|Institutional Source||Beutler Lab|
|Gene Name||human immunodeficiency virus type I enhancer binding protein 3|
|Synonyms||E030045D18Rik, Schnurri-3, Shn3, 2900056N03Rik, Krc|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2220 (G1)|
|Chromosomal Location||119733784-120138045 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 119734038 bp (GRCm38)|
|Amino Acid Change||Valine to Glycine at position 81 (V81G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000081330 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000084306]|
AA Change: V81G
PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: V81G
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the human immunodeficiency virus type 1 enhancer-binding protein family. Members of this protein family contain multiple zinc finger and acid-rich (ZAS) domains and serine-threonine rich regions. This protein acts as a transcription factor and is able to regulate nuclear factor kappaB-mediated transcription by binding the kappaB motif in target genes. This protein also binds the recombination signal sequence that flanks the V, D, and J regions of immunoglobulin and T-cell receptors. Alternate splicing results in both coding and non-coding transcript variants. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous mutation of this gene results in diminished IL-2 production by stimulated CD4 cells. Mice homozygous for a knock-out allele exhibit increased bone volume. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hivep3||
(F):5'- TCTCCCAGGCCAATCGAAAG -3'
(R):5'- TTCTCAGCAGGACTTCTGGACC -3'
(F):5'- TGTGGACTGAGCTTGACCC -3'
(R):5'- AGGACTTCTGGACCCGAGC -3'