Incidental Mutation 'R0144:Casp8ap2'
ID |
22492 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8ap2
|
Ensembl Gene |
ENSMUSG00000028282 |
Gene Name |
caspase 8 associated protein 2 |
Synonyms |
FLASH, D4Ertd659e |
MMRRC Submission |
038429-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0144 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32643797 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 957
(R957G)
|
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: R957G
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: R957G
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: R957G
PolyPhen 2
Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: R957G
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 87.0%
|
Validation Efficiency |
100% (90/90) |
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd4 |
T |
A |
12: 84,652,739 (GRCm39) |
|
probably null |
Het |
Acp6 |
T |
A |
3: 97,073,145 (GRCm39) |
|
probably benign |
Het |
AI661453 |
A |
T |
17: 47,780,224 (GRCm39) |
|
probably benign |
Het |
Aox1 |
A |
G |
1: 58,109,233 (GRCm39) |
I674V |
probably benign |
Het |
Armc2 |
A |
T |
10: 41,823,883 (GRCm39) |
|
probably benign |
Het |
Atp8b1 |
G |
C |
18: 64,704,445 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
T |
2: 59,737,839 (GRCm39) |
N1823K |
probably damaging |
Het |
Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
Brca1 |
A |
T |
11: 101,416,947 (GRCm39) |
S396T |
probably damaging |
Het |
Btnl6 |
G |
T |
17: 34,732,994 (GRCm39) |
R290S |
probably benign |
Het |
Ccdc13 |
A |
G |
9: 121,656,417 (GRCm39) |
L132P |
probably damaging |
Het |
Ccdc187 |
A |
G |
2: 26,166,215 (GRCm39) |
I738T |
probably damaging |
Het |
Ceacam15 |
G |
T |
7: 16,407,116 (GRCm39) |
H134N |
probably benign |
Het |
Cep170 |
T |
C |
1: 176,620,161 (GRCm39) |
I46V |
probably benign |
Het |
Cfap57 |
T |
C |
4: 118,441,902 (GRCm39) |
D722G |
probably damaging |
Het |
Col11a1 |
A |
T |
3: 113,907,243 (GRCm39) |
D628V |
unknown |
Het |
Csmd1 |
A |
T |
8: 16,441,838 (GRCm39) |
V342E |
probably benign |
Het |
Dennd1a |
A |
G |
2: 38,016,652 (GRCm39) |
V64A |
probably damaging |
Het |
Dlec1 |
G |
T |
9: 118,971,934 (GRCm39) |
G1345V |
probably benign |
Het |
Dnah1 |
G |
A |
14: 30,989,831 (GRCm39) |
|
probably benign |
Het |
Dock5 |
C |
T |
14: 68,023,735 (GRCm39) |
G1142D |
probably benign |
Het |
Etv2 |
C |
A |
7: 30,334,308 (GRCm39) |
A142S |
probably benign |
Het |
Fam110c |
C |
A |
12: 31,124,500 (GRCm39) |
T154K |
unknown |
Het |
Fbxo17 |
C |
G |
7: 28,434,765 (GRCm39) |
D183E |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,170,964 (GRCm39) |
W681R |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,134,045 (GRCm39) |
Y413H |
probably damaging |
Het |
Gab1 |
A |
G |
8: 81,511,830 (GRCm39) |
|
probably benign |
Het |
Gabarapl1 |
T |
C |
6: 129,510,411 (GRCm39) |
M1T |
probably null |
Het |
H2-M10.6 |
G |
A |
17: 37,123,133 (GRCm39) |
C22Y |
probably damaging |
Het |
Igfn1 |
T |
C |
1: 135,889,751 (GRCm39) |
D2432G |
probably damaging |
Het |
Il13 |
T |
C |
11: 53,524,003 (GRCm39) |
D60G |
possibly damaging |
Het |
Iqgap1 |
A |
G |
7: 80,401,668 (GRCm39) |
L479P |
probably damaging |
Het |
Itpr2 |
T |
A |
6: 146,228,653 (GRCm39) |
Q1314L |
probably damaging |
Het |
Jrk |
C |
T |
