Incidental Mutation 'R1497:Casp8ap2'
ID |
168942 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Casp8ap2
|
Ensembl Gene |
ENSMUSG00000028282 |
Gene Name |
caspase 8 associated protein 2 |
Synonyms |
FLASH, D4Ertd659e |
MMRRC Submission |
039548-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1497 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 32639938 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 331
(S331P)
|
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: S331P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000029950 Gene: ENSMUSG00000028282 AA Change: S331P
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: S331P
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
SMART Domains |
Protein: ENSMUSP00000136016 Gene: ENSMUSG00000028282 AA Change: S331P
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 |
0.0594 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.4%
- 10x: 96.8%
- 20x: 94.4%
|
Validation Efficiency |
99% (79/80) |
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: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
G |
T |
11: 109,864,647 (GRCm39) |
|
probably benign |
Het |
Abhd17a |
A |
G |
10: 80,420,164 (GRCm39) |
|
probably benign |
Het |
Acacb |
G |
A |
5: 114,334,868 (GRCm39) |
E646K |
probably damaging |
Het |
Afap1l2 |
T |
C |
19: 56,916,743 (GRCm39) |
M262V |
probably benign |
Het |
Anapc7 |
T |
A |
5: 122,573,578 (GRCm39) |
|
probably benign |
Het |
Car5b |
T |
A |
X: 162,771,400 (GRCm39) |
K188N |
probably benign |
Het |
Caskin1 |
C |
T |
17: 24,723,515 (GRCm39) |
R768* |
probably null |
Het |
Ccdc68 |
C |
T |
18: 70,093,585 (GRCm39) |
|
probably benign |
Het |
Cd44 |
A |
T |
2: 102,673,300 (GRCm39) |
|
probably null |
Het |
Celsr3 |
A |
G |
9: 108,726,064 (GRCm39) |
S3090G |
probably benign |
Het |
Clasp1 |
A |
T |
1: 118,479,788 (GRCm39) |
M1023L |
probably benign |
Het |
Clec16a |
T |
C |
16: 10,453,123 (GRCm39) |
F608S |
probably damaging |
Het |
Col7a1 |
A |
C |
9: 108,807,893 (GRCm39) |
E2531A |
unknown |
Het |
Ctc1 |
T |
A |
11: 68,913,387 (GRCm39) |
C128S |
probably benign |
Het |
Cyp2d41-ps |
T |
C |
15: 82,666,223 (GRCm39) |
|
noncoding transcript |
Het |
Cyp2j6 |
T |
A |
4: 96,419,898 (GRCm39) |
I278F |
probably damaging |
Het |
Dhtkd1 |
A |
T |
2: 5,908,924 (GRCm39) |
S723R |
probably damaging |
Het |
Dhx8 |
A |
G |
11: 101,626,213 (GRCm39) |
|
probably benign |
Het |
Dnah17 |
A |
T |
11: 118,005,059 (GRCm39) |
L775Q |
probably damaging |
Het |
Dnah8 |
C |
A |
17: 30,971,049 (GRCm39) |
T2701K |
probably damaging |
Het |
Eml3 |
T |
A |
19: 8,913,733 (GRCm39) |
S424R |
probably damaging |
Het |
Epm2aip1 |
A |
G |
9: 111,101,315 (GRCm39) |
E96G |
possibly damaging |
Het |
Ezr |
T |
C |
17: 7,010,107 (GRCm39) |
H314R |
probably benign |
Het |
Fam193b |
G |
T |
13: 55,702,247 (GRCm39) |
H43Q |
probably damaging |
Het |
Fam217a |
T |
A |
13: 35,095,195 (GRCm39) |
N340I |
probably damaging |
Het |
Fcrl1 |
A |
T |
3: 87,292,109 (GRCm39) |
Q89H |
probably damaging |
Het |
Flg2 |
A |
T |
3: 93,127,076 (GRCm39) |
H1996L |
unknown |
Het |
Gabpb1 |
C |
T |
2: 126,481,169 (GRCm39) |
V327M |
possibly damaging |
Het |
Gtf3c3 |
A |
G |
1: 54,477,098 (GRCm39) |
V36A |
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,275,407 (GRCm39) |
N2739S |
probably damaging |
Het |
Hyal1 |
A |
G |
9: 107,455,194 (GRCm39) |
|
probably null |
Het |
Ipo13 |
T |
C |
4: 117,761,856 (GRCm39) |
D448G |
probably benign |
Het |
Kcnq5 |
T |
C |
1: 21,472,610 (GRCm39) |
D860G |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 64,973,715 (GRCm39) |
N355S |
probably damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,513 (GRCm39) |
