FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Orc6Y225S.Orc6.UAS.GFP
Open Close
General Information
Symbol
Dmel\Orc6Y225S.Orc6.UAS.GFP
Species
D. melanogaster
Name
FlyBase ID
FBal0319523
Feature type
allele
Associated gene
Dmel\Orc6
Associated Insertion(s)
Carried in Construct
P{Orc6-UAS-Orc6.N-GFP.Y225S}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Balasov et al., 2015)
Mutagen
    Nature of the Allele
    Transgenic product class
    missense_variant
    (Balasov et al., 2015)
    Mutagen
    Progenitor genotype
    Carried in construct
    P{Orc6-UAS-Orc6.N-GFP.Y225S}
    Cytology
    Description

    The native Orc6 promoter and UAS regulatory sequences are fused upstream of a mutated form of Orc6 (contains the amino acid replacement Y225S), which is tagged at the N-terminal end with GFP.

    (Balasov et al., 2015)
    Allele components
    Component
    Use(s)
    Regulatory region(s)
    Orc6
    UASt
    Encoded product / tool
    Orc6
    Tagged with
    GFP
    Mutations Mapped to the Genome
    Curation Data
    Type
    Location
    Additional Notes
    References
    point_mutation
    2R:9,845,665..9,845,665 [-]
    Nucleotide change:

    A9845665C

    Amino acid change:

    Y225S | Orc6-PA

    Reported amino acid change:

    Y225S

    Comment:

    Analogous Y232S mutation in human ORC6 implicated in Meier-Gorlin syndrome 3; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

    (Balasov et al., 2015)
    Variant Molecular Consequences
    Associated Sequence Data
    DDBJ / EMBL / GenBank
    DNA sequence
    Protein sequence
     
    UniProtKB/Swiss-Prot
      UniProtKB/TrEMBL
        Expression Data
        Reporter Expression
        Additional Information
        Statement
        Reference
         
        Marker for
        Reflects expression of
        Reporter construct used in assay
        Human Disease Associations
        Disease Ontology (DO) Annotations
        Models Based on Experimental Evidence ( 1 )
        Disease
        Evidence
        References
        model of  Meier-Gorlin syndrome 3
        CEA
        (Balasov et al., 2020)
        Modifiers Based on Experimental Evidence ( 0 )
        Disease
        Interaction
        References
        Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
         
        Disease-implicated variant(s)
         
        This allele represents a human variant implicated in disease.
        (Balasov et al., 2015)
        ORC6:p.Tyr232Ser
        (FlyBase curators, 2019-)
        Variants Synonym(s)
        Associated human disease model(s)
        External database links
        ClinVar: ORC6_30656
        Comments concerning this variant
        Phenotypic Data
        Phenotypic Class
        Phenotype Manifest In
        Detailed Description
        Statement
        Reference
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Phenotype Manifest In
        Additional Comments
        Genetic Interactions
        Statement
        Reference
        Xenogenetic Interactions
        Statement
        Reference
        Complementation and Rescue Data
        Partially rescues

        Orc6Y225S.Orc6.UAS.GFP/Scer\GAL4Tub.PU partially rescues Orc635

        (Balasov et al., 2015)
        Fails to rescue

        Orc6Y225S.Orc6.UAS.GFP fails to rescue Orc635

        (Balasov et al., 2015)
        Comments

        Expression of Orc6Y225S.Orc6.Scer\UAS.T:Avic\GFP under its native promoter fails to rescue the third instar lethality in Orc635 mutant larvae but expression under the control of Scer\GAL4tub.PU can partially restore the viability of the Orc635 mutants. The rescued adults, however, display several phenotypic defects compared to controls including upheld wing posture, missing posterior scutellar bristles, rough spots in the eye and irregular hair pattern on the abdomen.

        Larvae expressing Orc6Y225S.Orc6.Scer\UAS.T:Avic\GFP under the control of its native promoter in Orc635 mutant background display decreased levels of DNA replication in both neural ganglia and testes compared to controls.

        Expression of Orc6Y225S.Orc6.Scer\UAS.T:Avic\GFP from its native promoter does not rescue the aberrant karyotype characteristic for Orc635 and the chromosomes in larval brain cells display a number of defects including loss of arms, fragmentation, polyploidy, aberrant condensation or misalignment during the cell cycle. This abnormal karyotype is however rescued when Orc6Y225S.Orc6.Scer\UAS.T:Avic\GFP is expressed under the control of the Scer\GAL4tub.PU driver.

        (Balasov et al., 2015)
        Images (0)
        Mutant
        Wild-type
        Stocks (0)
        Notes on Origin
        Discoverer
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (2)
        Reported As
        Symbol Synonym
        Orc6Y225S.Orc6.Scer\UAS.T:Avic\GFP
        Orc6Y225S.Orc6.UAS.GFP
        Name Synonyms
        Secondary FlyBase IDs
          References (3)