ZMP

vps53

Ensembl ID:

ENSDARG00000069324

ZFIN IDs:

ZDB-GENE-041114-199, ZDB-GENE-041114-199

Description:

vacuolar protein sorting 53 homolog [Source:RefSeq peptide;Acc:NP_001007459]

Human Orthologue:

VPS53

Human Description:

vacuolar protein sorting 53 homolog (S. cerevisiae) [Source:HGNC Symbol;Acc:25608]

Mouse Orthologue:

Vps53

Mouse Description:

vacuolar protein sorting 53 (yeast) Gene [Source:MGI Symbol;Acc:MGI:1915549]

Alleles

There are 4 alleles of this gene:

Allele Name	Consequence	Status	Availability
sa18666	Nonsense	Available for shipment	Available now
sa32036	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa18666

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
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Mutation:

C > T

Consequence:

Nonsense

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000078095	None	None	158	None	9
ENSDART00000122184	Nonsense	276	832	9	22

Genomic Location (Zv9):

Chromosome 15 (position 24481573)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	25192760
GRCz11	15	25128025

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

AGTTCATCCGGCARCACCTTTCAGAATACATGGTGCTTTTTCAAGAGAAT[C/T]AAGATGTGAGTGTGACTTTTATTTATWTRATAATACTGTGAAGTGCCTTC

Long Flanking Sequence:

AAATTCTAGATGCACTTGCTGAAAATCAAAACTAAAAATGCTTTGTGATAATTATTTATTATTTTATTACATAGCTGCAATTTTCTTTGGGAAAATGTATGACCTGTCGATATCAATTTTTGCAGATTCCGATTTCATTTTCTTTTCATTTGTCAGAATTGCTTTTGACCAAGACAATTGTTTTTGTCCCTCCTCAGAGTAAAAGCTGCACAGAGTGAACTTGGTACACAGATACTGGCTGACTTTGAGGAGACGTTTCCTGCCCAGGGGTCAAAGGTAAGGATGCGGCTTTGGGATCACAAATAATCAACTCTTATAGTCTCTGAATCACTTCAGTGACAGATTTAACTTGTTGTTTGCAGAAATCTGGAGGTCCCAGCATTGTTCTCAGAGATGCCTGTTTGGTGGCAAATGTCCTGGATCCTCGGATTAAGCAAGAGATCATCAAAAAGTTCATCCGGCAGCACCTTTCAGAATACATGGTGCTTTTTCAAGAGAAT[C/T]AAGATGTGAGTGTGACTTTTATTTATTTGATAATACTGTGAAGTGCCTTCTCATTTACAGTTCTGCTGATTGTCCTGAGTACAGGTGGCATGGCTGGACAAGATTGACCGGCGATATGCATGGATCAAGCGTCAACTGGTGGATTATGAGGAGAAATATGGACGAATGTTTCCTGAAGAGTGGTGCATGACTGAACGCATCGCTGTTGAGTTCTGTCACATCACCAGGTACTGCTTCAATTCCTCACTTTATGCTGCTGCTTCTTTATTAGCTTCTAAATTGTGGAATTTTTTTTGATGTCACTGGTCAGGTGTGCATTAATTTTTTATAAATATATTCTTAGGGTGTTTACAGGTTTATATGCTCATTTAAACCAGAGGAATAACCCCTAGAATAAAAAGCACAGTTTTGACCATATTTGAAGAAGTTGTAAATATAAGATATACGATTCTGATGGTATGATAGCCTTGGATAAAAATAGCACAGTTTCACAGTATTGT

Associated Phenotype:

Not determined

Mutation Details

Allele Name:

sa32036

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:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000078095	Essential Splice Site	101	158	8	9
ENSDART00000122184	Essential Splice Site	775	832	21	22

Genomic Location (Zv9):

Chromosome 15 (position 24456251)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	15	25167438
GRCz11	15	25102703

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

None

Flanking Sequence:

GCTTGCCGACAGCAATCCTGAAACCTTCCAGAAGATTCTAGATATGAAGG[T/A]AAGTAAGGCTGCGCTTCATCTGTTTCATGAGATCTGTAGAACAGAGTAGC

Long Flanking Sequence:

GCTCTGTTACAAATCTAAATAGTCGCAAGATAGCCAAATTTTTTTTTTCTAATCCTCCCACACGAATTGCAAGAATCAGATTTGCAGTGCATGCCTGTACCCCATTTAACCTTCTTTTACTGCTCTATTGAGACTCCCATTATACCCTACAAAAAATTACCGGTGAGGCTAATTCAACTCCATTCAAGCGTAGAGTAATTACGCTGGTAAAAGAGCGTCTTAAATACACTCTTCAAGTTTTTTTTGCTCTTTGTTTAGCTCTTTATCTTTCAGCTCCGCGTATTATTATGTTGCCTCTTGCTCGTCGAGTGGGTCTCATGTGGAAATGTTTCTTTGGTGAGAGTTTGGGGAGTACGGCTGTAGTTTAGCTCACTTGTTTGTCTTCACCTCTCAGGTGGTCATGGCCCCTCACGAGCCATCTGTGGTGTTTGTGGACAACTACATTAAACTGCTTGCCGACAGCAATCCTGAAACCTTCCAGAAGATTCTAGATATGAAGG[T/A]AAGTAAGGCTGCGCTTCATCTGTTTCATGAGATCTGTAGAACAGAGTAGCCACAGAACCACAATTTTAATACAATCTTTACAGATCATTAAAATGTGTTATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATGTCATTAAAATATTCTGAATCATTTTAAATGGTTAGTTCACCCCAAACTTAAAAAAAAAAAAAATTATTAATTACACACCCTCGCGGTTTTAATCCACCAAGACCTTAAGTCATTTCCAGAACACAAATTAAGATGTTTTAGATGAAATCTGACAGCTCCCTTTATTTATTTCTCTAGCACTTGTACAATGTAGATTGTGTCAAAGCAGCTTAACATAGAAGATCATAGTAGATTTACAGTGTGTCAATCCAGTTTTCAGAGTTGAAGTTCAGTTTAGTTCAGTTCAGTTCAGTGTGGTTTAATTTTCACTGC

Associated Phenotype:

Not determined