|Institutional Source||Beutler Lab|
|Gene Name||SET domain containing 2|
|Is this an essential gene?||Probably essential (E-score: 0.956)|
|Stock #||R6244 (G1)|
|Chromosomal Location||110532597-110618633 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 110548665 bp|
|Amino Acid Change||Arginine to Lysine at position 516 (R516K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000116313 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000153838]|
|Predicted Effect||probably damaging
AA Change: R516K
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: R516K
AA Change: R232K
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.224|
|Coding Region Coverage||
|Validation Efficiency||96% (82/85)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Huntington's disease (HD), a neurodegenerative disorder characterized by loss of striatal neurons, is caused by an expansion of a polyglutamine tract in the HD protein huntingtin. This gene encodes a protein belonging to a class of huntingtin interacting proteins characterized by WW motifs. This protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired embryonic vascular remodeling in the embryo proper, yolk sac, and placenta that leads to death around E10.5. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Setd2||
(F):5'- GAGAGCTCAGACTCTGAAGATG -3'
(R):5'- CTTTTGAACAAGGAGTCTGCAAAC -3'
(F):5'- GCTCAGACTCTGAAGATGAGTATAAG -3'
(R):5'- TTGAACAAGGAGTCTGCAAACTAAAC -3'