Incidental Mutation 'R1731:Casp8ap2'
| ID |
199293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
039763-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1731 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32641442 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 832
(N832I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
| AlphaFold |
Q9WUF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029950
AA Change: N832I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: N832I
| 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 |
possibly damaging
Transcript: ENSMUST00000178925
AA Change: N832I
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: N832I
| 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: 97.5%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam7 |
T |
A |
14: 68,762,805 (GRCm39) |
Y140F |
probably damaging |
Het |
| Adgrl4 |
T |
G |
3: 151,246,623 (GRCm39) |
I641S |
possibly damaging |
Het |
| Aqp9 |
A |
G |
9: 71,030,250 (GRCm39) |
I205T |
possibly damaging |
Het |
| Arap3 |
C |
T |
18: 38,122,965 (GRCm39) |
V512I |
probably benign |
Het |
| Atf2 |
C |
T |
2: 73,675,853 (GRCm39) |
G123E |
probably damaging |
Het |
| Baz1a |
T |
C |
12: 54,965,330 (GRCm39) |
D708G |
possibly damaging |
Het |
| Calcrl |
A |
G |
2: 84,175,512 (GRCm39) |
|
probably null |
Het |
| Capzb |
T |
A |
4: 139,007,341 (GRCm39) |
W110R |
probably damaging |
Het |
| Cecr2 |
T |
A |
6: 120,735,141 (GRCm39) |
H764Q |
possibly damaging |
Het |
| Cep131 |
T |
C |
11: 119,967,742 (GRCm39) |
|
probably null |
Het |
| Ces2e |
T |
C |
8: 105,656,208 (GRCm39) |
V173A |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,408,591 (GRCm39) |
D944G |
probably benign |
Het |
| Cyb5rl |
C |
A |
4: 106,938,110 (GRCm39) |
A189E |
probably damaging |
Het |
| Cyp2c40 |
A |
G |
19: 39,801,133 (GRCm39) |
S41P |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,621,076 (GRCm39) |
L544P |
probably damaging |
Het |
| Epha2 |
A |
G |
4: 141,049,063 (GRCm39) |
K640E |
possibly damaging |
Het |
| Erap1 |
T |
A |
13: 74,814,241 (GRCm39) |
C8* |
probably null |
Het |
| Fat3 |
A |
G |
9: 15,907,233 (GRCm39) |
V2923A |
probably benign |
Het |
| Fat4 |
A |
T |
3: 38,945,459 (GRCm39) |
I1451F |
probably damaging |
Het |
| Fcsk |
A |
T |
8: 111,621,455 (GRCm39) |
I163N |
probably damaging |
Het |
| Fzd6 |
G |
A |
15: 38,894,722 (GRCm39) |
G296D |
probably damaging |
Het |
| Gm3486 |
T |
A |
14: 41,206,492 (GRCm39) |
M194L |
probably benign |
Het |
| Gm5592 |
C |
T |
7: 40,937,837 (GRCm39) |
A373V |
probably damaging |
Het |
| Hectd3 |
T |
A |
4: 116,853,652 (GRCm39) |
|
probably null |
Het |
| Hira |
T |
A |
16: 18,751,764 (GRCm39) |
V521E |
probably benign |
Het |
| Hsd17b6 |
A |
G |
10: 127,830,348 (GRCm39) |
L141S |
possibly damaging |
Het |
| Idua |
A |
G |
5: 108,829,538 (GRCm39) |
D467G |
probably benign |
Het |
| Ikzf4 |
G |
A |
10: 128,470,401 (GRCm39) |
P373L |
probably benign |
Het |
| Kcng1 |
T |
C |
2: 168,110,609 (GRCm39) |
E185G |
probably benign |
Het |
| Krt84 |
G |
A |
15: 101,434,398 (GRCm39) |
S523F |
possibly damaging |
Het |
| Lpcat4 |
T |
