Incidental Mutation 'R9729:Casp8ap2'
ID |
731211 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8ap2
|
Ensembl Gene |
ENSMUSG00000028282 |
Gene Name |
caspase 8 associated protein 2 |
Synonyms |
FLASH, D4Ertd659e |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9729 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32643807 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 960
(V960E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029950
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
AlphaFold |
Q9WUF3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029950
AA Change: V960E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: V960E
Domain | Start | End | E-Value | Type |
coiled coil region
|
68 |
142 |
N/A |
INTRINSIC |
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
low complexity region
|
458 |
477 |
N/A |
INTRINSIC |
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
low complexity region
|
1250 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1360 |
1377 |
N/A |
INTRINSIC |
low complexity region
|
1458 |
1470 |
N/A |
INTRINSIC |
low complexity region
|
1477 |
1498 |
N/A |
INTRINSIC |
low complexity region
|
1882 |
1895 |
N/A |
INTRINSIC |
PDB:2LR8|A
|
1896 |
1962 |
1e-31 |
PDB |
Blast:SANT
|
1905 |
1955 |
2e-21 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108178
|
SMART Domains |
Protein: ENSMUSP00000103813 Gene: ENSMUSG00000028282
Domain | Start | End | E-Value | Type |
PDB:2LR8|A
|
126 |
190 |
4e-26 |
PDB |
Blast:SANT
|
139 |
183 |
4e-19 |
BLAST |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000178925
AA Change: V960E
PolyPhen 2
Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: V960E
Domain | Start | End | E-Value | Type |
coiled coil region
|
68 |
142 |
N/A |
INTRINSIC |
low complexity region
|
292 |
303 |
N/A |
INTRINSIC |
low complexity region
|
458 |
477 |
N/A |
INTRINSIC |
low complexity region
|
1124 |
1135 |
N/A |
INTRINSIC |
low complexity region
|
1250 |
1268 |
N/A |
INTRINSIC |
low complexity region
|
1360 |
1377 |
N/A |
INTRINSIC |
low complexity region
|
1458 |
1470 |
N/A |
INTRINSIC |
low complexity region
|
1477 |
1498 |
N/A |
INTRINSIC |
low complexity region
|
1882 |
1895 |
N/A |
INTRINSIC |
PDB:2LR8|A
|
1896 |
1962 |
1e-31 |
PDB |
Blast:SANT
|
1905 |
1955 |
2e-21 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is highly similar to FLASH, a mouse apoptotic protein identified by its interaction with the death-effector domain (DED) of caspase 8. Studies of FLASH protein suggested that this protein may be a component of the death-inducing signaling complex that includes Fas receptor, Fas-binding adapter FADD, and caspase 8, and plays a regulatory role in Fas-mediated apoptosis. Alternative splicing results in multiple transcript variants encoding the same protein.[provided by RefSeq, Nov 2008] PHENOTYPE: Mice homozygous for disruption of this gene die before implantation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833439L19Rik |
A |
T |
13: 54,700,519 (GRCm39) |
M273K |
probably benign |
Het |
Aar2 |
A |
G |
2: 156,393,361 (GRCm39) |
D250G |
probably benign |
