F304S | Gcn5-PA
Analogous F307S mutation in human KAT2B implicated in intellectual disability, syndromic, with renal and cardiac dysfunction; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.
UASt regulatory sequences drive expression of Gcn5 that has been mutated to contain the F304S amino acid replacement (this is equivalent to the F307S mutation in the human Hsap\KAT2B ortholog; F307S is a potentially damaging mutation found to be segregating with the disease phenotype in a family with intellectual disability, microcephaly, cardiomyopathy and steroid-resistant nephrotic syndrome). The coding sequence is tagged at the C-terminal end with Tag:FLAG.
Expressing Gcn5F304S.UAS.Tag:FLAG under the control of either Scer\GAL4da.G32 or Scer\GAL4αTub84B.PL partially rescues the full lethality of Gcn5E333st/Df(3L)sex204, giving rise to only a few adults that die a few days after eclosion (Scer\GAL4da.G32), or to nearly half of the expected adult progeny (Scer\GAL4αTub84B.PL).