FB2025_01 , released February 20, 2025
Allele: Dmel\SplyR210Q.Tag:HA
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General Information
Symbol
Dmel\SplyR210Q.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0326636
Feature type
allele
Associated gene
Dmel\Sply
Associated Insertion(s)
Carried in Construct
PBac{Sply-HA.R210Q}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Lovric et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Lovric et al., 2017)
Mutagen
in vitro construct
(Lovric et al., 2017)
Progenitor genotype
Carried in construct
PBac{Sply-HA.R210Q}
Cytology
Description

4kb genomic fragment that contains the Sply gene, including 491bp of upstream regulatory sequences and the 3'UTR. The coding region has been mutated to contain the R210Q amino acid replacement, which is equivalent to the disease-associated R222Q mutation in the orthologous human SGPL1 gene. A Tag:HA tag has been inserted at the C-terminal end of the Sply open reading frame.

(Lovric et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
Sply
Encoded product / tool
Sply
Tagged with
Tag:HA
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:17,089,901..17,089,902 [-]
Nucleotide change:

AG17089902CA

Reported nucleotide change:

AGG>CAG

Amino acid change:

R210Q | Sply-PA; R210Q | Sply-PB

Reported amino acid change:

R210Q

Comment:

Analogous R222Q mutation in human SGPL1 implicated in nephrotic syndrome, type 14; mutation carried on in vitro construct.

(Lovric et al., 2017)
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 ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 1 )
       

      Either the SplyS335I.T:Ivir\HA1 or the SplyR210Q.T:Ivir\HA1 allele of Sply bearing mutations discovered to be disease-associated in its human ortholog SPGL1 fail to ameliorate the phenotype of Sply05091 mutants, the Drosophila model of nephrotic syndrome. The mutant phenotype can be rescued by combination with SplyE119G.T:Ivir\HA1.

      (Lovric et al., 2017)
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Lovric et al., 2017)
      SGPL1:p.Arg222Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: SGPL1_430861
      Comments concerning this variant
      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
      Fails to rescue

      SplyR210Q.Tag:HA fails to rescue Df(2R)BSC433/Sply05091

      (Lovric et al., 2017)
      Comments

      The reduced density of foot process in garland cell nephrocytes observed in Sply05091/Df(2R)BSC433 third instar larvae cannot be rescued by combination with SplyR210Q.T:Ivir\HA1.

      (Lovric et al., 2017)
      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
      SplyR210Q.T:Ivir\HA1
      SplyR210Q.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)