Incidental Mutation 'IGL02988:Casp8ap2'
ID |
453474 |
Institutional Source |
Beutler Lab
|
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 # |
IGL02988 (G1)
|
Quality Score |
161 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 32644590 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 1221
(T1221I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136016
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
AlphaFold |
Q9WUF3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029950
AA Change: T1221I
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: T1221I
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: T1221I
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: T1221I
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 |
0.0898 |
Coding Region Coverage |
- 1x: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
Validation Efficiency |
99% (71/72) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933416I08Rik |
TCC |
TCCC |
X: 52,692,862 (GRCm39) |
|
noncoding transcript |
Het |
Aadacl4fm5 |
T |
A |
4: 144,513,100 (GRCm39) |
|
probably benign |
Het |
Adgrd1 |
G |
A |
5: 129,221,074 (GRCm39) |
A488T |
probably benign |
Het |
Ano3 |
T |
C |
2: 110,605,355 (GRCm39) |
S284G |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,376,509 (GRCm39) |
V897L |
probably benign |
Het |
Arl6 |
T |
A |
16: 59,434,209 (GRCm39) |
|
probably null |
Het |
Blnk |
G |
A |
19: 40,917,660 (GRCm39) |
T441M |
probably damaging |
Het |
Cbll1 |
A |
T |
12: 31,542,171 (GRCm39) |
F63L |
possibly damaging |
Het |
Cdk14 |
A |
G |
5: 5,086,484 (GRCm39) |
Y279H |
probably damaging |
Het |
Cflar |
A |
T |
1: 58,780,190 (GRCm39) |
I265F |
possibly damaging |
Het |
Cilp |
TGGG |
TGG |
9: 65,187,412 (GRCm39) |
|
probably null |
Het |
Crb1 |
CG |
C |
1: 139,164,824 (GRCm39) |
|
probably null |
Het |
Cyp3a13 |
A |
T |
5: 137,897,272 (GRCm39) |
Y347* |
probably null |
Het |
Defa27 |
T |
C |
8: 21,805,583 (GRCm39) |
S8P |
probably damaging |
Het |
Depdc5 |
A |
C |
5: 33,113,511 (GRCm39) |
|
probably null |
Het |
Dlg5 |
A |
G |
14: 24,216,323 (GRCm39) |
F573S |
probably damaging |
Het |
Fam20c |
A |
T |
5: 138,741,749 (GRCm39) |
E120V |
probably benign |
Het |
Fam53a |
T |
C |
5: 33,764,819 (GRCm39) |
K296E |
probably damaging |
Het |
Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,972,355 (GRCm39) |
T1526A |
possibly damaging |
Het |
Gm14325 |
A |
C |
2: 177,476,042 (GRCm39) |
|
probably null |
Het |
Gm7582 |
G |
A |
1: 85,019,588 (GRCm39) |
|
noncoding transcript |
Het |
Golga7b |
A |
C |
19: 42,255,239 (GRCm39) |
Y63S |
probably damaging |
Het |
Hexb |
A |
G |
13: 97,334,729 (GRCm39) |
L14P |
unknown |
Het |
Hsd17b3 |
A |
C |
13: 64,236,914 (GRCm39) |
L10R |
probably damaging |
Het |
Il6st |
T |
C |
13: 112,635,420 (GRCm39) |
F611L |
probably damaging |
Het |
Ints13 |
T |
A |
6: 146,457,646 (GRCm39) |
T411S |
possibly damaging |
Het |
Kif18b |
C |
A |
11: 102,799,146 (GRCm39) |
C685F |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,509,729 (GRCm39) |
N19S |
probably damaging |
Het |
Lmbr1 |
G |
T |
