ufd1l

Ensembl ID:
ENSDARG00000010051
ZFIN ID:
ZDB-GENE-040718-150
Description:
ubiquitin fusion degradation protein 1 homolog [Source:RefSeq peptide;Acc:NP_001002451]
Human Orthologue:
UFD1L
Human Description:
ubiquitin fusion degradation 1 like (yeast) [Source:HGNC Symbol;Acc:12520]
Mouse Orthologue:
Ufd1l
Mouse Description:
ubiquitin fusion degradation 1 like Gene [Source:MGI Symbol;Acc:MGI:109353]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa15706 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa15706
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000034968 Essential Splice Site 1 308 None 12
ENSDART00000132139 Essential Splice Site 1 100 None 5
ENSDART00000137252 Essential Splice Site 1 148 None 5
ENSDART00000143139 Essential Splice Site 1 99 None 5

The following genes are also affected by this mutation:

Genomic Location:
Chromosome 8 (position 4969922)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCCAATCATTGCTGAATTTCWGCTGTCAGGCAGATAAACAACTAAYATGG[T/G]GAGTAATCGATTCTGAACTAYCTTTWCATTTGCATTTCAGCATTYRGTTT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/ttcyk65d