Incidental Mutation 'R8298:Casp8ap2'
| ID |
639064 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
067786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8298 (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 32640429 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 494
(H494Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
| AlphaFold |
Q9WUF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029950
AA Change: H494Q
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: H494Q
| 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 |
probably benign
Transcript: ENSMUST00000178925
AA Change: H494Q
PolyPhen 2
Score 0.303 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: H494Q
| 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: 99.1%
|
| Validation Efficiency |
97% (62/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930453N24Rik |
A |
G |
16: 64,586,695 (GRCm39) |
L343P |
probably benign |
Het |
| Aak1 |
T |
A |
6: 86,902,061 (GRCm39) |
F77I |
possibly damaging |
Het |
| Abca3 |
T |
C |
17: 24,604,375 (GRCm39) |
L582P |
probably damaging |
Het |
| Acat1 |
A |
T |
9: 53,505,724 (GRCm39) |
S136R |
probably damaging |
Het |
| Adamts2 |
T |
C |
11: 50,667,958 (GRCm39) |
F507L |
possibly damaging |
Het |
| Adcy3 |
G |
A |
12: 4,256,482 (GRCm39) |
A763T |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,534,033 (GRCm39) |
C5849* |
probably null |
Het |
| Adrb2 |
A |
T |
18: 62,311,753 (GRCm39) |
N357K |
probably benign |
Het |
| Ak9 |
A |
G |
10: 41,265,054 (GRCm39) |
E404G |
|
Het |
| Akap13 |
T |
C |
7: 75,397,552 (GRCm39) |
L2576P |
probably damaging |
Het |
| Armcx5 |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
AGACAAAGCTAAAGAGGTCTGTGTCAAATCCAGGGCTGGGGACAAAGCTA |
X: 134,646,453 (GRCm39) |
|
probably benign |
Het |
| Arv1 |
A |
G |
8: 125,455,111 (GRCm39) |
Y108C |
probably damaging |
Het |
| Ccdc88b |
A |
G |
19: 6,827,649 (GRCm39) |
L951P |
probably damaging |
Het |
| D830039M14Rik |
A |
T |
10: 61,311,362 (GRCm39) |
M160K |
noncoding transcript |
Het |
| Dbf4 |
A |
G |
5: 8,462,115 (GRCm39) |
|
probably benign |
Het |
| Dennd4a |
A |
G |
9: 64,814,157 (GRCm39) |
D1458G |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,514,654 (GRCm39) |
K1422R |
probably benign |
Het |
| Dyrk3 |
C |
T |
1: 131,057,112 (GRCm39) |
D354N |
probably damaging |
Het |
| Epha3 |
T |
A |
16: 63,386,961 (GRCm39) |
I892F |
probably benign |
Het |
| Evi5 |
G |
A |
5: 107,964,731 (GRCm39) |
S317L |
possibly damaging |
Het |
| Evl |
C |
T |
12: 108,619,232 (GRCm39) |
P76S |
probably benign |
Het |
| Fyb2 |
A |
C |
4: 104,806,028 (GRCm39) |
E369D |
probably damaging |
Het |
| Gm10000 |
T |
C |
12: 104,442,436 (GRCm39) |
|
probably benign |
Het |
| Gm1979 |
T |
C |
5: 26,206,148 (GRCm39) |
N190S |
probably damaging |
Het |
| Gm3633 |
T |
C |
14: 42,462,675 (GRCm39) |
E72G |
|
Het |
| Gm5414 |
T |
C |
15: 101,532,605 (GRCm39) |
Y506C |
unknown |
Het |
| Gm572 |
T |
A |
4: 148,742,550 (GRCm39) |
H96Q |
possibly damaging |
Het |
| Gml |
T |
C |
15: 74,685,541 (GRCm39) |
E148G |
probably damaging |
Het |
| Got1l1 |
T |
C |
8: 27,688,586 (GRCm39) |
D255G |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,327,015 (GRCm39) |
