FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Nup107D364N.mRFP1
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General Information
Symbol
Dmel\Nup107D364N.mRFP1
Species
D. melanogaster
Name
FlyBase ID
FBal0319549
Feature type
allele
Associated gene
Dmel\Nup107
Associated Insertion(s)
Carried in Construct
P{mRFP-Nup107.D364N}
Also Known As
RFP-Nup107D364N
Key Links
Transgenic product class
missense_variant
(Weinberg-Shukron et al., 2015)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Weinberg-Shukron et al., 2015)
Mutagen
in vitro construct
(Weinberg-Shukron et al., 2015)
Progenitor genotype
Carried in construct
P{mRFP-Nup107.D364N}
Cytology
Description

Genomic fragment containing Nup107, including 1.5kb upstream and 0.8kb downstream sequence. The open reading frame has been mutated to carry the D364N amino acid replacement (this is equivalent to the D447N mutation in the human NUP107 ortholog, which is associated with XX-gonadal dysgenesis). The protein is tagged with mRFP1.

(Weinberg-Shukron et al., 2015)
Allele components
Component
Use(s)
Regulatory region(s)
Nup107
Encoded product / tool
Nup107
Tagged with
mRFP1
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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  46 XX gonadal dysgenesis
      CEA
      (Weinberg-Shukron et al., 2015)
      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.
      (Weinberg-Shukron et al., 2015)
      NUP107:p.Asp447Asn
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      NUP107:p.Asp418Asn
      Associated human disease model(s)
      External database links
      ClinVar: NUP107_559482
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Nup107D364N.T:Disc\RFP-mRFP in a Nup107E8/Nup107E8 mutant background results in no apparent morphological defects in adult flies, but females have significantly reduced fertility, laying fewer eggs, as compared with controls. Eggs laid by these females have a lower hatch rate, and a majority of eggs display chorion and dorsal appendage defects, including missing, misshapen, or aberrantly located dorsal appendages, and abnormally translucent and fragile chorions. Ovaries of females expressing Nup107D364N.T:Disc\RFP-mRFP in a Nup107E8/Nup107E8 mutant background display a significant increase in morphological defects, including ovariole disintegration, condensation of DNA in the nurse cells and extensive apoptosis, as compared with controls

      (Weinberg-Shukron et al., 2015)
      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

      Nup107D364N.mRFP1 partially rescues Nup107E8

      (Weinberg-Shukron et al., 2015)
      Comments
      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
      Nup107D364N.T:Disc\RFP-mRFP
      Nup107D364N.mRFP1
      Name Synonyms
      Secondary FlyBase IDs
        References (3)