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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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USP54 (1 of 2)
- Ensembl ID:
- ENSDARG00000077749
- Description:
- ubiquitin specific peptidase 54 [Source:HGNC Symbol;Acc:23513]
- Human Orthologue:
- USP54
- Human Description:
- ubiquitin specific peptidase 54 [Source:HGNC Symbol;Acc:23513]
- Mouse Orthologue:
- Usp54
- Mouse Description:
- ubiquitin specific peptidase 54 Gene [Source:MGI Symbol;Acc:MGI:1926037]
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa5853 | Nonsense | Mutation detected in F1 DNA | During 2016 |
| sa11909 | Nonsense | Available for shipment | Available now |
| sa22106 | Essential Splice Site | Mutation detected in F1 DNA | During 2016 |
Mutation Details
- Allele Name:
- sa5853
- 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 2016.
- Mutation:
- T > A
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111558 | Nonsense | 339 | 1256 | 9 | 19 |
- Genomic Location (Zv9):
- Chromosome 12 (position 27803332)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 26140941 - KASP Assay ID:
- 554-3907.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TCCGAACGATCATAGATTGGTCCCAAGTGGAAGGACGTGGYGTCGAGATG[T/A]ATAAAAGGCCACTACCAACCTCTATTGCTGCTGTATGCTGACCCGCGTGG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa11909
- Current Status:
-
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- Mutation:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111558 | Nonsense | 605 | 1256 | 11 | 19 |
- Genomic Location (Zv9):
- Chromosome 12 (position 27797766)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 26135375 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- GGGGTGCGGTGGAGCCGGGAGTTGAGCATGTGCCAAACCCACCACCTTTA[C/T]GAGGTGTAGAACAGCAGCCTCGGCTGATCCAGAGGATGGAGAGTGGCKAC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa22106
- 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 2016.
- Mutation:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000111558 | Essential Splice Site | 784 | 1256 | 14 | 19 |
- Genomic Location (Zv9):
- Chromosome 12 (position 27791760)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 12 26128569 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CAGGCTGGGGACACAGCTACAGCCCTGGCGCTCTCCCACCACGCCGTGTG[T/G]AAGTAATTCTCACCTGCCTTTGCTTGCTATGCCCAACTCCTACGCTCTCT
- Associated Phenotype:
- Not determined
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