N4785D |
probably damaging |
Het |
| Kcnk12 |
A |
T |
17: 88,104,713 (GRCm39) |
F57Y |
probably damaging |
Het |
| Klhdc9 |
C |
A |
1: 171,186,429 (GRCm39) |
G336C |
probably damaging |
Het |
| Kprp |
T |
C |
3: 92,732,607 (GRCm39) |
T148A |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,658,910 (GRCm39) |
R2022Q |
probably benign |
Het |
| Lelp1 |
A |
T |
3: 92,042,927 (GRCm39) |
S41T |
unknown |
Het |
| Lnx2 |
A |
T |
5: 146,961,327 (GRCm39) |
M535K |
probably benign |
Het |
| Mmp9 |
T |
A |
2: 164,792,279 (GRCm39) |
F294L |
probably null |
Het |
| Myo7a |
T |
C |
7: 97,747,541 (GRCm39) |
Y97C |
probably damaging |
Het |
| Nav2 |
T |
C |
7: 49,204,009 (GRCm39) |
|
probably null |
Het |
| Ndufaf3 |
T |
C |
9: 108,444,120 (GRCm39) |
T3A |
probably benign |
Het |
| Nrxn1 |
A |
G |
17: 91,011,597 (GRCm39) |
I344T |
probably damaging |
Het |
| Or1j1 |
T |
C |
2: 36,703,038 (GRCm39) |
E22G |
probably benign |
Het |
| Or5ap2 |
T |
C |
2: 85,680,533 (GRCm39) |
S246P |
probably damaging |
Het |
| Or5w14 |
A |
T |
2: 87,541,376 (GRCm39) |
S291R |
probably damaging |
Het |
| Pccb |
T |
C |
9: 100,867,885 (GRCm39) |
D384G |
probably damaging |
Het |
| Plekhg3 |
C |
T |
12: 76,623,852 (GRCm39) |
H1032Y |
probably damaging |
Het |
| Ppfia3 |
A |
G |
7: 45,009,618 (GRCm39) |
S125P |
probably damaging |
Het |
| Prl7a2 |
T |
C |
13: 27,844,994 (GRCm39) |
M131V |
probably benign |
Het |
| Prmt3 |
A |
G |
7: 49,507,186 (GRCm39) |
T517A |
probably benign |
Het |
| Prpf4b |
A |
G |
13: 35,072,166 (GRCm39) |
H491R |
unknown |
Het |
| Rhot1 |
T |
A |
11: 80,137,502 (GRCm39) |
C335S |
probably benign |
Het |
| Robo1 |
C |
T |
16: 72,769,020 (GRCm39) |
|
probably benign |
Het |
| Samd3 |
A |
T |
10: 26,121,468 (GRCm39) |
D195V |
probably damaging |
Het |
| Sh3gl2 |
T |
A |
4: 85,297,647 (GRCm39) |
D208E |
possibly damaging |
Het |
| Spta1 |
A |
T |
1: 174,074,953 (GRCm39) |
D2393V |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,605,840 (GRCm39) |
L785P |
probably damaging |
Het |
| Tmem25 |
C |
T |
9: 44,710,116 (GRCm39) |
|
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,038,753 (GRCm39) |
Y780H |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,557,511 (GRCm39) |
W29861L |
probably damaging |
Het |
| Usp1 |
T |
A |
4: 98,819,136 (GRCm39) |
D199E |
probably damaging |
Het |
| Vmn2r40 |
A |
G |
7: 8,911,148 (GRCm39) |
I715T |
|
Het |
| Zfp169 |
G |
A |
13: 48,651,853 (GRCm39) |
Q68* |
probably null |
Het |
| Zfp418 |
T |
A |
7: 7,185,814 (GRCm39) |
Y592* |
probably null |
Het |
| Zfp712 |
A |
G |
13: 67,188,976 (GRCm39) |
V517A |
probably benign |
Het |
| Zfp934 |
A |
T |
13: 62,666,295 (GRCm39) |
H146Q |
|
Het |
| Zgrf1 |
T |
C |
3: 127,408,878 (GRCm39) |
S1662P |
probably 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 |
|
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 |
|
R9729:Casp8ap2
|
UTSW |
4 |
32,643,807 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
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'- CCGCACTCCAAGGAAGTTAG -3'
(R):5'- GTGGGTTATCTTGACAAGCAGG -3'
Sequencing Primer
(F):5'- CACTCCAAGGAAGTTAGTGTTGCAC -3'
(R):5'- GTTAAGTTCAGTTTTTCCATGAAGC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation