|Institutional Source||Beutler Lab|
|Gene Name||caspase 7|
|Synonyms||caspase-7, ICE-IAP3, CMH-1, Mch3|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5665 (G1)|
|Chromosomal Location||56397129-56442344 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 56440982 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 267 (D267N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026062 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026062]|
|Predicted Effect||probably benign
AA Change: D267N
PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
AA Change: D267N
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes 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 two subunits, large and small, that dimerize to form the active enzyme. The precursor of the encoded protein is cleaved by caspase 3 and 10, is activated upon cell death stimuli and induces apoptosis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]
PHENOTYPE: Mice homozygous for a targeted mutation have normal appearance, organ morphology and lymphoid development. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Casp7||
(F):5'- TAGCTCTCAGGGTTGGCTAATG -3'
(R):5'- TTCTGGATATTTTGAGAGCATCGGAAC -3'
(F):5'- CAGGGTTGGCTAATGGATCTCCC -3'
(R):5'- CTTTGGTGAGCATGGACA -3'