FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\RNaseZHCM2.Tag:V5
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General Information
Symbol
Dmel\RNaseZHCM2.Tag:V5
Species
D. melanogaster
Name
FlyBase ID
FBal0369461
Feature type
allele
Associated gene
Dmel\RNaseZ
Associated Insertion(s)
Carried in Construct
P{RNaseZ.HCM2.V5}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Migunova et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Migunova et al., 2021)
Mutagen
in vitro construct
(Migunova et al., 2021)
Progenitor genotype
Carried in construct
P{RNaseZ.HCM2.V5}
Cytology
Description

Genomic fragment that encompasses RNaseZ (including its endogenous regulatory sequences). A T494I amino acid substitution has been introduced into the coding sequence. This change is equivalent to a T520I change in the orthologous human ELAC2 gene, a variant associated with cardiomyopathy. The coding sequence is tagged at C-terminal end with Tag:V5.

(Migunova et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
RNaseZ
Encoded product / tool
RNaseZ
Tagged with
Tag:V5
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:10,308,125..10,308,125 [-]
Nucleotide change:

C10308125T

Reported nucleotide change:

C1539T

Amino acid change:

T494I | RNaseZ-PB

Reported amino acid change:

T494I

Comment:

Mutation in analagous codon in human ELAC2 implicated in cardiomyopathy associated with combined oxidative phosphorylation deficiency 17; mutation carried on in vitro construct; specific disease association inferred by FlyBase curator based on reported amino acid change.

(Migunova 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.
      (Migunova et al., 2021)
      ELAC2:p.Thr520Ile
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      ELAC2:p.Thr519Ile
      ELAC2:p.Thr480Ile
      Associated human disease model(s)
      External database links
      ClinVar: 66035
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      RNaseZED24/RNaseZED24 individuals bearing 1 or two copies of RNaseZHCM1.Tag:V5 show a decreased climbing ability, as compared to controls; homozygotes bearing 1 copy of RNaseZHCM1.Tag:V5 show a thickened heart wall at the larval and adult stages; homozygotes bearing 1 copy of RNaseZHCM2.Tag:V5 show increased end-systolic area in larval and adult hearts, and increased end-diastolic area in larval hearts; homozygotes bearing 1 copy of RNaseZHCM2.Tag:V5 show decreased fractional shortening in the larval and adult heart. Muscle cells show increased number of nuclei with increased ploidy.

      (Migunova et al., 2021)
      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
      Images (0)
      Mutant
      Wild-type
      Stocks (0)
      Notes on Origin
      Discoverer
      External Crossreferences and Linkouts ( 0 )
      Synonyms and Secondary IDs (1)
      Reported As
      Symbol Synonym
      RNaseZHCM2.Tag:V5
      Name Synonyms
      Secondary FlyBase IDs
        References (2)