Incidental Mutation 'R6257:Casp8ap2'
ID |
506378 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8ap2
|
Ensembl Gene |
ENSMUSG00000028282 |
Gene Name |
caspase 8 associated protein 2 |
Synonyms |
FLASH, D4Ertd659e |
MMRRC Submission |
044374-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6257 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32641364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 806
(D806G)
|
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: D806G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: D806G
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: D806G
PolyPhen 2
Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: D806G
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: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.4%
|
Validation Efficiency |
97% (74/76) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf1 |
A |
T |
17: 36,272,074 (GRCm39) |
N313K |
probably benign |
Het |
Adamts2 |
T |
C |
11: 50,666,153 (GRCm39) |
V383A |
probably damaging |
Het |
Adamts6 |
A |
T |
13: 104,598,790 (GRCm39) |
Q877L |
probably benign |
Het |
Adgre4 |
C |
T |
17: 56,109,133 (GRCm39) |
T380I |
possibly damaging |
Het |
Aspm |
A |
G |
1: 139,409,791 (GRCm39) |
|
probably null |
Het |
Atg16l2 |
A |
G |
7: 100,951,102 (GRCm39) |
|
probably null |
Het |
Bcl6b |
C |
T |
11: 70,116,878 (GRCm39) |
R467H |
probably benign |
Het |
Cacna2d4 |
G |
A |
6: 119,258,580 (GRCm39) |
|
probably null |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Ccser1 |
A |
G |
6: 61,350,946 (GRCm39) |
D501G |
probably damaging |
Het |
Ccser1 |
A |
G |
6: 62,356,769 (GRCm39) |
T736A |
probably benign |
Het |
Cd164l2 |
T |
A |
4: 132,948,345 (GRCm39) |
C19S |
unknown |
Het |
Cdk15 |
G |
A |
1: 59,296,264 (GRCm39) |
|
probably null |
Het |
Cebpz |
T |
C |
17: 79,243,261 (GRCm39) |
E131G |
probably benign |
Het |
Ces1d |
T |
C |
8: 93,893,025 (GRCm39) |
D519G |
probably benign |
Het |
Cftr |
A |
C |
6: 18,282,500 (GRCm39) |
T1067P |
probably benign |
Het |
Chd1 |
T |
G |
17: 15,950,465 (GRCm39) |
|
probably null |
Het |
Chil4 |
T |
A |
3: 106,111,412 (GRCm39) |
D234V |
possibly damaging |
Het |
Cldn16 |
T |
A |
16: 26,300,080 (GRCm39) |
S173T |
probably damaging |
Het |
Cpd |
A |
T |
11: 76,703,496 (GRCm39) |
F456I |
probably benign |
Het |
Cst8 |
C |
A |
2: 148,647,365 (GRCm39) |
A125E |
probably damaging |
Het |
Dars2 |
G |
T |
1: 160,869,398 (GRCm39) |
P617Q |
probably damaging |
Het |
Defb26 |
A |
G |
2: 152,349,860 (GRCm39) |
V140A |
unknown |
Het |
Dntt |
T |
G |
19: 41,041,501 (GRCm39) |
V395G |
probably damaging |
Het |
Dock10 |
G |
A |
1: 80,481,413 (GRCm39) |
|
probably benign |
Het |
Dscam |
T |
C |
16: 96,474,914 (GRCm39) |
N1216S |
possibly damaging |
Het |
En1 |
A |
T |
1: 120,531,636 (GRCm39) |
D292V |
unknown |
Het |
Erbb4 |
A |
T |
1: 68,435,432 (GRCm39) |
L155Q |
probably damaging |
Het |
Erbin |
T |
C |
13: 103,998,796 (GRCm39) |
T197A |
probably benign |
Het |
Fat2 |
A |
G |
11: 55,153,407 (GRCm39) |
F3602L |
probably benign |
Het |
Fcsk |
A |
T |
8: 111,617,177 (GRCm39) |
C365S |
probably benign |
Het |
Gm3443 |
A |
T |
19: 21,533,075 (GRCm39) |
D13V |
unknown |
Het |
Gm6401 |
T |
C |
14: 41,789,828 (GRCm39) |
Q10R |
probably benign |
Het |
Gmcl1 |
G |
A |
6: 86,677,623 (GRCm39) |
T410I |
possibly damaging |
Het |
Grid2ip |
G |
A |
5: 143,366,184 (GRCm39) |
S379N |
probably damaging |
Het |
H2-T24 |
T |
A |
17: 36,325,574 (GRCm39) |