Het |
Acly |
T |
A |
11: 100,407,711 (GRCm39) |
Y213F |
probably benign |
Het |
Adgrg5 |
G |
A |
8: 95,668,133 (GRCm39) |
M399I |
|
Het |
Adhfe1 |
T |
C |
1: 9,623,634 (GRCm39) |
L95P |
probably damaging |
Het |
Ano7 |
G |
A |
1: 93,322,180 (GRCm39) |
C396Y |
probably damaging |
Het |
Apob |
T |
A |
12: 8,066,125 (GRCm39) |
Y4365N |
probably damaging |
Het |
Arfgap3 |
C |
T |
15: 83,192,366 (GRCm39) |
R411H |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,661,818 (GRCm39) |
Y127C |
probably damaging |
Het |
Cadps2 |
T |
C |
6: 23,382,982 (GRCm39) |
T793A |
probably benign |
Het |
Cd200l1 |
G |
T |
16: 45,264,237 (GRCm39) |
T107N |
possibly damaging |
Het |
Cdkl3 |
A |
G |
11: 51,895,770 (GRCm39) |
T6A |
probably benign |
Het |
Cdkn2aip |
T |
C |
8: 48,166,654 (GRCm39) |
D51G |
probably benign |
Het |
Cdpf1 |
G |
T |
15: 85,692,527 (GRCm39) |
S52* |
probably null |
Het |
Celf5 |
T |
A |
10: 81,303,925 (GRCm39) |
D177V |
probably damaging |
Het |
Cep164 |
A |
G |
9: 45,682,897 (GRCm39) |
V931A |
probably damaging |
Het |
Cog6 |
T |
C |
3: 52,900,907 (GRCm39) |
D457G |
probably damaging |
Het |
Col4a2 |
G |
T |
8: 11,496,157 (GRCm39) |
V1593L |
probably benign |
Het |
Dlg5 |
C |
G |
14: 24,204,681 (GRCm39) |
M1287I |
probably benign |
Het |
Dmrt1 |
T |
C |
19: 25,523,362 (GRCm39) |
S238P |
probably benign |
Het |
Dpysl2 |
A |
G |
14: 67,099,927 (GRCm39) |
M103T |
probably benign |
Het |
Emsy |
C |
A |
7: 98,262,256 (GRCm39) |
A608S |
probably benign |
Het |
Entr1 |
A |
G |
2: 26,278,645 (GRCm39) |
F21S |
unknown |
Het |
Entrep2 |
C |
T |
7: 64,806,056 (GRCm39) |
G6S |
probably benign |
Het |
Exoc5 |
A |
T |
14: 49,253,086 (GRCm39) |
C576S |
probably damaging |
Het |
F830016B08Rik |
G |
A |
18: 60,433,558 (GRCm39) |
V214M |
possibly damaging |
Het |
Fignl1 |
A |
G |
11: 11,752,219 (GRCm39) |
S279P |
probably benign |
Het |
Gimap1 |
A |
G |
6: 48,719,386 (GRCm39) |
R71G |
unknown |
Het |
Gm26727 |
A |
T |
2: 67,263,263 (GRCm39) |
M88K |
probably damaging |
Het |
Gm45861 |
T |
A |
8: 28,045,436 (GRCm39) |
W1066R |
unknown |
Het |
Gpr15 |
A |
G |
16: 58,538,249 (GRCm39) |
L280S |
possibly damaging |
Het |
Grin1 |
C |
T |
2: 25,187,422 (GRCm39) |
W629* |
probably null |
Het |
Grk5 |
C |
T |
19: 61,078,467 (GRCm39) |
P508L |
possibly damaging |
Het |
Hgf |
A |
T |
5: 16,766,029 (GRCm39) |
D55V |
probably damaging |
Het |
Hipk1 |
T |
A |
3: 103,668,890 (GRCm39) |
D502V |
probably damaging |
Het |
Kmt2c |
T |
C |
5: 25,489,758 (GRCm39) |
K4394E |
probably damaging |
Het |
Llgl2 |
A |
G |
11: 115,740,467 (GRCm39) |
T388A |
probably damaging |
Het |
Lsm14a |
G |
T |
7: 34,088,898 (GRCm39) |
S2R |
probably damaging |
Het |
Madd |
A |
T |
2: 91,000,544 (GRCm39) |
M507K |
possibly damaging |
Het |
Map2k3 |
G |
T |
11: 60,837,472 (GRCm39) |
V191L |
|
Het |
Mapk8ip1 |
A |
G |
2: 92,217,060 (GRCm39) |
S421P |
probably damaging |
Het |
Marchf7 |
C |
T |
2: 60,064,785 (GRCm39) |
R354* |
probably null |
Het |
Myc |
T |
G |
15: 61,859,935 (GRCm39) |
C204G |
probably damaging |
Het |
Nampt |
A |
G |
12: 32,900,528 (GRCm39) |
H491R |
possibly damaging |
Het |
Noct |
