FB2025_01 , released February 20, 2025
Allele: Dmel\RpS23R67K
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General Information
Symbol
Dmel\RpS23R67K
Species
D. melanogaster
Name
FlyBase ID
FBal0367234
Feature type
allele
Associated gene
Dmel\RpS23
Associated Insertion(s)
TI{TI}RpS23R67K
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
CRISPR/Cas9
(Recasens-Alvarez et al., 2021)
gene targeting by homologous recombination
(Recasens-Alvarez et al., 2021)
Progenitor genotype
Associated Insertion(s)
TI{TI}RpS23R67K
Cytology
Description

The third exon of the endogenous RpS23 locus has been replaced with a version that encodes a R67K amino acid substitution. The same amino acid substitution has been identified in the orthologous human RPS23 gene in a patient with growth retardation and mild autism. In addition, the third exon is flanked by loxP sites (a Disc\RFPmCherry.3xP3 marker is also present within this loxP cassette, downstream of the RpS23 coding sequence). An attP site is also present within the second intron, upstream of the first loxP site of the cassette.

(Recasens-Alvarez et al., 2021)
Allele components
Component
Use(s)
Also carries
attP
loxP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
MNV
2R:14,215,666..14,215,668 [-]
Nucleotide change:

CGC14215668AAG

Amino acid change:

R67K | RpS23-PA; R67K | RpS23-PB

Reported amino acid change:

R67K

Comment:

Analogous R67K mutation in human RPS23 implicated in brachycephaly, trichomegaly, and developmental delay; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change - one of two possible codons chosen arbitrarily.

(Recasens-Alvarez 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 ( 1 )
      Disease
      Interaction
      References
      model of  syndrome
      is ameliorated by Atg1HMS02750
      (Recasens-Alvarez et al., 2021)
      is ameliorated by PPP1R15UAS.cMa
      (Recasens-Alvarez et al., 2021)
      is exacerbated by RhebHMS00923
      (Recasens-Alvarez et al., 2021)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Recasens-Alvarez et al., 2021)
      RPS23:p.Arg67Lys
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 417763
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      RpS23R67K heterozygosity leads to a Minute phenotype: adults exhibit shorter scutellar bristles; larvae are developmentally delayed. Adults also show a small wing. imaginal discs exhibit increased apoptosis and an increased number of autophagosomes,

      RpS23R67K/+ clones in mosaic imaginal discs are out-competed by neighboring wild-type cells, with increased apoptosis. Conditional heterozygosity for RpS26cKO in the imaginal disc anterior region leads to lysosomes accumulation only in the heterozygous region.

      (Recasens-Alvarez et al., 2021)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhanced by
      Suppressed by
      NOT suppressed by
      Other
      Phenotype Manifest In
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      RpS23R67K heterozygotes expressing BacA\p35UAS.cHa under the control of Scer\GAL4rn-GAL4-5 develop tumors in the wing disc.

      (Recasens-Alvarez et al., 2021)
      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 (2)
      Reported As
      Symbol Synonym
      RPS23R67K
      (Recasens-Alvarez et al., 2021)
      RpS23R67K
      Name Synonyms
      Secondary FlyBase IDs
        References (2)