|Institutional Source||Beutler Lab|
|Gene Name||human immunodeficiency virus type I enhancer binding protein 1|
|Is this an essential gene?||Possibly essential (E-score: 0.587)|
|Stock #||R3718 (G1)|
|Chromosomal Location||42052021-42192537 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 42158495 bp|
|Amino Acid Change||Histidine to Tyrosine at position 1404 (H1404Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000056147 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000060148] [ENSMUST00000220525]|
|Predicted Effect||probably damaging
AA Change: H1404Y
PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
AA Change: H1404Y
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1356|
|Coding Region Coverage||
|Validation Efficiency||97% (36/37)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor belonging to the ZAS family, members of which are large proteins that contain a ZAS domain - a modular protein structure consisting of a pair of C2H2 zinc fingers with an acidic-rich region and a serine/threonine-rich sequence. These proteins bind specifically to the DNA sequence motif, GGGACTTTCC, found in the enhancer elements of several viral promoters, including human immunodeficiency virus (HIV), and to related sequences found in the enhancer elements of a number of cellular promoters. This protein binds to this sequence motif, suggesting a role in the transcriptional regulation of both viral and cellular genes. [provided by RefSeq, Oct 2011]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Hivep1||
(F):5'- ACTGGGTTCAAACACACTGAG -3'
(R):5'- ACAGTATGTGCAGGGCAGTC -3'
(F):5'- ACTGAGTGTCCCCGGAAGTC -3'
(R):5'- TCAGCAGAAGCCATATCGG -3'