FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\bafgfpA13T
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General Information
Symbol
Dmel\bafgfpA13T
Species
D. melanogaster
Name
FlyBase ID
FBal0388536
Feature type
allele
Associated gene
Dmel\baf
Associated Insertion(s)
TI{TI}bafgfpA13T
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Duan et al., 2023)
gene targeting by homologous recombination
(Duan et al., 2023)
Progenitor genotype
Associated Insertion(s)
TI{TI}bafgfpA13T
Cytology
Description

Amino acid replacement A13T. This change is equivalent to a A12T change in the orthologous human BANF1 gene, a pathogenic variant associated with Nestor-Guillermo Progeria Syndrome (NGPS). A sfGFP tag has also been inserted at the N-terminal end of the coding sequence.

(Duan et al., 2023)
Allele components
Component
Use(s)
Tagged with
sfGFP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:8,029,644..8,029,644 [+]
Nucleotide change:

G8029644A

Amino acid change:

A13T | baf-PA; A13T | baf-PB

Reported amino acid change:

A13T

Comment:

Analogous mutation in human BANF1 implicated in Nestor-Guillermo progeria syndrome; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Duan et al., 2023)
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  Nestor-Guillermo progeria syndrome
      CEA
      (Duan et al., 2023)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  Nestor-Guillermo progeria syndrome
      is ameliorated by lok30
      (Duan et al., 2023)
      is ameliorated by lokKD
      (Duan et al., 2023)
      is ameliorated by lokp6
      (Duan et al., 2023)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Duan et al., 2023)
      BANF1:p.Ala12Thr
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 30390
      Comments concerning this variant
      Phenotypic Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Phenotype Manifest In
      Suppressed by
      Statement
      Reference

      bafgfpA13T has germarium phenotype, suppressible by lokKD/lokKD

      (Duan et al., 2023)

      bafgfpA13T has wing disc | larval stage phenotype, suppressible by lokKD/lokKD

      (Duan et al., 2023)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      Complementation and Rescue Data
      Comments
      Images (0)
      Mutant
      Wild-type
      Stocks (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      bafgfpA13T
      (Duan et al., 2023)
      Name Synonyms
      Secondary FlyBase IDs
        References (2)