Incidental Mutation 'R9441:Casp8ap2'
ID |
713630 |
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 # |
R9441 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32645873 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1649
(K1649E)
|
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: K1649E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: K1649E
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: K1649E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: K1649E
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: 99.4%
- 20x: 98.0%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
C |
A |
9: 55,917,776 (GRCm39) |
G20V |
unknown |
Het |
Adam22 |
T |
C |
5: 8,161,974 (GRCm39) |
T733A |
possibly damaging |
Het |
Adam28 |
T |
A |
14: 68,874,943 (GRCm39) |
N245Y |
probably damaging |
Het |
Aldh9a1 |
C |
G |
1: 167,177,919 (GRCm39) |
R39G |
probably benign |
Het |
Armc3 |
A |
C |
2: 19,253,426 (GRCm39) |
E189A |
possibly damaging |
Het |
Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
Cars1 |
G |
A |
7: 143,123,185 (GRCm39) |
T560I |
probably benign |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Cd84 |
G |
A |
1: 171,713,994 (GRCm39) |
|
probably null |
Het |
Ces2g |
G |
T |
8: 105,690,623 (GRCm39) |
A135S |
possibly damaging |
Het |
Cfh |
T |
C |
1: 140,030,149 (GRCm39) |
D926G |
probably benign |
Het |
Chrm2 |
A |
G |
6: 36,500,955 (GRCm39) |
T271A |
probably benign |
Het |
Col6a3 |
G |
T |
1: 90,705,249 (GRCm39) |
Y2824* |
probably null |
Het |
Cth |
T |
A |
3: 157,616,575 (GRCm39) |
R196S |
probably damaging |
Het |
Cyp2g1 |
T |
C |
7: 26,514,060 (GRCm39) |
M222T |
possibly damaging |
Het |
Depdc5 |
T |
A |
5: 33,095,042 (GRCm39) |
M773K |
probably benign |
Het |
Dmbx1 |
G |
A |
4: 115,780,884 (GRCm39) |
P39L |
probably damaging |
Het |
Dst |
G |
C |
1: 34,238,432 (GRCm39) |
W1697C |
probably damaging |
Het |
Eno1 |
C |
T |
4: 150,321,208 (GRCm39) |
|
probably benign |
Het |
Erc2 |
G |
T |
14: 27,802,114 (GRCm39) |
V761L |
possibly damaging |
Het |
Frem1 |
A |
T |
4: 82,924,083 (GRCm39) |
I292N |
probably damaging |
Het |
Ftdc2 |
G |
A |
16: 58,458,884 (GRCm39) |
|
probably benign |
Het |
Hip1 |
G |
T |
5: 135,460,571 (GRCm39) |
L530M |
possibly damaging |
Het |
Kcna2 |
A |
G |
3: 107,012,268 (GRCm39) |
Q283R |
probably benign |
Het |
Kndc1 |
G |
A |
7: 139,501,392 (GRCm39) |
D894N |
probably damaging |
Het |
Lats1 |
G |
T |
10: 7,578,681 (GRCm39) |
G602W |
probably damaging |
Het |
Lgals12 |
A |
G |
19: 7,581,356 (GRCm39) |
L117P |
probably damaging |
Het |
Mfsd4b1 |
A |
T |
10: 39,878,680 (GRCm39) |
L406I |
possibly damaging |
Het |
Msln |
A |
T |
17: 25,969,731 (GRCm39) |
M333K |
probably benign |
Het |
Mup2 |
A |
G |
4: 60,139,740 (GRCm39) |
V16A |
probably benign |
Het |
Mybpc2 |
T |
C |
7: 44,166,330 (GRCm39) |
E220G |
probably null |
Het |
Myh6 |
A |
G |
14: 55,197,771 (GRCm39) |
Y456H |
probably benign |
Het |
Nlrp1a |
A |
G |
11: 71,013,934 (GRCm39) |
S439P |
probably damaging |
Het |
Nyap1 |
T |
C |
5: 137,733,194 (GRCm39) |
E613G |
probably benign |
Het |
Or10b1 |
G |
A |
10: 78,355,609 (GRCm39) |
V56M |
probably benign |
Het |
Parp8 |
C |
T |
13: 117,029,562 (GRCm39) |
V554M |
probably damaging |
Het |
Phpt1 |
A |
T |
2: 25,464,750 (GRCm39) |
D34E |
probably benign |
Het |
Ppip5k2 |
G |
A |
1: 97,672,921 (GRCm39) |
S463L |
probably benign |
Het |
Prss28 |
A |
G |
17: 25,530,215 (GRCm39) |
Q173R |
probably benign |
Het |
Rtel1 |
T |
A |
2: 180,988,860 (GRCm39) |
W441R |
possibly damaging |
Het |
Serbp1 |
T |
C |
6: 67,244,025 (GRCm39) |
|
probably benign |
Het |
Skint5 |
T |
C |
4: 113,347,848 (GRCm39) |
K1319E |
unknown |
Het |
Slc35a4 |
G |
A |
18: 36,816,111 (GRCm39) |
G314S |
probably damaging |
Het |
Slc8a1 |
A |
G |
17: 81,956,498 (GRCm39) |
I180T |
probably damaging |
Het |
Spire1 |
G |
A |
18: 67,652,462 (GRCm39) |
P205L |
probably benign |
Het |
Tat |
G |
T |
8: 110,720,547 (GRCm39) |
G168W |
probably damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Trh |
C |
T |
6: 92,219,939 (GRCm39) |
G126R |
probably benign |
Het |
Ugcg |
G |
A |
4: 59,207,843 (GRCm39) |
G61R |
probably damaging |
Het |
Uggt1 |
T |
C |
1: 36,260,306 (GRCm39) |
T170A |
probably benign |
Het |
Unc5b |
G |
A |
10: 60,608,028 (GRCm39) |
P702S |
probably damaging |
Het |
Usp8 |
A |
G |
2: 126,562,073 (GRCm39) |
D89G |
possibly damaging |
Het |
Vmn2r1 |
T |
A |
3: 64,012,674 (GRCm39) |
I845K |
probably damaging |
Het |
Vnn3 |
A |
G |
10: 23,740,498 (GRCm39) |
N267S |
possibly damaging |
Het |
Xkr9 |
A |
G |
1: 13,771,587 (GRCm39) |
R368G |
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 |
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'- CTGTCAAGGACTTGGAAAATACTG -3'
(R):5'- GTATCAGGCTGTAAAGAACTACATG -3'
Sequencing Primer
(F):5'- AACTAACTCATGAAGAACAGAACTC -3'
(R):5'- GAACTACATGTTATCTCTGCATCTTG -3'
|
Posted On |
2022-06-15 |