Incidental Mutation 'R7945:Casp8ap2'
| ID |
649278 |
| 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 # |
R7945 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32645909 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1661
(T1661A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029950
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029950]
[ENSMUST00000108178]
[ENSMUST00000178925]
|
| AlphaFold |
Q9WUF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029950
AA Change: T1661A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: T1661A
| 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: T1661A
PolyPhen 2
Score 0.123 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: T1661A
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adprhl1 |
T |
A |
8: 13,271,929 (GRCm39) |
R1610W |
probably damaging |
Het |
| Afg3l1 |
C |
A |
8: 124,216,661 (GRCm39) |
A300E |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,839,190 (GRCm39) |
Y423C |
probably damaging |
Het |
| Armh4 |
T |
A |
14: 50,010,670 (GRCm39) |
T346S |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 37,020,042 (GRCm39) |
V2093I |
probably benign |
Het |
| Cdc42ep1 |
T |
A |
15: 78,731,973 (GRCm39) |
S139R |
possibly damaging |
Het |
| Cep57 |
A |
G |
9: 13,730,227 (GRCm39) |
Y104H |
probably damaging |
Het |
| Chrna4 |
T |
C |
2: 180,670,454 (GRCm39) |
D434G |
probably benign |
Het |
| Clec1a |
T |
C |
6: 129,409,150 (GRCm39) |
S159G |
probably benign |
Het |
| Cltc |
A |
T |
11: 86,627,967 (GRCm39) |
N60K |
probably benign |
Het |
| Cpq |
T |
A |
15: 33,594,382 (GRCm39) |
D464E |
probably benign |
Het |
| Ctcfl |
A |
C |
2: 172,960,451 (GRCm39) |
V44G |
probably benign |
Het |
| Dcstamp |
T |
A |
15: 39,623,797 (GRCm39) |
*471R |
probably null |
Het |
| Disp2 |
G |
A |
2: 118,623,270 (GRCm39) |
R1334H |
probably damaging |
Het |
| Dspp |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG |
5: 104,326,227 (GRCm39) |
|
probably benign |
Het |
| Ephb3 |
A |
G |
16: 21,040,434 (GRCm39) |
T811A |
probably damaging |
Het |
| Fbxo21 |
T |
C |
5: 118,146,212 (GRCm39) |
Y612H |
possibly damaging |
Het |
| Gm8005 |
T |
A |
14: 42,260,330 (GRCm39) |
D102V |
|
Het |
| Golgb1 |
T |
C |
16: 36,734,466 (GRCm39) |
S1279P |
probably benign |
Het |
| Hdgfl3 |
T |
C |
7: 81,583,706 (GRCm39) |
Y22C |
possibly damaging |
Het |
| Hpse2 |
T |
C |
19: 43,373,248 (GRCm39) |
N127S |
probably benign |
Het |
| Hrnr |
G |
T |
3: 93,239,506 (GRCm39) |
G3248V |
unknown |
Het |
| Krtap27-1 |
T |
C |
16: 88,468,340 (GRCm39) |
N68S |
probably benign |
Het |
| Lipo3 |
T |
C |
19: 33,533,831 (GRCm39) |
M334V |
probably benign |
Het |
| Lrrc34 |
A |
G |
3: 30,696,886 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
T |
G |
17: 75,697,546 (GRCm39) |
*1713G |
probably null |
Het |
| Lypd6b |
A |
G |
2: 49,833,612 (GRCm39) |
E84G |
probably damaging |
Het |
| Meiosin |
T |
A |
7: 18,834,011 (GRCm39) |
K508N |
unknown |
Het |
| Mitd1 |
T |
C |
1: 37,924,346 (GRCm39) |
Y68C |
probably damaging |
Het |
| Mrgprx2 |
T |
C |
7: 48,132,753 (GRCm39) |
T22A |
probably benign |
Het |
| Mroh4 |
C |
T |
15: 74,496,554 (GRCm39) |
E278K |
probably damaging |
Het |
| Mtmr4 |
T |
C |
11: 87,495,254 (GRCm39) |
V437A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,161,360 (GRCm39) |
D2144G |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,984,235 (GRCm39) |
E1740V |
probably damaging |
Het |
| Or2bd2 |
A |
G |
7: 6,443,354 (GRCm39) |
T152A |
probably benign |
Het |
| Or8i2 |
A |
G |
2: 86,852,657 (GRCm39) |
V77A |
probably benign |
Het |
| Pcsk1 |
G |
A |
13: 75,280,211 (GRCm39) |
A679T |
probably benign |
Het |
| Pdap1 |
G |
A |
5: 145,068,249 (GRCm39) |
A138V |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,455 (GRCm39) |
T958A |
probably damaging |
Het |
| Plekha5 |
T |
A |
6: 140,526,201 (GRCm39) |
H946Q |
possibly damaging |
Het |
| Ppat |
C |
A |
5: 77,063,238 (GRCm39) |
V458L |
probably benign |
Het |
| Rock1 |
A |
G |
18: 10,116,831 (GRCm39) |
L435P |
probably damaging |
Het |
| Rtn2 |
T |
A |
7: 19,020,987 (GRCm39) |
S153R |
probably benign |
Het |
| Serpinb1c |
A |
T |
13: 33,070,192 (GRCm39) |
H123Q |
probably benign |
Het |
| Slc1a5 |
C |
A |
7: 16,523,807 (GRCm39) |
R271S |
possibly damaging |
Het |
| Slc23a3 |
A |
G |
1: 75,106,040 (GRCm39) |
|
probably null |
Het |
| Slc7a6 |
C |
T |
8: 106,906,239 (GRCm39) |
P157L |
possibly damaging |
Het |
| Syne2 |
A |
T |
12: 75,951,079 (GRCm39) |
E410V |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,626,085 (GRCm39) |
S1288R |
probably benign |
Het |
| Thoc2l |
G |
T |
5: 104,666,413 (GRCm39) |
V312F |
possibly damaging |
Het |
| Treh |
T |
C |
9: 44,592,584 (GRCm39) |
V63A |
probably damaging |
Het |
| Trim50 |
T |
A |
5: 135,382,156 (GRCm39) |
W3R |
probably benign |
Het |
| Ttc6 |
T |
G |
12: 57,707,229 (GRCm39) |
L712R |
possibly damaging |
Het |
| Ttn |
G |
T |
2: 76,715,309 (GRCm39) |
Q7928K |
unknown |
Het |
| Ugt3a1 |
T |
C |
15: 9,284,261 (GRCm39) |
|
probably null |
Het |
| Wapl |
T |
C |
14: 34,399,105 (GRCm39) |
I58T |
probably benign |
Het |
| Zgrf1 |
A |
G |
3: 127,356,409 (GRCm39) |
E545G |
probably benign |
Het |
| Zmat4 |
T |
A |
8: 24,238,436 (GRCm39) |
I6N |
possibly damaging |
Het |
| Zp3r |
G |
T |
1: 130,524,560 (GRCm39) |
P226Q |
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 |
|
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 |
|
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'- CTCTATAGTACAAACACAGGTTCCAG -3'
(R):5'- CTTCAACAGCTAACACAGGTTC -3'
Sequencing Primer
(F):5'- ACAAACACAGGTTCCAGATATATATG -3'
(R):5'- ACTTGAAGCATCATGTGTCAAATC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation