FB2026_02 , released June 18, 2026
Allele: Dmel\SceR65H.ScerFRT.gen
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General Information
Symbol
Dmel\SceR65H.Scer\FRT.gen
Species
D. melanogaster
Name
FlyBase ID
FBal0369071
Feature type
allele
Associated gene
Dmel\Sce
Associated Insertion(s)
Carried in Construct
PBac{(FRT.w+.UAS-GFP)Sce.R65H}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Luo et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Luo et al., 2021)
Mutagen
in vitro construct
(Luo et al., 2021)
Progenitor genotype
Carried in construct
PBac{(FRT.w+.UAS-GFP)Sce.R65H}
Cytology
Description

A Sce genomic fragment comprising chr3R sequences 27680208-27683747 (Release 6), contained within a removable FRT cassette that also contains a " UAS:GFP " and w marker. A R65H mutation has been introduced, which is analogous to the p.R70H variant in human RNF2 associated with a neurodevelopmental disorder.

(Luo et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
Sce
Encoded product / tool
Sce
Also carries
FRT
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:27,681,722..27,681,722 [-]
Nucleotide change:

G27681722A

Amino acid change:

R65H | Sce-PA

Reported amino acid change:

R65H

Comment:

Analogous R70H mutation in human RNF2 is associated with a neurodevelopmental disorder; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Luo et al., 2021)
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  Luo-Schoch-Yamamoto syndrome
      CEC
      (Luo et al., 2021)
      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.
      (Luo et al., 2021)
      RNF2:p.Arg70His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 988094
      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
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      SceR65H.Scer\FRT.gen
      Name Synonyms
      Secondary FlyBase IDs
        References (2)