Incidental Mutation 'R2104:Casp8ap2'
| ID |
230764 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
040108-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2104 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615451-32653265 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32644727 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1267
(S1267P)
|
| 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: S1267P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: S1267P
| 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: S1267P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: S1267P
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (80/80) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
G |
A |
7: 119,784,304 |
V563I |
probably benign |
Het |
| Amer3 |
T |
C |
1: 34,588,678 |
V666A |
probably benign |
Het |
| Ankrd16 |
A |
G |
2: 11,779,900 |
|
probably benign |
Het |
| Ankub1 |
G |
T |
3: 57,672,875 |
C120* |
probably null |
Het |
| Arhgap31 |
T |
C |
16: 38,625,579 |
I135V |
probably benign |
Het |
| Atp2c2 |
G |
A |
8: 119,749,845 |
G633D |
probably benign |
Het |
| Camta1 |
T |
A |
4: 151,453,294 |
Q143L |
probably damaging |
Het |
| Cdh1 |
T |
A |
8: 106,653,759 |
|
probably benign |
Het |
| Cdhr4 |
C |
A |
9: 107,996,261 |
D397E |
probably damaging |
Het |
| Cdk6 |
T |
G |
5: 3,344,387 |
S7R |
probably benign |
Het |
| Cilp2 |
C |
A |
8: 69,882,792 |
E519* |
probably null |
Het |
| Clybl |
A |
G |
14: 122,311,306 |
Y40C |
probably damaging |
Het |
| Col4a3bp |
T |
A |
13: 96,634,886 |
N550K |
probably damaging |
Het |
| Ctnnal1 |
T |
C |
4: 56,812,329 |
*732W |
probably null |
Het |
| Ctns |
A |
T |
11: 73,193,081 |
S38R |
probably benign |
Het |
| Cwh43 |
A |
T |
5: 73,421,530 |
K293N |
possibly damaging |
Het |
| Dcaf5 |
G |
T |
12: 80,338,861 |
D830E |
probably benign |
Het |
| Dmxl2 |
A |
G |
9: 54,415,564 |
V1512A |
probably damaging |
Het |
| Dnah9 |
A |
T |
11: 66,061,124 |
C1850S |
probably damaging |
Het |
| Dpp8 |
C |
T |
9: 65,074,567 |
|
probably null |
Het |
| Enam |
A |
T |
5: 88,501,787 |
Q385L |
probably damaging |
Het |
| Etv3 |
A |
G |
3: 87,536,062 |
T318A |
possibly damaging |
Het |
| Exd2 |
T |
G |
12: 80,496,801 |
I586S |
probably benign |
Het |
| Fat3 |
A |
G |
9: 15,998,517 |
V2063A |
possibly damaging |
Het |
| Fezf1 |
A |
G |
6: 23,247,332 |
F248S |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,450,735 |
|
probably null |
Het |
| Foxc2 |
A |
G |
8: 121,118,080 |
Y489C |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,171,520 |
E540G |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,956,199 |
I193T |
probably benign |
Het |
| Ifih1 |
G |
A |
2: 62,610,545 |
Q426* |
probably null |
Het |
| Ifit1bl2 |
T |
A |
19: 34,619,520 |
D232V |
probably benign |
Het |
| Igf2bp1 |
A |
G |
11: 95,975,296 |
V122A |
probably damaging |
Het |
| Inpp1 |
T |
G |
1: 52,799,418 |
Q24P |
probably damaging |
Het |
| Kifc2 |
A |
G |
15: 76,661,254 |
D67G |
probably damaging |
Het |
| Lrrc43 |
G |
A |
5: 123,501,114 |
G402D |
probably benign |
Het |
| Lrrc8c |
C |
T |
5: 105,607,358 |
T333M |
possibly damaging |
Het |
| Mab21l3 |
G |
T |
3: 101,823,428 |
A165D |
probably benign |
Het |
| Mcub |
T |
A |
3: 129,918,688 |
R179S |
probably benign |
Het |
| Mdfi |
G |
C |
17: 47,824,637 |
A56G |
possibly damaging |
Het |
| Mdn1 |
A |
T |
4: 32,743,843 |
|
probably null |
Het |
| Meox2 |
A |
G |
12: 37,167,477 |
T226A |
probably damaging |
Het |
| Mipol1 |
A |
G |
12: 57,306,056 |
|
probably null |
Het |
| Mms22l |
T |
G |
4: 24,591,084 |
N1018K |
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,454,751 |
I1285T |
possibly damaging |
Het |
| Muc20 |
T |
G |
16: 32,794,177 |
S277R |
probably damaging |
Het |
| Muc6 |
C |
A |
7: 141,634,078 |
V2845L |
probably benign |
Het |
| Mup5 |
C |
A |
4: 61,833,725 |
G96C |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,271,558 |
R2074L |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,256,814 |
M2813L |
probably benign |
Het |
| Oasl2 |
A |
T |
5: 114,911,002 |
K168* |
probably null |
Het |
| Olfr774 |
T |
C |
10: 129,238,499 |
S117P |
probably damaging |
Het |
| P2rx2 |
C |
T |
5: 110,341,141 |
D203N |
probably damaging |
Het |
| Ptprg |
T |
C |
14: 11,952,897 |
|
probably null |
Het |
| Rims4 |
C |
T |
2: 163,864,865 |
|
probably null |
Het |
| Rtn4ip1 |
T |
A |
10: 43,932,406 |
W60R |
probably benign |
