Incidental Mutation 'IGL00825:Casp8'
ID |
12509 |
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 # |
IGL00825
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58868165 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 202
(S202N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140546
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027189]
[ENSMUST00000165549]
[ENSMUST00000190213]
[ENSMUST00000191201]
|
AlphaFold |
O89110 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027189
AA Change: S182N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000027189 Gene: ENSMUSG00000026029 AA Change: S182N
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: ENSMUST00000165549
AA Change: S182N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000127375 Gene: ENSMUSG00000026029 AA Change: S182N
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: S202N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000140335 Gene: ENSMUSG00000026029 AA Change: S202N
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: S202N
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000140546 Gene: ENSMUSG00000026029 AA Change: S202N
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd3 |
C |
T |
18: 10,704,657 (GRCm39) |
V129M |
probably benign |
Het |
Cimap1c |
A |
G |
9: 56,758,975 (GRCm39) |
I60T |
probably benign |
Het |
Clec2g |
C |
A |
6: 128,957,144 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
C |
1: 46,263,811 (GRCm39) |
Y2098H |
probably damaging |
Het |
Dzip3 |
T |
C |
16: 48,748,778 (GRCm39) |
K1053E |
probably damaging |
Het |
Ern1 |
T |
C |
11: 106,312,793 (GRCm39) |
K196R |
probably benign |
Het |
Jcad |
A |
T |
18: 4,673,516 (GRCm39) |
Y426F |
probably damaging |
Het |
Kansl1l |
T |
C |
1: 66,840,671 (GRCm39) |
T210A |
probably benign |
Het |
Map2k2 |
G |
A |
10: 80,954,052 (GRCm39) |
V173I |
probably benign |
Het |
P3h2 |
A |
G |
16: 25,811,548 (GRCm39) |
I225T |
probably damaging |
Het |
Pld2 |
G |
A |
11: 70,442,006 (GRCm39) |
W337* |
probably null |
Het |
Ppp2r2b |
C |
T |
18: 42,778,840 (GRCm39) |
V429M |
probably damaging |
Het |
Pprc1 |
G |
T |
19: 46,059,845 (GRCm39) |
|
probably benign |
Het |
Ptpn4 |
A |
G |
1: 119,587,655 (GRCm39) |
|
probably benign |
Het |
Rap1gds1 |
T |
A |
3: 138,689,588 (GRCm39) |
I135F |
possibly damaging |
Het |
Rasa2 |
A |
T |
9: 96,452,772 (GRCm39) |
N371K |
probably benign |
Het |
Rbbp8 |
A |
G |
18: 11,855,664 (GRCm39) |
T604A |
probably benign |
Het |
Safb2 |
A |
G |
17: 56,878,208 (GRCm39) |
|
probably null |
Het |
Sec23ip |
C |
A |
7: 128,369,333 (GRCm39) |
L686I |
probably damaging |
Het |
Slc22a6 |
T |
C |
19: 8,595,721 (GRCm39) |
V21A |
possibly damaging |
Het |
Slco1c1 |
A |
T |
6: 141,487,868 (GRCm39) |
N79Y |
probably damaging |
Het |
Tbl1xr1 |
G |
T |
3: 22,243,950 (GRCm39) |
|
probably null |
Het |
Zfp961 |
T |
A |
8: 72,721,888 (GRCm39) |
C134S |
possibly 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 |
|
IGL02025:Casp8
|
APN |
1 |
58,863,306 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
2012-12-06 |