ZMP
ugt5b2
Ensembl ID:
Description:
UDP glucuronosyltransferase 5 family, polypeptide B2 [Source:RefSeq peptide;Acc:NP_001170970]
Human Orthologue:
UGT8
Human Description:
UDP glycosyltransferase 8 [Source:HGNC Symbol;Acc:12555]
Mouse Orthologue:
Ugt8a
Mouse Description:
UDP galactosyltransferase 8A Gene [Source:MGI Symbol;Acc:MGI:109522]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa32596 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39552 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa32596
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016750 | None | None | 532 | None | 2 |
| ENSDART00000123773 | Essential Splice Site | None | 531 | None | 3 |
| ENSDART00000126877 | Essential Splice Site | None | 531 | None | 2 |
| ENSDART00000127735 | Essential Splice Site | None | 531 | None | 2 |
The following genes are also affected by this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 8728583)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 8968388 |
| GRCz11 | 1 | 9652499 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTTGTTTGGACGTTGTCGAAGTTTTTATTGGGATATTTCCCATCTCTGG[T/G]GAGTTGTTGTATCGCATGTCGTATTTTTATGCCTATATAAGAGCAATGGG
Long Flanking Sequence:
TTAGCACATGTATGATTAGTAGGTGTGCCAGACTCTCCCTTAAAATAATCTCATTGAATATGAACTTGCATGAACCAACACGAATGGAGCTGTTCAAATTTGTTTGTTCTTCACATGCAGAGACGTTGTTCACGTTAAGTCTGATTCACAGCTCTGATAAATGCATGTATTCTGCAGTATTTCAGATCTCTAGACAATAATAAATTTGAGTATTTTCAGTCCCTCCCATAACCTTTTATGTAACCAGAACCATATCCTGTAAAACTGTCATGTAAACTCAAACACAACAGGGGGGAGGCGCCCCGCGGCTCTTTCAGTAAAAACAGGAAATTTTTTGGGTTACCGGACGAAGAACAAAAAACGTAACGCGATGTTCTTTGATATGAGAAGAAAACCTTTAAATAGTCTGTAGTTTGGTTCACTCAGTAAAATAAAACCCGGGCAGCACGGAGTTGTTTGGACGTTGTCGAAGTTTTTATTGGGATATTTCCCATCTCTGG[T/G]GAGTTGTTGTATCGCATGTCGTATTTTTATGCCTATATAAGAGCAATGGGACTTTGAATAGTGGCTTATAATCTAAATATATTATGTTCTTTTCAAATCAGTGTTTTATGCTTGTCTTGGGTCTTGCAAGGTGTTAATATTTCTTTAAAGTGCGCCGCTTTGGGGTTTAGCTTGCTAACGCATCGATGTTTTTGAATGAATCTTTGTATTGACCGAATCGTTAATCTCGCGCTCTTTTGTTCGCCTTCGGCTTTTTTTCTGCTTTCCAGTAATACTTCCCGCGAATATTACATTAACTGTTTTGTTCAGCACTGCCTGGAGCGCTTTATGCTGCGTTATAATCGCATCTATTCACCCTATGTAGTAGCCTATGGAAGTCTAAACTAAATTTGAATACTATTTAGGGGTGGAGCATGTAACTGTCTTTAGGAACACTCCCACTGAACGATTCTGTCCTGAACAAAGATTAATGAACGAAGGTCACGTTATTAGTTTGTGAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39552
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:
T > G
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000016750 | Nonsense | 491 | 532 | 2 | 2 |
| ENSDART00000123773 | None | None | 531 | None | 3 |
| ENSDART00000126877 | None | None | 531 | None | 2 |
| ENSDART00000127735 | Nonsense | 490 | 531 | 2 | 2 |
Genomic Location (Zv9):
Chromosome 1 (position 8719239)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 8959044 |
| GRCz11 | 1 | 9643155 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTGCCGCTCACTTGCGCACAGAGTCGTACAAAATGCCCTGGTACTCTTA[T/G]CACTCTGTTGATGTTATTCTGGTGCTGATTTCTGCTGTGTCACTCATAAT
Long Flanking Sequence:
GAGGCAATTGCTGAAGCCTTTGCAGAACTTCCACAGAAGATCATCTGGAGGTACAAAGGAAAGAGACCGTCTGCACTAGGAAACAACACTTTAATAATGGACTGGATGCCTCAGAATGATCTTCTGGGTCATCCCAAGACCAGAGCCTTTGTTGCACATGGAGGAACTAATGGAATTCAAGAAGCCATCTACCACGGGGTGCCAATCATTGGATTTGGCCTGATTTTTGACCAACCAGACAATCTTTCTAAAATGAGAGTGAGAGGTGCAGCCAAGAATGTAGACTTTGCCACAATGAATAAGGAGTCTTTCCTTACAACAGTCAAAGAGGTACTCTATGATCCCTCTTATCGGGAGAACATGCAGAGACTCTCAAGGCTTCACAAGGATGTTCCAGTGAAGCCTCTGGACAACGCCATCTTCTGGATTGAGTTTGTTATGAGACACAAAGGTGCCGCTCACTTGCGCACAGAGTCGTACAAAATGCCCTGGTACTCTTA[T/G]CACTCTGTTGATGTTATTCTGGTGCTGATTTCTGCTGTGTCACTCATAATCTTGAGCATATATGCAGTTATCAGATATTTCTGCTGCAGGATATGCATGAGAAAAACAAAAATCAAACATGAATGACTTGGCCTTTTGAAAATTGTGTTCAGGTATAAAGCAAATTCAGGTCAGGCATTGCCTGTATGTTAATGACTAAATCTTTCAATCAATAATCTATTCATTTAATTTGGTGATCTGAAGGTTTTCAGTTCTGTAAAGATAAATCTGTATTTGCAATATAAATAATGTCAGATCTATCACCATAAACTTGTGTGCTTTTATTATTTATTTTTTTGTCTATTCCTTTTATCGTGTTACCATACCTTCCCTACAGTTTGCATTCTTGATTGTTAGTGTTTTTGTGTGTGACCTAAAGCTGTGCTACTATATTAATCTATTACTATTAGGTTGACTCAGAAAACAATCATATGTGAACAGGATCTTAACACCATAACCTG
Associated Phenotype:
Not determined