FB2024_03 , released June 25, 2024
Allele: Dmel\Khc10
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General Information
Symbol
Dmel\Khc10
Species
D. melanogaster
Name
FlyBase ID
FBal0029869
Feature type
allele
Associated gene
Dmel\Khc
Associated Insertion(s)
Carried in Construct
Key Links
Genomic Maps

Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
ethyl methanesulfonate
(Djagaeva et al., 2012, Saxton et al., 1991)
Progenitor genotype
Cytology
Description

Amino acid replacement: T323S.

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)

Amino acid replacement: E357K.

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)

Nucleotide substitution: A1287T.

(Brendza, 2000.3.2)

Nucleotide substitution: G1389A.

(Brendza, 2000.3.2)

Revision of data reported in FBrf0111813.

(Brendza, 2000.3.2)
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
point_mutation
2R:16,269,296..16,269,296 [-]
Nucleotide change:

A16269296T

Reported nucleotide change:

A1287T

Reported nucleotide change:

A12156801T

Amino acid change:

T323S | Khc-PA

Reported amino acid change:

T323S

Comment:

one of two missense mutations in mutant

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)
point_mutation
2R:16,269,194..16,269,194 [-]
Nucleotide change:

G16269194A

Reported nucleotide change:

G1389A

Reported nucleotide change:

C12156699T

Amino acid change:

E357K | Khc-PA

Reported amino acid change:

E357K

Comment:

one of two missense mutations in mutant

Comment:

Reported base location of mutation is relative to noncoding strand.

(Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)
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)
       
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Khc10/Khc27 larvae show reduced flux of both neurosecretory dense core vesicles and mitochondria along the axons compared to wild type.

      (Djagaeva et al., 2012)

      Hemizygotes do not survive to adulthood.

      (Brendza et al., 1999)

      Larval growth abnormalities and lack of mobility.

      (Saxton et al., 1991)
      External Data
      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
      Rescued by

      Khc10 is rescued by Khc+t7.5

      (Saxton et al., 1991)
      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
      Khc10
      (Djagaeva et al., 2012, Brendza, 2000.3.2, Brendza et al., 1999)
      Name Synonyms
      Secondary FlyBase IDs
        References (4)