FlyBase Allele Report: Hsap\SIGMAR1[E102Q.UAS]

General Information

Symbol

Hsap\SIGMAR1^E102Q.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0359877

Feature type

allele

Associated gene

Hsap\SIGMAR1

Associated Insertion(s)

Carried in Construct

P{UAS-hSIGMAR1.E102Q}

Key Links

Transgenic product class

missense_variant

(Couly et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Couly et al., 2020)

Mutagen

in vitro construct

(Couly et al., 2020)

Progenitor genotype

Carried in construct

P{UAS-hSIGMAR1.E102Q}

Cytology

Description

UASt regulatory sequences drive expression of a Hsap\SIGMAR1 cDNA that has been mutated to carry a E102Q amino acid change; this variant has been identified in a few cases of juvenile amyotrophic lateral sclerosis.

(Couly et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\SIGMAR1

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 amyotrophic lateral sclerosis type 16

CEA

(Couly et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of amyotrophic lateral sclerosis type 16

is ameliorated by Hsap\SLC2A3^UAS.cBa

(Couly et al., 2020)

is ameliorated by Itpr^UAS.cVa

(Couly et al., 2020)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Couly et al., 2020)

SIGMAR1:p.Glu102Gln

(FlyBase curators, 2019-)

Variants Synonym(s)

SIGMAR1:p.Glu82Gln

Associated human disease model(s)

amyotrophic lateral sclerosis 16 (postulated)

External database links

ClinVar: 30238

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible | adult stage, with Scer\GAL4^GMR.PU

(Lee et al., 2020)

Phenotype Manifest In

eye, with Scer\GAL4^GMR.PU

(Lee et al., 2020)

Detailed Description

Statement

Reference

Expression of Hsap\SIGMAR1^E102Q.UAS under the control of Scer\GAL4^GMR.PU leads to rough eyes.

(Lee et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\SIGMAR1^E102Q.UAS, Scer\GAL4^GMR.PU has visible | adult stage phenotype, enhanceable by Zzzz\GGGGCC^30.UAS.EGFP, Scer\GAL4^GMR.PU

(Lee et al., 2020)

NOT Enhancer of

Statement

Reference

Hsap\SIGMAR1^E102Q.UAS, Scer\GAL4^elav-C155 is a non-enhancer of abnormal locomotor behavior | adult stage phenotype of Scer\GAL4^elav-C155, Zzzz\GGGGCC^30.UAS.EGFP

(Lee et al., 2020)

NOT Suppressor of

Statement

Reference

Hsap\SIGMAR1^E102Q.UAS, Scer\GAL4^elav-C155 is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of Scer\GAL4^elav-C155, Zzzz\GGGGCC^30.UAS.EGFP

(Lee et al., 2020)

Other

Statement

Reference

Hsap\SIGMAR1^E102Q.UAS, Scer\GAL4^GMR.PU, Zzzz\GGGGCC^30.UAS.EGFP has short lived phenotype

(Lee et al., 2020)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\SIGMAR1^E102Q.UAS, Scer\GAL4^GMR.PU has eye phenotype, enhanceable by Zzzz\GGGGCC^30.UAS.EGFP, Scer\GAL4^GMR.PU

(Lee et al., 2020)

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\SIGMAR1^E102Q.UAS

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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