C |
2: 112,074,188 (GRCm39) |
L250P |
probably damaging |
Het |
| Lrrc49 |
A |
G |
9: 60,528,914 (GRCm39) |
Y281H |
probably damaging |
Het |
| Mta2 |
C |
A |
19: 8,925,088 (GRCm39) |
|
probably null |
Het |
| Myo15b |
T |
C |
11: 115,782,386 (GRCm39) |
I372T |
possibly damaging |
Het |
| Myocd |
T |
A |
11: 65,091,714 (GRCm39) |
N76I |
probably benign |
Het |
| Nav2 |
T |
A |
7: 49,197,922 (GRCm39) |
Y1123N |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,652,972 (GRCm39) |
C1127S |
probably damaging |
Het |
| Pcdhb8 |
A |
G |
18: 37,488,891 (GRCm39) |
K190E |
probably damaging |
Het |
| Pcnx1 |
A |
G |
12: 82,037,478 (GRCm39) |
H1918R |
probably damaging |
Het |
| Pde2a |
T |
A |
7: 101,150,867 (GRCm39) |
Y272N |
probably damaging |
Het |
| Phldb3 |
T |
C |
7: 24,318,660 (GRCm39) |
V313A |
probably benign |
Het |
| Plch2 |
C |
T |
4: 155,091,451 (GRCm39) |
V116I |
possibly damaging |
Het |
| Plod2 |
G |
A |
9: 92,466,657 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
T |
C |
7: 107,339,796 (GRCm39) |
Y730H |
probably damaging |
Het |
| Ptprh |
T |
C |
7: 4,604,912 (GRCm39) |
E44G |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,642,438 (GRCm39) |
E787G |
probably damaging |
Het |
| Rabep2 |
T |
A |
7: 126,043,444 (GRCm39) |
L448Q |
probably damaging |
Het |
| Rbfox3 |
A |
G |
11: 118,387,762 (GRCm39) |
|
probably null |
Het |
| Rgma |
T |
C |
7: 73,059,160 (GRCm39) |
V88A |
probably damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rnf125 |
A |
G |
18: 21,110,873 (GRCm39) |
T44A |
probably benign |
Het |
| Rusc2 |
G |
T |
4: 43,426,046 (GRCm39) |
A1384S |
probably benign |
Het |
| Selp |
T |
A |
1: 163,969,009 (GRCm39) |
C536* |
probably null |
Het |
| Serpinb3c |
G |
A |
1: 107,199,504 (GRCm39) |
T339I |
probably damaging |
Het |
| Slc4a5 |
C |
T |
6: 83,273,617 (GRCm39) |
R986C |
probably damaging |
Het |
| Slc8b1 |
T |
C |
5: 120,659,180 (GRCm39) |
I208T |
probably benign |
Het |
| Sp3 |
G |
A |
2: 72,776,999 (GRCm39) |
H533Y |
probably damaging |
Het |
| Speer1e |
T |
A |
5: 11,233,080 (GRCm39) |
N14K |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,568,698 (GRCm39) |
R1615G |
probably damaging |
Het |
| Tie1 |
T |
C |
4: 118,333,460 (GRCm39) |
E802G |
probably damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,061,842 (GRCm39) |
V164A |
probably benign |
Het |
| Vmn1r68 |
A |
G |
7: 10,261,802 (GRCm39) |
Y99H |
probably damaging |
Het |
| Vmn1r87 |
T |
A |
7: 12,865,703 (GRCm39) |
T195S |
possibly damaging |
Het |
| Vmn2r56 |
T |
C |
7: 12,466,972 (GRCm39) |
T21A |
probably benign |
Het |
| Zfp108 |
C |
A |
7: 23,957,964 (GRCm39) |
H34Q |
possibly damaging |
Het |
| Zfp267 |
T |
A |
3: 36,218,620 (GRCm39) |
F214L |
probably benign |
Het |
| Zfp456 |
C |
T |
13: 67,514,674 (GRCm39) |
S344N |
probably benign |
Het |
| Zscan22 |
T |
C |
7: 12,640,907 (GRCm39) |
C384R |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGCCAGTGAGAGCCATCT -3'
(R):5'- caccatgcccggTGCTACATAAAA -3'
Sequencing Primer
(F):5'- AGTGAGAGCCATCTTGCAC -3'
(R):5'- cacaaaccccttacacatcac -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation