ZMP
usp48
Ensembl ID:
ZFIN ID:
Description:
Zgc:112364 [Source:UniProtKB/TrEMBL;Acc:Q4VBI3]
Human Orthologue:
USP48
Human Description:
ubiquitin specific peptidase 48 [Source:HGNC Symbol;Acc:18533]
Mouse Orthologue:
Usp48
Mouse Description:
ubiquitin specific peptidase 48 Gene [Source:MGI Symbol;Acc:MGI:2158502]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa21958 | Essential Splice Site | Available for shipment | Available now |
| sa27819 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa21958
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123591 | Essential Splice Site | 391 | 1055 | 9 | 27 |
| ENSDART00000124110 | Essential Splice Site | 386 | 515 | 9 | 13 |
Genomic Location (Zv9):
Chromosome 11 (position 37308680)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 36205908 |
| GRCz11 | 11 | 36467891 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GAGAAAATGGAGGGCAAGAAACTTCAGCTGGGCATTGAGGAAGATATCGG[T/C]AACAACACATTTTGACAACGCACCCTTTTAACACCTGTAGGTTCCTCAAC
Long Flanking Sequence:
CGAAGTGCCCTCTAGGAACATAACACATCTATGTCCTCTAAGCCTTGACATTAATTGTCCCGCCCTTCCCCAGAAAGACTGAATATGTGGACATAACCAAAAGATGTGGGCAAAGTCAGCTTGTACTTGCACTCCCTCCAGCAAGAAGACTGTTACCCAGAAATCTTCATGCTGAAATCTTTCTTAAAGTATTAATTCTTTTTAAAAAAATATTTTGACTTCACACTTTTTGAACAGTAATATATGTCCTCACAATCTGATGTAAGTATCTGTAGAGCTGTCAGTGAACATTATTGTATTGTTTTGTTTTTATGTCCAGAGGAGAAGTGCACGTATGAGCTGAGCGCGGTGTTGATTCATCGGGGTGTGAGTGCTTACTCCGGTCACTACATCGCCCACGTGAGAGACGCACACACCAACGACTGGTACAAATTTAACGATGAGGAGATCGAGAAAATGGAGGGCAAGAAACTTCAGCTGGGCATTGAGGAAGATATCGG[T/C]AACAACACATTTTGACAACGCACCCTTTTAACACCTGTAGGTTCCTCAACAGCGGAAGTCATCATAGTTGGGTAAACTTTGAGAGCAGTGAGTGGGGGAGTAACACAAATAGGCATGGGCCGAAACAAGTTTTTTCTGATGGTATAATAACCTTGGATAAAAATAAAAACAACAACTTTTTTCCCTCATTAAAAACAATATATTTTATTTTAGGAAAAATTCTGAGAAATAAACTGCATGACCCAAAAGAAATGCTAATCAAAAGATTTAGATAGATAGTGAAAAAGATATGATATAGAACAAAAATTATCTATTTTATTTGACATTTTTGCGTTTATGAGGAAATATCTTCGCTGTGGATGTGACACCTCTCTGTTATGGATATGACAGATGTGAAATTGACACGTTGTGACTTTCACTTTGTAAAATTAAATCAAAACGCTGACAGCATCATTTTTAACTATTTTACAGTACTGTAAAACACAAGCCTACACAGACAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa27819
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000123591 | Essential Splice Site | 1040 | 1055 | 26 | 27 |
| ENSDART00000124110 | None | None | 515 | None | 13 |
Genomic Location (Zv9):
Chromosome 11 (position 37295544)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 36192772 |
| GRCz11 | 11 | 36454755 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTGTCTCATTTCTGAACATGTTTGACATTATTGTTTGTTTGTTTTTTTCA[G/A]TCTGTATGCCTGAAGAAGGATTTAAAGGTATGTTTAAGCTTAGATAATTT
Long Flanking Sequence:
TGAGTTCTCGAATTTCATAAAAATATATCTTGTGGGTTTGGAGTGACATGATTGTGAATAATCAATTGTTATTTTTTAGTAAACCATCTCTTTTTGATGCTTTAATTTGATGCTCAGAAACCATTTGAAGTATTGTCAGTGTTGAAAACAATTGTGCTGCTTAAAGGGACAGTTCACCCTAAAATTAAAATCATTTACTTACCGCCACTTGTCACAAACCTTTATAAGTTTACCTTTTCTGTTGAACACAAACATTTTGAAAAATGTTAAAACTATTGACTTCCATGTTTCCAACATTTTCAAAATGATTTGATTTTGATGATTATAAAGTTCAGAAAACAGCATTGATTTATTTCTAAACATGTTTTACAGGCTGATGAACCCATTGCTGATTATGCTGCAATGGATGATGTTTATCAAGGTGAGTGCTTTTAACATTAGCTTAAATCACTGTCTCATTTCTGAACATGTTTGACATTATTGTTTGTTTGTTTTTTTCA[G/A]TCTGTATGCCTGAAGAAGGATTTAAAGGTATGTTTAAGCTTAGATAATTTCTTAAATGAAGTCTAACCTTTAAAGGTGCAGTATGTACGTTTGACACCTAGGGGTTGAACTAGGTATTGCATTCCTGGATCAAAACAAACACAAGTTCAGGTTGCCTGATTGACCAACAGGAGCGAGTCTGACAAACGAGCCTAAAGCCTGATTTAAAGCTTGTTCTATATAAAGGCAACAGCACGCGATAGAAGGAATATTTCCATATACGGCTTCTATTTCTTGCAGCTAAACAACAGAAAACTGACAATCACCTCAGGTACACCTCATGTGCTTTATTCAGTGTTAAATGCTAATAATGAGAGTTTAAATGCCATTTTACATGACATTTATTGCCATACTACTGAAAGCAGCAGCAGATAGTTCACCTCAGATCATGAAAAAAATAAACCATTTGAAATTGAAATTTAGTACTGTGAATCATATATCAGTGATTCGGCTTATACATT
Associated Phenotype:
Not determined