15: 74,578,005 (GRCm39) |
G427S |
probably benign |
Het |
Kcnb1 |
T |
G |
2: 166,946,467 (GRCm39) |
N794H |
probably damaging |
Het |
Klhl8 |
A |
T |
5: 104,015,804 (GRCm39) |
S361R |
probably benign |
Het |
Krt87 |
T |
C |
15: 101,336,542 (GRCm39) |
Y37C |
probably benign |
Het |
Lbp |
A |
T |
2: 158,161,630 (GRCm39) |
S231C |
probably damaging |
Het |
Lpin2 |
A |
G |
17: 71,532,071 (GRCm39) |
E142G |
probably damaging |
Het |
Lrch4 |
G |
A |
5: 137,636,805 (GRCm39) |
|
probably null |
Het |
Lypd11 |
A |
G |
7: 24,423,015 (GRCm39) |
V101A |
possibly damaging |
Het |
Manea |
A |
G |
4: 26,340,719 (GRCm39) |
M81T |
probably benign |
Het |
Mcm3ap |
A |
G |
10: 76,316,849 (GRCm39) |
T618A |
probably benign |
Het |
Me3 |
A |
G |
7: 89,389,080 (GRCm39) |
D128G |
probably damaging |
Het |
Mix23 |
A |
T |
16: 35,905,484 (GRCm39) |
N92I |
possibly damaging |
Het |
Mug2 |
A |
G |
6: 122,047,970 (GRCm39) |
|
probably benign |
Het |
Myo9b |
A |
T |
8: 71,798,687 (GRCm39) |
Q901L |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,608,948 (GRCm39) |
R640G |
probably damaging |
Het |
Nalcn |
C |
T |
14: 123,647,251 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,283,421 (GRCm39) |
N422S |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,437,953 (GRCm39) |
Y88N |
probably damaging |
Het |
Nrxn3 |
G |
A |
12: 89,315,162 (GRCm39) |
A358T |
probably damaging |
Het |
Or52s1 |
A |
T |
7: 102,861,747 (GRCm39) |
I216F |
probably damaging |
Het |
Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
Or5p62 |
T |
C |
7: 107,771,178 (GRCm39) |
I258V |
probably benign |
Het |
Phlpp2 |
C |
T |
8: 110,634,145 (GRCm39) |
R242W |
probably damaging |
Het |
Pld5 |
T |
C |
1: 175,798,107 (GRCm39) |
N431D |
probably benign |
Het |
Prss28 |
G |
A |
17: 25,528,424 (GRCm39) |
V16M |
probably damaging |
Het |
Psmd2 |
T |
A |
16: 20,480,975 (GRCm39) |
|
probably null |
Het |
Ptpn21 |
A |
T |
12: 98,654,868 (GRCm39) |
S700T |
probably benign |
Het |
Rasa2 |
A |
T |
9: 96,474,072 (GRCm39) |
V152D |
probably damaging |
Het |
Reln |
G |
T |
5: 22,153,447 (GRCm39) |
R2286S |
probably damaging |
Het |
Rflnb |
G |
T |
11: 75,915,789 (GRCm39) |
P102Q |
probably damaging |
Het |
Rin2 |
G |
A |
2: 145,718,559 (GRCm39) |
V680I |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,370,426 (GRCm39) |
K4742* |
probably null |
Het |
Rpp40 |
A |
T |
13: 36,085,352 (GRCm39) |
S143T |
probably benign |
Het |
Rps12 |
A |
G |
10: 23,662,689 (GRCm39) |
I51T |
probably benign |
Het |
Rsf1 |
T |
A |
7: 97,285,614 (GRCm39) |
W109R |
probably damaging |
Het |
Sipa1l2 |
C |
T |
8: 126,176,615 (GRCm39) |
|
probably null |
Het |
Tspan5 |
G |
T |
3: 138,604,109 (GRCm39) |
V165L |
probably damaging |
Het |
Uts2r |
T |
A |
11: 121,052,291 (GRCm39) |
V385E |
probably benign |
Het |
Vma21-ps |
T |
A |
4: 52,497,231 (GRCm39) |
D5V |
possibly damaging |
Het |
Vmn2r62 |
T |
A |
7: 42,438,440 (GRCm39) |
N132I |
probably damaging |
Het |
Zfp622 |
T |
C |
15: 25,991,665 (GRCm39) |
|
probably benign |
Het |
Zmiz1 |
A |
G |
14: 25,655,671 (GRCm39) |
K766R |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGTTCAGGATGCAAATGTCAAATGG -3'
(R):5'- TGCATAACCTCCCACAGGGAAGAG -3'
Sequencing Primer
(F):5'- GTCAAATGGCTAATACTCAGTGG -3'
(R):5'- CCACAGGGAAGAGGGTACAAG -3'
|
Posted On |
2013-04-16 |