FlyBase Allele Report: Hsap\GARS1[H418R.UAS]

General Information

Symbol

Hsap\GARS1^H418R.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0407900

Feature type

allele

Associated gene

Hsap\GARS1

Associated Insertion(s)

Carried in Construct

PBac{UAS-hGARS1.H418R}

Key Links

Transgenic product class

missense_variant

(Mora et al., 2025)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Mora et al., 2025)

Mutagen

in vitro construct

(Mora et al., 2025)

Progenitor genotype

Carried in construct

PBac{UAS-hGARS1.H418R}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\GARS1 cDNA carrying the human disease-relevant H418R mutation.

(Mora et al., 2025)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\GARS1

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)

This allele represents a human variant implicated in disease.

(Mora et al., 2025)

GARS1:p.His472Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

GARS1:p.His418Arg

Associated human disease model(s)

External database links

ClinVar: 410314

Comments concerning this variant

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | larval stage, with Scer\GAL4^ppk.PG

(Mora et al., 2025)

decreased rate of adult locomotory behavior, with Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

decreased size | larval stage, with Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

female sterile, with Scer\GAL4^Act5C.PI

(Mora et al., 2025)

male sterile, with Scer\GAL4^Act5C.PI

(Mora et al., 2025)

Phenotype Manifest In

dendrite, with Scer\GAL4^ppk.PG

(Mora et al., 2025)

larval multidendritic class IV neuron, with Scer\GAL4^ppk.PG

(Mora et al., 2025)

motor neuron | larval stage, with Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

synapse | larval stage, with Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has decreased rate of adult locomotory behavior phenotype, suppressible | partially by PBac{5xtRNA^Gly-GCC}

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^ppk.PG has abnormal neuroanatomy | larval stage phenotype, suppressible | partially by PBac{5xtRNA^Gly-GCC}

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has decreased rate of adult locomotory behavior phenotype, suppressible | partially by PBac{10xtRNA^Gly-GCC.scramble}

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has decreased size | larval stage phenotype, suppressible | partially by PBac{10xtRNA^Gly-GCC.scramble}

(Mora et al., 2025)

NOT suppressed by

Statement

Reference

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has decreased rate of adult locomotory behavior phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has decreased size | larval stage phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^ppk.PG has abnormal neuroanatomy | larval stage phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^ppk.PG

(Mora et al., 2025)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has motor neuron | larval stage phenotype, suppressible | partially by PBac{10xtRNA^Gly-GCC.scramble}

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^ppk.PG has larval multidendritic class IV neuron phenotype, suppressible | partially by PBac{5xtRNA^Gly-GCC}

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^ppk.PG has dendrite phenotype, suppressible | partially by PBac{5xtRNA^Gly-GCC}

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has synapse | larval stage phenotype, suppressible | partially by PBac{10xtRNA^Gly-GCC.scramble}

(Mora et al., 2025)

NOT suppressed by

Statement

Reference

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has synapse | larval stage phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^VGlut1-OK371 has motor neuron | larval stage phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^VGlut1-OK371

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^ppk.PG has larval multidendritic class IV neuron phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^ppk.PG

(Mora et al., 2025)

Hsap\GARS1^H418R.UAS, Scer\GAL4^ppk.PG has dendrite phenotype, non-suppressible by GlyRS^UAS.Tag:MYC, Scer\GAL4^ppk.PG

(Mora et al., 2025)

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\GARS1^H418R.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections