|Institutional Source||Beutler Lab|
|Gene Name||DNA fragmentation factor, beta subunit|
|Synonyms||5730477D02Rik, caspase-activated DNase, Didff, CAD, CPAN, DFF40, 40kDa|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R7395 (G1)|
|Chromosomal Location||153964449-153975126 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 153969113 bp|
|Amino Acid Change||Serine to Arginine at position 257 (S257R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000030893 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000030893] [ENSMUST00000133607]|
NMR STRUCTURE OF THE CAD DOMAIN OF CASPASE-ACTIVATED DNASE [SOLUTION NMR]
NMR STRUCTURE OF THE HETERODIMERIC COMPLEX BETWEEN CAD DOMAINS OF CAD AND ICAD [SOLUTION NMR]
CRYSTAL STRUCTURE OF CASPASE-ACTIVATED DNASE (CAD) [X-RAY DIFFRACTION]
|Predicted Effect||probably damaging
AA Change: S257R
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: S257R
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||99% (92/93)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoptosis is a cell death process that removes toxic and/or useless cells during mammalian development. The apoptotic process is accompanied by shrinkage and fragmentation of the cells and nuclei and degradation of the chromosomal DNA into nucleosomal units. DNA fragmentation factor (DFF) is a heterodimeric protein of 40-kD (DFFB) and 45-kD (DFFA) subunits. DFFA is the substrate for caspase-3 and triggers DNA fragmentation during apoptosis. DFF becomes activated when DFFA is cleaved by caspase-3. The cleaved fragments of DFFA dissociate from DFFB, the active component of DFF. DFFB has been found to trigger both DNA fragmentation and chromatin condensation during apoptosis. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene but the biological validity of some of these variants has not been determined. [provided by RefSeq, Sep 2013]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and developmentally normal; however, mutant thymocytes and other cell types fail to undergo apoptotic DNA fragmentation in response to dexamethasone or other apoptotic stimuli. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Dffb||
(F):5'- CCCTTAGTGGCCAAAATGGG -3'
(R):5'- AGTCAGTTCCTGCAAGCTTG -3'
(F):5'- CTGGTAGGACAGAAGCATCTCTC -3'
(R):5'- CAGTTCCTGCAAGCTTGATGGG -3'