FB2025_01 , released February 20, 2025
Allele: Dmel\EMC1P506R.UAS.Tag:HA
Open Close
General Information
Symbol
Dmel\EMC1P506R.UAS.Tag:HA
Species
D. melanogaster
Name
FlyBase ID
FBal0385351
Feature type
allele
Associated gene
Dmel\EMC1
Associated Insertion(s)
Carried in Construct
P{UAS-EMC1.P506R.HA}
Key Links
Genomic Maps

Transgenic product class
missense_variant
(Chung et al., 2022)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Chung et al., 2022)
Mutagen
in vitro construct
(Chung et al., 2022)
Progenitor genotype
Carried in construct
P{UAS-EMC1.P506R.HA}
Cytology
Description

UASt regulatory sequences drive expression of EMC1, mutated to carry a P506R amino acid replacement and tagged at the C-terminal end with three copies of Tag:HA. The P506R change is equivalent to a P582R change in the orthologous human EMC1 gene, a variant identified in patients with severe developmental delay. The open reading frame is flanked by a pair of incompatible FRT sites (FRT5 and FRT2), which allows for future in vivo exchange of either the promoter or tag sequence.

(Chung et al., 2022)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
EMC1
Tagged with
Tag:HA
Also carries
FRT2
FRT5
loxP
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
3R:7,905,088..7,905,088 [-]
Nucleotide change:

C7905088G

Reported nucleotide change:

C?G

Amino acid change:

P506R | EMC1-PA; P506R | EMC1-PB; P499R | EMC1-PC; P499R | EMC1-PD

Reported amino acid change:

P506R

Comment:

Analogous mutation in human EMC1 implicated in cerebellar atrophy, visual impairment, and psychomotor retardation (FBhh0001476); mutation carried on in vitro construct.

(Chung et al., 2022)
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.
      (Chung et al., 2022)
      EMC1:p.Pro582Arg
      (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
      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

      EMC1P506R.UAS.Tag:HA/Scer\GAL4Act5C.PI fails to rescue EMC1655G

      (Chung et al., 2022)
      Comments
      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
      EMC1P506R.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (2)