|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 #||R7626 (G1)|
|Chromosomal Location||119733784-120138045 bp(+) (GRCm38)|
|Type of Mutation||frame shift|
|DNA Base Change (assembly)||CGG to CG at 120097911 bp (GRCm38)|
|Amino Acid Change||at position 1141 (1141)|
|Ref Sequence||ENSEMBL: ENSMUSP00000101914 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000106307] [ENSMUST00000166542] [ENSMUST00000226560]|
AA Change: 1141
AA Change: 1141
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||100% (56/56)|
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'- AGATCTCTGTGGGCACTACG -3'
(R):5'- TGCAGTGCAAACTGGGATTG -3'
(F):5'- TCTGTGGGCACTACGCAAGG -3'
(R):5'- TTGCAGAGGGAGGAAATATCC -3'