Incidental Mutation 'R2043:Apaf1'
| ID |
225212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apaf1
|
| Ensembl Gene |
ENSMUSG00000019979 |
| Gene Name |
apoptotic peptidase activating factor 1 |
| Synonyms |
6230400I06Rik, Apaf1l |
| MMRRC Submission |
040050-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2043 (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 90872890 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 718
(D718G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000124134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020157]
[ENSMUST00000159110]
[ENSMUST00000162618]
|
| AlphaFold |
O88879 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020157
AA Change: D729G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: D729G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
possibly damaging
Transcript: ENSMUST00000159110
AA Change: D729G
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: D729G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D718G
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: D718G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
0.8211 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
96% (47/49) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam9 |
A |
G |
8: 25,486,669 (GRCm39) |
|
probably null |
Het |
| Adnp2 |
A |
C |
18: 80,171,541 (GRCm39) |
M956R |
probably damaging |
Het |
| Aldh1l1 |
T |
A |
6: 90,534,314 (GRCm39) |
D36E |
probably benign |
Het |
| Ankmy1 |
T |
C |
1: 92,804,249 (GRCm39) |
|
probably benign |
Het |
| Ascc3 |
C |
T |
10: 50,576,616 (GRCm39) |
P857L |
probably damaging |
Het |
| Atp8b1 |
T |
C |
18: 64,738,271 (GRCm39) |
K60R |
possibly damaging |
Het |
| Bub1 |
A |
T |
2: 127,646,140 (GRCm39) |
C947S |
probably damaging |
Het |
| Cacna1c |
C |
T |
6: 118,573,049 (GRCm39) |
G2017D |
probably benign |
Het |
| Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
| Ccdc110 |
T |
C |
8: 46,395,864 (GRCm39) |
M585T |
probably benign |
Het |
| Cep85l |
A |
T |
10: 53,234,224 (GRCm39) |
N51K |
possibly damaging |
Het |
| Cftr |
T |
C |
6: 18,320,934 (GRCm39) |
F1415L |
probably benign |
Het |
| Cln5 |
T |
C |
14: 103,313,380 (GRCm39) |
S211P |
probably damaging |
Het |
| Dcaf5 |
A |
T |
12: 80,386,991 (GRCm39) |
D378E |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,560,509 (GRCm39) |
|
probably benign |
Het |
| Dsn1 |
G |
A |
2: 156,847,273 (GRCm39) |
S55L |
possibly damaging |
Het |
| Eif5b |
T |
C |
1: 38,080,900 (GRCm39) |
F747S |
probably damaging |
Het |
| Entrep3 |
A |
G |
3: 89,092,874 (GRCm39) |
Y251C |
probably damaging |
Het |
| Fbxo25 |
A |
G |
8: 13,971,905 (GRCm39) |
I86V |
probably damaging |
Het |
| Fpr-rs4 |
CAGGAA |
CA |
17: 18,242,596 (GRCm39) |
|
probably null |
Het |
| Glcci1 |
T |
A |
6: 8,582,590 (GRCm39) |
I130K |
probably damaging |
Het |
| Gm5424 |
A |
G |
10: 61,906,990 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
G |
A |
11: 98,557,046 (GRCm39) |
V54M |
possibly damaging |
Het |
| H3c3 |
A |
G |
13: 23,929,278 (GRCm39) |
F68S |
probably damaging |
Het |
| Heatr3 |
T |
A |
8: 88,874,322 (GRCm39) |
|
probably benign |
Het |
| Hspa13 |
A |
G |
16: 75,555,156 (GRCm39) |
L310S |
probably benign |
Het |
| Il6st |
A |
C |
13: 112,616,753 (GRCm39) |
Q100P |
probably benign |
Het |
| Ly6g6e |
G |
A |
17: 35,296,840 (GRCm39) |
R27Q |
possibly damaging |
Het |
| Mis18bp1 |
A |
T |
12: 65,196,192 (GRCm39) |
I524K |
probably damaging |
Het |
| Myo18a |
T |
C |
11: 77,714,189 (GRCm39) |
I761T |
probably damaging |
Het |
| Mypop |
T |
C |
7: 18,734,944 (GRCm39) |
|
probably benign |
Het |
| Or51ag1 |
A |
G |
7: 103,156,150 (GRCm39) |
M1T |
probably null |
Het |
| Pcdh20 |
G |
A |
14: 88,704,591 (GRCm39) |
T903I |
probably benign |
Het |
| Pdk4 |
A |
T |
6: 5,485,502 (GRCm39) |
C396S |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,628,919 (GRCm39) |
V699A |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,498,530 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
A |
12: 55,723,811 (GRCm39) |
I1572L |
probably damaging |
Het |
| Rasgrf2 |
T |
A |
13: 92,167,351 (GRCm39) |
M241L |
possibly damaging |
Het |
| Ryr1 |
C |
T |
7: 28,759,056 (GRCm39) |
R3374H |
probably damaging |
Het |
| Slc24a2 |
A |
T |
4: 86,914,882 (GRCm39) |
M519K |
probably damaging |
Het |
| Smg9 |
T |
A |
7: 24,105,001 (GRCm39) |
I67N |
possibly damaging |
Het |
| Spart |
G |
A |
3: 55,034,969 (GRCm39) |
A452T |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,648,453 (GRCm39) |
F4686Y |
probably benign |
Het |
| Zfp146 |
T |
C |
7: 29,861,664 (GRCm39) |
K126R |
possibly damaging |
Het |
| Zfp386 |
T |
A |
12: 116,022,781 (GRCm39) |
D131E |
probably benign |
Het |
| Zfp423 |
T |
C |
8: 88,509,246 (GRCm39) |
D366G |
probably damaging |
Het |
| Zfp729a |
T |
C |
13: 67,769,291 (GRCm39) |
K313E |
probably damaging |
Het |
| Zfp955a |
G |
A |
17: 33,461,527 (GRCm39) |
H202Y |
possibly damaging |
Het |
|
| Other mutations in Apaf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACCACAGACCATAAGGGC -3'
(R):5'- CCCGTCGGCAGTTTGATTTAC -3'
Sequencing Primer
(F):5'- GACCATAAGGGCTTCTCTAAAGTTAG -3'
(R):5'- CCACCTTGATTGCAGTTTCAAAGGG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation