ZMP

uchl3

Ensembl ID:

ENSDARG00000030177

ZFIN ID:

ZDB-GENE-050522-158

Description:

ubiquitin carboxyl-terminal hydrolase isozyme L3 [Source:RefSeq peptide;Acc:NP_001019576]

Human Orthologue:

UCHL3

Human Description:

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) [Source:HGNC Symbol;Acc:12515]

Mouse Orthologues:

Uchl3, Uchl4

Mouse Descriptions:

ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) Gene [Source:MGI Symbol;Acc:MGI:13
ubiquitin carboxyl-terminal esterase L4 Gene [Source:MGI Symbol;Acc:MGI:1890440]

Alleles

There is 1 allele of this gene:

Allele Name	Consequence	Status	Availability
sa11118	Essential Splice Site	Available for shipment	Available now

Mutation Details

Allele Name:

sa11118

Status:

Available for shipment
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Availability:

Order Allele From ZIRC
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Mutation:

T > A

Consequence:

Essential Splice Site

Transcripts:

Transcript ID	Consequence	Amino Acid Affected	Amino Acid Total	Exon Affected	Exon Total
ENSDART00000039760	Essential Splice Site	14	228	None	8
ENSDART00000104322	Essential Splice Site	14	230	None	9

The following transcripts of ENSDARG00000030177 do not overlap with this mutation:

ENSDART00000142831

Genomic Location (Zv9):

Chromosome 9 (position 23009829)

Other Location(s):

Assembly	Chromosome	Position
GRCz10	9	22165615
GRCz11	9	21976484

KASP Assay ID:

None (used for ordering genotyping assays)

KASP Sequence:

ATCTGAGATGGAGGGCCAGCGCTGGTTACCACTGGAAGCAAACCCAGAGG[T/A]AAGAGTWACTCCTCAATCTCACGGTCTTTCGCCGTGAATTCAGTTTTTTT

Long Flanking Sequence:

ATATATATATATATATATTTCGCAATGATAAAATAACTACATAACTCAAAATAACTCAAAGAGGTAATATTATTGATATTTTACAAATCACAATTACGGTGTTTATAAGAAACTTGCCGTTGTGTAATCTATATTTTGATCTAAATTTTATATTAACACATTATACATGTATTATATACTAAAATAGTAATGGTACGTTTTAAGGAATGATGCCGTTTGGAATTAGTAAAATGTTCTTTGAAATAAAATATGATCAGAATATCACCTTGTAAACTATTAAACGACGACTTTTATTTTGAAGTTTTTAGCCGGTCTTTATGTCAGTGGCTGAGTTCACAGCCCCGCGCGCACATATTCCATTGAGCTTCCTCCTCAGCTGTCAAAGCCTCTGCACACCATTGCTCGAGGTAGCAAAATCATCTTTTTATTTAGGATTTTAGGCAGAGCTTAATCTGAGATGGAGGGCCAGCGCTGGTTACCACTGGAAGCAAACCCAGAGG[T/A]AAGAGTTACTCCTCAATCTCACGGTCTTTCGCCGTGAATTCAGTTTTTTTTCGTTCATCCGTTCGTTTTTTCATTGGCAGCTTATAGCAGAAACGGTAAGCTGCACCTCATGTGTTTGACATCCTATTTTATATGACACTGTTTTGTGTTCTGTGTCTGCTTTACAGGTTATGAACCAAGTGAGTAGATGTCTCGACTCTCTGGGTGTGTCTAGGATTCAAAACTTGTGCCAAATGAATGAATCAGGTTTATTAAAGCACGCTATGATAAAGCTAATGGCATCCACTTTGATTTATTATGCTTATCAACACTACTACTGAGCTTAATATGTTGTTTGTAGCGTTATTGTTTTTTTAACTATTGTAAAATATTATTTATATTCCACTTTAATGTATGATAAATCTGTTTAAATGGAAAAGGTTCTTGATTGAGCAGGCCCTTGTCTCTGTAAACGGCCTCTATTACTACTCTTATGAGTTAGGACTTGTGTTTAATATGTA

Associated Phenotype:

Not determined