Incidental Mutation 'R9516:Apaf1'
ID 718586
Institutional Source Beutler Lab
Gene Symbol Apaf1
Ensembl Gene ENSMUSG00000019979
Gene Name apoptotic peptidase activating factor 1
Synonyms 6230400I06Rik, Apaf1l
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9516 (G1)
Quality Score 225.009
Status Not validated
Chromosome 10
Chromosomal Location 90825173-90918632 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 90915816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 24 (Y24C)
Ref Sequence ENSEMBL: ENSMUSP00000020157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020149] [ENSMUST00000020150] [ENSMUST00000020157] [ENSMUST00000159110] [ENSMUST00000160788] [ENSMUST00000161987] [ENSMUST00000162618]
AlphaFold O88879
Predicted Effect probably benign
Transcript: ENSMUST00000020149
SMART Domains Protein: ENSMUSP00000020149
Gene: ENSMUSG00000019975

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
coiled coil region 80 154 N/A INTRINSIC
coiled coil region 175 257 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000020150
SMART Domains Protein: ENSMUSP00000020150
Gene: ENSMUSG00000019975

DomainStartEndE-ValueType
low complexity region 42 58 N/A INTRINSIC
coiled coil region 89 109 N/A INTRINSIC
coiled coil region 234 261 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000020157
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: Y24C

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: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: Y24C

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: ENSMUST00000160788
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124968
Gene: ENSMUSG00000019979
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:CARD 6 90 1e-21 PFAM
Pfam:NB-ARC 129 238 6.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161987
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124422
Gene: ENSMUSG00000019979
AA Change: Y24C

DomainStartEndE-ValueType
Pfam:CARD 6 90 1e-21 PFAM
Pfam:NB-ARC 129 238 6.9e-24 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000162618
AA Change: Y24C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: Y24C

