zgc:195037

Ensembl ID:
ENSDARG00000002980
ZFIN ID:
ZDB-GENE-081022-176
Description:
vacuolar protein sorting-associated protein 54 [Source:RefSeq peptide;Acc:NP_001124248]
Human Orthologue:
VPS54
Human Description:
vacuolar protein sorting 54 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:18652]
Mouse Orthologue:
Vps54
Mouse Description:
vacuolar protein sorting 54 (yeast) Gene [Source:MGI Symbol;Acc:MGI:2178798]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa32785 Nonsense Available for shipment Available now
sa2004 Essential Splice Site F2 line generated During 2018
sa32784 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa32785
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074034 Nonsense 128 997 2 22
Genomic Location (Zv9):
Chromosome 1 (position 55576823)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 54359844
GRCz11 1 55037495
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ATGCCTTCATTCTACCTGCCCAACATCACCCGAGAACACTTCAGCTCATA[C/A]CTGCAGGACACGGCTCAGGTGAACACACACACACACACACACACACACAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2004
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074034 Essential Splice Site 442 997 9 22
ENSDART00000074034 Essential Splice Site 442 997 9 22
Genomic Location (Zv9):
Chromosome 1 (position 55564019)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 54347586
GRCz11 1 55025237
KASP Assay ID:
554-3242.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGTGAAGTCCCTGTCTCAGGTCAATGAGGTCGACGCAGACACTGTCAGG[T/C]GAGTTCACTTCTCTATAAATCCCACATTTCWATAATAATYACTAGCCGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32784
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000074034 Nonsense 931 997 20 22
Genomic Location (Zv9):
Chromosome 1 (position 55553165)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 54336104
GRCz11 1 55013755
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCTGAAGATGCACGAGGCCATTCATGAGCTGCTGCCGGAGGAACAAACG[C/T]AGGTCAGACACACTCACACACATGTTTGTTTTTGTGAATTGTGGGGACAT
Associated Phenotype:
Not determined

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