FlyBase Allele Report: Hsap\RAF1[L613V.UAS]

General Information

Symbol

Hsap\RAF1^L613V.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0368729

Feature type

allele

Associated gene

Hsap\RAF1

Associated Insertion(s)

Carried in Construct

P{UAS-hRAF1.L613V}

Key Links

Transgenic product class

missense_variant

(Das et al., 2021)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Das et al., 2021)

Mutagen

in vitro construct

(Das et al., 2021)

Progenitor genotype

Carried in construct

P{UAS-hRAF1.L613V}

Cytology

Description

UASt regulates expression of a Hsap\RAF1 L613V variant found in patients with a RASopathy.

(Das et al., 2021)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\RAF1

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 Noonan syndrome

CEA

(Das 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.

(Das et al., 2021)

RAF1:p.Leu613Val

(FlyBase curators, 2019-)

Variants Synonym(s)

RAF1:p.Leu633Val

Leu580Val

Leu532Val

Leu499Val

Associated human disease model(s)

External database links

ClinVar: 13960

Comments concerning this variant

Phenotypic Data

Phenotypic Class

lethal - all die before end of P-stage | heat sensitive, with Scer\GAL4^C-765

(Das et al., 2021)

lethal - all die before end of P-stage | heat sensitive, with Scer\GAL4^ptc.PU

(Das et al., 2021)

partially lethal, with Scer\GAL4^byn.PU

(Das et al., 2021)

Phenotype Manifest In

first basal wing cell, with Scer\GAL4^ptc.PU

(Das et al., 2021)

wing vein | ectopic, with Scer\GAL4^C-765

(Das et al., 2021)

wing vein | ectopic, with Scer\GAL4^ptc.PU

(Das et al., 2021)

Detailed Description

Statement

Reference

Expressing Hsap\RAF1^L613V.UAS under the control of Scer\GAL4^ptc.PU induces increased wing vein material in the L3/L4 inter-vein region. Expression under the control of Scer\GAL4^C-765 results in increased venation in the wing.

(Das et al., 2021)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Hsap\RAF1^L613V.UAS, Scer\GAL4^C-765 has increased mortality during development | heat sensitive phenotype, suppressible | partially by HDAC1^RNAi.UAS.cUa, Scer\GAL4^C-765

(Das et al., 2021)

Other

Statement

Reference

HDAC1^RNAi.UAS.cUa, Hsap\RAF1^L613V.UAS, Scer\GAL4^C-765 has partially lethal - majority die phenotype

(Das et al., 2021)

Phenotype Manifest In

Suppressed by

Statement

Reference

Hsap\RAF1^L613V.UAS, Scer\GAL4^C-765 has wing vein | ectopic phenotype, suppressible | partially by HDAC1^RNAi.UAS.cUa, Scer\GAL4^C-765

(Das et al., 2021)

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\RAF1^L613V.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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