Incidental Mutation 'R1625:Casp8ap2'
| ID |
174948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
039662-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1625 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 32648068 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 1925
(M1925K)
|
| 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: M1925K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: M1925K
| 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
AA Change: M153K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000103813
Gene: ENSMUSG00000028282
AA Change: M153K
| 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: M1925K
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: M1925K
| 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: 99.0%
- 3x: 98.1%
- 10x: 95.3%
- 20x: 89.1%
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,857,947 (GRCm39) |
M605L |
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,184,567 (GRCm39) |
S1031T |
probably damaging |
Het |
| Acot7 |
T |
A |
4: 152,270,748 (GRCm39) |
C31S |
probably benign |
Het |
| Acss3 |
A |
T |
10: 106,773,263 (GRCm39) |
|
probably null |
Het |
| Adipor1 |
T |
C |
1: 134,351,802 (GRCm39) |
F83S |
possibly damaging |
Het |
| Agrn |
G |
A |
4: 156,257,317 (GRCm39) |
S1171L |
probably damaging |
Het |
| Aoc1l1 |
T |
A |
6: 48,952,105 (GRCm39) |
L10Q |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,564,159 (GRCm39) |
C377S |
probably benign |
Het |
| Arid4b |
T |
A |
13: 14,361,699 (GRCm39) |
V721D |
probably damaging |
Het |
| Aspm |
G |
A |
1: 139,408,777 (GRCm39) |
A2555T |
probably benign |
Het |
| Atp6v0a1 |
T |
A |
11: 100,946,380 (GRCm39) |
L791Q |
probably damaging |
Het |
| Car11 |
A |
G |
7: 45,350,731 (GRCm39) |
K76E |
probably benign |
Het |
| Cc2d1a |
A |
T |
8: 84,866,001 (GRCm39) |
L418Q |
probably damaging |
Het |
| Ccl9 |
G |
A |
11: 83,466,736 (GRCm39) |
R64W |
probably damaging |
Het |
| Cfap20dc |
A |
G |
14: 8,431,668 (GRCm38) |
Y655H |
probably damaging |
Het |
| Cfap43 |
T |
A |
19: 47,739,527 (GRCm39) |
K1325N |
probably damaging |
Het |
| Dars2 |
G |
A |
1: 160,881,614 (GRCm39) |
P305L |
possibly damaging |
Het |
| Ddx11 |
C |
T |
17: 66,457,692 (GRCm39) |
T859I |
probably benign |
Het |
| Dock7 |
C |
T |
4: 98,850,433 (GRCm39) |
|
probably null |
Het |
| Efcab6 |
A |
G |
15: 83,831,839 (GRCm39) |
V570A |
probably benign |
Het |
| Fermt1 |
T |
A |
2: 132,764,751 (GRCm39) |
I369F |
probably damaging |
Het |
| Fras1 |
A |
G |
5: 96,861,849 (GRCm39) |
Y2161C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,857,837 (GRCm39) |
P2044T |
possibly damaging |
Het |
| Gucy1a1 |
T |
C |
3: 82,009,362 (GRCm39) |
I549V |
probably benign |
Het |
| Hspg2 |
G |
A |
4: 137,246,282 (GRCm39) |
S1020N |
probably benign |
Het |
| Kif21a |
A |
G |
15: 90,826,378 (GRCm39) |
S1360P |
probably damaging |
Het |
| Lrp3 |
T |
C |
7: 34,903,350 (GRCm39) |
Y332C |
probably damaging |
Het |
| Ltc4s |
C |
A |
11: 50,128,215 (GRCm39) |
A32S |
possibly damaging |
Het |
| Mgrn1 |
T |
C |
16: 4,728,627 (GRCm39) |
L84P |
probably damaging |
Het |
| Muc2 |
C |
G |
7: 141,283,405 (GRCm39) |
C672W |
probably damaging |
Het |
| Mvp |
A |
T |
7: 126,600,845 (GRCm39) |
V52E |
probably damaging |
Het |
| Ndrg2 |
T |
C |
