FB2025_01 , released February 20, 2025
Allele: Hsap\MATR3S85C.ΔRRM2.UAS.Tag:FLAG
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General Information
Symbol
Hsap\MATR3S85C.ΔRRM2.UAS.Tag:FLAG
Species
H. sapiens
Name
FlyBase ID
FBal0363112
Feature type
allele
Associated gene
Hsap\MATR3
Associated Insertion(s)
Carried in Construct
P{UAS-hMATR3.S85C.ΔRRM2.FLAG}
Key Links
Transgenic product class
inframe_deletion
(Ramesh et al., 2020)
missense_variant
(Ramesh et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Ramesh et al., 2020)
missense_variant
(Ramesh et al., 2020)
Mutagen
in vitro construct
(Ramesh et al., 2020)
Progenitor genotype
Carried in construct
P{UAS-hMATR3.S85C.ΔRRM2.FLAG}
Cytology
Description

UASt regulatory sequences drive expression of Hsap\MATR3 in which the RRM2 domain has been deleted and which also carries the disease-associated S85C amino acid substitution. The coding sequence is tagged with Tag:FLAG.

(Ramesh et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\MATR3
Tagged with
Tag:FLAG
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
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)
       
      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
      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
      Hsap\MATR3S85C.ΔRRM2.UAS.Tag:FLAG
      Name Synonyms
      Secondary FlyBase IDs
        References (1)