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3300002I08Rik T C 2: 150,153,122 (GRCm39) N88D possibly damaging Het
4933430I17Rik A G 4: 62,460,916 (GRCm39) I264V probably benign Het
Abcc8 A G 7: 45,787,429 (GRCm39) F591L probably benign Het
Abr G T 11: 76,310,658 (GRCm39) T810K probably damaging Het
Abracl T C 10: 17,894,631 (GRCm39) E6G unknown Het
Adamts3 A T 5: 89,834,750 (GRCm39) Y871N probably damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Alas1 A G 9: 106,115,840 (GRCm39) probably null Het
Anapc1 A C 2: 128,517,633 (GRCm39) L337R possibly damaging Het
Arhgef16 A G 4: 154,365,432 (GRCm39) V561A possibly damaging Het
Atp10b T A 11: 43,121,224 (GRCm39) H962Q probably benign Het
Brsk2 A G 7: 141,546,852 (GRCm39) T432A probably benign Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Caps2 A T 10: 112,036,637 (GRCm39) H399L probably benign Het
Ccdc43 C A 11: 102,577,207 (GRCm39) K199N probably benign Het
Ccdc7a G T 8: 129,555,774 (GRCm39) P1198T unknown Het
Cct7 A G 6: 85,444,625 (GRCm39) Y423C possibly damaging Het
Cep112 A G 11: 108,648,514 (GRCm39) T783A probably damaging Het
Cep250 A G 2: 155,833,459 (GRCm39) T1795A probably benign Het
Clasp1 T G 1: 118,431,560 (GRCm39) S397A possibly damaging Het
Clock A C 5: 76,377,227 (GRCm39) F691V possibly damaging Het
Cmklr1 A G 5: 113,752,341 (GRCm39) V220A probably benign Het
Coro2b A T 9: 62,335,291 (GRCm39) Y298* probably null Het
Cspg4b A T 13: 113,455,649 (GRCm39) N565I Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Dlk2 G A 17: 46,613,432 (GRCm39) G186D probably damaging Het
Dok1 T C 6: 83,009,972 (GRCm39) K46E probably damaging Het
Dok3 A G 13: 55,672,186 (GRCm39) I164T probably benign Het
Ercc5 T A 1: 44,207,041 (GRCm39) D651E probably damaging Het
Erp27 T C 6: 136,885,066 (GRCm39) K244R probably benign Het
Fhip1a G A 3: 85,580,559 (GRCm39) Q549* probably null Het
Flvcr2 T C 12: 85,793,954 (GRCm39) V110A possibly damaging Het
Gsta3 T C 1: 21,320,060 (GRCm39) L22P probably damaging Het
Hdac5 T C 11: 102,093,522 (GRCm39) T493A probably benign Het
Hivep2 T A 10: 14,005,523 (GRCm39) I707N probably benign Het
Hmox1 A G 8: 75,823,544 (GRCm39) N71D probably benign Het
Hnrnpr G T 4: 136,063,615 (GRCm39) V342F probably damaging Het
Ifi44 T C 3: 151,438,108 (GRCm39) D393G probably damaging Het
Ighv1-82 A T 12: 115,916,566 (GRCm39) F9I probably damaging Het
Kalrn A G 16: 33,854,864 (GRCm39) S1999P probably damaging Het
Kcnq2 A G 2: 180,776,753 (GRCm39) S45P probably benign Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Kti12 T C 4: 108,705,476 (GRCm39) V130A probably benign Het
Lama2 T C 10: 27,100,015 (GRCm39) E830G probably benign Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Med13 A T 11: 86,179,801 (GRCm39) N1382K probably benign Het
Mrpl42 A G 10: 95,332,684 (GRCm39) probably null Het
Mtor A G 4: 148,569,103 (GRCm39) D1140G probably benign Het
Mtrr A G 13: 68,720,755 (GRCm39) I280T probably benign Het
Myh4 A T 11: 67,139,290 (GRCm39) I536F probably damaging Het
Myh4 T A 11: 67,141,129 (GRCm39) N730K probably damaging Het
Nat10 A C 2: 103,563,364 (GRCm39) L545R probably damaging Het
Nav3 T A 10: 109,520,015 (GRCm39) D2356V probably damaging Het
Nbea A T 3: 55,937,366 (GRCm39) S748R probably damaging Het
Nlrp1a T C 11: 70,998,488 (GRCm39) T904A probably benign Het
Nod2 A T 8: 89,397,050 (GRCm39) N820I probably damaging Het
Nptx1 A G 11: 119,433,381 (GRCm39) V406A probably damaging Het
Nrdc T A 4: 108,901,863 (GRCm39) I644K probably benign Het
Or4e1 T C 14: 52,700,873 (GRCm39) I198V probably benign Het
Ostf1 T A 19: 18,573,735 (GRCm39) I38F probably benign Het
Pacc1 G A 1: 191,082,004 (GRCm39) R337Q probably damaging Het
Pde4b G T 4: 102,462,183 (GRCm39) D605Y probably damaging Het
Pde4d A G 13: 109,397,196 (GRCm39) T3A Het
Pknox1 A G 17: 31,822,183 (GRCm39) I317V probably damaging Het
Plekhh2 A G 17: 84,918,240 (GRCm39) N1283S probably benign Het
Ppp3cb G A 14: 20,573,868 (GRCm39) A289V probably damaging Het
Prag1 A G 8: 36,607,208 (GRCm39) D983G probably damaging Het
Psmd13 C T 7: 140,478,455 (GRCm39) T62M Het
Rab42 C T 4: 132,029,890 (GRCm39) V111I Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Rapgef6 T A 11: 54,582,169 (GRCm39) S1365R probably damaging Het
Rassf4 G T 6: 116,617,265 (GRCm39) H247N possibly damaging Het
Rbfox1 A G 16: 7,227,573 (GRCm39) T363A probably benign Het
Rbmyf9 T A Y: 3,774,888 (GRCm39) F28L probably damaging Het
Sbf1 T C 15: 89,184,742 (GRCm39) D1091G probably damaging Het
Scaper A G 9: 55,593,275 (GRCm39) V454A probably benign Het
Selenbp2 G A 3: 94,607,352 (GRCm39) D258N probably benign Het
Sirpa A T 2: 129,457,555 (GRCm39) I210F probably damaging Het
Skint4 T C 4: 112,015,236 (GRCm39) S434P probably benign Het
Slc26a5 G A 5: 22,016,337 (GRCm39) Q682* probably null Het
Slco4a1 C T 2: 180,115,943 (GRCm39) S693F possibly damaging Het
Smpd3 A G 8: 106,992,119 (GRCm39) F145L probably benign Het
Son CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC 16: 91,453,579 (GRCm39) probably benign Het
Spata31d1c A T 13: 65,184,040 (GRCm39) L527F probably damaging Het
Srd5a3 A G 5: 76,297,794 (GRCm39) N199D probably benign Het
Stard9 C G 2: 120,534,564 (GRCm39) P3607R probably damaging Het
Sytl1 A G 4: 132,986,291 (GRCm39) probably null Het
Tas2r126 A G 6: 42,412,307 (GRCm39) H280R probably null Het
Tcf4 C T 18: 69,652,944 (GRCm39) probably benign Het
Tlcd2 A G 11: 75,359,112 (GRCm39) T28A probably damaging Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem119 A G 5: 113,933,267 (GRCm39) L178P probably damaging Het
Tmprss7 T C 16: 45,484,564 (GRCm39) D532G probably benign Het
Tnfaip8l3 A G 9: 53,934,777 (GRCm39) I66T probably benign Het
Tor1b A G 2: 30,843,185 (GRCm39) Y50C probably damaging Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trip12 A T 1: 84,735,215 (GRCm39) V932E probably damaging Het
Ttn T A 2: 76,777,104 (GRCm39) T1479S unknown Het
Unc13c A T 9: 73,392,220 (GRCm39) V2044D probably damaging Het
Usp25 T G 16: 76,852,076 (GRCm39) V197G probably damaging Het
Vmn2r34 A G 7: 7,675,366 (GRCm39) V674A probably benign Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp821 A G 8: 110,447,856 (GRCm39) T66A probably damaging Het
Zfp97 T A 17: 17,365,930 (GRCm39) N476K possibly 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
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
R9623:Apaf1 UTSW 10 90,913,463 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTGCAGCACAAATTAGCTGAGAATG -3'
(R):5'- AAGTTACACATCCGGCGCTC -3'

Sequencing Primer
(F):5'- GTGGCTCACAACCATCTGTAATGG -3'
(R):5'- GGCGCTCACACATCCTGTTG -3'
Posted On 2022-07-18