FlyBase Allele Report: Hsap\FARS2[G309S.UAS]

General Information

Symbol

Hsap\FARS2^G309S.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0371475

Feature type

allele

Associated gene

Hsap\FARS2

Associated Insertion(s)

Carried in Construct

M{UAS-hFARS2.G309S}

Key Links

Transgenic product class

cDNA

(Fan et al., 2021)

missense_variant

(Fan et al., 2021)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

cDNA

(Fan et al., 2021)

missense_variant

(Fan et al., 2021)

Mutagen

in vitro construct

(Fan et al., 2021)

Progenitor genotype

Carried in construct

M{UAS-hFARS2.G309S}

Cytology

Description

UASt regulates expression of a Hsap\FARS2 CDS fragment (1356 bp) containing a mutation of c.G925A (p.G309S), which has been linked with the early-onset epileptic mitochondrial encephalopathy.

(Fan et al., 2021)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\FARS2

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 neonatal period electroclinical syndrome

CEA with PheRS-m^KO

(Fan et al., 2021)

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.

(Fan et al., 2021)

FARS2:p.Gly309Ser

(FlyBase curators, 2019-)

Variants Synonym(s)

FARS2:p.Gly265Ser

FARS2:p.Gly77Ser

Associated human disease model(s)

External database links

ClinVar: 587672

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Scer\GAL4^da.PU/Hsap\FARS2^G309S.UAS is a suppressor | partially of abnormal developmental rate | recessive | larval stage phenotype of PheRS-m^KO

(Fan et al., 2021)

Scer\GAL4^da.PU/Hsap\FARS2^G309S.UAS is a suppressor | partially of increased mortality during development phenotype of PheRS-m^KO

(Fan et al., 2021)

Other

Statement

Reference

Hsap\FARS2^G309S.UAS, PheRS-m^KO, Scer\GAL4^da.PU has bang sensitive phenotype

(Fan et al., 2021)

Hsap\FARS2^G309S.UAS, PheRS-m^KO, Scer\GAL4^da.PU has partially lethal - majority live phenotype

(Fan et al., 2021)

Hsap\FARS2^G309S.UAS, PheRS-m^KO, Scer\GAL4^da.PU has abnormal locomotor behavior | adult stage phenotype

(Fan et al., 2021)

Hsap\FARS2^G309S.UAS, PheRS-m^KO, Scer\GAL4^da.PU has some die during larval stage phenotype

(Fan et al., 2021)

Phenotype Manifest In

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

PheRS-m^KO homozygotes rescued to adulthood by the expression of Hsap\FARS2^G309S.UAS under the control of Scer\GAL4^da.PU exhibit decreased climbing ability.

(Fan et al., 2021)

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\FARS2^G309S.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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