FB2025_01 , released February 20, 2025
Allele: Dmel\Nup1886A
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General Information
Symbol
Dmel\Nup1886A
Species
D. melanogaster
Name
FlyBase ID
FBal0360413
Feature type
allele
Associated gene
Dmel\Nup188
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Muir et al., 2020)
Progenitor genotype
Cytology
Description

1bp insertion (A) within Nup188; predicted to result in a frameshift and truncation of the protein.

(Muir et al., 2020)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
insertion
2R:12,685,968..12,685,969 [-]
Inserted_sequence:

A

Comment:

A 1bp insertion (A) between between codons 14 and 15 of Nup188 leads to a frameshift and early translation termination.

(Muir et al., 2020)
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  Sandestig-Stefanova syndrome
      CEC
      (Muir 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)
       
      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
      Nup1886A
      (Muir et al., 2020)
      Name Synonyms
      Secondary FlyBase IDs
        References (1)