FB2025_01 , released February 20, 2025
Allele: Dmel\necSF.UAS
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General Information
Symbol
Dmel\necSF.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0146985
Feature type
allele
Associated gene
Dmel\nec
Associated Insertion(s)
Carried in Construct
P{UAS-nec.SF}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Green et al., 2003)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Green et al., 2003)
Mutagen
in vitro construct
(Green et al., 2003)
Progenitor genotype
Carried in construct
P{UAS-nec.SF}
Cytology
Description

Expression of mutated nec is driven by UAS sequences (carries the amino acid replacement S53F). The lesion mimics that found in the Siiyama variant of human antitrypsin.

(Green et al., 2003)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
nec
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:7,157,692..7,157,693 [-]
Comment:

Mutation in analogous codon in human SERPINA1 implicated in alpha-1-antitrypsin deficiency; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Green et al., 2003)
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  alpha 1-antitrypsin deficiency
      CEA
      (Green et al., 2003)
      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.
      (Green et al., 2003)
      SERPINA1:p.Ser77Phe
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      SERPINA1:p.Ser53Phe
      Associated human disease model(s)
      External database links
      ClinVar: SERPINA1_17992
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      The expression of necSF.Scer\UAS under the control of Scer\GAL4Act5C.PI or Scer\GAL4yolk leads to a decreased adult lifespan at 29[o]C, but not at 18[o]C or 25[o]C.

      (Green et al., 2003)
      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 (3)
      Reported As
      Symbol Synonym
      necS>F.UAS
      (Green et al., 2003)
      necSF.Scer\UAS
      necSF.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)