FB2025_01 , released February 20, 2025
Allele: Dmel\Cdc42R186C.UASp
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General Information
Symbol
Dmel\Cdc42R186C.UASp
Species
D. melanogaster
Name
FlyBase ID
FBal0362022
Feature type
allele
Associated gene
Dmel\Cdc42
Associated Insertion(s)
Carried in Construct
P{UASp-Cdc42.R186C}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Verboon et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Verboon et al., 2020)
Mutagen
in vitro construct
(Verboon et al., 2020)
Progenitor genotype
Carried in construct
P{UASp-Cdc42.R186C}
Cytology
Description

UASp regulatory sequences drive expression of Cdc42 that carries a R186C amino acid replacement. This change is in a highly conserved residue and is equivalent to an identical (R186C) change in the orthologous human CDC42 gene, a variant identified in patients with infantile myelofibrosis.

(Verboon et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASp
Encoded product / tool
Cdc42
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
X:19,698,574..19,698,576 [+]
Nucleotide change:

AGG19698574TGC

Amino acid change:

R186C | Cdc42-PA; R186C | Cdc42-PC; R186C | Cdc42-PD

Reported amino acid change:

R186C

Comment:

Analogous R186C mutation in human CDC42 implicated in immune and hematological syndromes, CDC42-related; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change; one of two possible codon changes selected for display.

(Verboon 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  syndrome
      CEA
      (Verboon et al., 2020)
      model of  myelofibrosis
      CEA
      (Verboon 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)
       
      This allele represents a human variant implicated in disease.
      (Verboon et al., 2020)
      CDC42:p.Arg186Cys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 1916169
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Migrating embryo hemocytes expressing Cdc42R186C.UASp under the control of Scer\GAL4Pxn.PS have reduced protrusions; there is also greatly diminished hemocyte migration (speed).

      (Verboon et al., 2020)
      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 (3)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      Cdc42R186C.UASp
      Name Synonyms
      Secondary FlyBase IDs
        References (2)