Incidental Mutation 'R2316:Casp1'
ID |
245495 |
Institutional Source |
Beutler Lab
|
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 # |
R2316 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
5298517-5307281 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5306213 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 366
(D366G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027015
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027012]
[ENSMUST00000027015]
[ENSMUST00000160064]
[ENSMUST00000162846]
|
AlphaFold |
P29452 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027012
|
SMART Domains |
Protein: ENSMUSP00000027012 Gene: ENSMUSG00000033538
Domain | Start | End | E-Value | Type |
CARD
|
1 |
92 |
7.63e-7 |
SMART |
CASc
|
121 |
371 |
5.72e-134 |
SMART |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027015
AA Change: D366G
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000027015 Gene: ENSMUSG00000025888 AA Change: D366G
Domain | Start | End | E-Value | Type |
CARD
|
4 |
89 |
4.91e-19 |
SMART |
CASc
|
151 |
400 |
1.82e-136 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152651
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160064
|
SMART Domains |
Protein: ENSMUSP00000124249 Gene: ENSMUSG00000033538
Domain | Start | End | E-Value | Type |
CARD
|
1 |
89 |
4.7e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160521
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162846
|
SMART Domains |
Protein: ENSMUSP00000124402 Gene: ENSMUSG00000033538
Domain | Start | End | E-Value | Type |
Blast:CARD
|
2 |
36 |
2e-17 |
BLAST |
PDB:1IBC|A
|
18 |
94 |
6e-12 |
PDB |
SCOP:g1ibc.1
|
45 |
94 |
6e-15 |
SMART |
Blast:CASc
|
65 |
94 |
7e-13 |
BLAST |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563I02Rik |
A |
G |
14: 60,333,519 (GRCm39) |
|
probably benign |
Het |
Acaca |
T |
C |
11: 84,154,906 (GRCm39) |
M987T |
probably benign |
Het |
Acaca |
A |
G |
11: 84,185,809 (GRCm39) |
T115A |
possibly damaging |
Het |
Aknad1 |
A |
T |
3: 108,688,472 (GRCm39) |
D600V |
probably damaging |
Het |
Arfgef3 |
T |
A |
10: 18,492,701 (GRCm39) |
T1237S |
probably benign |
Het |
Brd4 |
A |
T |
17: 32,431,884 (GRCm39) |
L660Q |
probably benign |
Het |
Casp8ap2 |
C |
A |
4: 32,643,781 (GRCm39) |
S951R |
probably benign |
Het |
Chd9 |
A |
G |
8: 91,777,756 (GRCm39) |
E2589G |
probably damaging |
Het |
Dchs1 |
T |
C |
7: 105,413,411 (GRCm39) |
T1135A |
possibly damaging |
Het |
Dnhd1 |
T |
C |
7: 105,323,628 (GRCm39) |
V633A |
probably damaging |
Het |
Dock6 |
G |
T |
9: 21,750,973 (GRCm39) |
H400Q |
probably damaging |
Het |
Dzip1 |
A |
G |
14: 119,138,952 (GRCm39) |
F426L |
probably benign |
Het |
Elovl4 |
A |
G |
9: 83,662,826 (GRCm39) |
S236P |
probably damaging |
Het |
Emp1 |
T |
C |
6: 135,357,123 (GRCm39) |
F67S |
probably damaging |
Het |
Garnl3 |
A |
G |
2: 32,895,164 (GRCm39) |
L635P |
probably damaging |
Het |
Htr7 |
C |
A |
19: 35,946,703 (GRCm39) |
|
probably null |
Het |
Kcnd3 |
A |
C |
3: 105,576,442 (GRCm39) |
S629R |
probably benign |
Het |
Lrp2 |
T |
A |
2: 69,322,191 (GRCm39) |
I1913F |
possibly damaging |
Het |
Med19 |
T |
A |
2: 84,516,587 (GRCm39) |
D208E |
probably benign |
Het |
Mettl21c |
A |
T |
1: 44,052,792 (GRCm39) |
V75E |
probably damaging |
Het |
Nhsl3 |
T |
C |
4: 129,117,540 (GRCm39) |
T375A |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,381,779 (GRCm39) |
R64S |
probably damaging |
Het |
Or10g3b |
A |
G |
14: 52,587,395 (GRCm39) |
I36T |
probably benign |
Het |
Or51v8 |
A |
T |
7: 103,319,674 (GRCm39) |
I188N |
probably damaging |
Het |
Or5p50 |
T |
A |
7: 107,422,007 (GRCm39) |
Y223F |
probably benign |
Het |
Peds1 |
T |
A |
2: 167,496,635 (GRCm39) |
Q46L |
possibly damaging |
Het |
Plat |
T |
A |
8: 23,266,881 (GRCm39) |
M291K |
probably benign |
Het |
Psmb4 |
T |
C |
3: 94,792,322 (GRCm39) |
E200G |
probably benign |
Het |
Reln |
T |
C |
5: 22,359,954 (GRCm39) |
Y190C |
probably benign |
Het |
Rp1 |
A |
G |
1: 4,415,863 (GRCm39) |
S1750P |
probably damaging |
Het |
Slc5a4a |
T |
A |
10: 76,013,915 (GRCm39) |
|
probably null |
Het |
Sobp |
A |
T |
10: 43,034,034 (GRCm39) |
N97K |
possibly damaging |
Het |
Stac3 |
T |
C |
10: 127,339,229 (GRCm39) |
|
probably null |
Het |
Stat5b |
G |
T |
11: 100,687,318 (GRCm39) |
T436K |
probably damaging |
Het |
Tas1r3 |
A |
T |
4: 155,947,772 (GRCm39) |
M7K |
probably benign |
Het |
Vps13b |
C |
T |
15: 35,675,045 (GRCm39) |
Q1722* |
probably null |
Het |
Zfp677 |
A |
T |
17: 21,617,582 (GRCm39) |
Y213F |
probably benign |
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 |
IGL02248:Casp1
|
APN |
9 |
5,299,452 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CACCTAGAGTGGAAAGGCTAGATC -3'
(R):5'- TGCTCCATATTCTACCAAGGTAAAG -3'
Sequencing Primer
(F):5'- ATCTGTATCAAGGGTTAGGTCTATCC -3'
(R):5'- CACCATGTATGGATTGTTGA -3'
|
Posted On |
2014-10-30 |