|Institutional Source||Beutler Lab|
|Gene Name||CCAAT/enhancer binding protein (C/EBP), epsilon|
|Synonyms||CRP1, C/EBPepsilon, LOC239097, C/EBPe|
|Is this an essential gene?||Possibly non essential (E-score: 0.406)|
|Stock #||R5497 (G1)|
|Chromosomal Location||54710360-54712174 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 54710595 bp|
|Amino Acid Change||Phenylalanine to Leucine at position 264 (F264L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000068927 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000064290]|
|Predicted Effect||probably benign
AA Change: F264L
PolyPhen 2 Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: F264L
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this 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-delta. The encoded protein may be essential for terminal differentiation and functional maturation of committed granulocyte progenitor cells. Mutations in this gene have been associated with Specific Granule Deficiency, a rare congenital disorder. Multiple variants of this gene have been described, but the full-length nature of only one has been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in impaired neutrophil and eosinophil development and myelodysplasia. Mutant animals are susceptible to secondary bacterial infections such as conjuntivitis, rhinitis, and pneumonia, and become moribund between 2-5 months of age. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cebpe||
(F):5'- AGTGCAGTTTATTCAGCCACAG -3'
(R):5'- AGATAGCCTGGAGTACCGAC -3'
(F):5'- TCAGCCACAGAATCATTTGGTC -3'
(R):5'- AGTACCGACTGCGACGTGAAC -3'