FlyBase Allele Report: Hsap\CNOT1[R1478C.UAS]

General Information

Symbol

Hsap\CNOT1^R1478C.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0362076

Feature type

allele

Associated gene

Hsap\CNOT1

Associated Insertion(s)

Carried in Construct

P{UAS-hCNOT1.R1478C}

Key Links

Transgenic product class

missense_variant

(Vissers et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Vissers et al., 2020)

Mutagen

in vitro construct

(Vissers et al., 2020)

Progenitor genotype

Carried in construct

P{UAS-hCNOT1.R1478C}

Cytology

Description

UASt regulatory sequences drive expression of a mutated Hsap\CNOT1 cDNA that carries a p.Arg1478Cys amino acid substitution, a likely pathogenic variant that has been identified in patients.

(Vissers et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\CNOT1

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.

(Vissers et al., 2020)

CNOT1:p.Arg1478Cys

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Vissers-Bodmer syndrome

External database links

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

NOT Enhancer of

Statement

Reference

Hsap\CNOT1^R1478C.UAS, Scer\GAL4^{elav.Switch.PO} is a non-enhancer of abnormal memory | adult stage | RU486 conditional phenotype of Not1^GD4070, Scer\GAL4^{elav.Switch.PO}

(Vissers et al., 2020)

Hsap\CNOT1^R1478C.UAS, Scer\GAL4^{elav.Switch.PO} is a non-enhancer of abnormal memory | third instar larval stage | RU486 conditional phenotype of Not1^GD4070, Scer\GAL4^{elav.Switch.PO}

(Vissers et al., 2020)

NOT Suppressor of

Statement

Reference

Hsap\CNOT1^R1478C.UAS, Scer\GAL4^{elav.Switch.PO} is a non-suppressor of abnormal memory | adult stage | RU486 conditional phenotype of Not1^GD4070, Scer\GAL4^{elav.Switch.PO}

(Vissers et al., 2020)

Hsap\CNOT1^R1478C.UAS, Scer\GAL4^{elav.Switch.PO} is a non-suppressor of abnormal memory | third instar larval stage | RU486 conditional phenotype of Not1^GD4070, Scer\GAL4^{elav.Switch.PO}

(Vissers et al., 2020)

Phenotype Manifest In

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\CNOT1^R1478C.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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