Het |
| Sccpdh |
T |
C |
1: 179,670,597 |
S69P |
probably benign |
Het |
| Serpina3b |
T |
A |
12: 104,138,810 |
I415N |
probably benign |
Het |
| Slc22a4 |
T |
C |
11: 53,983,610 |
|
probably benign |
Het |
| Slc4a5 |
G |
A |
6: 83,297,378 |
A1076T |
probably benign |
Het |
| Slit1 |
T |
C |
19: 41,602,247 |
K1329E |
possibly damaging |
Het |
| Synj2bp |
A |
C |
12: 81,502,052 |
F138V |
probably benign |
Het |
| Taar7a |
T |
C |
10: 23,993,061 |
I141V |
probably damaging |
Het |
| Tas1r3 |
T |
C |
4: 155,862,131 |
E339G |
probably benign |
Het |
| Tep1 |
A |
G |
14: 50,850,580 |
|
probably benign |
Het |
| Tgds |
A |
T |
14: 118,121,737 |
Y146* |
probably null |
Het |
| Tgm3 |
G |
A |
2: 130,037,483 |
V332I |
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,843,809 |
|
probably benign |
Het |
| Top1 |
T |
A |
2: 160,704,819 |
Y340N |
probably damaging |
Het |
| Topbp1 |
T |
C |
9: 103,317,982 |
|
probably benign |
Het |
| Tpst1 |
A |
G |
5: 130,102,361 |
N224S |
probably benign |
Het |
| Traf4 |
A |
G |
11: 78,160,014 |
F439L |
probably damaging |
Het |
| Trim58 |
A |
G |
11: 58,643,138 |
|
probably benign |
Het |
| Tspan31 |
T |
C |
10: 127,068,135 |
N205S |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 59,276,477 |
N334K |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,329,682 |
|
probably null |
Het |
| Vwf |
G |
A |
6: 125,646,330 |
V1797I |
probably benign |
Het |
| Wdr81 |
G |
T |
11: 75,452,983 |
P486Q |
probably damaging |
Het |
| Whamm |
C |
T |
7: 81,591,771 |
R277* |
probably null |
Het |
| Wisp1 |
A |
G |
15: 66,919,327 |
E326G |
probably benign |
Het |
| Yipf7 |
T |
A |
5: 69,521,119 |
N56I |
possibly damaging |
Het |
| Zfp523 |
A |
T |
17: 28,195,216 |
T75S |
probably benign |
Het |
|
| Other mutations in Casp8ap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00686:Casp8ap2
|
APN |
4 |
32,641,433 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00714:Casp8ap2
|
APN |
4 |
32,649,192 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00754:Casp8ap2
|
APN |
4 |
32,641,036 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00954:Casp8ap2
|
APN |
4 |
32,645,403 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00970:Casp8ap2
|
APN |
4 |
32,646,182 (GRCm38) |
missense |
probably benign |
|
|
IGL01534:Casp8ap2
|
APN |
4 |
32,648,134 (GRCm38) |
splice site |
probably benign |
|
|
IGL01596:Casp8ap2
|
APN |
4 |
32,646,365 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01686:Casp8ap2
|
APN |
4 |
32,641,294 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02002:Casp8ap2
|
APN |
4 |
32,639,391 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02273:Casp8ap2
|
APN |
4 |
32,643,974 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02510:Casp8ap2
|
APN |
4 |
32,639,704 (GRCm38) |
missense |
probably benign |
0.05 |
|
IGL02600:Casp8ap2
|
APN |
4 |
32,630,246 (GRCm38) |
missense |
probably null |
1.00 |
|
IGL02929:Casp8ap2
|
APN |
4 |
32,624,105 (GRCm38) |
utr 5 prime |
probably benign |
|
|
F5770:Casp8ap2
|
UTSW |
4 |
32,639,944 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02988:Casp8ap2
|
UTSW |
4 |
32,644,590 (GRCm38) |
missense |
probably benign |
0.14 |
|
R0023:Casp8ap2
|
UTSW |
4 |
32,640,185 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0027:Casp8ap2
|
UTSW |
4 |
32,643,810 (GRCm38) |
missense |
probably benign |
0.01 |
|
R0090:Casp8ap2
|
UTSW |
4 |
32,640,327 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0117:Casp8ap2
|
UTSW |
4 |
32,640,817 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0144:Casp8ap2
|
UTSW |
4 |
32,643,797 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R0268:Casp8ap2
|
UTSW |
4 |
32,644,079 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0344:Casp8ap2
|
UTSW |
4 |
32,644,079 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0555:Casp8ap2
|
UTSW |
4 |
32,640,381 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1051:Casp8ap2
|
UTSW |
4 |
32,640,790 (GRCm38) |
missense |
probably benign |
0.28 |
|
R1165:Casp8ap2
|
UTSW |
4 |
32,640,563 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1243:Casp8ap2
|
UTSW |
4 |
32,645,687 (GRCm38) |
missense |
probably benign |
0.03 |
|
R1311:Casp8ap2
|
UTSW |
4 |
32,648,111 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R1337:Casp8ap2
|
UTSW |
4 |
32,645,721 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R1471:Casp8ap2
|
UTSW |
4 |
32,639,386 (GRCm38) |