C |
T |
3: 51,157,267 (GRCm39) |
Q202* |
probably null |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Or10b1 |
T |
A |
10: 78,355,949 (GRCm39) |
F169Y |
probably damaging |
Het |
Osbpl10 |
G |
A |
9: 115,052,804 (GRCm39) |
V451M |
probably damaging |
Het |
Osr2 |
T |
A |
15: 35,303,061 (GRCm39) |
F312Y |
probably benign |
Het |
Parp16 |
A |
T |
9: 65,137,097 (GRCm39) |
I108F |
possibly damaging |
Het |
Parp4 |
A |
G |
14: 56,885,888 (GRCm39) |
T1656A |
unknown |
Het |
Pnpla8 |
A |
G |
12: 44,330,657 (GRCm39) |
I374V |
probably benign |
Het |
Prss23 |
T |
C |
7: 89,159,931 (GRCm39) |
N46S |
probably benign |
Het |
Ptger2 |
T |
C |
14: 45,226,476 (GRCm39) |
W19R |
possibly damaging |
Het |
Rbl2 |
T |
C |
8: 91,805,527 (GRCm39) |
S195P |
probably damaging |
Het |
Rnf169 |
C |
T |
7: 99,575,477 (GRCm39) |
V373I |
probably damaging |
Het |
Sclt1 |
C |
A |
3: 41,629,837 (GRCm39) |
E325* |
probably null |
Het |
Sergef |
C |
T |
7: 46,284,913 (GRCm39) |
S43N |
probably benign |
Het |
Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,777 (GRCm39) |
|
probably benign |
Het |
Slc3a2 |
T |
C |
19: 8,685,370 (GRCm39) |
D472G |
probably damaging |
Het |
Slc43a3 |
T |
C |
2: 84,780,800 (GRCm39) |
F342L |
probably benign |
Het |
Slc44a4 |
A |
T |
17: 35,140,670 (GRCm39) |
I288F |
probably benign |
Het |
Snupn |
T |
A |
9: 56,877,915 (GRCm39) |
N151K |
possibly damaging |
Het |
Srbd1 |
A |
T |
17: 86,437,550 (GRCm39) |
D264E |
probably benign |
Het |
Srpra |
A |
T |
9: 35,125,569 (GRCm39) |
T378S |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,141,762 (GRCm39) |
D613G |
possibly damaging |
Het |
Sycp2l |
C |
T |
13: 41,326,132 (GRCm39) |
P246L |
|
Het |
Tcf20 |
T |
C |
15: 82,736,037 (GRCm39) |
R1805G |
probably benign |
Het |
Tob1 |
T |
A |
11: 94,104,880 (GRCm39) |
F139I |
probably damaging |
Het |
Traj9 |
A |
G |
14: 54,446,871 (GRCm39) |
T8A |
unknown |
Het |
Trank1 |
G |
T |
9: 111,220,537 (GRCm39) |
D2425Y |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,738,071 (GRCm39) |
S4202L |
unknown |
Het |
Ttn |
A |
T |
2: 76,577,267 (GRCm39) |
M24542K |
probably damaging |
Het |
Vcam1 |
T |
C |
3: 115,911,105 (GRCm39) |
Y431C |
probably damaging |
Het |
Vcpkmt |
G |
A |
12: 69,627,936 (GRCm39) |
R175C |
probably damaging |
Het |
Vmn2r51 |
A |
T |
7: 9,839,479 (GRCm39) |
D36E |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,917 (GRCm39) |
E779G |
probably damaging |
Het |
Zfp831 |
T |
C |
2: 174,487,938 (GRCm39) |
L871P |
possibly damaging |
Het |
|
Other mutations in Casp8ap2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00686:Casp8ap2
|
APN |
4 |
32,641,433 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00714:Casp8ap2
|
APN |
4 |
32,649,192 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00754:Casp8ap2
|
APN |
4 |
32,641,036 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00954:Casp8ap2
|
APN |
4 |
32,645,403 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00970:Casp8ap2
|
APN |
4 |
32,646,182 (GRCm39) |
missense |
probably benign |
|
IGL01534:Casp8ap2
|
APN |
4 |
32,648,134 (GRCm39) |
splice site |
probably benign |
