|Institutional Source||Beutler Lab|
|Gene Name||cell death-inducing DNA fragmentation factor, alpha subunit-like effector A|
|Is this an essential gene?||Possibly non essential (E-score: 0.330)|
|Stock #||R1586 (G1)|
|Chromosomal Location||67343564-67367794 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 67360160 bp|
|Amino Acid Change||Valine to Glutamic Acid at position 83 (V83E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025404 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025404]|
|Predicted Effect||probably damaging
AA Change: V83E
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: V83E
|Meta Mutation Damage Score||0.1560|
|Coding Region Coverage||
|Validation Efficiency||93% (65/70)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the homolog of the mouse protein Cidea that has been shown to activate apoptosis. This activation of apoptosis is inhibited by the DNA fragmentation factor DFF45 but not by caspase inhibitors. Mice that lack functional Cidea have higher metabolic rates, higher lipolysis in brown adipose tissue and higher core body temperatures when subjected to cold. These mice are also resistant to diet-induced obesity and diabetes. This suggests that in mice this gene product plays a role in thermogenesis and lipolysis. Alternatively spliced transcripts have been identified. [provided by RefSeq, Aug 2010]
PHENOTYPE: Nullizygous mice show higher metabolic rate, lipolysis in BAT and core body temperature when subjected to cold treatment. They are lean and resistant to diet-induced obesity. Aging homozygotes exhibit dry eyes and hair, reduced sebaceous lipid secretion, hair loss, and poor water repulsion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cidea||
(F):5'- CGCATAACAGGCAGTCGTGGAAAC -3'
(R):5'- CAGTGCTAAACCAGACAGTACGCTC -3'
(F):5'- CTAGGGAGAGAGCACTCCATTC -3'
(R):5'- CAGTACGCTCATAGGTAGAATGTC -3'