H2199L |
possibly damaging |
Het |
Magi1 |
A |
G |
6: 93,724,310 (GRCm39) |
F235S |
probably damaging |
Het |
Maml1 |
A |
C |
11: 50,156,534 (GRCm39) |
M547R |
possibly damaging |
Het |
Mapk7 |
T |
C |
11: 61,384,689 (GRCm39) |
K6E |
possibly damaging |
Het |
Mbd5 |
T |
A |
2: 49,147,393 (GRCm39) |
N534K |
possibly damaging |
Het |
Mcat |
G |
A |
15: 83,433,453 (GRCm39) |
Q34* |
probably null |
Het |
Mcu |
T |
A |
10: 59,284,670 (GRCm39) |
D180V |
probably damaging |
Het |
Mettl21c |
G |
T |
1: 44,048,951 (GRCm39) |
P199T |
probably benign |
Het |
Mndal |
A |
T |
1: 173,700,441 (GRCm39) |
S177T |
probably benign |
Het |
Mpeg1 |
G |
T |
19: 12,438,611 (GRCm39) |
C23F |
probably benign |
Het |
Mup15 |
T |
A |
4: 61,356,471 (GRCm39) |
Y98F |
probably benign |
Het |
Myh8 |
T |
C |
11: 67,180,638 (GRCm39) |
S625P |
probably benign |
Het |
Nipsnap2 |
T |
C |
5: 129,830,282 (GRCm39) |
|
probably benign |
Het |
Nlrp4e |
T |
C |
7: 23,019,797 (GRCm39) |
S95P |
probably benign |
Het |
Or1e19 |
T |
A |
11: 73,316,653 (GRCm39) |
D52V |
possibly damaging |
Het |
Or4a66 |
T |
C |
2: 88,531,106 (GRCm39) |
D189G |
probably damaging |
Het |
Otop2 |
A |
G |
11: 115,220,675 (GRCm39) |
|
probably null |
Het |
Pcnx4 |
G |
C |
12: 72,621,174 (GRCm39) |
G998A |
probably benign |
Het |
Pnkd |
C |
A |
1: 74,390,681 (GRCm39) |
|
probably null |
Het |
Ppp4r4 |
T |
A |
12: 103,573,204 (GRCm39) |
V701E |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,616,727 (GRCm39) |
I3897T |
probably damaging |
Het |
Scn1a |
T |
C |
2: 66,162,631 (GRCm39) |
E205G |
probably damaging |
Het |
Sdk2 |
G |
A |
11: 113,784,401 (GRCm39) |
|
probably benign |
Het |
Serpinb5 |
A |
T |
1: 106,803,782 (GRCm39) |
Q156L |
probably benign |
Het |
Setdb1 |
A |
T |
3: 95,234,778 (GRCm39) |
V975D |
probably benign |
Het |
Shc1 |
A |
G |
3: 89,335,752 (GRCm39) |
*470W |
probably null |
Het |
Sik3 |
T |
A |
9: 46,113,320 (GRCm39) |
V587E |
probably damaging |
Het |
Sik3 |
C |
A |
9: 46,132,387 (GRCm39) |
H1276Q |
probably benign |
Het |
Spata7 |
T |
C |
12: 98,635,120 (GRCm39) |
I384T |
probably damaging |
Het |
Tanc2 |
T |
A |
11: 105,812,963 (GRCm39) |
V1469D |
probably benign |
Het |
Tasor2 |
T |
C |
13: 3,620,409 (GRCm39) |
E2164G |
probably damaging |
Het |
Tdrd5 |
A |
T |
1: 156,083,372 (GRCm39) |
N888K |
probably benign |
Het |
Tex22 |
T |
C |
12: 113,039,000 (GRCm39) |
S34P |
probably benign |
Het |
Tmed6 |
T |
C |
8: 107,790,754 (GRCm39) |
T98A |
probably benign |
Het |
Trim66 |
G |
A |
7: 109,083,826 (GRCm39) |
P141L |
probably benign |
Het |
Trpa1 |
T |
C |
1: 14,956,036 (GRCm39) |
I778V |
probably benign |
Het |
Urb2 |
T |
A |
8: 124,754,816 (GRCm39) |
H174Q |
probably damaging |
Het |
Usb1 |
T |
C |
8: 96,065,325 (GRCm39) |
V59A |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,394 (GRCm39) |
N19K |
probably damaging |
Het |
Vmn1r185 |
A |
T |
7: 26,311,219 (GRCm39) |
F95L |
probably benign |
Het |
Vmn1r206 |
C |
T |
13: 22,805,160 (GRCm39) |
V16M |
probably benign |
Het |
Vmn2r92 |
T |
C |
17: 18,387,625 (GRCm39) |
V210A |
probably benign |
Het |
Wdr17 |
A |
T |
8: 55,125,536 (GRCm39) |
I448K |
possibly damaging |
Het |
Zfp768 |
T |
A |
7: 126,942,733 (GRCm39) |
Q465L |
probably damaging |
Het |
Zfp804b |
T |
A |
5: 6,821,105 (GRCm39) |
N617Y |
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 |
|
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 |
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'- TGGCACTAGACATAGCCAGTGTAGC -3'
(R):5'- TGAAAGCCATGACTGTTCATCCCTC -3'
Sequencing Primer
(F):5'- AGCTGTAATGACAGTGAGCC -3'
(R):5'- GAAGCCGTAATGTTTCACGTC -3'
|
Posted On |
2014-04-13 |