T305S |
probably benign |
Het |
Ksr2 |
A |
T |
5: 117,552,909 (GRCm39) |
M6L |
probably benign |
Het |
Lama2 |
A |
G |
10: 26,862,895 (GRCm39) |
L2956S |
possibly damaging |
Het |
Lhfpl3 |
A |
G |
5: 22,951,557 (GRCm39) |
T123A |
probably benign |
Het |
Lrp1b |
T |
A |
2: 40,486,981 (GRCm39) |
|
probably null |
Het |
Ltn1 |
G |
A |
16: 87,208,662 (GRCm39) |
A812V |
possibly damaging |
Het |
Maml2 |
C |
T |
9: 13,531,722 (GRCm39) |
S312L |
probably damaging |
Het |
Myo7b |
T |
A |
18: 32,146,468 (GRCm39) |
N106Y |
probably damaging |
Het |
Nacc2 |
A |
T |
2: 25,950,420 (GRCm39) |
C439S |
probably damaging |
Het |
Ncoa7 |
A |
G |
10: 30,570,173 (GRCm39) |
I224T |
probably damaging |
Het |
Nf1 |
A |
T |
11: 79,440,317 (GRCm39) |
L2303F |
probably damaging |
Het |
Noc3l |
A |
T |
19: 38,784,349 (GRCm39) |
|
probably null |
Het |
Nup155 |
C |
T |
15: 8,180,282 (GRCm39) |
R1120* |
probably null |
Het |
Oas3 |
C |
A |
5: 120,899,200 (GRCm39) |
|
probably benign |
Het |
Ocln |
T |
C |
13: 100,676,017 (GRCm39) |
I159V |
probably benign |
Het |
Or1p1c |
T |
C |
11: 74,160,833 (GRCm39) |
V206A |
probably damaging |
Het |
Or2t45 |
T |
A |
11: 58,669,829 (GRCm39) |
V292E |
probably damaging |
Het |
Os9 |
A |
C |
10: 126,955,006 (GRCm39) |
C181G |
probably damaging |
Het |
Phldb1 |
C |
T |
9: 44,607,437 (GRCm39) |
R1256Q |
probably damaging |
Het |
Pkd1l1 |
G |
A |
11: 8,892,195 (GRCm39) |
T208I |
probably benign |
Het |
Plppr4 |
T |
C |
3: 117,116,228 (GRCm39) |
Q485R |
possibly damaging |
Het |
Prkcb |
T |
A |
7: 122,167,386 (GRCm39) |
D365E |
probably benign |
Het |
Ptprz1 |
T |
A |
6: 22,959,639 (GRCm39) |
N45K |
probably damaging |
Het |
Rbl2 |
T |
C |
8: 91,842,306 (GRCm39) |
L987P |
probably damaging |
Het |
Runx1 |
T |
A |
16: 92,492,799 (GRCm39) |
|
probably benign |
Het |
Septin4 |
C |
A |
11: 87,481,175 (GRCm39) |
Q372K |
probably benign |
Het |
Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
Smtnl2 |
G |
A |
11: 72,292,225 (GRCm39) |
A274V |
probably damaging |
Het |
Sri |
T |
A |
5: 8,109,596 (GRCm39) |
|
probably null |
Het |
St3gal3 |
C |
T |
4: 117,964,875 (GRCm39) |
|
probably benign |
Het |
Tfpt |
A |
T |
7: 3,632,566 (GRCm39) |
L3* |
probably null |
Het |
Tgfb3 |
T |
C |
12: 86,124,615 (GRCm39) |
D31G |
possibly damaging |
Het |
Thsd7a |
G |
T |
6: 12,408,987 (GRCm39) |
C678* |
probably null |
Het |
Tmbim1 |
A |
G |
1: 74,332,225 (GRCm39) |
Y101H |
probably damaging |
Het |
Tmem17 |
A |
G |
11: 22,462,297 (GRCm39) |
|
probably benign |
Het |
Tmprss15 |
A |
T |
16: 78,769,113 (GRCm39) |
V769E |
probably damaging |
Het |
Trak1 |
C |
T |
9: 121,275,821 (GRCm39) |
R175C |
probably damaging |
Het |
Trak1 |
G |
T |
9: 121,196,290 (GRCm39) |
V41F |
possibly damaging |
Het |
Trim30c |
T |
C |
7: 104,039,375 (GRCm39) |
Y140C |
probably damaging |
Het |
Tubgcp3 |
A |
T |
8: 12,699,835 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
A |
12: 102,732,099 (GRCm39) |
C158* |
probably null |
Het |
Vmn2r79 |
A |
T |
7: 86,651,778 (GRCm39) |
L392F |
probably benign |
Het |
Zfp536 |
T |
A |
7: 37,179,830 (GRCm39) |
D925V |
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 |
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 |
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'- TCTTTCACCAAAAGCAGCTGC -3'
(R):5'- TGCTATCATACAGTGGAATTGCAC -3'
Sequencing Primer
(F):5'- AGTGAGAGCCATCTTGCAC -3'
(R):5'- CAGTGGAATTGCACATGAGCTCTC -3'
|
Posted On |
2018-03-15 |