FlyBase Allele Report: Dmel\Pngl[ex14]

General Information

Symbol

Dmel\Pngl^ex14

Species

D. melanogaster

Name

FlyBase ID

FBal0244826

Feature type

allele

Associated gene

Dmel\Pngl

Associated Insertion(s)

Carried in Construct

Key Links

Allele class

Mutagen

Delta2-3 transposase

Nature of the Allele

Allele class

Mutagen

Delta2-3 transposase

(Funakoshi et al., 2010)

Progenitor genotype

P{SUPor-P}Pngl^KG05548

(Funakoshi et al., 2010)

Cytology

Description

Imprecise excision of the progenitor insertion, resulting in a deletion that removes part of the Pngl transcription unit. The deletion extends from just upstream of the shorter Pngl-RA transcript (within the second intron of the larger Pngl-RB transcript) into the protein coding region, and is predicted to express an in-frame truncated protein.

(Funakoshi et al., 2010)

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 NGLY1-deficiency

CEA

(Galeone et al., 2020, Han et al., 2020, Galeone et al., 2017)

CEA with Pngl^C303A.UASp

(Galeone et al., 2017)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of NGLY1-deficiency

is ameliorated by Hsap\NGLY1^UAS.cGa

(Galeone et al., 2020)

is ameliorated by dpp^HA-3NQ

(Galeone et al., 2020)

is ameliorated by AMPKα^UAS.cMa

(Han et al., 2020)

is ameliorated by AMPKα^T184D.UAS

(Han et al., 2020)

is ameliorated by Pngl^UASp.cFa

(Han et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

abnormal developmental rate | larval stage (with Pngl^ex20)

(Funakoshi et al., 2010)

abnormal size | larval stage | recessive

(Galeone et al., 2017)

female sterile (with Pngl^ex20)

(Funakoshi et al., 2010)

male sterile (with Pngl^ex20)

(Funakoshi et al., 2010)

partially lethal - majority die

(Galeone et al., 2017)

partially lethal - majority die (with Df(2R)ED1484)

(Galeone et al., 2017)

partially lethal - majority die (with Df(2R)nap9)

(Funakoshi et al., 2010)

partially lethal - majority die (with Pngl^ex20)

(Funakoshi et al., 2010)

partially lethal - majority die | recessive

(Funakoshi et al., 2010)

short lived (with Pngl^ex20)

(Funakoshi et al., 2010)

short lived | recessive

(Galeone et al., 2017)

sterile

(Galeone et al., 2017)

viable (with Pngl^KG05548)

(Funakoshi et al., 2010)

Phenotype Manifest In

embryonic/larval midgut | embryonic stage 16

(Galeone et al., 2017)

embryonic/larval midgut | larval stage

(Galeone et al., 2017)

gastric caecum | larval stage

(Galeone et al., 2017)

midgut | larval stage

(Galeone et al., 2017)

Detailed Description

Statement

Reference

Pngl^ex14 homozygotes are nearly lethal and the rare escapers are sterile; the escapers also exhibit a decreased lifespan, as compared to heterozygous controls. The Pngl^ex14 homozygous embryonic midgut lacks the prominent second constriction normally observed in controls, and the corresponding larval midgut exhibits severely shortened gastric caeca, a decreased acid zone and impaired food clearing during the wandering stage, as compared to controls. Likewise, Pngl^ex14/Df(2R)ED1484 transheterozygotes are nearly lethal and their larval midguts exhibit decreased acid zone, as compared to heterozygous controls.

(Galeone et al., 2017)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressed by

Statement

Reference

Pngl^ex14 has partially lethal - majority die phenotype, suppressible by tkv^CA.UAS/Scer\GAL4^Mef2.PU

(Galeone et al., 2017)

Pngl^ex14 has partially lethal - majority die phenotype, suppressible by Hsap\NGLY1^UAS.cGa/Scer\GAL4^Act5C.PI

(Galeone et al., 2017)

Pngl^ex14 has sterile phenotype, suppressible by Hsap\NGLY1^UAS.cGa/Scer\GAL4^Act5C.PI

(Galeone et al., 2017)

Pngl^ex14 has short lived | recessive phenotype, suppressible | partially by Hsap\NGLY1^UAS.cGa/Scer\GAL4^Act5C.PI

(Galeone et al., 2017)

Pngl^ex14 has partially lethal - majority die phenotype, suppressible by Hsap\NGLY1^UAS.cGa/Scer\GAL4^Mef2.PU

(Galeone et al., 2017)

Pngl^ex14 has partially lethal - majority die phenotype, suppressible by Hsap\NGLY1^UAS.cGa/Scer\GAL4^how-24B

(Galeone et al., 2017)

NOT suppressed by

Statement

Reference

Pngl^ex14 has partially lethal - majority die phenotype, non-suppressible by Hsap\NGLY1^ΔR402.UAS/Scer\GAL4^Act5C.PI

(Galeone et al., 2017)

Phenotype Manifest In

Suppressed by

Statement

Reference

Pngl^ex14 has embryonic/larval midgut | larval stage phenotype, suppressible by tkv^CA.UAS/Scer\GAL4^Mef2.PU

(Galeone et al., 2017)

Additional Comments

Genetic Interactions

Statement

Reference

The near lethality of Pngl^ex14 homozygotes and the decreased acid zone in their larval midgut is suppressed by the expression of tkv^CA.Scer\UAS under the control of Scer\GAL4^Mef2.PU.

(Galeone et al., 2017)

Xenogenetic Interactions

Statement

Reference

The near lethality of Pngl^ex14 homozygotes is suppressed by the expression of Hsap\NGLY1^Scer\UAS.cGa, but not of Hsap\NGLY1^{ΔR402.Scer\UAS}, under the control of Scer\GAL4^Act5C.PI, Scer\GAL4^Mef2.PU or Scer\GAL4^how-24B; the sterility and severe decrease in lifetime of their escapers are also fully and partially suppressed, respectively, by the expression of Hsap\NGLY1^Scer\UAS.cGa under the control of Scer\GAL4^Act5C.PI.

(Galeone et al., 2017)

Complementation and Rescue Data

Rescued by

Pngl^ex14 is rescued by Pngl^UASp.cFa/Scer\GAL4^Mef2.PU

(Galeone et al., 2017)

Not rescued by

Pngl^ex14 is not rescued by Scer\GAL4^Mef2.PU/Pngl^C303A.UASp

(Galeone et al., 2017)

Comments

The gastric caeca and acid zone defects observed in Pngl^ex14 homozygous larvae are rescued by the expression of Pngl^{Scer\UAS.P\T.cFa}, but not Pngl^{C303A.Scer\UAS.P\T}, under the control of Scer\GAL4^Mef2.PU.

(Galeone et al., 2017)

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

Png1ex14

(Na et al., 2022)

Pngl^ex14

(Galeone et al., 2020, Han et al., 2020, Galeone et al., 2017, Funakoshi et al., 2010)

Name Synonyms

Secondary FlyBase IDs

References (5)

Report Sections

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