FB2025_01 , released February 20, 2025
Allele: Dmel\mnbD401ter.UAS.Tag:FLAG
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General Information
Symbol
Dmel\mnbD401ter.UAS.Tag:FLAG
Species
D. melanogaster
Name
FlyBase ID
FBal0361188
Feature type
allele
Associated gene
Dmel\mnb
Associated Insertion(s)
Carried in Construct
P{UAS-mnb.D401ter.FLAG}
Key Links
Genomic Maps

Transgenic product class
stop_gained
(Lee et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
stop_gained
(Lee et al., 2020)
Mutagen
in vitro construct
(Lee et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-mnb.D401ter.FLAG}
Cytology
Description

UASt regulatory sequences drive expression of a truncated mnb cDNA; carries a premature stop codon at residue D401. This is equivalent to the E396ter change in the human DYRK1A gene, a variant identified in a patient with DYRK1A haploinsufficiency syndrome. The coding sequence is tagged with Tag:FLAG.

(Lee et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
mnb
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
X:17,869,580..17,869,582 [-]
Nucleotide change:

CAG17869582TGA

Reported nucleotide change:

CAG>TGA

Amino acid change:

D401term | mnb-PE; D401term | mnb-PF; D401term | mnb-PG; D540term | mnb-PH; D540term | mnb-PI

Reported amino acid change:

D401Ter

Comment:

Analogous E396Ter mutation in human DYRK1A implicated in Mental retardation, autosomal dominant 7; mutation carried on in vitro construct.

(Lee et al., 2020)
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 )
      Disease
      Evidence
      References
      model of  syndromic intellectual disability
      CEA
      (Lee et al., 2020)
      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.
      (Lee et al., 2020)
      DYRK1A:p.Glu396Ter
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      DYRK1A:p.Glu387Ter
      DYRK1A:p.Glu358Ter
      Associated human disease model(s)
      External database links
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing mnbD401ter.UAS.Tag:FLAG under the control of Scer\GAL4Mhc.PK leads to fewer boutons in the larval neuromuscular junction.

      (Lee et al., 2020)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      NOT Enhancer of
      NOT Suppressor of
      Phenotype Manifest In
      NOT Enhancer of
      Statement
      Reference

      mnbD401ter.UAS.Tag:FLAG, Scer\GAL4GMR.PFa is a non-enhancer of eye phenotype of Hsap\MAPTUAS.wt, Scer\GAL4GMR.PFa

      (Lee et al., 2020)
      NOT Suppressor of
      Statement
      Reference

      mnbD401ter.UAS.Tag:FLAG, Scer\GAL4GMR.PFa is a non-suppressor of eye phenotype of Hsap\MAPTUAS.wt, Scer\GAL4GMR.PFa

      (Lee et al., 2020)
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference
      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 (1)
      Reported As
      Symbol Synonym
      mnbD401ter.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (2)