|Institutional Source||Beutler Lab|
|Gene Name||CCAAT/enhancer binding protein zeta|
|Synonyms||Cebpa-rs1, Cbf, CBF2|
|Is this an essential gene?||Probably essential (E-score: 0.983)|
|Stock #||R1639 (G1)|
|Chromosomal Location||78919006-78937070 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 78934606 bp|
|Amino Acid Change||Isoleucine to Leucine at position 540 (I540L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000024885 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000024885] [ENSMUST00000024887]|
|Predicted Effect||possibly damaging
AA Change: I540L
PolyPhen 2 Score 0.487 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: I540L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.042|
|Coding Region Coverage||
|Validation Efficiency||96% (66/69)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the CEBP family. The encoded protein plays a role in cellular response to environmental stimuli through a transcriptional process that involves heat shock factors, conserved DNA elements (heat shock elements or HSEs) and CCAAT boxes. The protein acts as a DNA-binding transcriptional activator and regulates the heat-shock protein 70 (HSP70) promoter in a CCAAT-dependent manner. The protein is also involved in cell growth and differentiation, particularly, hematopoietic differentiation. Methylation of the promoter of this gene or mutations within the gene may be correlated with occurance of acute myeloid leukemia (AML). [provided by RefSeq, Jun 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cebpz||
(F):5'- CCAGTACATGGGCAGCAGATACAAG -3'
(R):5'- GCTCAGTGCGATTTTAACAGGGGTG -3'
(F):5'- ggtgcctatgtgaaatatgagtatg -3'
(R):5'- GGGTGAACAGAGCATACCCTTAC -3'