Incidental Mutation 'IGL02248:Casp1'
| ID |
286286 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Casp1
|
| Ensembl Gene |
ENSMUSG00000025888 |
| Gene Name |
caspase 1 |
| Synonyms |
Caspase-1, Il1bc, interleukin 1 beta-converting enzyme, ICE |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02248
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
5298517-5307281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5299452 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 60
(H60Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027015
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027015]
|
| AlphaFold |
P29452 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027015
AA Change: H60Q
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000027015
Gene: ENSMUSG00000025888
AA Change: H60Q
| Domain | Start | End | E-Value | Type |
|---|
|
CARD
|
4 |
89 |
4.91e-19 |
SMART |
|
CASc
|
151 |
400 |
1.82e-136 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is a member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce 2 subunits, large and small, that dimerize to form the active enzyme. This gene was identified by its ability to proteolytically cleave and activate the inactive precursor of interleukin-1, a cytokine involved in the processes such as inflammation, septic shock, and wound healing. This gene has been shown to induce cell apoptosis and may function in various developmental stages. Studies of a similar gene in mouse suggest a role in the pathogenesis of Huntington disease. Alternative splicing results in transcript variants encoding distinct isoforms. [provided by RefSeq, Mar 2012]
PHENOTYPE: Homozygous targeted mutants fail to produce mature IL1A and IL1B and are resistant to LPS-induced endotoxin shock and to FAS antibody-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
A |
T |
4: 153,516,568 (GRCm39) |
S258T |
possibly damaging |
Het |
| Ap1g1 |
A |
G |
8: 110,590,065 (GRCm39) |
|
probably benign |
Het |
| B4galnt4 |
T |
C |
7: 140,647,721 (GRCm39) |
|
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,023,439 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
T |
C |
11: 49,071,625 (GRCm39) |
D66G |
probably benign |
Het |
| Clec4n |
T |
G |
6: 123,207,527 (GRCm39) |
S30R |
probably damaging |
Het |
| Col22a1 |
A |
G |
15: 71,671,297 (GRCm39) |
L1021P |
unknown |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Fbxw7 |
A |
G |
3: 84,810,940 (GRCm39) |
N22D |
possibly damaging |
Het |
| Frrs1l |
T |
A |
4: 56,968,272 (GRCm39) |
N167Y |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,813,116 (GRCm39) |
I3145K |
possibly damaging |
Het |
| Gcc1 |
G |
T |
6: 28,418,513 (GRCm39) |
R607S |
probably damaging |
Het |
| Gm14443 |
A |
T |
2: 175,012,107 (GRCm39) |
I113K |
probably benign |
Het |
| Ica1 |
T |
C |
6: 8,758,387 (GRCm39) |
|
probably benign |
Het |
| Igkv4-69 |
T |
A |
6: 69,261,305 (GRCm39) |
|
probably benign |
Het |
| Igkv9-120 |
G |
T |
6: 68,027,221 (GRCm39) |
C45F |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,313,152 (GRCm39) |
Y2483C |
probably damaging |
Het |
| Lrpprc |
A |
G |
17: 85,078,895 (GRCm39) |
L273S |
probably damaging |
Het |
| Myh9 |
A |
T |
15: 77,670,814 (GRCm39) |
L476Q |
probably damaging |
Het |
| Nab2 |
T |
C |
10: 127,499,109 (GRCm39) |
I390V |
probably benign |
Het |
| Notch4 |
A |
T |
17: 34,806,172 (GRCm39) |
D1756V |
probably damaging |
Het |
| Nup54 |
T |
C |
5: 92,576,188 (GRCm39) |
|
probably null |
Het |
| Or14c41 |
T |
A |
7: 86,235,312 (GRCm39) |
Y276* |
probably null |
Het |
| Or8k38 |
A |
T |
2: 86,488,061 (GRCm39) |
V247E |
probably damaging |
Het |
| Reln |
T |
C |
5: 22,115,990 (GRCm39) |
Y3006C |
probably damaging |
Het |
| Rpe65 |
T |
A |
3: 159,330,342 (GRCm39) |
L503Q |
probably damaging |
Het |
| Serinc5 |
A |
G |
13: 92,842,648 (GRCm39) |
D366G |
probably damaging |
Het |
| Slain1 |
A |
G |
14: 103,923,213 (GRCm39) |
D102G |
probably damaging |
Het |
| Smo |
A |
T |
6: 29,757,291 (GRCm39) |
I469F |
possibly damaging |
Het |
| Tomm70a |
T |
A |
16: 56,958,465 (GRCm39) |
S273T |
probably benign |
Het |
| Trak1 |
G |
T |
9: 121,275,860 (GRCm39) |
V281L |
probably damaging |
Het |
| Trib2 |
T |
C |
12: 15,843,967 (GRCm39) |
N225S |
possibly damaging |
Het |
| Vmn2r23 |
A |
T |
6: 123,718,703 (GRCm39) |
K685N |
probably damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,953,418 (GRCm39) |
H142Q |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,303 (GRCm39) |
I1037V |
possibly damaging |
Het |
|
| Other mutations in Casp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00235:Casp1
|
APN |
9 |
5,299,872 (GRCm39) |
splice site |
probably benign |
|
|
IGL00667:Casp1
|
APN |
9 |
5,303,756 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01998:Casp1
|
APN |
9 |
5,303,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02469:Casp1
|
APN |
9 |
5,303,105 (GRCm39) |
missense |
probably benign |
0.19 |
|
P0027:Casp1
|
UTSW |
9 |
5,299,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
PIT4305001:Casp1
|
UTSW |
9 |
5,306,135 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0724:Casp1
|
UTSW |
9 |
5,303,077 (GRCm39) |
missense |
probably benign |
|
|
R1169:Casp1
|
UTSW |
9 |
5,299,454 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1876:Casp1
|
UTSW |
9 |
5,303,663 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2316:Casp1
|
UTSW |
9 |
5,306,213 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2877:Casp1
|
UTSW |
9 |
5,303,110 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Casp1
|
UTSW |
9 |
5,299,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4043:Casp1
|
UTSW |
9 |
5,302,444 (GRCm39) |
missense |
probably benign |
|
|
R4367:Casp1
|
UTSW |
9 |
5,299,333 (GRCm39) |
missense |
probably benign |
0.41 |
|
R4656:Casp1
|
UTSW |
9 |
5,304,324 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4705:Casp1
|
UTSW |
9 |
5,306,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4790:Casp1
|
UTSW |
9 |
5,303,020 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4858:Casp1
|
UTSW |
9 |
5,306,742 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5607:Casp1
|
UTSW |
9 |
5,303,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5784:Casp1
|
UTSW |
9 |
5,299,337 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6578:Casp1
|
UTSW |
9 |
5,304,280 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7111:Casp1
|
UTSW |
9 |
5,299,816 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7215:Casp1
|
UTSW |
9 |
5,298,523 (GRCm39) |
splice site |
probably null |
|
|
R7590:Casp1
|
UTSW |
9 |
5,306,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8002:Casp1
|
UTSW |
9 |
5,303,164 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8510:Casp1
|
UTSW |
9 |
5,303,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8902:Casp1
|
UTSW |
9 |
5,299,333 (GRCm39) |
missense |
probably benign |
0.41 |
|
R9234:Casp1
|
UTSW |
9 |
5,303,128 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9471:Casp1
|
UTSW |
9 |
5,304,187 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9747:Casp1
|
UTSW |
9 |
5,299,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
T0722:Casp1
|
UTSW |
9 |
5,299,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0003:Casp1
|
UTSW |
9 |
5,299,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation