Incidental Mutation 'IGL02002:Casp8ap2'
ID |
183107 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Casp8ap2
|
Ensembl Gene |
ENSMUSG00000028282 |
Gene Name |
caspase 8 associated protein 2 |
Synonyms |
FLASH, D4Ertd659e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02002
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32639391 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 148
(N148K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
AlphaFold |
Q9WUF3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029950
AA Change: N148K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: N148K
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 |
noncoding transcript
Transcript: ENSMUST00000127619
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000178925
AA Change: N148K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: N148K
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 |
|
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
G |
T |
17: 84,989,479 (GRCm39) |
Y76* |
probably null |
Het |
Acadsb |
T |
A |
7: 131,030,258 (GRCm39) |
V135E |
probably damaging |
Het |
Acap1 |
A |
G |
11: 69,775,286 (GRCm39) |
Y326H |
probably damaging |
Het |
Actl11 |
T |
A |
9: 107,806,529 (GRCm39) |
V284D |
probably benign |
Het |
Adcy10 |
G |
T |
1: 165,349,412 (GRCm39) |
D428Y |
probably damaging |
Het |
Akap8 |
A |
G |
17: 32,528,470 (GRCm39) |
C481R |
probably damaging |
Het |
Amotl2 |
G |
A |
9: 102,602,316 (GRCm39) |
A26T |
probably damaging |
Het |
Apob |
T |
C |
12: 8,044,822 (GRCm39) |
V814A |
probably benign |
Het |
Ccdc149 |
G |
A |
5: 52,563,421 (GRCm39) |
T124M |
probably damaging |
Het |
Cd320 |
A |
G |
17: 34,062,214 (GRCm39) |
|
probably benign |
Het |
Clca4b |
T |
C |
3: 144,638,194 (GRCm39) |
T23A |
probably benign |
Het |
Col22a1 |
A |
G |
15: 71,682,946 (GRCm39) |
|
probably benign |
Het |
Col24a1 |
T |
A |
3: 145,062,699 (GRCm39) |
F675I |
possibly damaging |
Het |
Col6a3 |
A |
G |
1: 90,709,858 (GRCm39) |
|
probably benign |
Het |
Dap3 |
A |
T |
3: 88,843,535 (GRCm39) |
M19K |
probably benign |
Het |
Dsg2 |
A |
G |
18: 20,712,233 (GRCm39) |
D123G |
probably damaging |
Het |
Dysf |
T |
A |
6: 84,187,769 (GRCm39) |
|
probably benign |
Het |
Erbb4 |
A |
G |
1: 68,119,885 (GRCm39) |
S853P |
probably damaging |
Het |
Fbn2 |
A |
G |
18: 58,247,625 (GRCm39) |
M423T |
probably benign |
Het |
Fcgbpl1 |
A |
T |
7: 27,852,221 (GRCm39) |
Y1248F |
probably damaging |
Het |
Fgfr1 |
T |
C |
8: 26,045,727 (GRCm39) |
Y112H |
probably damaging |
Het |
Gbp7 |
G |
A |
3: 142,244,661 (GRCm39) |
A203T |
probably damaging |
Het |
Gon4l |
C |
T |
3: 88,802,643 (GRCm39) |
P1085S |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,541,800 (GRCm39) |
F176L |
probably damaging |
Het |
Haghl |
A |
G |
17: 26,003,239 (GRCm39) |
F131S |
probably damaging |
Het |
Hmcn1 |
G |
A |
1: 150,491,049 (GRCm39) |
P4167S |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,978,820 (GRCm39) |
N199D |
probably benign |
Het |
Lmbr1l |
T |
A |
15: 98,802,666 (GRCm39) |
N428Y |
probably damaging |
Het |
Mc2r |
T |
A |
18: 68,540,505 (GRCm39) |
M263L |
probably benign |
Het |
Metap1 |
T |
A |
3: 138,168,150 (GRCm39) |
T325S |
probably damaging |
Het |
Mff |
A |
G |
1: 82,719,696 (GRCm39) |
R225G |
probably damaging |
Het |
Naprt |
A |
T |
15: 75,763,221 (GRCm39) |
L474Q |
probably damaging |
Het |
Nin |
A |
T |
12: 70,109,473 (GRCm39) |
Y155* |
probably null |
Het |
Nrg3 |
A |
T |
14: 38,092,724 (GRCm39) |
C612* |
probably null |
Het |
Or2aj5 |
T |
C |
16: 19,425,300 (GRCm39) |
I39M |
possibly damaging |
Het |
Or5p52 |
A |
T |
7: 107,502,497 (GRCm39) |
D191V |
possibly damaging |
Het |
Or6c35 |
T |
A |
10: 129,168,996 (GRCm39) |
I82K |
probably damaging |
Het |
Pdilt |
A |
T |
7: 119,099,667 (GRCm39) |
F200L |
probably damaging |
Het |
Ppard |
T |
G |
17: 28,517,877 (GRCm39) |
F315C |
probably damaging |
Het |
Ror1 |
T |
A |
4: 100,298,381 (GRCm39) |
S585T |
probably damaging |
Het |
Spdye4a |
T |
A |
5: 143,211,460 (GRCm39) |
I35F |
possibly damaging |
Het |
Tenm2 |
T |
C |
11: 36,097,922 (GRCm39) |
K442R |
probably benign |
Het |
Tln2 |
A |
G |
9: 67,263,980 (GRCm39) |
I553T |
probably damaging |
Het |
Tmem269 |
T |
A |
4: 119,071,338 (GRCm39) |
I26F |
probably benign |
Het |
Tsen2 |
T |
C |
6: 115,536,568 (GRCm39) |
V108A |
probably benign |
Het |
Ttyh3 |
A |
T |
5: 140,615,238 (GRCm39) |
D383E |
probably damaging |
Het |
Tut7 |
A |
G |
13: 59,929,910 (GRCm39) |
S1042P |
possibly damaging |
Het |
Usp13 |
T |
C |
3: 32,901,974 (GRCm39) |
S102P |
probably damaging |
Het |
Vmn2r118 |
T |
G |
17: 55,899,619 (GRCm39) |
S762R |
probably damaging |
Het |
Washc4 |
A |
G |
10: 83,415,407 (GRCm39) |
N799S |
possibly damaging |
Het |
Zdhhc17 |
C |
T |
10: 110,803,550 (GRCm39) |
V256I |
probably benign |
Het |
Zfp51 |
T |
A |
17: 21,684,221 (GRCm39) |
F279I |
probably damaging |
Het |
Zzz3 |
A |
G |
3: 152,157,006 (GRCm39) |
T223A |
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 |
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 |
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 |
|
Posted On |
2014-05-07 |