FB2024_03 , released June 25, 2024
Allele: Hsap\TP53R273H
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General Information
Symbol
Hsap\TP53R273H
Species
H. sapiens
Name
FlyBase ID
FBal0342179
Feature type
allele
Associated gene
Hsap\TP53
Associated Insertion(s)
Carried in Construct
PBac{hTP53.R273H}
Key Links
Transgenic product class
missense_variant
(D'Brot et al., 2017)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(D'Brot et al., 2017)
Mutagen
in vitro construct
(D'Brot et al., 2017)
Progenitor genotype
Carried in construct
PBac{hTP53.R273H}
Cytology
Description

A BAC (CH322-115D03) containing a 20kb genomic fragment of the p53 locus in which exons 1-8 of p53 (coding for the predominant gene product) are replaced with a Hsap\TP53 cDNA (NM_000546.5) bearing a R273H mutation, which is a common hot-spot mutation in human cancer.

(D'Brot et al., 2017)
Allele components
Component
Use(s)
Regulatory region(s)
p53
Encoded product / tool
Hsap\TP53
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 ( 1 )
      Disease
      Evidence
      References
      model of  cancer
      CEA with p53-ns, p53TM3
      (D'Brot et al., 2017)
      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.
      (D'Brot et al., 2017)
      TP53:p.Arg273His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      TP53:p.Arg234His
      TP53:p.Arg114His
      TP53:p.Arg141His
      Associated human disease model(s)
      External database links
      ClinVar: TP53_12366
      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
      NOT Suppressor of
      Statement
      Reference

      Hsap\TP53R273H is a non-suppressor of decreased cell death | embryonic stage | conditional phenotype of p53-ns

      (D'Brot et al., 2017)
      Phenotype Manifest In
      NOT Suppressor of
      Statement
      Reference

      Hsap\TP53R273H is a non-suppressor of wing disc | embryonic stage | conditional phenotype of p53-ns

      (D'Brot et al., 2017)
      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\TP53R273H
      Name Synonyms
      Secondary FlyBase IDs
        References (2)