Incidental Mutation 'R5497:Apaf1'
| ID |
432428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Apaf1
|
| Ensembl Gene |
ENSMUSG00000019979 |
| Gene Name |
apoptotic peptidase activating factor 1 |
| Synonyms |
6230400I06Rik, Apaf1l |
| MMRRC Submission |
043058-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5497 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
90825173-90918632 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 90835518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 1098
(A1098V)
|
| 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: A1109V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000020157
Gene: ENSMUSG00000019979
AA Change: A1109V
| 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 |
probably damaging
Transcript: ENSMUST00000159110
AA Change: A1109V
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125291
Gene: ENSMUSG00000019979
AA Change: A1109V
| 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 |
noncoding transcript
Transcript: ENSMUST00000159457
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161095
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162618
AA Change: A1098V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000124134
Gene: ENSMUSG00000019979
AA Change: A1098V
| 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 |
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 91.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,056,360 (GRCm39) |
M800K |
probably benign |
Het |
| Abca9 |
G |
A |
11: 110,021,518 (GRCm39) |
A1064V |
probably damaging |
Het |
| Acsm2 |
A |
T |
7: 119,172,543 (GRCm39) |
T129S |
possibly damaging |
Het |
| Adamts9 |
A |
T |
6: 92,831,346 (GRCm39) |
C755S |
probably damaging |
Het |
| Adarb1 |
T |
C |
10: 77,161,723 (GRCm39) |
D2G |
probably damaging |
Het |
| Asap3 |
A |
G |
4: 135,966,533 (GRCm39) |
H537R |
probably benign |
Het |
| Atp2a2 |
C |
T |
5: 122,596,232 (GRCm39) |
C887Y |
probably damaging |
Het |
| Atp6v0a1 |
G |
A |
11: 100,920,011 (GRCm39) |
V215M |
probably damaging |
Het |
| Cacng8 |
A |
G |
7: 3,464,069 (GRCm39) |
E407G |
probably benign |
Het |
| Capn8 |
G |
A |
1: 182,447,745 (GRCm39) |
E535K |
probably benign |
Het |
| Cebpe |
A |
G |
14: 54,948,052 (GRCm39) |
F264L |
probably benign |
Het |
| Ces1c |
A |
C |
8: 93,857,343 (GRCm39) |
N79K |
possibly damaging |
Het |
| Cfap58 |
T |
G |
19: 48,017,548 (GRCm39) |
S803A |
probably benign |
Het |
| Cpa1 |
A |
G |
6: 30,640,729 (GRCm39) |
T124A |
probably benign |
Het |
| Csmd1 |
A |
G |
8: 16,135,195 (GRCm39) |
S1654P |
probably benign |
Het |
| Dmbt1 |
A |
T |
7: 130,665,133 (GRCm39) |
|
probably benign |
Het |
| Eif3e |
T |
C |
15: 43,134,366 (GRCm39) |
Y127C |
probably damaging |
Het |
| Fhip2a |
G |
C |
19: 57,369,583 (GRCm39) |
|
probably null |
Het |
| Galnt5 |
T |
C |
2: 57,915,340 (GRCm39) |
M632T |
probably damaging |
Het |
| Gja8 |
A |
G |
3: 96,827,513 (GRCm39) |
S50P |
probably damaging |
Het |
| Gon7 |
A |
G |
12: 102,720,363 (GRCm39) |
S90P |
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,187,133 (GRCm39) |
V1096I |
probably benign |
Het |
| Gxylt2 |
A |
G |
6: 100,764,290 (GRCm39) |
N325S |
probably benign |
Het |
| H2-Ob |
A |
G |
17: 34,460,144 (GRCm39) |
D85G |
probably benign |
Het |
| Heatr1 |
T |
A |
13: 12,435,945 (GRCm39) |
I1161N |
possibly damaging |
Het |
| Hjurp |
G |
A |
1: 88,194,042 (GRCm39) |
H289Y |
possibly damaging |
Het |
| Hsd3b7 |
A |
G |
7: 127,401,060 (GRCm39) |
Y99C |
probably damaging |
Het |
| Ifnar1 |
T |
G |
16: 91,302,252 (GRCm39) |
Y21D |
probably benign |
Het |
| Isoc2b |
C |
T |
7: 4,853,782 (GRCm39) |
V131I |
probably benign |
Het |
| Klc3 |
T |
C |
7: 19,128,595 (GRCm39) |
I500V |
probably benign |
Het |
| Lrp5 |
C |
A |
19: 3,652,319 (GRCm39) |
G1184W |
probably damaging |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Map3k7 |
T |
C |
4: 31,991,719 (GRCm39) |
F319S |
possibly damaging |
Het |
| Muc5ac |
A |
G |
7: 141,361,380 (GRCm39) |
T1564A |
probably damaging |
Het |
| Nptx2 |
A |
T |
5: 144,492,999 (GRCm39) |
D362V |
probably damaging |
Het |
| Nutf2-ps1 |
A |
T |
19: 53,577,265 (GRCm39) |
I52N |
probably damaging |
Het |
| Or2aj4 |
C |
T |
16: 19,385,080 (GRCm39) |
M184I |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,447,628 (GRCm39) |
Y2255F |
possibly damaging |
Het |
| Primpol |
A |
T |
8: 47,045,657 (GRCm39) |
Y308* |
probably null |
Het |
| Retreg2 |
G |
A |
1: 75,121,633 (GRCm39) |
V219I |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rph3a |
T |
A |
5: 121,080,253 (GRCm39) |
E675V |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,720,587 (GRCm39) |
M2687K |
probably null |
Het |
| Shank2 |
A |
G |
7: 143,963,271 (GRCm39) |
D293G |
probably damaging |
Het |
| Snx6 |
A |
G |
12: 54,803,846 (GRCm39) |
V154A |
probably damaging |
Het |
| Srm |
G |
T |
4: 148,678,566 (GRCm39) |
Q264H |
probably benign |
Het |
| Styk1 |
A |
T |
6: 131,281,670 (GRCm39) |
I316N |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 75,927,163 (GRCm39) |
N103S |
probably benign |
Het |
| Tas2r105 |
G |
A |
6: 131,663,805 (GRCm39) |
|
probably null |
Het |
| Tbcel |
T |
A |
9: 42,363,041 (GRCm39) |
M1L |
possibly damaging |
Het |
| Tlr3 |
C |
T |
8: 45,851,851 (GRCm39) |
D349N |
possibly damaging |
Het |
| Tm9sf3 |
T |
C |
19: 41,203,555 (GRCm39) |
S574G |
probably benign |
Het |
| Usp31 |
A |
T |
7: 121,250,824 (GRCm39) |
V783E |
probably damaging |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,906 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Zfp980 |
A |
G |
4: 145,428,017 (GRCm39) |
K249E |
probably 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 |
|
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 |
|
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'- TGCACAGTGACTCATGCAG -3'
(R):5'- GGGCTTTGCACTCACTAAAC -3'
Sequencing Primer
(F):5'- ACAGTGACTCATGCAGGTCCC -3'
(R):5'- CTTGAAGTTCTACGTAGCCCAAG -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation