|Institutional Source||Beutler Lab|
|Gene Name||staphylococcal nuclease and tudor domain containing 1|
|Synonyms||p100 co-activator, Tudor-SN|
|Is this an essential gene?||Probably essential (E-score: 0.937)|
|Stock #||R5066 (G1)|
|Chromosomal Location||28475139-28935162 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 28888240 bp|
|Amino Acid Change||Asparagine to Lysine at position 891 (N891K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000001460 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000001460] [ENSMUST00000167201]|
|Predicted Effect||probably damaging
AA Change: N891K
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: N891K
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1577|
|Coding Region Coverage||
|Validation Efficiency||100% (45/45)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcriptional co-activator that interacts with the acidic domain of Epstein-Barr virus nuclear antigen 2 (EBNA 2), a transcriptional activator that is required for B-lymphocyte transformation. Other transcription factors that interact with this protein are signal transducers and activators of transcription, STATs. This protein is also thought to be essential for normal cell growth. A similar protein in mammals and other organisms is a component of the RNA-induced silencing complex (RISC). [provided by RefSeq, Jul 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snd1||
(F):5'- AGAGCACCTCCATCTTGACC -3'
(R):5'- CACGACAGAGGAGGTTTCTG -3'
(F):5'- AGCACCTCCATCTTGACCACTTC -3'
(R):5'- GGTTTCTGTACACTGAAGCAAGC -3'