Incidental Mutation 'R6014:Casp8ap2'
| ID |
479899 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Casp8ap2
|
| Ensembl Gene |
ENSMUSG00000028282 |
| Gene Name |
caspase 8 associated protein 2 |
| Synonyms |
FLASH, D4Ertd659e |
| MMRRC Submission |
044190-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6014 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32615462-32653271 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 32641400 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Phenylalanine
at position 818
(Y818F)
|
| 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: Y818F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000029950
Gene: ENSMUSG00000028282
AA Change: Y818F
| 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 damaging
Transcript: ENSMUST00000178925
AA Change: Y818F
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136016
Gene: ENSMUSG00000028282
AA Change: Y818F
| 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 |
0.0926 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (67/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
T |
2: 35,244,881 (GRCm39) |
M157K |
probably benign |
Het |
| A2ml1 |
C |
T |
6: 128,548,948 (GRCm39) |
C278Y |
probably damaging |
Het |
| Abcc2 |
A |
T |
19: 43,815,174 (GRCm39) |
Q1187L |
probably benign |
Het |
| Adcy9 |
A |
T |
16: 4,236,683 (GRCm39) |
Y6N |
probably damaging |
Het |
| Adh1 |
T |
C |
3: 137,992,559 (GRCm39) |
I225T |
probably benign |
Het |
| Akap11 |
A |
T |
14: 78,749,939 (GRCm39) |
I816K |
probably benign |
Het |
| Ap1b1 |
T |
A |
11: 4,969,364 (GRCm39) |
M240K |
possibly damaging |
Het |
| Apex1 |
A |
T |
14: 51,162,982 (GRCm39) |
T17S |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,886,616 (GRCm39) |
G26D |
probably damaging |
Het |
| Bahcc1 |
A |
G |
11: 120,180,615 (GRCm39) |
Y2613C |
probably benign |
Het |
| Baz1b |
C |
T |
5: 135,246,248 (GRCm39) |
R566W |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,360,739 (GRCm39) |
C56* |
probably null |
Het |
| Coro2a |
G |
A |
4: 46,542,261 (GRCm39) |
P371S |
probably damaging |
Het |
| Cyp2a22 |
T |
A |
7: 26,638,605 (GRCm39) |
|
probably null |
Het |
| Dpysl3 |
T |
A |
18: 43,494,132 (GRCm39) |
I183F |
probably damaging |
Het |
| Drc1 |
A |
T |
5: 30,502,993 (GRCm39) |
N172I |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,303,915 (GRCm39) |
Y1378H |
probably damaging |
Het |
| Dync2i2 |
C |
T |
2: 29,921,763 (GRCm39) |
A533T |
probably benign |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Epb41l3 |
A |
T |
17: 69,590,955 (GRCm39) |
T91S |
probably damaging |
Het |
| Exoc4 |
T |
C |
6: 33,452,932 (GRCm39) |
V474A |
probably benign |
Het |
| Fam229b |
G |
A |
10: 38,994,989 (GRCm39) |
T56I |
probably damaging |
Het |
| Gfm2 |
A |
G |
13: 97,288,169 (GRCm39) |
|
probably null |
Het |
| Git2 |
C |
T |
5: 114,871,938 (GRCm39) |
E152K |
probably benign |
Het |
| Golt1b |
T |
A |
6: 142,341,943 (GRCm39) |
I109N |
probably damaging |
Het |
| Grid2ip |
T |
A |
5: 143,373,578 (GRCm39) |
M783K |
possibly damaging |
Het |
| Inpp5a |
A |
G |
7: 139,154,898 (GRCm39) |
Y339C |
probably damaging |
Het |
| Isoc2a |
T |
C |
7: 4,894,625 (GRCm39) |
S103P |
probably damaging |
Het |
| Itih4 |
C |
A |
14: 30,614,586 (GRCm39) |
Q483K |
