|Institutional Source||Beutler Lab|
|Gene Name||zinc finger protein 280B|
|Is this an essential gene?||Possibly non essential (E-score: 0.297)|
|Stock #||R2027 (G1)|
|Chromosomal Location||76032650-76043234 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 76038494 bp|
|Amino Acid Change||Leucine to Serine at position 69 (L69S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056340 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000061617] [ENSMUST00000218627]|
|Predicted Effect||probably damaging
AA Change: L69S
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: L69S
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.296|
|Coding Region Coverage||
|Validation Efficiency||100% (70/70)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that upregulates expression of MDM2, which negatively regulates p53 expression. This gene is highly expressed in prostate cancer cells, which leads to a reduction in p53 levels and an increase in growth of the cancer cells. Several transcript variants have been found for this gene, but only one of them is protein-coding. [provided by RefSeq, Jan 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Zfp280b||
(F):5'- ACATCAGAAATGGAGCAGCC -3'
(R):5'- TCAGACTCGGACAAAGGCTC -3'
(F):5'- CAGCCATTCACGGTAGATGATG -3'
(R):5'- TCAATAGCAATAGGACTATCCGTCG -3'