FB2024_04 , released June 25, 2024
Allele: Dmel\IntS11Lys396Glu.UAS.Tag:HA
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General Information
Symbol
Dmel\IntS11Lys396Glu.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0391546
Feature type
allele
Associated gene
Dmel\IntS11
Associated Insertion(s)
Carried in Construct
PBac{UAS-IntS11.Lys396Glu.HA}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Tepe et al., 2023)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Tepe et al., 2023)
Mutagen
in vitro construct
(Tepe et al., 2023)
Progenitor genotype
Carried in construct
PBac{UAS-IntS11.Lys396Glu.HA}
Cytology
Description

UAS regulatory sequences drive expression of IntS11 cDNA with the pLys396Glu mutation (orthologous to the human disease-associated pLys402Glu mutation), tagged at the C-terminal with 3xTag:HA.

(Tepe et al., 2023)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
IntS11
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:29,746,734..29,746,734 [+]
Nucleotide change:

A29746734G

Amino acid change:

K396E | IntS11-PA

Reported amino acid change:

K396E

Comment:

Analogous mutation in human INTS11 implicated in neurodevelopmental disorder with impaired motor development and brain atrophy, INTS11-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Tepe 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 )
      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.
      (Tepe et al., 2023)
      INTS11:p.Lys402Glu
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant

      Variant protein coordinates based on the 606aa isoform (NP_001243385).

      (FlyBase curators, 2019-)
      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
      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
      IntS11Lys396Glu.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)