Incidental Mutation 'R0027:Casp8ap2'
| ID |
44502 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
038322-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0027 (G1)
of strain
730
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 32643810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 961
(H961R)
|
| 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: H961R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: H961R
| 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: H961R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: H961R
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
98% (65/66) |
| 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 |
|---|
| Adamts12 |
A |
T |
15: 11,285,959 (GRCm39) |
I723F |
probably damaging |
Het |
| Anapc1 |
G |
T |
2: 128,483,431 (GRCm39) |
D1221E |
possibly damaging |
Het |
| Arhgef28 |
T |
A |
13: 98,082,204 (GRCm39) |
E1201V |
possibly damaging |
Het |
| Capn12 |
T |
A |
7: 28,581,385 (GRCm39) |
H79Q |
probably benign |
Het |
| Caprin1 |
A |
T |
2: 103,605,925 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
A |
14: 55,731,860 (GRCm39) |
F196Y |
probably damaging |
Het |
| Cdkl3 |
C |
T |
11: 51,923,176 (GRCm39) |
|
probably benign |
Het |
| Cic |
T |
A |
7: 24,986,565 (GRCm39) |
S1299T |
probably damaging |
Het |
| Cic |
C |
A |
7: 24,986,566 (GRCm39) |
S1299Y |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,685,940 (GRCm39) |
L684P |
unknown |
Het |
| D430041D05Rik |
A |
T |
2: 104,085,389 (GRCm39) |
F1053L |
probably benign |
Het |
| Dab1 |
T |
C |
4: 104,561,396 (GRCm39) |
|
probably benign |
Het |
| Dmxl1 |
A |
T |
18: 50,090,362 (GRCm39) |
|
probably benign |
Het |
| Dst |
C |
T |
1: 34,228,200 (GRCm39) |
P1606L |
probably damaging |
Het |
| Eml1 |
T |
C |
12: 108,502,557 (GRCm39) |
C708R |
possibly damaging |
Het |
| Fam131b |
T |
A |
6: 42,295,182 (GRCm39) |
M304L |
probably benign |
Het |
| Foxk1 |
A |
T |
5: 142,436,095 (GRCm39) |
I321F |
probably damaging |
Het |
| Gm10306 |
C |
T |
4: 94,445,027 (GRCm39) |
|
probably benign |
Het |
| Gm10985 |
TA |
TANA |
3: 53,752,677 (GRCm39) |
|
probably null |
Het |
| Gse1 |
T |
C |
8: 121,293,285 (GRCm39) |
|
probably benign |
Het |
| Hcn3 |
A |
G |
3: 89,067,132 (GRCm39) |
S79P |
probably damaging |
Het |
| Hspa4 |
T |
A |
11: 53,174,412 (GRCm39) |
M203L |
probably benign |
Het |
| Ints15 |
G |
A |
5: 143,293,817 (GRCm39) |
T220I |
probably damaging |
Het |
| Kctd7 |
G |
A |
5: 130,181,414 (GRCm39) |
R279H |
probably damaging |
Het |
| Kif11 |
C |
T |
19: 37,395,431 (GRCm39) |
|
probably benign |
Het |
| Klf13 |
T |
C |
7: 63,541,509 (GRCm39) |
N206S |
probably benign |
Het |
| Kpna7 |
A |
T |
5: 144,926,507 (GRCm39) |
Y482N |
probably damaging |
Het |
| Lamc1 |
T |
C |
1: 153,138,329 (GRCm39) |
Y175C |
probably damaging |
Het |
| Lrpprc |
G |
A |
17: 85,074,435 (GRCm39) |
R491* |
probably null |
Het |
| Madd |
T |
A |
2: 90,982,894 (GRCm39) |
I1350F |
probably damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,815,375 (GRCm39) |
V321A |
possibly damaging |
Het |
| Mon2 |
G |
A |
10: 122,871,953 (GRCm39) |
S357L |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,465,162 (GRCm39) |
V270A |
probably damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,325,447 (GRCm39) |
T742A |
probably damaging |
Het |
| Nopchap1 |
G |
A |
10: 83,200,393 (GRCm39) |
|
probably benign |
Het |
| Or6d14 |
T |
C |
6: 116,533,910 (GRCm39) |
S175P |
probably damaging |
Het |
| Papola |
A |
C |
12: 105,799,395 (GRCm39) |
S675R |
probably benign |
Het |
| Pcdh9 |
T |
A |
14: 94,126,081 (GRCm39) |
I30F |
probably null |
Het |
| Prl6a1 |
T |
A |
13: 27,502,011 (GRCm39) |
L126Q |
probably damaging |
Het |
| Prr29 |
A |
G |
11: 106,267,102 (GRCm39) |
E89G |
possibly damaging |
Het |
| Psmd1 |
T |
C |
1: 86,021,987 (GRCm39) |
|
probably benign |
Het |
| Rad9b |
A |
G |
5: 122,489,786 (GRCm39) |
|
probably benign |
Het |
| Rest |
T |
C |
5: 77,430,398 (GRCm39) |
V939A |
probably benign |
Het |
| Rnf135 |
T |
A |
11: 80,084,768 (GRCm39) |
S180R |
probably benign |
Het |
| Sarm1 |
C |
A |
11: 78,378,917 (GRCm39) |
R376L |
probably damaging |
Het |
| Scap |
C |
A |
9: 110,208,798 (GRCm39) |
P613Q |
probably benign |
Het |
| Scube3 |
C |
T |
17: 28,383,331 (GRCm39) |
R374* |
probably null |
Het |
| Setx |
T |
G |
2: 29,029,233 (GRCm39) |
V167G |
probably damaging |
Het |
| Snrnp40 |
T |
A |
4: 130,262,066 (GRCm39) |
H151Q |
probably damaging |
Het |
| Sox21 |
G |
T |
14: 118,473,029 (GRCm39) |
H7N |
probably benign |
Het |
| Stard9 |
A |
T |
2: 120,533,982 (GRCm39) |
Q3413L |
probably benign |
Het |
| Sycp1 |
A |
G |
3: 102,803,226 (GRCm39) |
V528A |
probably benign |
Het |
| Tcl1b3 |
A |
T |
12: 105,157,498 (GRCm39) |
S47C |
probably damaging |
Het |
| Treml4 |
T |
C |
17: 48,571,962 (GRCm39) |
S122P |
possibly damaging |
Het |
| Trip11 |
C |
T |
12: 101,851,428 (GRCm39) |
A879T |
probably benign |
Het |
| Ubr4 |
C |
A |
4: 139,127,704 (GRCm39) |
N567K |
probably damaging |
Het |
| Zan |
T |
C |
5: 137,404,781 (GRCm39) |
|
probably benign |
Het |
| Zfp804a |
G |
A |
2: 82,087,544 (GRCm39) |
D458N |
probably damaging |
Het |
| Zic2 |
T |
C |
14: 122,713,755 (GRCm39) |
M223T |
possibly 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 |
|
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 |
|
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'- TGTGTTCAGGATGCAAATGTCAAATGG -3'
(R):5'- TGCATAACCTCCCACAGGGAAGAG -3'
Sequencing Primer
(F):5'- GTCAAATGGCTAATACTCAGTGG -3'
(R):5'- CCACAGGGAAGAGGGTACAAG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation