Busch Lab

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 are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa11118 Essential Splice Site Available for shipment Available now
sa41404 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa11118
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
Order Allele From EZRC
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:

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

Mutation Details

Allele Name:
sa41404
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039760 Nonsense 48 228 2 8
ENSDART00000104322 Nonsense 50 230 3 9

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

Genomic Location (Zv9):
Chromosome 9 (position 23009208)
Other Location(s):
Assembly Chromosome Position
GRCz10 9 22164994
GRCz11 9 21975863
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGTACGGCTTGGAGCTTGAAGTTCTCAGTTTGGTGCCAAGGCCTGTGTG[C/A]GCTGTACTTTTGCTCTTCCCTATAACAGAGAAGGTACAATTGCACTTTAC
Long Flanking Sequence:
ATCCTATTTTATATGACACTGTTTTGTGTTCTGTGTCTGCTTTACAGGTTATGAACCAAGTGAGTAGATGTCTCGACTCTCTGGGTGTGTCTAGGATTCAAAACTTGTGCCAAATGAATGAATCAGGTTTATTAAAGCACGCTATGATAAAGCTAATGGCATCCACTTTGATTTATTATGCTTATCAACACTACTACTGAGCTTAATATGTTGTTTGTAGCGTTATTGTTTTTTTAACTATTGTAAAATATTATTTATATTCCACTTTAATGTATGATAAATCTGTTTAAATGGAAAAGGTTCTTGATTGAGCAGGCCCTTGTCTCTGTAAACGGCCTCTATTACTACTCTTATGAGTTAGGACTTGTGTTTAATATGTATTTGTTGTGTTATACTTTTGTTAAGTTTTTACGGCAGCTTGGCTTGGTACCCACCTGGCAGTTTGGAGATGTGTACGGCTTGGAGCTTGAAGTTCTCAGTTTGGTGCCAAGGCCTGTGTG[C/A]GCTGTACTTTTGCTCTTCCCTATAACAGAGAAGGTACAATTGCACTTTACACCCCTATAGACTTCATGTCAGCAAACAAGCTCTGTATTTATAGATGCTTCTTTGTAGATTATGGAGGAGCAGCTGAATCTGGTTGATGGTAGCATTAGCCAATTTTGTACATTTATATTTTGCAAATTATAATACATTAAGAGACCACTAGAAATGTCTCAGATTTCATAGATTTTATAAAGGTCTGGTAATGTTTCTATTAGATTTCAAATTTTAAAATGTTGTTTTAAAATGACGATTGAAGAGAAAAAAAATTGTTGTGTCTGCAAATCAGTGTTATTCTACCATATACTGATCACAAGGCATGGGCCGGTATACTATTCTGATGGTTTGATGACGTTGAATAAAAATATCACGGTTTCACTGTATTGTCATTACTGCTCTAACATATATCCTTTTTAAATGTCTGAGTAAAAAACTCTAATTTTTACCCTTCAAACACAATATAT
Associated Phenotype:
Not determined