|
IGL01596:Casp8ap2
|
APN |
4 |
32,646,365 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01686:Casp8ap2
|
APN |
4 |
32,641,294 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL02002:Casp8ap2
|
APN |
4 |
32,639,391 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02273:Casp8ap2
|
APN |
4 |
32,643,974 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02510:Casp8ap2
|
APN |
4 |
32,639,704 (GRCm39) |
missense |
probably benign |
0.05 |
IGL02600:Casp8ap2
|
APN |
4 |
32,630,246 (GRCm39) |
missense |
probably null |
1.00 |
IGL02929:Casp8ap2
|
APN |
4 |
32,624,105 (GRCm39) |
utr 5 prime |
probably benign |
|
F5770:Casp8ap2
|
UTSW |
4 |
32,639,944 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02988:Casp8ap2
|
UTSW |
4 |
32,644,590 (GRCm39) |
missense |
probably benign |
0.14 |
R0023:Casp8ap2
|
UTSW |
4 |
32,640,185 (GRCm39) |
missense |
probably damaging |
0.99 |
R0027:Casp8ap2
|
UTSW |
4 |
32,643,810 (GRCm39) |
missense |
probably benign |
0.01 |
R0090:Casp8ap2
|
UTSW |
4 |
32,640,327 (GRCm39) |
missense |
probably damaging |
1.00 |
R0117:Casp8ap2
|
UTSW |
4 |
32,640,817 (GRCm39) |
missense |
probably benign |
0.00 |
R0144:Casp8ap2
|
UTSW |
4 |
32,643,797 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0268:Casp8ap2
|
UTSW |
4 |
32,644,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R0344:Casp8ap2
|
UTSW |
4 |
32,644,079 (GRCm39) |
missense |
probably damaging |
0.99 |
R0555:Casp8ap2
|
UTSW |
4 |
32,640,381 (GRCm39) |
missense |
probably damaging |
1.00 |
R1051:Casp8ap2
|
UTSW |
4 |
32,640,790 (GRCm39) |
missense |
probably benign |
0.28 |
R1165:Casp8ap2
|
UTSW |
4 |
32,640,563 (GRCm39) |
missense |
probably benign |
0.01 |
R1243:Casp8ap2
|
UTSW |
4 |
32,645,687 (GRCm39) |
missense |
probably benign |
0.03 |
R1311:Casp8ap2
|
UTSW |
4 |
32,648,111 (GRCm39) |
missense |
probably damaging |
0.98 |
R1337:Casp8ap2
|
UTSW |
4 |
32,645,721 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1471:Casp8ap2
|
UTSW |
4 |
32,639,386 (GRCm39) |
nonsense |
probably null |
|
R1497:Casp8ap2
|
UTSW |
4 |
32,639,938 (GRCm39) |
missense |
probably benign |
0.00 |
R1521:Casp8ap2
|
UTSW |
4 |
32,631,867 (GRCm39) |
missense |
probably damaging |
1.00 |
R1588:Casp8ap2
|
UTSW |
4 |
32,640,541 (GRCm39) |
missense |
probably benign |
0.00 |
R1625:Casp8ap2
|
UTSW |
4 |
32,648,068 (GRCm39) |
missense |
probably benign |
0.04 |
R1731:Casp8ap2
|
UTSW |
4 |
32,641,442 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1899:Casp8ap2
|
UTSW |
4 |
32,643,647 (GRCm39) |
missense |
probably damaging |
0.98 |
R2000:Casp8ap2
|
UTSW |
4 |
32,634,874 (GRCm39) |
missense |
probably damaging |
1.00 |
R2021:Casp8ap2
|
UTSW |
4 |
32,644,560 (GRCm39) |
missense |
probably benign |
0.05 |
R2022:Casp8ap2
|
UTSW |
4 |
32,644,560 (GRCm39) |
missense |
probably benign |
0.05 |
R2023:Casp8ap2
|
UTSW |
4 |
32,644,560 (GRCm39) |
missense |
probably benign |
0.05 |
R2088:Casp8ap2
|
UTSW |
4 |
32,631,126 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Casp8ap2
|
UTSW |
4 |
32,644,727 (GRCm39) |
missense |
probably benign |
0.00 |
R2128:Casp8ap2
|
UTSW |
4 |
32,640,142 (GRCm39) |