5: 29,497,221 (GRCm39) |
|
probably null |
Het |
Minar1 |
A |
G |
9: 89,484,792 (GRCm39) |
S202P |
probably benign |
Het |
Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
Mrc2 |
G |
A |
11: 105,216,397 (GRCm39) |
R62Q |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,458,183 (GRCm39) |
|
probably benign |
Het |
Myo5a |
A |
T |
9: 75,037,423 (GRCm39) |
|
probably benign |
Het |
Nobox |
G |
A |
6: 43,282,095 (GRCm39) |
S326L |
possibly damaging |
Het |
Nsl1 |
C |
A |
1: 190,795,300 (GRCm39) |
S22* |
probably null |
Het |
Or5b3 |
A |
C |
19: 13,388,826 (GRCm39) |
K298Q |
possibly damaging |
Het |
Or5j3 |
T |
C |
2: 86,128,823 (GRCm39) |
I221T |
probably damaging |
Het |
Pdia3 |
T |
A |
2: 121,260,037 (GRCm39) |
L192Q |
probably damaging |
Het |
Pkd2 |
A |
T |
5: 104,651,471 (GRCm39) |
R940* |
probably null |
Het |
Plcd3 |
T |
A |
11: 102,967,568 (GRCm39) |
Q458L |
probably benign |
Het |
Polm |
T |
A |
11: 5,786,343 (GRCm39) |
T75S |
probably benign |
Het |
Pon3 |
T |
A |
6: 5,232,330 (GRCm39) |
D230V |
possibly damaging |
Het |
Pxdn |
A |
T |
12: 30,053,113 (GRCm39) |
K917* |
probably null |
Het |
Rad54l2 |
A |
G |
9: 106,577,784 (GRCm39) |
S1046P |
probably benign |
Het |
Rb1cc1 |
T |
C |
1: 6,318,035 (GRCm39) |
|
probably null |
Het |
Rnf215 |
A |
G |
11: 4,086,785 (GRCm39) |
E194G |
probably damaging |
Het |
Rorb |
A |
T |
19: 18,915,336 (GRCm39) |
F441I |
probably damaging |
Het |
Sel1l2 |
C |
A |
2: 140,090,508 (GRCm39) |
G378V |
probably damaging |
Het |
Sema6a |
G |
T |
18: 47,431,281 (GRCm39) |
A139D |
probably damaging |
Het |
Serpinb3d |
A |
T |
1: 107,006,266 (GRCm39) |
M274K |
probably benign |
Het |
Siglec15 |
A |
C |
18: 78,092,462 (GRCm39) |
L32R |
probably damaging |
Het |
Siglecg |
A |
T |
7: 43,067,476 (GRCm39) |
D681V |
probably damaging |
Het |
Slc6a13 |
G |
T |
6: 121,303,066 (GRCm39) |
|
probably benign |
Het |
Slc9b2 |
G |
T |
3: 135,024,179 (GRCm39) |
A77S |
probably benign |
Het |
Slit3 |
T |
A |
11: 35,598,890 (GRCm39) |
V1498D |
probably damaging |
Het |
Snorc |
A |
G |
1: 87,402,926 (GRCm39) |
|
probably null |
Het |
Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
Stxbp2 |
T |
C |
8: 3,683,267 (GRCm39) |
|
probably benign |
Het |
Tbc1d9b |
T |
C |
11: 50,042,773 (GRCm39) |
S482P |
possibly damaging |
Het |
Tec |
A |
G |
5: 72,926,090 (GRCm39) |
S321P |
possibly damaging |
Het |
Tenm3 |
A |
G |
8: 48,688,381 (GRCm39) |
M2402T |
probably damaging |
Het |
Thrap3 |
G |
A |
4: 126,059,335 (GRCm39) |
|
probably null |
Het |
Tm4sf1 |
A |
T |
3: 57,200,537 (GRCm39) |
|
probably null |
Het |
Tmcc1 |
T |
C |
6: 116,019,889 (GRCm39) |
E306G |
probably damaging |
Het |
Traf3ip3 |
A |
T |
1: 192,877,182 (GRCm39) |
|
probably null |
Het |
Utf1 |
C |
T |
7: 139,523,875 (GRCm39) |
P30L |
possibly damaging |
Het |
Wdfy3 |
A |
T |
5: 102,077,847 (GRCm39) |
C880S |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GAGAGAACCCAACATTCAAATTGTCAG -3'
(R):5'- CCATCTGTGCATCACTCACTAAG -3'
Sequencing Primer
(F):5'- AATCTTCACTGGGATGTGA -3'
(R):5'- CTCACTAAGTTAAAAGTAAGGCTGG -3'
|
Posted On |
2017-02-08 |