|Institutional Source||Beutler Lab|
|Gene Name||K(lysine) acetyltransferase 2B|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6993 (G1)|
|Chromosomal Location||53566861-53672720 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 53638522 bp|
|Amino Acid Change||Leucine to Proline at position 323 (L323P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000000724 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000000724] [ENSMUST00000164390]|
|Predicted Effect||probably damaging
AA Change: L323P
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: L323P
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.7198|
|Coding Region Coverage||
|Validation Efficiency||99% (66/67)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] CBP and p300 are large nuclear proteins that bind to many sequence-specific factors involved in cell growth and/or differentiation, including c-jun and the adenoviral oncoprotein E1A. The protein encoded by this gene associates with p300/CBP. It has in vitro and in vivo binding activity with CBP and p300, and competes with E1A for binding sites in p300/CBP. It has histone acetyl transferase activity with core histones and nucleosome core particles, indicating that this protein plays a direct role in transcriptional regulation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit no abrnomal phenotype. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Kat2b||
(F):5'- GAACTTGTCTCCTTCTTGCAGG -3'
(R):5'- CTGAGAGACTGTCCCACCAAAG -3'
(F):5'- CAGGTGGTTGTGCTACTGC -3'
(R):5'- GGCCAACAGCTTTAAATTATTAGAAG -3'