FlyBase Allele Report: Dmel\csw[T73I.UASp]

General Information

Symbol

Dmel\csw^T73I.UASp

Species

D. melanogaster

Name

FlyBase ID

FBal0360799

Feature type

allele

Associated gene

Dmel\csw

Associated Insertion(s)

Carried in Construct

P{UASp-csw.T73I}

Key Links

Genomic Maps

JBrowse

Transgenic product class

missense_variant

(Pagani et al., 2009)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Pagani et al., 2009)

Mutagen

in vitro construct

(Pagani et al., 2009)

Progenitor genotype

Carried in construct

P{UASp-csw.T73I}

Cytology

Description

UASp regulatory sequences drive expression of csw containing the amino acid replacement equivalent to the T73I mutation in the human ortholog Hsap\PTPN11, which is associated with Noonan syndrome and leukemia.

(Pagani et al., 2009)

Allele components

Component

Use(s)

Regulatory region(s)

UASp

binary expression system - regulatory region

Encoded product / tool

csw

Mutations Mapped to the Genome

Curation Data

Type

Location

Additional Notes

References

point_mutation

X:2,103,730..2,103,730 [+]

Nucleotide change:

C2103730T

Amino acid change:

T195I | csw-PB

Comment:

Analogous mutation in human PTPN11 implicated in Noonan syndrome 1 and juvenile myelomonocytic leukemia; mutation carried on in vitro construct; site of nucleotide substitution in fly gene inferred by FlyBase curator based on reported amino acid change.

(Pagani et al., 2009)

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 1

CEA

(Ruzzi et al., 2020, Pagani et al., 2009)

model of juvenile myelomonocytic leukemia

CEA

(Pagani et al., 2009)

CEC

(Ruzzi et al., 2020)

model of leukemia

CEA

(Ruzzi et al., 2020)

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.

(Pagani et al., 2009)

PTPN11:p.Thr73Ile

(FlyBase curators, 2019-)

Variants Synonym(s)

PTPN11:p.Thr72Ile

Associated human disease model(s)

External database links

ClinVar: 13334

Comments concerning this variant

Phenotypic Data

Phenotypic Class

lethal, with Scer\GAL4^Tub.PU

(Ruzzi et al., 2020)

short lived, with Scer\GAL4^r4

(Ruzzi et al., 2020)

viable, with Scer\GAL4^arm.PS

(Ruzzi et al., 2020)

Phenotype Manifest In

wing vein | ectopic, with Scer\GAL4^Bx-MS1096

(Ruzzi et al., 2020)

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

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

csw^T73I.UASp

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

Open Close