FlyBase Allele Report: Hsap\BSCL2[S90L.UAS]

General Information

Symbol

Hsap\BSCL2^S90L.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0260641

Feature type

allele

Associated gene

Hsap\BSCL2

Associated Insertion(s)

Carried in Construct

P{UAS-hSeipin.S90L}

Key Links

Transgenic product class

missense_variant

(Tian et al., 2011)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Tian et al., 2011)

Mutagen

in vitro construct

(Tian et al., 2011)

Progenitor genotype

Carried in construct

P{UAS-hSeipin.S90L}

Cytology

Description

UAS drives expression of a Hsap\BSCL2 cDNA containing a mutation producing a S90L substitution.

(Tian et al., 2011)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\BSCL2

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.

(Tian et al., 2011)

BSCL2:p.Ser90Leu

(FlyBase curators, 2019-)

Variants Synonym(s)

BSCL2:p.Ser154Leu

Associated human disease model(s)

External database links

ClinVar: BSCL2_4544

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

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\BSCL2^S90L.UAS/Scer\GAL4^ppl.PP is a suppressor of fat body phenotype of Seipin^null

(Tian et al., 2011)

Hsap\BSCL2^S90L.UAS/Scer\GAL4^ppl.PP is a suppressor of lipid droplet phenotype of Seipin^null

(Tian et al., 2011)

Hsap\BSCL2^S90L.UAS/Scer\GAL4^ppl.PP is a suppressor of salivary gland phenotype of Seipin^null

(Tian et al., 2011)

Hsap\BSCL2^S90L.UAS/Scer\GAL4^ppl.PP is a suppressor of lipid droplet | ectopic phenotype of Seipin^null

(Tian et al., 2011)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Lipid storage in the fat body is restored and ectopic lipid storage in the salivary gland is reversed in Seipin^null mutants with Hsap\BSCL2^{S90L.Scer\UAS} driven by Scer\GAL4^ppl.PP.

(Tian 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\BSCL2^{S90L.Scer\UAS}

Hsap\BSCL2^S90L.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close