FlyBase Allele Report: Hsap\SETX[L389S.UAS.Tag:FLAG]

General Information

Symbol

Hsap\SETX^{L389S.UAS.Tag:FLAG}

Species

H. sapiens

Name

FlyBase ID

FBal0396462

Feature type

allele

Associated gene

Hsap\SETX

Associated Insertion(s)

Carried in Construct

P{UAS-hSETX.L389S.FLAG}

Key Links

Transgenic product class

missense_variant

(Bennett et al., 2023)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Bennett et al., 2023)

Mutagen

in vitro construct

(Bennett et al., 2023)

Progenitor genotype

Carried in construct

P{UAS-hSETX.L389S.FLAG}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\SETX carrying a L389S amino acid replacement (a pathogenic variant that is the moe common cause of autosomal dominant ALS4). The coding sequence is tagged with Tag:FLAG.

(Bennett et al., 2023)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\SETX

Tagged with

Tag:FLAG

epitope tag

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

DOES NOT model amyotrophic lateral sclerosis type 4

CEA

(Bennett et al., 2023)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis

modeled by Zzzz\GGGGCC^58.UAS.EGFP

(Bennett et al., 2023)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Bennett et al., 2023)

Phenotypic Data

Phenotypic Class

lethal - all die before end of larval stage, with Scer\GAL4^tsh.PU

(Bennett et al., 2023)

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\SETX^{L389S.UAS.Tag:FLAG}, Scer\GAL4^GMR.PU is a suppressor of visible | adult stage phenotype of Scer\GAL4^GMR.PU, Zzzz\GGGGCC^58.UAS.EGFP

(Bennett et al., 2023)

Hsap\SETX^{L389S.UAS.Tag:FLAG}, Scer\GAL4^RapGAP1-OK6 is a suppressor | partially of abnormal neuroanatomy | larval stage phenotype of Scer\GAL4^RapGAP1-OK6, Zzzz\poly-GR^50.UAS.EGFP

(Bennett et al., 2023)

NOT Suppressor of

Statement

Reference

Hsap\SETX^{L389S.UAS.Tag:FLAG}, Scer\GAL4^nSyb.PS is a non-suppressor of decreased rate of adult locomotory behavior phenotype of Scer\GAL4^nSyb.PS, Zzzz\poly-GR^{1136.UAS.EGFP}

(Bennett et al., 2023)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\SETX^{L389S.UAS.Tag:FLAG}, Scer\GAL4^GMR.PU is a suppressor of eye phenotype of Scer\GAL4^GMR.PU, Zzzz\GGGGCC^58.UAS.EGFP

(Bennett et al., 2023)

Hsap\SETX^{L389S.UAS.Tag:FLAG}, Scer\GAL4^RapGAP1-OK6 is a suppressor | partially of NMJ bouton | larval stage | decreased number phenotype of Scer\GAL4^RapGAP1-OK6, Zzzz\poly-GR^50.UAS.EGFP

(Bennett et al., 2023)

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\SETX^{L389S.UAS.Tag:FLAG}

Name Synonyms

Secondary FlyBase IDs

References (1)

Report Sections

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