FlyBase Allele Report: Hsap\PLA2G6[A80T.UAS]

General Information

Symbol

Hsap\PLA2G6^A80T.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0355559

Feature type

allele

Associated gene

Hsap\PLA2G6

Associated Insertion(s)

Carried in Construct

PBac{UAS-hPLA2G6.A80T}

Key Links

Transgenic product class

missense_variant

(Mori et al., 2019)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Mori et al., 2019)

Mutagen

in vitro construct

(Mori et al., 2019)

Progenitor genotype

Carried in construct

PBac{UAS-hPLA2G6.A80T}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\PLA2G6 cDNA with a disease-associated missense mutant (A80T).

(Mori et al., 2019)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\PLA2G6

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.

(Mori et al., 2019)

PLA2G6:p.Ala80Thr

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

External database links

ClinVar: PLA2G6_6202

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expressing Hsap\PLA2G6^A80T.UAS under the control of Scer\GAL4^elav-C155 does not affect adult climbing activity and sleep behavior, and does not induce bang sensitivity.

(Mori et al., 2019)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a suppressor | partially of short lived | heat sensitive phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a suppressor | partially of abnormal heat stress response phenotype of iPLA2-VIA^null

(Mori et al., 2019)

NOT Suppressor of

Statement

Reference

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of short lived phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of abnormal locomotor behavior | adult stage | progressive phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of abnormal sleep | progressive phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of bang sensitive phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of abnormal neuroanatomy | adult stage | progressive phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of decreased cell number | adult stage | progressive phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of abnormal neurophysiology | third instar larval stage phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Phenotype Manifest In

Suppressor of

Statement

Reference

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a suppressor | partially of endoplasmic reticulum | third instar larval stage phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a suppressor of synaptic vesicle | third instar larval stage phenotype of iPLA2-VIA^null

(Mori et al., 2019)

NOT Suppressor of

Statement

Reference

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of adult brain phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Scer\GAL4^elav-C155/Hsap\PLA2G6^A80T.UAS is a non-suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of iPLA2-VIA^null

(Mori et al., 2019)

Other

Statement

Reference

Hsap\PLA2G6^A80T.UAS, Scer\GAL4^elav-C155, iPLA2-VIA^null has endoplasmic reticulum | third instar larval stage phenotype

(Mori et al., 2019)

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\PLA2G6^A80T.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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