|Institutional Source||Beutler Lab|
|Gene Name||caspase 1|
|Synonyms||ICE, Il1bc, Caspase-1, interleukin 1 beta-converting enzyme|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1876 (G1)|
|Chromosomal Location||5298517-5307265 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 5303663 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 250 (E250K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027015 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027015]|
|Predicted Effect||probably benign
AA Change: E250K
PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
AA Change: E250K
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||99% (82/83)|
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||
|Other mutations in Casp1||
(F):5'- ACTCCTTTTACTGTCCTTAGAGAAG -3'
(R):5'- GTTTGATATTCAGGAATCAACCCC -3'
(F):5'- ACTGTCCTTAGAGAAGTCAAAGTG -3'
(R):5'- TATTCAGGAATCAACCCCAAACACTG -3'