|Institutional Source||Beutler Lab|
|Gene Name||SET domain, bifurcated 2|
|Essential gene?||Possibly essential (E-score: 0.562)|
|Stock #||R6388 (G1)|
|Chromosomal Location||59402009-59440884 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 59424697 bp (GRCm38)|
|Amino Acid Change||Threonine to Alanine at position 82 (T82A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093450 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000095775] [ENSMUST00000111253] [ENSMUST00000161459]|
AA Change: T82A
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: T82A
|Meta Mutation Damage Score||0.0846|
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
PHENOTYPE: Mice homozygous for a hypomorphic allele exhibit altered response to infection and improved patology following superinfection of influenza virus-infected mice with S. pneumonia. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Setdb2||
(F):5'- AAGGATGTCAGCACCACGC -3'
(R):5'- GCTATCACCAGTGTATTTTGAATAGTG -3'
(F):5'- GCCAATGCAGACACTATTTCAATG -3'
(R):5'- ACTCAGAGGTGTCCAGT -3'