Incidental Mutation 'R7015:Casp8ap2'
| ID |
545239 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
045116-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7015 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32644278 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1117
(V1117A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136016
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
| AlphaFold |
Q9WUF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029950
AA Change: V1117A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: V1117A
| 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 damaging
Transcript: ENSMUST00000178925
AA Change: V1117A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: V1117A
| 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 |
0.0805 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
93% (55/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930523C07Rik |
A |
G |
1: 159,902,738 (GRCm39) |
R3G |
possibly damaging |
Het |
| Abcc2 |
A |
G |
19: 43,786,617 (GRCm39) |
I150V |
probably benign |
Het |
| Adgrb1 |
T |
C |
15: 74,445,959 (GRCm39) |
L1085P |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 110,335,697 (GRCm39) |
N24D |
probably damaging |
Het |
| Aox1 |
A |
G |
1: 58,321,917 (GRCm39) |
T70A |
probably benign |
Het |
| Aplf |
G |
A |
6: 87,618,884 (GRCm39) |
A399V |
probably damaging |
Het |
| Asxl3 |
A |
G |
18: 22,656,978 (GRCm39) |
S1663G |
probably benign |
Het |
| Bcat1 |
G |
C |
6: 144,985,309 (GRCm39) |
P43R |
probably damaging |
Het |
| Camk1 |
T |
C |
6: 113,318,887 (GRCm39) |
R9G |
probably benign |
Het |
| Cd300ld4 |
A |
T |
11: 114,913,533 (GRCm39) |
V174E |
probably benign |
Het |
| Cep85l |
T |
C |
10: 53,225,151 (GRCm39) |
D146G |
possibly damaging |
Het |
| Clip1 |
T |
C |
5: 123,751,675 (GRCm39) |
|
probably benign |
Het |
| Cog3 |
C |
T |
14: 75,950,716 (GRCm39) |
V719I |
possibly damaging |
Het |
| Col4a4 |
G |
A |
1: 82,484,671 (GRCm39) |
P532L |
unknown |
Het |
| Col6a4 |
C |
T |
9: 105,910,954 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
C |
T |
12: 110,632,521 (GRCm39) |
Q4547* |
probably null |
Het |
| Ergic1 |
G |
A |
17: 26,873,853 (GRCm39) |
|
probably benign |
Het |
| Foxn4 |
G |
A |
5: 114,394,916 (GRCm39) |
T337M |
possibly damaging |
Het |
| Gemin5 |
A |
T |
11: 58,047,566 (GRCm39) |
I336N |
probably damaging |
Het |
| Gm21905 |
A |
T |
5: 68,103,705 (GRCm39) |
|
probably null |
Het |
| Grik2 |
C |
A |
10: 49,411,532 (GRCm39) |
R202L |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,126,351 (GRCm39) |
D184G |
probably benign |
Het |
| Il11ra1 |
A |
T |
4: 41,765,421 (GRCm39) |
Q172L |
probably benign |
Het |
| Me2 |
G |
T |
18: 73,914,218 (GRCm39) |
|
probably null |
Het |
| Med24 |
A |
G |
11: 98,609,678 (GRCm39) |
V73A |
possibly damaging |
Het |
| Mmp24 |
A |
G |
2: 155,634,544 (GRCm39) |
Q88R |
probably damaging |
Het |
| Mroh3 |
A |
T |
1: 136,111,069 (GRCm39) |
V819E |
probably damaging |
Het |
| Mrps9 |
A |
G |
1: 42,937,706 (GRCm39) |
K247R |
probably benign |
Het |
| Myo15b |
G |
A |
11: 115,762,670 (GRCm39) |
R1254H |
|
Het |
| Ncoa5 |
A |
G |
2: 164,844,001 (GRCm39) |
L134P |
probably benign |
Het |
| Or4d5 |
A |
T |
9: 40,012,751 (GRCm39) |
F12I |
probably benign |
Het |
| Or51e2 |
C |
A |
7: 102,391,651 (GRCm39) |
L186F |
probably damaging |
Het |
| Or52a24 |
T |
C |
7: 103,382,024 (GRCm39) |
V297A |
probably null |
Het |
| Pdcd11 |
A |
G |
19: 47,086,665 (GRCm39) |
I224V |
probably benign |
Het |
| Ptprh |
C |
A |
7: 4,555,626 (GRCm39) |
|
probably null |
Het |
| Rab34 |
G |
T |
11: 78,080,978 (GRCm39) |
V63F |
probably damaging |
Het |
| Rack1 |
T |
C |
11: 48,692,592 (GRCm39) |
I71T |
probably benign |
Het |
| Rai14 |
G |
A |
15: 10,589,401 (GRCm39) |
R266* |
probably null |
Het |
| Rsph9 |
A |
G |
17: 46,440,382 (GRCm39) |
V238A |
probably benign |
Het |
| Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
| Sel1l3 |
A |
T |
5: 53,329,916 (GRCm39) |
C480S |
probably benign |
Het |
| Sh3pxd2a |
C |
T |
19: 47,256,562 (GRCm39) |
A747T |
probably benign |
Het |
| Slc1a3 |
T |
C |
15: 8,679,052 (GRCm39) |
N181S |
probably damaging |
Het |
| Slit1 |
T |
A |
19: 41,618,325 (GRCm39) |
K784* |
probably null |
Het |
| Sos2 |
T |
A |
12: 69,632,009 (GRCm39) |
Q1297L |
probably benign |
Het |
| Srd5a2 |
T |
A |
17: 74,334,114 (GRCm39) |
T102S |
probably benign |
Het |
| Ss18l2 |
A |
T |
9: 121,541,674 (GRCm39) |
I64F |
probably damaging |
Het |
| Tas2r120 |
T |
C |
6: 132,634,128 (GRCm39) |
F70S |
possibly damaging |
Het |
| Tjap1 |
G |
A |
17: 46,574,700 (GRCm39) |
A5V |
possibly damaging |
Het |
| Tln2 |
A |
T |
9: 67,269,929 (GRCm39) |
M488K |
possibly damaging |
Het |
| Tnks |
T |
G |
8: 35,305,701 (GRCm39) |
I42L |
probably benign |
Het |
| Togaram2 |
A |
T |
17: 72,016,563 (GRCm39) |
Q640L |
possibly damaging |
Het |
| Triobp |
C |
A |
15: 78,878,260 (GRCm39) |
Q1682K |
probably damaging |
Het |
| Trip11 |
C |
T |
12: 101,859,942 (GRCm39) |
E311K |
probably damaging |
Het |
| Ugt2b5 |
A |
G |
5: 87,287,655 (GRCm39) |
Y171H |
probably damaging |
Het |
| Vmn2r66 |
T |
C |
7: 84,644,766 (GRCm39) |
D548G |
possibly damaging |
Het |
| Zfp990 |
G |
T |
4: 145,263,205 (GRCm39) |
D68Y |
probably damaging |
Het |
| Zranb2 |
A |
T |
3: 157,242,370 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- ACGGTTGCTAGGTAAACATGTAAG -3'
(R):5'- GCAGCTCTTTTCCAGAAACTGC -3'
Sequencing Primer
(F):5'- GAGTTTCACATCACTAGTTAAATGCC -3'
(R):5'- CAGAAACTGCTCTTTACATTCAGCG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation