Incidental Mutation 'IGL02025:Casp8'
| ID |
184131 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Casp8
|
| Ensembl Gene |
ENSMUSG00000026029 |
| Gene Name |
caspase 8 |
| Synonyms |
MACH, Caspase-8, Mch5, FLICE |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58863306 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 69
(I69L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127375
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027189]
[ENSMUST00000165549]
[ENSMUST00000190213]
[ENSMUST00000191201]
|
| AlphaFold |
O89110 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027189
AA Change: I69L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027189
Gene: ENSMUSG00000026029
AA Change: I69L
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
1 |
80 |
3.21e-23 |
SMART |
|
DED
|
99 |
178 |
1.01e-15 |
SMART |
|
CASc
|
227 |
480 |
2.13e-110 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000165549
AA Change: I69L
PolyPhen 2
Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000127375
Gene: ENSMUSG00000026029
AA Change: I69L
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
1 |
80 |
3.21e-23 |
SMART |
|
DED
|
99 |
178 |
1.01e-15 |
SMART |
|
CASc
|
227 |
480 |
2.13e-110 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190213
AA Change: I89L
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140335
Gene: ENSMUSG00000026029
AA Change: I89L
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
21 |
100 |
1.5e-25 |
SMART |
|
DED
|
119 |
198 |
5e-18 |
SMART |
|
CASc
|
247 |
500 |
1.1e-112 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191201
AA Change: I89L
PolyPhen 2
Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000140546
Gene: ENSMUSG00000026029
AA Change: I89L
| Domain | Start | End | E-Value | Type |
|---|
|
DED
|
21 |
100 |
1.5e-25 |
SMART |
|
DED
|
119 |
198 |
5e-18 |
SMART |
|
CASc
|
247 |
500 |
1.1e-112 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is part of a family of caspases, aspartate-specific cysteine proteases well studied for their involvement in immune and apoptosis signaling. This protein, an initiator of apoptotic cell death, is activated by death-inducing tumor necrosis family receptors and targets downstream effectors. In mouse deficiency of this gene can cause embryonic lethality. This protein may have a role in embryogenesis. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit impaired cardiac muscle development, cardiac erythrocyte congestion, low numbers of colony-forming cells, and prenatal lethality. T-cell restricted knockout mice are viable, but immunodeficient. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
T |
C |
18: 61,866,770 (GRCm39) |
|
probably benign |
Het |
| Akap6 |
A |
G |
12: 53,187,118 (GRCm39) |
T1511A |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,220,922 (GRCm39) |
E1274G |
probably damaging |
Het |
| Cfap47 |
A |
T |
X: 78,554,036 (GRCm39) |
S230R |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Depdc5 |
A |
G |
5: 33,103,976 (GRCm39) |
|
probably null |
Het |
| Dock5 |
A |
G |
14: 68,000,736 (GRCm39) |
S1656P |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,720,885 (GRCm39) |
S1707P |
probably damaging |
Het |
| Eddm3b |
T |
A |
14: 51,354,228 (GRCm39) |
V72D |
probably damaging |
Het |
| Etl4 |
A |
G |
2: 20,811,337 (GRCm39) |
D1508G |
probably damaging |
Het |
| Gm20489 |
A |
C |
X: 100,307,290 (GRCm39) |
V21G |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,302,056 (GRCm39) |
N22S |
probably damaging |
Het |
| Ksr1 |
T |
C |
11: 78,912,276 (GRCm39) |
|
probably null |
Het |
| Lrrc32 |
C |
T |
7: 98,148,767 (GRCm39) |
R516C |
probably benign |
Het |
| Naa25 |
T |
C |
5: 121,577,928 (GRCm39) |
V945A |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,197,751 (GRCm39) |
T501A |
probably benign |
Het |
| Npnt |
A |
C |
3: 132,596,523 (GRCm39) |
|
probably null |
Het |
| Nr1h5 |
G |
A |
3: 102,856,942 (GRCm39) |
|
probably benign |
Het |
| Opalin |
T |
C |
19: 41,060,674 (GRCm39) |
|
probably benign |
Het |
| Or10ak9 |
G |
A |
4: 118,726,362 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or2w6 |
A |
G |
13: 21,843,433 (GRCm39) |
V20A |
possibly damaging |
Het |
| Or9s13 |
A |
G |
1: 92,548,269 (GRCm39) |
I214V |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,840,101 (GRCm39) |
L341H |
probably damaging |
Het |
| Pnp2 |
T |
A |
14: 51,197,010 (GRCm39) |
L32H |
probably damaging |
Het |
| Prpf40b |
T |
C |
15: 99,212,469 (GRCm39) |
F571S |
probably damaging |
Het |
| Prss16 |
A |
G |
13: 22,187,191 (GRCm39) |
S460P |
probably damaging |
Het |
| Sh3bp4 |
T |
C |
1: 89,073,008 (GRCm39) |
S619P |
probably benign |
Het |
| Sirpb1b |
C |
T |
3: 15,613,863 (GRCm39) |
R73Q |
probably damaging |
Het |
| Slc22a8 |
G |
A |
19: 8,571,539 (GRCm39) |
G90E |
possibly damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,620,713 (GRCm39) |
R366W |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,484 (GRCm39) |
Y783* |
probably null |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
| Zfp7 |
C |
T |
15: 76,772,464 (GRCm39) |
S55F |
probably damaging |
Het |
|
| Other mutations in Casp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00684:Casp8
|
APN |
1 |
58,866,473 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00825:Casp8
|
APN |
1 |
58,868,165 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02549:Casp8
|
APN |
1 |
58,872,925 (GRCm39) |
missense |
probably benign |
|
|
amontillado
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Porto
|
UTSW |
1 |
58,872,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL02991:Casp8
|
UTSW |
1 |
58,866,438 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0609:Casp8
|
UTSW |
1 |
58,883,951 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0960:Casp8
|
UTSW |
1 |
58,868,172 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1433:Casp8
|
UTSW |
1 |
58,863,283 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1505:Casp8
|
UTSW |
1 |
58,868,081 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1506:Casp8
|
UTSW |
1 |
58,863,355 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1596:Casp8
|
UTSW |
1 |
58,870,833 (GRCm39) |
splice site |
probably benign |
|
|
R1674:Casp8
|
UTSW |
1 |
58,883,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1676:Casp8
|
UTSW |
1 |
58,883,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1981:Casp8
|
UTSW |
1 |
58,868,121 (GRCm39) |
splice site |
probably null |
|
|
R3909:Casp8
|
UTSW |
1 |
58,883,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Casp8
|
UTSW |
1 |
58,872,864 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4231:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4233:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4234:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4235:Casp8
|
UTSW |
1 |
58,872,857 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4236:Casp8
|
UTSW |
1 |
58,883,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Casp8
|
UTSW |
1 |
58,866,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Casp8
|
UTSW |
1 |
58,866,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5063:Casp8
|
UTSW |
1 |
58,883,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5092:Casp8
|
UTSW |
1 |
58,883,835 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5153:Casp8
|
UTSW |
1 |
58,884,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5964:Casp8
|
UTSW |
1 |
58,872,895 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5979:Casp8
|
UTSW |
1 |
58,868,071 (GRCm39) |
missense |
probably benign |
|
|
R7602:Casp8
|
UTSW |
1 |
58,872,898 (GRCm39) |
missense |
probably benign |
0.43 |
|
R7675:Casp8
|
UTSW |
1 |
58,863,106 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8272:Casp8
|
UTSW |
1 |
58,872,901 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8714:Casp8
|
UTSW |
1 |
58,872,812 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R8747:Casp8
|
UTSW |
1 |
58,883,617 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9279:Casp8
|
UTSW |
1 |
58,883,542 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Posted On |
2014-05-07 |
Incidental Mutation