FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Kdm5L854F.Tag:HA
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General Information
Symbol
Dmel\Kdm5L854F.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0366860
Feature type
allele
Associated gene
Dmel\Kdm5
Associated Insertion(s)
Carried in Construct
M{Kdm5-HA.L854F}
Also Known As
kdm5L854F
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Belalcazar et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Belalcazar et al., 2021)
Mutagen
in vitro construct
(Belalcazar et al., 2021)
Progenitor genotype
Carried in construct
M{Kdm5-HA.L854F}
Cytology
Description

11kb Kdm5 genomic region containing the L854F point mutation and tagged with 3xTag:HA. The L854F mutation is equivalent to the p.L731F mutation in the C5HC2 domain that is associated with Intellectual Disability in humans.

(Belalcazar et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
Kdm5
Encoded product / tool
Kdm5
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2L:5,993,787..5,993,787 [-]
Nucleotide change:

G5993787C

Amino acid change:

L854F | Kdm5-PA; L854F | Kdm5-PB; L854F | Kdm5-PC; L854F | Kdm5-PD; L854F | Kdm5-PE; L854F | Kdm5-PF

Reported amino acid change:

L854F

Comment:

Analogous L731F mutation in human KDM5C implicated in intellectual disability; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Belalcazar et al., 2021)
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.
      (Belalcazar et al., 2021)
      KDM5C:p.Leu731Phe
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      KDM5C:p.Leu730Phe
      KDM5C:p.Leu664Phe
      Associated human disease model(s)
      External database links
      ClinVar: 9772
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      In Kdm5140 homozygous third instar larvae bearing two copies of Kdm5L854F.Tag:HA, muscles exhibit altered NMJ morphology, with decreased number and increased size of type Ib synaptic boutons, which present unbundled microtubules. These larvae show decreased crawling ability (decreased crawling length, decreased average and maximum crawling speed, and decreased speed normalized to body length).

      (Belalcazar et al., 2021)
      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 (3)
      Reported As
      Symbol Synonym
      Kdm5L854F.Tag:HA
      Kdm5L854F
      (Yheskel et al., 2025, Yheskel et al., 2024)
      kdm5L854F
      (Belalcazar et al., 2021)
      Name Synonyms
      Secondary FlyBase IDs
        References (4)