FB2025_01 , released February 20, 2025
Allele: Dmel\Kdm5R873W.Tag:HA
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General Information
Symbol
Dmel\Kdm5R873W.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0366861
Feature type
allele
Associated gene
Dmel\Kdm5
Associated Insertion(s)
Carried in Construct
M{Kdm5-HA.R873W}
Also Known As
kdm5R873W
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.R873W}
Cytology
Description

11kb Kdm5 genomic region containing the R873W point mutation and tagged with 3xTag:HA. The R873W mutation is equivalent to the p.R750W 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
MNV
2L:5,993,730..5,993,732 [-]
Nucleotide change:

CGT5993732TGG

Amino acid change:

R873W | Kdm5-PA; R873W | Kdm5-PB; R873W | Kdm5-PC; R873W | Kdm5-PD; R873W | Kdm5-PE; R873W | Kdm5-PF

Reported amino acid change:

R873W

Comment:

Analogous R750W 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.Arg750Trp
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      KDM5C:p.Arg749Trp
      KDM5C:p.Arg683Trp
      Associated human disease model(s)
      External database links
      ClinVar: 1699148
      Comments concerning this variant
      Phenotypic 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
      Partially rescued by

      FBal0366861:, Kdm5140 is partially rescued by Kdm5R873W.Tag:HA/Kdm5R873W.Tag:HA

      (Belalcazar et al., 2021)
      Partially rescues

      Kdm5R873W.Tag:HA/Kdm5R873W.Tag:HA partially rescues FBal0366861:, Kdm5140

      (Belalcazar et al., 2021)
      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
      Kdm5R873W.Tag:HA
      Kdm5R873W
      (Yheskel et al., 2024)
      kdm5R873W
      (Belalcazar et al., 2021)
      Name Synonyms
      Secondary FlyBase IDs
        References (3)