Incidental Mutation 'IGL02549:Casp8'
ID |
297985 |
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 # |
IGL02549
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
58834533-58886662 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 58872925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 287
(C287Y)
|
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: C267Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027189 Gene: ENSMUSG00000026029 AA Change: C267Y
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: C267Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000127375 Gene: ENSMUSG00000026029 AA Change: C267Y
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: C287Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140335 Gene: ENSMUSG00000026029 AA Change: C287Y
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: C287Y
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000140546 Gene: ENSMUSG00000026029 AA Change: C287Y
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
Adnp2 |
G |
A |
18: 80,172,333 (GRCm39) |
A692V |
probably damaging |
Het |
Ankk1 |
A |
G |
9: 49,329,993 (GRCm39) |
S321P |
probably damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,032 (GRCm39) |
Y1919C |
probably damaging |
Het |
Atp10a |
A |
G |
7: 58,469,481 (GRCm39) |
T1111A |
probably benign |
Het |
Avpr1a |
A |
T |
10: 122,288,069 (GRCm39) |
H359L |
possibly damaging |
Het |
C1rl |
A |
T |
6: 124,470,796 (GRCm39) |
I35F |
possibly damaging |
Het |
Ccdc88c |
A |
T |
12: 100,895,191 (GRCm39) |
S1437T |
probably benign |
Het |
Cd200r1 |
C |
T |
16: 44,610,341 (GRCm39) |
P150S |
probably damaging |
Het |
Col2a1 |
G |
A |
15: 97,875,680 (GRCm39) |
R1202C |
unknown |
Het |
Copb1 |
A |
T |
7: 113,846,032 (GRCm39) |
D179E |
probably benign |
Het |
Cyp2c29 |
C |
T |
19: 39,298,229 (GRCm39) |
T258I |
possibly damaging |
Het |
Flacc1 |
T |
C |
1: 58,698,441 (GRCm39) |
T326A |
probably benign |
Het |
Gemin5 |
T |
C |
11: 58,025,629 (GRCm39) |
Y991C |
probably damaging |
Het |
Gm4978 |
T |
C |
9: 69,357,641 (GRCm39) |
|
probably benign |
Het |
Gm7732 |
A |
T |
17: 21,349,649 (GRCm39) |
|
noncoding transcript |
Het |
Gucy2f |
T |
C |
X: 140,943,200 (GRCm39) |
I478V |
probably benign |
Het |
Herc1 |
A |
G |
9: 66,307,183 (GRCm39) |
H1001R |
probably damaging |
Het |
Igsf10 |
A |
G |
3: 59,236,662 (GRCm39) |
V1173A |
probably benign |
Het |
Kansl1l |
T |
C |
1: 66,841,127 (GRCm39) |
T58A |
probably benign |
Het |
Kcnk13 |
A |
T |
12: 100,028,010 (GRCm39) |
K362* |
probably null |
Het |
Lama1 |
T |
G |
17: 68,097,830 (GRCm39) |
L1737V |
possibly damaging |
Het |
Lama4 |
A |
G |
10: 38,936,200 (GRCm39) |
N625S |
probably benign |
Het |
Loxl1 |
A |
T |
9: 58,200,921 (GRCm39) |
C514S |
probably damaging |
Het |
Muc13 |
A |
C |
16: 33,628,339 (GRCm39) |
E363A |
probably damaging |
Het |
Noxo1 |
G |
T |
17: 24,919,145 (GRCm39) |
G289V |
probably damaging |
Het |
Nudt7 |
G |
T |
8: 114,878,688 (GRCm39) |
D239Y |
probably damaging |
Het |
Polr3e |
G |
T |
7: 120,538,982 (GRCm39) |
V407F |
probably damaging |
Het |
Pou5f2 |
T |
A |
13: 78,173,709 (GRCm39) |
L217Q |
probably damaging |
Het |
R3hdm2 |
A |
G |
10: 127,320,094 (GRCm39) |
|
probably benign |
Het |
Rab11fip3 |
A |
C |
17: 26,213,294 (GRCm39) |
N793K |
probably damaging |
Het |
Ranbp3l |
A |
G |
15: 8,997,925 (GRCm39) |
R6G |
possibly damaging |
Het |
Slco1a6 |
T |
A |
6: 142,042,141 (GRCm39) |
|
probably benign |
Het |
Sspo |
A |
G |
6: 48,428,707 (GRCm39) |
E374G |
possibly damaging |
Het |
Tg |
T |
C |
15: 66,711,210 (GRCm39) |
Y991H |
probably damaging |
Het |
Tnc |
A |
G |
4: 63,933,309 (GRCm39) |
Y652H |
probably damaging |
Het |
Trpc4 |
G |
A |
3: 54,129,770 (GRCm39) |
V179I |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,343,446 (GRCm39) |
T1896A |
probably benign |
Het |
Zfhx3 |
T |
C |
8: 109,527,141 (GRCm39) |
Y1013H |
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 |
IGL02025:Casp8
|
APN |
1 |
58,863,306 (GRCm39) |
missense |
possibly damaging |
0.81 |
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 |
2015-04-16 |