missense |
probably benign |
0.06 |
R2129:Casp8ap2
|
UTSW |
4 |
32,640,142 (GRCm39) |
missense |
probably benign |
0.06 |
R2305:Casp8ap2
|
UTSW |
4 |
32,646,411 (GRCm39) |
missense |
probably damaging |
1.00 |
R2316:Casp8ap2
|
UTSW |
4 |
32,643,781 (GRCm39) |
missense |
probably benign |
0.31 |
R2919:Casp8ap2
|
UTSW |
4 |
32,645,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R4091:Casp8ap2
|
UTSW |
4 |
32,643,611 (GRCm39) |
missense |
probably damaging |
1.00 |
R4357:Casp8ap2
|
UTSW |
4 |
32,646,150 (GRCm39) |
missense |
probably benign |
0.00 |
R4807:Casp8ap2
|
UTSW |
4 |
32,644,505 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4828:Casp8ap2
|
UTSW |
4 |
32,639,807 (GRCm39) |
missense |
probably benign |
|
R4908:Casp8ap2
|
UTSW |
4 |
32,639,905 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4945:Casp8ap2
|
UTSW |
4 |
32,631,163 (GRCm39) |
missense |
possibly damaging |
0.57 |
R4962:Casp8ap2
|
UTSW |
4 |
32,640,554 (GRCm39) |
missense |
probably damaging |
0.99 |
R6014:Casp8ap2
|
UTSW |
4 |
32,641,400 (GRCm39) |
missense |
probably damaging |
0.97 |
R6092:Casp8ap2
|
UTSW |
4 |
32,639,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R6257:Casp8ap2
|
UTSW |
4 |
32,641,364 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6289:Casp8ap2
|
UTSW |
4 |
32,639,590 (GRCm39) |
missense |
probably damaging |
1.00 |
R6482:Casp8ap2
|
UTSW |
4 |
32,634,813 (GRCm39) |
missense |
probably damaging |
1.00 |
R6496:Casp8ap2
|
UTSW |
4 |
32,641,553 (GRCm39) |
missense |
probably benign |
0.05 |
R6515:Casp8ap2
|
UTSW |
4 |
32,646,423 (GRCm39) |
missense |
possibly damaging |
0.64 |
R7015:Casp8ap2
|
UTSW |
4 |
32,644,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R7033:Casp8ap2
|
UTSW |
4 |
32,639,392 (GRCm39) |
missense |
probably damaging |
1.00 |
R7072:Casp8ap2
|
UTSW |
4 |
32,644,766 (GRCm39) |
missense |
probably damaging |
1.00 |
R7448:Casp8ap2
|
UTSW |
4 |
32,643,974 (GRCm39) |
missense |
possibly damaging |
0.84 |
R7944:Casp8ap2
|
UTSW |
4 |
32,645,909 (GRCm39) |
missense |
probably benign |
0.12 |
R7945:Casp8ap2
|
UTSW |
4 |
32,645,909 (GRCm39) |
missense |
probably benign |
0.12 |
R8170:Casp8ap2
|
UTSW |
4 |
32,615,490 (GRCm39) |
splice site |
probably benign |
|
R8179:Casp8ap2
|
UTSW |
4 |
32,643,939 (GRCm39) |
nonsense |
probably null |
|
R8207:Casp8ap2
|
UTSW |
4 |
32,646,446 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8263:Casp8ap2
|
UTSW |
4 |
32,644,072 (GRCm39) |
missense |
probably damaging |
1.00 |
R8298:Casp8ap2
|
UTSW |
4 |
32,640,429 (GRCm39) |
missense |
probably benign |
0.30 |
R9441:Casp8ap2
|
UTSW |
4 |
32,645,873 (GRCm39) |
missense |
probably benign |
0.00 |
R9455:Casp8ap2
|
UTSW |
4 |
32,643,924 (GRCm39) |
missense |
possibly damaging |
0.85 |
V7580:Casp8ap2
|
UTSW |
4 |
32,639,944 (GRCm39) |
missense |
probably benign |
0.00 |
X0018:Casp8ap2
|
UTSW |
4 |
32,643,738 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTTCAAGAGTCAGTCTGATC -3'
(R):5'- ACATGTTTACCTAGCAACCGTAAC -3'
Sequencing Primer
(F):5'- CCAGTTCCCAAATTTGACAAATG -3'
(R):5'- GTTTACCTAGCAACCGTAACATATGC -3'
|
Posted On |
2022-10-06 |