Incidental Mutation 'R1588:Casp8ap2'
| ID |
177625 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
039625-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1588 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32640541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 532
(A532T)
|
| 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: A532T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: A532T
| 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 |
probably benign
Transcript: ENSMUST00000178925
AA Change: A532T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: A532T
| 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: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.7%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc4 |
A |
G |
14: 118,771,484 (GRCm39) |
V869A |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,071,979 (GRCm39) |
M1I |
probably null |
Het |
| Adamts13 |
A |
T |
2: 26,865,687 (GRCm39) |
I81F |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,747,685 (GRCm39) |
N1567K |
possibly damaging |
Het |
| Arrdc4 |
G |
A |
7: 68,391,484 (GRCm39) |
T261M |
possibly damaging |
Het |
| C4b |
T |
C |
17: 34,959,999 (GRCm39) |
I326V |
probably benign |
Het |
| Ccdc134 |
A |
G |
15: 82,019,337 (GRCm39) |
T187A |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,917,039 (GRCm39) |
N359D |
probably damaging |
Het |
| Cep97 |
A |
G |
16: 55,748,184 (GRCm39) |
L82P |
probably damaging |
Het |
| Cfap53 |
A |
T |
18: 74,440,444 (GRCm39) |
R404S |
probably benign |
Het |
| Chrng |
C |
A |
1: 87,135,229 (GRCm39) |
F179L |
probably damaging |
Het |
| Ddi1 |
A |
T |
9: 6,265,391 (GRCm39) |
I326K |
probably damaging |
Het |
| Decr2 |
T |
C |
17: 26,302,002 (GRCm39) |
T243A |
possibly damaging |
Het |
| Dip2c |
T |
C |
13: 9,715,900 (GRCm39) |
V1502A |
probably damaging |
Het |
| Edem1 |
T |
C |
6: 108,818,640 (GRCm39) |
V216A |
probably damaging |
Het |
| Fat2 |
A |
C |
11: 55,174,230 (GRCm39) |
V2161G |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,161,034 (GRCm39) |
T2169A |
probably benign |
Het |
| Fmn1 |
T |
C |
2: 113,196,043 (GRCm39) |
V581A |
unknown |
Het |
| Hip1r |
A |
T |
5: 124,134,638 (GRCm39) |
D350V |
probably damaging |
Het |
| Ift140 |
G |
A |
17: 25,306,959 (GRCm39) |
R898H |
probably damaging |
Het |
| Il12a |
A |
G |
3: 68,602,896 (GRCm39) |
I159V |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,955,488 (GRCm39) |
E1032G |
possibly damaging |
Het |
| Kl |
A |
G |
5: 150,906,097 (GRCm39) |
E489G |
probably benign |
Het |
| Klhl3 |
T |
C |
13: 58,161,712 (GRCm39) |
E461G |
probably damaging |
Het |
| Masp1 |
T |
C |
16: 23,313,404 (GRCm39) |
Y177C |
probably damaging |
Het |
| Nop58 |
T |
A |
1: 59,742,031 (GRCm39) |
Y187N |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,167,785 (GRCm39) |
V1002A |
probably benign |
Het |
| Ntaq1 |
T |
A |
15: 58,021,285 (GRCm39) |
|
probably null |
Het |
| Ntrk1 |
A |
T |
3: 87,687,384 (GRCm39) |
Y683* |
probably null |
Het |
| Or11g26 |
A |
G |
14: 50,753,584 (GRCm39) |
I308V |
probably benign |
Het |
| Or13j1 |
C |
T |
4: 43,705,923 (GRCm39) |
C215Y |
probably damaging |
Het |
| Or2w4 |
C |
T |
13: 21,796,083 (GRCm39) |
D19N |
probably benign |
Het |
| Or8k21 |
T |
C |
2: 86,144,874 (GRCm39) |
Y252C |
probably damaging |
Het |
| Osbpl6 |
T |
C |
2: 76,409,560 (GRCm39) |
V367A |
probably benign |
Het |
| Phip |
A |
G |
9: 82,782,881 (GRCm39) |
W855R |
probably damaging |
Het |
| Phlpp1 |
A |
G |
1: 106,308,115 (GRCm39) |
S1131G |
probably damaging |
Het |
| Pkdrej |
A |
T |
15: 85,701,442 (GRCm39) |
V1498E |
probably benign |
Het |
| Pramel22 |
G |
T |
4: 143,382,121 (GRCm39) |
L192M |
probably damaging |
Het |
| Prkaa2 |
T |
C |
4: 104,908,420 (GRCm39) |
N152D |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Pxdn |
G |
A |
12: 30,052,558 (GRCm39) |
V732M |
probably damaging |
Het |
| Rccd1 |
C |
T |
7: 79,969,859 (GRCm39) |
W223* |
probably null |
Het |
| Riox2 |
T |
A |
16: 59,295,946 (GRCm39) |
S16T |
possibly damaging |
Het |
| Scn5a |
C |
T |
9: 119,350,367 (GRCm39) |
V836I |
probably damaging |
Het |
| Serpinf1 |
G |
A |
11: 75,301,076 (GRCm39) |
R380C |
probably damaging |
Het |
| Sf3b1 |
A |
T |
1: 55,036,336 (GRCm39) |
N912K |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,040,488 (GRCm39) |
C134S |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,785,924 (GRCm39) |
C123* |
probably null |
Het |
| Slc16a13 |
G |
T |
11: 70,109,421 (GRCm39) |
S360* |
probably null |
Het |
| Srr |
A |
G |
11: 74,799,629 (GRCm39) |
I282T |
possibly damaging |
Het |
| Trpm1 |
T |
C |
7: 63,873,565 (GRCm39) |
F607L |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,539,870 (GRCm39) |
D34372G |
probably benign |
Het |
| Tub |
C |
T |
7: 108,628,888 (GRCm39) |
T401I |
probably damaging |
Het |
| Wdhd1 |
T |
C |
14: 47,493,693 (GRCm39) |
E9G |
probably damaging |
Het |
| Yipf3 |
T |
A |
17: 46,561,787 (GRCm39) |
F198Y |
possibly damaging |
Het |
| Zfp955a |
C |
T |
17: 33,460,791 (GRCm39) |
R447K |
probably benign |
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 |
|
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'- AGTTAGTGTTGCACACCAGTGGG -3'
(R):5'- TGAGATGTTGCCAAAAGAGCCTCC -3'
Sequencing Primer
(F):5'- GTGGGAAAATACTCCTTTCAAAGCAG -3'
(R):5'- CTCTATTATGTTCACTGCCAGAAGG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation