|Institutional Source||Beutler Lab|
|Gene Name||E1A binding protein p300|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R6925 (G1)|
|Chromosomal Location||81585351-81652077 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 81649981 bp|
|Amino Acid Change||Glutamine to Lysine at position 2080 (Q2080K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000066789 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000068387]|
|Predicted Effect||probably benign
AA Change: Q2080K
PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: Q2080K
|Coding Region Coverage||
|Validation Efficiency||100% (91/91)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the adenovirus E1A-associated cellular p300 transcriptional co-activator protein. It functions as histone acetyltransferase that regulates transcription via chromatin remodeling and is important in the processes of cell proliferation and differentiation. It mediates cAMP-gene regulation by binding specifically to phosphorylated CREB protein. This gene has also been identified as a co-activator of HIF1A (hypoxia-inducible factor 1 alpha), and thus plays a role in the stimulation of hypoxia-induced genes such as VEGF. Defects in this gene are a cause of Rubinstein-Taybi syndrome and may also play a role in epithelial cancer. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects of the heart, lung, and small intestine and die at midgestation; heterozygotes also show some embryonic loss. Heterozygotes for an acetyltransferase-negative mutation die by the neonatal period. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ep300||
(F):5'- GGTCAGCCTTTAAACATGGC -3'
(R):5'- ACTCATTGCTCCCATGGGTG -3'
(F):5'- TGGCTCCACAACCAGGATTG -3'
(R):5'- ACCTGCCTGCAGAGGATTCATG -3'