FB2024_03 , released June 25, 2024
Allele: Dmel\SERCAR751Q.UAS.tdTomato
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General Information
Symbol
Dmel\SERCAR751Q.UAS.tdTomato
Species
D. melanogaster
Name
FlyBase ID
FBal0294729
Feature type
allele
Associated gene
Dmel\SERCA
Associated Insertion(s)
Carried in Construct
P{UAS-SERCA.R751Q.tdTomato}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Kaneko et al., 2014)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Kaneko et al., 2014)
Mutagen
in vitro construct
(Kaneko et al., 2014)
Progenitor genotype
Carried in construct
P{UAS-SERCA.R751Q.tdTomato}
Cytology
Description

UASt regulatory sequences drive expression of a mutant form of SERCA that carries the amino acid replacement R751Q. This change is equivalent to a R750Q change in the human SERCA2 gene, a pathogenic variant which causes Darier's disease. The protein is tagged with tdTomato.

(Kaneko et al., 2014)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
SERCA
Tagged with
tdTomato
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:23,930,296..23,930,297 [-]
Nucleotide change:

GC23930297AG

Amino acid change:

R751Q | SERCA-PA; R751Q | SERCA-PB; R751Q | SERCA-PC; R751Q | SERCA-PD; R751Q | SERCA-PE; R751Q | SERCA-PF; R751Q | SERCA-PG; R751Q | SERCA-PH; R751Q | SERCA-PI

Reported amino acid change:

R751Q

Comment:

Analogous R750Q mutation in human ATP2A2 implicated in Darier-White disease; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Kaneko et al., 2014)
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 ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Kaneko et al., 2014)
      ATP2A2:p.Arg750Gln
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expression of Ca-P60AR751Q.Scer\UAS.T:Disc\RFP-tdTomato under the control of Scer\GAL4Mef2.PU results in a temperature-sensitive uncoordination phenotype.

      (Kaneko et al., 2014)

      Expression of Ca-P60AR751Q.Scer\UAS under the control of Scer\GAL4Mef2.PU results in a temperature-sensitive uncoordination phenotype.

      (Kaneko et al., 2014)
      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 (1)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (4)
      Reported As
      Symbol Synonym
      Ca-P60AR751Q.Scer\UAS.T:Disc\RFP-tdTomato
      Ca-P60AR751Q.Scer\UAS
      SERCAR751Q.Scer\UAS.T:Disc\RFP-tdTomato
      SERCAR751Q.UAS.tdTomato
      Name Synonyms
      Secondary FlyBase IDs
        References (4)