|Institutional Source||Beutler Lab|
|Gene Name||CCAAT/enhancer binding protein (C/EBP), alpha|
|Synonyms||Cebp, C/ebpalpha, C/EBP alpha|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7957 (G1)|
|Chromosomal Location||35119293-35121928 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 35120442 bp|
|Amino Acid Change||Isoleucine to Valine at position 342 (I342V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096129 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042985] [ENSMUST00000205391]|
|Predicted Effect||possibly damaging
AA Change: I342V
PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: I342V
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
FUNCTION: This intronless gene encodes a transcription factor that contains a basic leucine zipper (bZIP) domain and recognizes the CCAAT motif in the promoters of target genes. The encoded protein functions in homodimers and also heterodimers with CCAAT/enhancer-binding proteins beta and gamma. Activity of this protein can modulate the expression of genes involved in cell cycle regulation as well as in body weight homeostasis. The use of alternative in-frame non-AUG (CUG) and AUG start codons results in several protein isoforms with different lengths. Differential translation initiation is mediated by an out-of-frame, upstream open reading frame which is located between the CUG and the first AUG start codons. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit defects of the liver, neutrophils, lung, and brown fat, resulting in impaired glycogen storage and lipid accumulation, hypoglycemia, reduced uncoupling protein, and neonatal lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cebpa||
(F):5'- AGCAACGAGTACCGGGTAC -3'
(R):5'- TCTTAGACGCACCGAGTCCG -3'
(F):5'- TGGAGTTGACCAGTGACA -3'
(R):5'- AGCAGGCCAGGCTTTCAG -3'