Prpf4b T C 13: 35,068,037 (GRCm39) probably benign Het
Prss39 T A 1: 34,541,878 (GRCm39) D318E possibly damaging Het
Psap A G 10: 60,134,959 (GRCm39) E289G possibly damaging Het
Rad17 A G 13: 100,764,157 (GRCm39) V438A possibly damaging Het
Raf1 T C 6: 115,597,217 (GRCm39) S28G probably benign Het
Ranbp2 A G 10: 58,329,561 (GRCm39) D2978G probably benign Het
Rnf170 T A 8: 26,631,027 (GRCm39) D213E probably damaging Het
Rsph3a T A 17: 8,164,905 (GRCm39) H88Q possibly damaging Het
Scd1 A G 19: 44,395,198 (GRCm39) I9T probably benign Het
Sgk3 T C 1: 9,968,911 (GRCm39) probably benign Het
Slc14a1 C T 18: 78,145,686 (GRCm39) S416N probably benign Het
Smok4a T C 17: 13,746,474 (GRCm39) noncoding transcript Het
Sostdc1 A T 12: 36,367,165 (GRCm39) I114F probably damaging Het
Spen G A 4: 141,202,375 (GRCm39) T2084I possibly damaging Het
Spen G T 4: 141,244,149 (GRCm39) D295E unknown Het
Sptbn5 T C 2: 119,890,202 (GRCm39) probably benign Het
Srebf1 T C 11: 60,101,184 (GRCm39) probably benign Het
Tcea3 A T 4: 135,998,683 (GRCm39) Y319F probably damaging Het
Timd4 T A 11: 46,710,807 (GRCm39) probably null Het
Tmem88b G A 4: 155,870,002 (GRCm39) P20S probably damaging Het
Tsen2 T A 6: 115,538,365 (GRCm39) C281S probably damaging Het
Vmn2r28 T C 7: 5,487,011 (GRCm39) T551A possibly damaging Het
Vmn2r45 T C 7: 8,474,832 (GRCm39) H732R probably benign Het
Wdr90 A G 17: 26,063,995 (GRCm39) probably benign Het
Zdbf2 T C 1: 63,344,836 (GRCm39) S1072P probably benign Het
Zfp148 A G 16: 33,255,004 (GRCm39) probably benign Het
Zfp2 T A 11: 50,790,851 (GRCm39) E397D probably damaging Het
Zfp729b A G 13: 67,740,499 (GRCm39) F599L probably damaging 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
IGL01713:Apaf1 APN 10 90,897,694 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACTTCTCTGGAACTTTCTACTGAG -3'
(R):5'- GCTCTGGCTCTGTGTCTAAC -3'

Sequencing Primer
(F):5'- CCAAGGAGTGGCACTCTTAG -3'
(R):5'- CAGTTTATTCTTAGGATTGTGCAGTC -3'
Posted On 2016-10-05