Incidental Mutation 'R7418:Apaf1'
ID 575467
Institutional Source Beutler Lab
Gene Symbol Apaf1
Ensembl Gene ENSMUSG00000019979
Gene Name apoptotic peptidase activating factor 1
Synonyms 6230400I06Rik, Apaf1l
MMRRC Submission 045496-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7418 (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 G at 90859697 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Proline at position 827 (H827P)
Ref Sequence ENSEMBL: ENSMUSP00000020157 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020157] [ENSMUST00000159110] [ENSMUST00000162618]
AlphaFold O88879
Predicted Effect probably benign
Transcript: ENSMUST00000020157
AA Change: H827P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: H827P

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
AA Change: H827P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: H827P

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: ENSMUST00000162618
AA Change: H816P

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: H816P

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: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 96% (66/69)
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
Atp8b3 A T 10: 80,365,926 (GRCm39) L308Q probably damaging Het
Ccdc180 T C 4: 45,904,616 (GRCm39) L404P probably damaging Het
Cdh13 G A 8: 120,039,264 (GRCm39) G569R probably damaging Het
Clec14a G A 12: 58,315,433 (GRCm39) T63I probably damaging Het
Cngb1 G T 8: 96,004,887 (GRCm39) S487* probably null Het
Cog5 A T 12: 31,883,240 (GRCm39) N390Y probably damaging Het
Col6a4 C T 9: 105,900,114 (GRCm39) G1670S probably damaging Het
Daxx T A 17: 34,129,579 (GRCm39) D53E probably benign Het
Dnah14 C T 1: 181,444,307 (GRCm39) T539I possibly damaging Het
Dnajc2 A G 5: 21,965,622 (GRCm39) probably null Het
Ehmt1 C T 2: 24,774,646 (GRCm39) G53R probably benign Het
Eif2b1 T A 5: 124,714,893 (GRCm39) N113Y probably benign Het
Eya3 A G 4: 132,408,159 (GRCm39) T152A possibly damaging Het
Fam234b G A 6: 135,194,009 (GRCm39) V221M probably benign Het
Fbxl13 T A 5: 21,786,981 (GRCm39) T319S probably benign Het
Fchsd2 G T 7: 100,920,831 (GRCm39) V479F possibly damaging Het
Fgd5 T C 6: 92,001,519 (GRCm39) S905P probably benign Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
Fxn C T 19: 24,257,860 (GRCm39) V24I probably benign Het
Gapvd1 C T 2: 34,615,130 (GRCm39) D456N probably benign Het
Gm128 C T 3: 95,147,878 (GRCm39) V139M possibly damaging Het
Gm973 A G 1: 59,565,972 (GRCm39) T64A probably damaging Het
Gtf2h5 T A 17: 6,134,903 (GRCm39) N64K probably damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Haus6 A G 4: 86,513,010 (GRCm39) S386P possibly damaging Het
Hsh2d A G 8: 72,950,638 (GRCm39) probably null Het
Htt T C 5: 34,947,697 (GRCm39) M125T possibly damaging Het
Inpp5d T A 1: 87,635,933 (GRCm39) probably null Het
Ints4 G A 7: 97,140,179 (GRCm39) A137T probably benign Het
Isl2 A G 9: 55,451,636 (GRCm39) D263G probably benign Het
Itgb5 T G 16: 33,705,464 (GRCm39) D251E probably damaging Het
Jpt1 A T 11: 115,389,095 (GRCm39) L116Q probably damaging Het
Kansl2 A G 15: 98,429,775 (GRCm39) S86P possibly damaging Het
Kat2b G T 17: 53,917,953 (GRCm39) R104I possibly damaging Het
Kcna10 C A 3: 107,102,362 (GRCm39) A331D probably benign Het
Kcnk3 G A 5: 30,779,675 (GRCm39) V242M possibly damaging Het
Kdm4a A G 4: 118,017,440 (GRCm39) L542P probably damaging Het
Kif20b T C 19: 34,907,087 (GRCm39) F119L probably damaging Het
Krtcap3 A T 5: 31,409,881 (GRCm39) H149L probably benign Het
Lhx4 A G 1: 155,586,005 (GRCm39) V102A probably damaging Het
Luc7l T A 17: 26,472,156 (GRCm39) probably benign Het
Myh15 G T 16: 48,975,900 (GRCm39) A1323S possibly damaging Het
Myl1 T A 1: 66,965,338 (GRCm39) R151S unknown Het
Naif1 A G 2: 32,342,583 (GRCm39) S45G probably benign Het
Ndst4 C T 3: 125,501,800 (GRCm39) T121I probably damaging Het
Neurod6 C T 6: 55,656,283 (GRCm39) R118Q probably damaging Het
Npl A T 1: 153,413,257 (GRCm39) probably null Het
Nr4a3 T C 4: 48,051,476 (GRCm39) Y77H probably damaging Het
Or4a81 A T 2: 89,619,320 (GRCm39) C125* probably null Het
Or4b1 T G 2: 89,979,831 (GRCm39) D173A probably damaging Het
Pex11a G A 7: 79,392,735 (GRCm39) probably benign Het
Rab44 T A 17: 29,359,470 (GRCm39) F553I unknown Het
Sbf2 C T 7: 109,965,028 (GRCm39) R1002H probably damaging Het
Sectm1a C A 11: 120,960,119 (GRCm39) probably null Het
Slit3 G A 11: 35,577,255 (GRCm39) V1163M possibly damaging Het
Sphk2 G A 7: 45,361,180 (GRCm39) R275C probably damaging Het
Tango6 A G 8: 107,415,466 (GRCm39) S96G probably benign Het
Tg A G 15: 66,568,432 (GRCm39) E1373G probably damaging Het
Traf3ip1 T A 1: 91,435,458 (GRCm39) probably null Het
Trp53 T C 11: 69,479,214 (GRCm39) F131L probably damaging Het
Ttc21a A T 9: 119,788,117 (GRCm39) E847D probably benign Het
Ttn A G 2: 76,602,791 (GRCm39) F18477S probably damaging Het
Usp25 A T 16: 76,910,730 (GRCm39) R929* probably null Het
Usp49 G T 17: 47,983,093 (GRCm39) E33* probably null Het
Vmn1r63 A G 7: 5,806,554 (GRCm39) V26A possibly damaging Het
Vmn1r74 A T 7: 11,581,081 (GRCm39) Y127F possibly damaging Het
Wdfy3 C T 5: 102,105,366 (GRCm39) V154I probably benign Het
Xdh A G 17: 74,220,960 (GRCm39) S590P possibly damaging Het
Zkscan4 A G 13: 21,668,799 (GRCm39) K446E 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
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
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'- CAGCAGTTAAGGCATCCACC -3'
(R):5'- AACTTTATATGCCCCAGTACAGG -3'

Sequencing Primer
(F):5'- GTTAAGGCATCCACCCCTGC -3'
(R):5'- CCAGTACAGGGGAACACCAG -3'
Posted On 2019-10-07