14: 52,144,420 (GRCm39) |
T269A |
probably damaging |
Het |
| Notch2 |
T |
A |
3: 98,018,891 (GRCm39) |
D684E |
probably damaging |
Het |
| Nup205 |
A |
G |
6: 35,168,878 (GRCm39) |
D316G |
probably benign |
Het |
| Or12e7 |
T |
A |
2: 87,288,016 (GRCm39) |
I169K |
probably damaging |
Het |
| Or2v2 |
T |
C |
11: 49,004,071 (GRCm39) |
M161V |
probably benign |
Het |
| Or7d11 |
A |
G |
9: 19,966,678 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk1 |
A |
T |
13: 75,274,971 (GRCm39) |
D520V |
probably benign |
Het |
| Pik3cg |
A |
T |
12: 32,244,741 (GRCm39) |
D904E |
probably damaging |
Het |
| Pitpnm2 |
T |
A |
5: 124,271,496 (GRCm39) |
D359V |
probably benign |
Het |
| Ppih |
T |
C |
4: 119,175,779 (GRCm39) |
I69V |
probably damaging |
Het |
| Rab11fip3 |
T |
C |
17: 26,287,865 (GRCm39) |
E96G |
possibly damaging |
Het |
| Retreg3 |
C |
A |
11: 100,992,875 (GRCm39) |
M1I |
probably null |
Het |
| Rfpl4 |
C |
T |
7: 5,118,409 (GRCm39) |
V54I |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,993,652 (GRCm39) |
I855T |
probably benign |
Het |
| Rrm1 |
T |
A |
7: 102,117,554 (GRCm39) |
I748N |
probably damaging |
Het |
| Sap130 |
T |
A |
18: 31,807,517 (GRCm39) |
N441K |
probably damaging |
Het |
| Sf3b1 |
T |
A |
1: 55,058,536 (GRCm39) |
I18F |
probably damaging |
Het |
| Skor2 |
A |
G |
18: 76,946,499 (GRCm39) |
N74D |
unknown |
Het |
| Slc17a6 |
C |
A |
7: 51,311,208 (GRCm39) |
F307L |
probably benign |
Het |
| Slc25a13 |
G |
A |
6: 6,096,675 (GRCm39) |
L410F |
probably damaging |
Het |
| Slc47a1 |
A |
T |
11: 61,262,625 (GRCm39) |
V38E |
probably damaging |
Het |
| Slc8a1 |
T |
A |
17: 81,956,670 (GRCm39) |
T123S |
probably damaging |
Het |
| Slc9a5 |
C |
A |
8: 106,094,755 (GRCm39) |
T782K |
possibly damaging |
Het |
| Spmip7 |
C |
A |
11: 11,438,644 (GRCm39) |
|
probably benign |
Het |
| Sppl2c |
C |
A |
11: 104,077,995 (GRCm39) |
T265K |
probably damaging |
Het |
| Srfbp1 |
A |
G |
18: 52,621,788 (GRCm39) |
K283R |
probably benign |
Het |
| Ssr1 |
C |
T |
13: 38,173,479 (GRCm39) |
|
probably null |
Het |
| Stard3nl |
T |
C |
13: 19,556,754 (GRCm39) |
|
probably null |
Het |
| Timeless |
G |
T |
10: 128,076,493 (GRCm39) |
S134I |
probably damaging |
Het |
| Tll1 |
A |
G |
8: 64,494,476 (GRCm39) |
F760L |
probably damaging |
Het |
| Tspear |
A |
G |
10: 77,706,333 (GRCm39) |
I368V |
probably benign |
Het |
| Txnrd2 |
G |
T |
16: 18,257,116 (GRCm39) |
W144L |
probably damaging |
Het |
| Unc5d |
T |
C |
8: 29,173,234 (GRCm39) |
E668G |
probably damaging |
Het |
| Urb1 |
C |
T |
16: 90,570,936 (GRCm39) |
|
probably null |
Het |
| Uts2r |
A |
G |
11: 121,052,033 (GRCm39) |
Y299C |
probably damaging |
Het |
| Vmn1r66 |
G |
T |
7: 10,008,316 (GRCm39) |
T239K |
probably benign |
Het |
| Vps39 |
C |
T |
2: 120,154,106 (GRCm39) |
V630M |
probably damaging |
Het |
| Wrn |
T |
C |
8: 33,819,158 (GRCm39) |
T22A |
probably benign |
Het |
| Zfp7 |
T |
A |
15: 76,765,374 (GRCm39) |
D22E |
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 |
|
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'- AGTTCCCTGTCACAGTCACCGA -3'
(R):5'- TGCCTCTGGGTTTAATCTCCAGCAT -3'
Sequencing Primer
(F):5'- GACCTAGCTTGTTTCTTGACTAGAAC -3'
(R):5'- GTACAAAGCTGGGTAATTACCTG -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation