|Institutional Source||Beutler Lab|
|Gene Name||CCAAT/enhancer binding protein (C/EBP), delta|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4674 (G1)|
|Chromosomal Location||15887286-15891031 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 15887521 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 66 (D66G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000148145 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000040248] [ENSMUST00000096232]|
|Predicted Effect||probably benign
|Predicted Effect||probably damaging
AA Change: D66G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.5473|
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this intronless gene is a bZIP transcription factor which can bind as a homodimer to certain DNA regulatory regions. It can also form heterodimers with the related protein CEBP-alpha. The encoded protein is important in the regulation of genes involved in immune and inflammatory responses, and may be involved in the regulation of genes associated with activation and/or differentiation of macrophages. The cytogenetic location of this locus has been reported as both 8p11 and 8q11. [provided by RefSeq, Sep 2010]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and healthy and perform normally on several behavioral tasks, but display enhanced contextual fear conditioning. Mice homozygous for a second knock-out allele exhibit nearly normal or only slightly impaired adipocyte differentiation. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cebpd||
(F):5'- TTTTCAGCCTGGACAGCC -3'
(R):5'- AAGCTCACCACTGTCTGC -3'
(F):5'- CCTGGACAGCCCGGTGC -3'
(R):5'- ACTGTCTGCGCGCACAC -3'