FB2024_03 , released June 25, 2024
Allele: Hsap\FUSR521H.UAS.Tag:HA
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General Information
Symbol
Hsap\FUSR521H.UAS.Tag:HA
Species
H. sapiens
Name
FlyBase ID
FBal0261076
Feature type
allele
Associated gene
Hsap\FUS
Associated Insertion(s)
Carried in Construct
P{UAS-hFUS.R521H.HA}
Also Known As
FUS R521H
Key Links
Transgenic product class
missense_variant
(Lanson et al., 2011)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Lanson et al., 2011)
Mutagen
in vitro construct
(Lanson et al., 2011)
Progenitor genotype
Carried in construct
P{UAS-hFUS.R521H.HA}
Cytology
Description

Amino acid replacement: R521H.

(Lanson et al., 2011)

UAS regulatory sequences drive expression of mutated Hsap\FUS coding sequences.

(Lanson et al., 2011)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\FUS
Tagged with
Tag:HA
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 )
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  amyotrophic lateral sclerosis
      is exacerbated by Art1KK101196
      (Scaramuzzino et al., 2013)
      model of  amyotrophic lateral sclerosis type 6
      is exacerbated by mblC.UAS
      (Casci et al., 2019)
      is ameliorated by mblGD13374
      (Casci et al., 2019)
      is ameliorated by mblKK107778
      (Casci et al., 2019)
      is exacerbated by maskHMS01045
      (Zhu et al., 2017)
      is ameliorated by maskUAS.cZa
      (Zhu et al., 2017)
      is ameliorated by TnpoGD33
      (Guo et al., 2018)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Casci et al., 2019, Lanson et al., 2011)
      FUS:p.Arg521His
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      FUS:p.Arg517His
      FUS:p.Arg520His
      Associated human disease model(s)
      External database links
      ClinVar: FUS_16225
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\FUSR521H.UAS.Tag:HA under the control of Scer\GAL4GMR.PF results in eye degeneration: rough eye with loss of pigmentation; retinal degradation, length reduction, and separation from the lamina at the basal membrane.

      (Casci et al., 2019)

      Expressing Hsap\FUSR521H.UAS.Tag:HA under the control of Scer\GAL4GMR.PU causes a severe rough eye phenotype with patchy red pigmentation.

      (Zhu et al., 2017)

      Expression of Scer\GAL4VGlut-OK371>Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 results in an approximately three-fold increase in the number of inter-bouton regions at third instar larval neuromuscular junctions compared with wild-type.

      Scer\GAL4VGlut-OK371>Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1-expressing animals display a reduction in the number of presynaptic active zones compared with wild-type.

      (Machamer et al., 2014)

      Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF causes severe eye degeneration, as compared to controls.

      (Scaramuzzino et al., 2013)

      Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in the developing eye under the control of Scer\GAL4GMR.PF results in a severe neurodegeneration in the eye, characterised by disorganised ommatidia and loss of mechanosensory bristles.

      Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in the nervous system under the control of Scer\GAL4Appl.G1a causes pupal lethality.

      Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in the motor neurons under the control of Scer\GAL4VGlut-OK371 causes pupal lethality.

      Expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 in motor neurons under the control of Scer\GAL4VGlut-OK371 causes a larval-crawling defect. These mutants display normal numbers of synaptic boutons.

      (Lanson et al., 2011)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Enhanced by
      Statement
      Reference

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(1)BSC834/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(2L)BSC768/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(2L)BSC244/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(1)FDD-0024486/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(2R)M41A10/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(3R)ED10845/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by +/Df(2R)Exel6064

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Df(1)BSC772/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PU has visible | adult stage phenotype, enhanceable by maskHMS01045, Scer\GAL4GMR.PU

      (Zhu et al., 2017)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, enhanceable by Art1KK101196, Scer\GAL4GMR.PF

      (Scaramuzzino et al., 2013)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has increased cell death phenotype, enhanceable by Hsap\TARDBPUAS.Tag:MYC, Scer\GAL4GMR.PF

      (Lanson et al., 2011)
      Suppressed by
      Statement
      Reference

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2R)Exel6066/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2R)BSC154/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(3L)Exel8104/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(3R)BSC568/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2L)BSC50/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(3R)Exel6272/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(1)ED6712/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(3R)BSC137/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(1)ED6584/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(3R)Exel6201/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(1)Exel7468/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by +/Df(2L)ED4651

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2L)BSC180/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2L)Exel6012/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2L)BSC209/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2L)BSC688/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by Df(2L)ED7853/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has visible | adult stage phenotype, suppressible by mblKK107778, Scer\GAL4GMR.PF

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PU has visible | adult stage phenotype, suppressible | partially by maskUAS.cZa, Scer\GAL4GMR.PU

      (Zhu et al., 2017)
      NOT suppressed by
      Statement
      Reference

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PU has visible | adult stage phenotype, non-suppressible by Atg18aKG03090/maskUAS.cZa/Atg18a[+], Scer\GAL4GMR.PU

      (Zhu et al., 2017)
      Enhancer of
      Phenotype Manifest In
      Enhanced by
      Suppressed by
      Statement
      Reference

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(1)ED6712/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(1)ED6584/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2L)BSC50/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(3R)Exel6201/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2L)BSC180/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(3R)Exel6272/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(3L)Exel8104/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2L)Exel6012/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2L)BSC688/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(3R)BSC137/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by +/Df(2L)ED4651

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by mblKK107778, Scer\GAL4GMR.PF

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2R)Exel6066/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2R)BSC154/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2L)BSC209/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(3R)BSC568/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(2L)ED7853/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PF has eye phenotype, suppressible by Df(1)Exel7468/+

      (Casci et al., 2019)

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PU has eye phenotype, suppressible | partially by maskUAS.cZa, Scer\GAL4GMR.PU

      (Zhu et al., 2017)
      NOT suppressed by
      Statement
      Reference

      Hsap\FUSR521H.UAS.Tag:HA, Scer\GAL4GMR.PU has eye phenotype, non-suppressible by Atg18aKG03090/maskUAS.cZa/Atg18a[+], Scer\GAL4GMR.PU

      (Zhu et al., 2017)
      Enhancer of
      Additional Comments
      Genetic Interactions
      Statement
      Reference
      Xenogenetic Interactions
      Statement
      Reference

      Co-expression of Art1KK101196 enhances the eye degeneration phenotype seen in flies expressing Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 under the control of Scer\GAL4GMR.PF.

      (Scaramuzzino et al., 2013)

      Co-expression of Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1 and Hsap\TARDBPScer\UAS.cRa in the developing eye under the control of Scer\GAL4GMR.PF leads to severe eye degeneration.

      (Lanson et al., 2011)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\FUSR521H.Scer\UAS.T:Ivir\HA1
      Hsap\FUSR521H.UAS.Tag:HA
      Name Synonyms
      Secondary FlyBase IDs
        References (7)