probably benign |
Het |
| Kansl2 |
A |
G |
15: 98,418,197 (GRCm39) |
|
probably null |
Het |
| Kdm5d |
G |
A |
Y: 921,528 (GRCm39) |
A509T |
probably benign |
Het |
| Krt13 |
A |
T |
11: 100,008,437 (GRCm39) |
D433E |
unknown |
Het |
| Lat2 |
C |
T |
5: 134,632,308 (GRCm39) |
V142M |
probably damaging |
Het |
| Lemd1 |
A |
C |
1: 132,184,463 (GRCm39) |
*102S |
probably null |
Het |
| Lrfn2 |
T |
C |
17: 49,376,934 (GRCm39) |
L5P |
possibly damaging |
Het |
| Lrrc4c |
T |
G |
2: 97,459,557 (GRCm39) |
|
probably null |
Het |
| Lypla1 |
T |
A |
1: 4,878,594 (GRCm39) |
|
probably null |
Het |
| Magi2 |
G |
A |
5: 20,816,091 (GRCm39) |
G744R |
probably damaging |
Het |
| Myh14 |
T |
A |
7: 44,274,502 (GRCm39) |
E948V |
probably null |
Het |
| Myo5a |
C |
A |
9: 75,074,489 (GRCm39) |
Y799* |
probably null |
Het |
| Nacc1 |
A |
C |
8: 85,401,700 (GRCm39) |
M371R |
possibly damaging |
Het |
| Nlrp5 |
T |
G |
7: 23,109,372 (GRCm39) |
M106R |
probably benign |
Het |
| Oas1h |
C |
T |
5: 121,005,229 (GRCm39) |
H226Y |
possibly damaging |
Het |
| Obscn |
A |
C |
11: 58,929,690 (GRCm39) |
I5175R |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,878,497 (GRCm39) |
I684N |
probably damaging |
Het |
| Pcdhb3 |
T |
A |
18: 37,435,706 (GRCm39) |
N557K |
probably damaging |
Het |
| Pde3b |
T |
C |
7: 114,015,675 (GRCm39) |
L297S |
probably damaging |
Het |
| Pigv |
G |
T |
4: 133,392,740 (GRCm39) |
H143Q |
probably benign |
Het |
| Ptk2 |
T |
G |
15: 73,176,293 (GRCm39) |
Y251S |
possibly damaging |
Het |
| Ralgds |
A |
G |
2: 28,433,673 (GRCm39) |
N219S |
probably damaging |
Het |
| Sardh |
C |
A |
2: 27,087,540 (GRCm39) |
|
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,097,356 (GRCm39) |
K212N |
possibly damaging |
Het |
| Sh3bp2 |
A |
G |
5: 34,716,971 (GRCm39) |
N461D |
probably benign |
Het |
| Shisa2 |
A |
T |
14: 59,867,357 (GRCm39) |
Q203L |
probably damaging |
Het |
| Shmt1 |
C |
A |
11: 60,688,383 (GRCm39) |
G255V |
probably damaging |
Het |
| Socs1 |
T |
A |
16: 10,602,357 (GRCm39) |
I127F |
possibly damaging |
Het |
| Srcap |
A |
T |
7: 127,137,922 (GRCm39) |
T1091S |
probably benign |
Het |
| Syt14 |
A |
G |
1: 192,613,003 (GRCm39) |
I599T |
probably damaging |
Het |
| Tep1 |
A |
T |
14: 51,084,457 (GRCm39) |
N907K |
probably benign |
Het |
| Themis2 |
A |
G |
4: 132,513,291 (GRCm39) |
Y312H |
probably benign |
Het |
| Tubgcp5 |
T |
G |
7: 55,473,357 (GRCm39) |
S812A |
probably benign |
Het |
| Ush2a |
A |
T |
1: 188,582,237 (GRCm39) |
I3767F |
probably damaging |
Het |
| Usp40 |
T |
A |
1: 87,907,738 (GRCm39) |
E626V |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,566,620 (GRCm39) |
R1181G |
probably benign |
Het |
| Vmn2r117 |
T |
A |
17: 23,698,535 (GRCm39) |
I13F |
probably damaging |
Het |
| Wdr48 |
G |
T |
9: 119,753,775 (GRCm39) |
V646F |
probably damaging |
Het |
| Wdr64 |
T |
C |
1: 175,633,556 (GRCm39) |
F936L |
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 |
|
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 |
|
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'- CTTGCACCTTTGGTTGAAGAAC -3'
(R):5'- TTGTTCTAGGTGACAAAAGGACAAC -3'
Sequencing Primer
(F):5'- TCACTAGTAAACTGTTCGGGAGAC -3'
(R):5'- CTAGGTGACAAAAGGACAACTTATAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation