|Institutional Source||Beutler Lab|
|Gene Name||trans-acting transcription factor 4|
|Synonyms||5730497N03Rik, HF1-b, HF-1b|
|Is this an essential gene?||Possibly non essential (E-score: 0.415)|
|Stock #||R7195 (G1)|
|Chromosomal Location||118234933-118301440 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 118300072 bp|
|Amino Acid Change||Glutamine to Lysine at position 80 (Q80K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000152603 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026367] [ENSMUST00000221844] [ENSMUST00000222314]|
AA Change: Q80K
|Predicted Effect||probably benign
|Predicted Effect||possibly damaging
AA Change: Q80K
PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that can bind to the GC promoter region of a variety of genes, including those of the photoreceptor signal transduction system. The encoded protein binds to the same sites in promoter CpG islands as does the transcription factor SP1, although its expression is much more restricted compared to that of SP1. This gene may be involved in bipolar disorder and schizophrenia. [provided by RefSeq, May 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit cardiac arrhythmias and most die shortly after birth. Surviving males complete spermatogenesis but do not copulate, while females show delayed sexual maturation and reduction in spleen, thymus, and uterus. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Sp4||
(F):5'- ACTGTACACTACCGCTTGGG -3'
(R):5'- GACTGCTGTCTTCCACTAAATCCG -3'
(F):5'- ATTGATTAGGGGTGGAAGGATTACC -3'
(R):5'- GTCTTCCACTAAATCCGCCCAC -3'