nonsense |
probably null |
|
|
R1497:Casp8ap2
|
UTSW |
4 |
32,639,938 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1521:Casp8ap2
|
UTSW |
4 |
32,631,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1588:Casp8ap2
|
UTSW |
4 |
32,640,541 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1625:Casp8ap2
|
UTSW |
4 |
32,648,068 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1731:Casp8ap2
|
UTSW |
4 |
32,641,442 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R1899:Casp8ap2
|
UTSW |
4 |
32,643,647 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2000:Casp8ap2
|
UTSW |
4 |
32,634,874 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2021:Casp8ap2
|
UTSW |
4 |
32,644,560 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2022:Casp8ap2
|
UTSW |
4 |
32,644,560 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2023:Casp8ap2
|
UTSW |
4 |
32,644,560 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2088:Casp8ap2
|
UTSW |
4 |
32,631,126 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2128:Casp8ap2
|
UTSW |
4 |
32,640,142 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2129:Casp8ap2
|
UTSW |
4 |
32,640,142 (GRCm38) |
missense |
probably benign |
0.06 |
|
R2305:Casp8ap2
|
UTSW |
4 |
32,646,411 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2316:Casp8ap2
|
UTSW |
4 |
32,643,781 (GRCm38) |
missense |
probably benign |
0.31 |
|
R2919:Casp8ap2
|
UTSW |
4 |
32,645,343 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4091:Casp8ap2
|
UTSW |
4 |
32,643,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4357:Casp8ap2
|
UTSW |
4 |
32,646,150 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4807:Casp8ap2
|
UTSW |
4 |
32,644,505 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4828:Casp8ap2
|
UTSW |
4 |
32,639,807 (GRCm38) |
missense |
probably benign |
|
|
R4908:Casp8ap2
|
UTSW |
4 |
32,639,905 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R4945:Casp8ap2
|
UTSW |
4 |
32,631,163 (GRCm38) |
missense |
possibly damaging |
0.57 |
|
R4962:Casp8ap2
|
UTSW |
4 |
32,640,554 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6014:Casp8ap2
|
UTSW |
4 |
32,641,400 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6092:Casp8ap2
|
UTSW |
4 |
32,639,380 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6257:Casp8ap2
|
UTSW |
4 |
32,641,364 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R6289:Casp8ap2
|
UTSW |
4 |
32,639,590 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6482:Casp8ap2
|
UTSW |
4 |
32,634,813 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6496:Casp8ap2
|
UTSW |
4 |
32,641,553 (GRCm38) |
missense |
probably benign |
0.05 |
|
R6515:Casp8ap2
|
UTSW |
4 |
32,646,423 (GRCm38) |
missense |
possibly damaging |
0.64 |
|
R7015:Casp8ap2
|
UTSW |
4 |
32,644,278 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7033:Casp8ap2
|
UTSW |
4 |
32,639,392 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7072:Casp8ap2
|
UTSW |
4 |
32,644,766 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7448:Casp8ap2
|
UTSW |
4 |
32,643,974 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R7944:Casp8ap2
|
UTSW |
4 |
32,645,909 (GRCm38) |
missense |
probably benign |
0.12 |
|
R7945:Casp8ap2
|
UTSW |
4 |
32,645,909 (GRCm38) |
missense |
probably benign |
0.12 |
|
R8170:Casp8ap2
|
UTSW |
4 |
32,615,490 (GRCm38) |
splice site |
probably benign |
|
|
R8179:Casp8ap2
|
UTSW |
4 |
32,643,939 (GRCm38) |
nonsense |
probably null |
|
|
R8207:Casp8ap2
|
UTSW |
4 |
32,646,446 (GRCm38) |
missense |
possibly damaging |
0.63 |
|
R8263:Casp8ap2
|
UTSW |
4 |
32,644,072 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8298:Casp8ap2
|
UTSW |
4 |
32,640,429 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9441:Casp8ap2
|
UTSW |
4 |
32,645,873 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9455:Casp8ap2
|
UTSW |
4 |
32,643,924 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R9729:Casp8ap2
|
UTSW |
4 |
32,643,807 (GRCm38) |
missense |
possibly damaging |
0.71 |
|
V7580:Casp8ap2
|
UTSW |
4 |
32,639,944 (GRCm38) |
missense |
probably benign |
0.00 |
|
X0018:Casp8ap2
|
UTSW |
4 |
32,643,738 (GRCm38) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGAGAACCCAACATTCAAATTGTC -3'
(R):5'- CAGCAGCTGTTTCTCTGGAG -3'
Sequencing Primer
(F):5'- TCACTGGGATGTGAAAAATCTGAAG -3'
(R):5'- GGAGTCTTTAATTCCCACTCTGC -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation