ZMP
bbox1
Ensembl ID:
ZFIN ID:
Description:
gamma-butyrobetaine dioxygenase [Source:RefSeq peptide;Acc:NP_001017717]
Human Orthologue:
BBOX1
Human Description:
butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 [Source:HGNC S
Mouse Orthologue:
Bbox1
Mouse Description:
butyrobetaine (gamma), 2-oxoglutarate dioxygenase 1 (gamma-butyrobetaine hydroxylase) Gene [Source:M
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa45283 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa45283
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 |
|---|---|---|---|---|---|
| ENSDART00000052471 | Essential Splice Site | 119 | 325 | 2 | 6 |
| ENSDART00000121805 | Essential Splice Site | 119 | 433 | 1 | 7 |
Genomic Location (Zv9):
Chromosome 7 (position 35642468)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 7 | 34028295 |
| GRCz11 | 7 | 34299445 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCTGGACGTGCACACCGGGATGGATCACGTACAACTGATGGATAATAAG[G/A]TTGGTCTTGGTAAGCTTTATTTTGAAGGGCTCCTATAGACATCCTGTTGA
Long Flanking Sequence:
TAGTTTACGTAACAGTACATTCCACTGCAGTGACTGATCAAATTTGTGGAGGAAAGGTAATGTGAAGGGGCGTGGATGTTGTATGAACGCAATAACCTCACCGTGTGTTTCGTCAAACTAGCAGCAGCTATTCACGGATCAGGATGTTGTCCTATCTTGCTCGCTGGGTGTCCAGAGGTGCTGTCCAGGCTCTAAAAGGAACAAGCAGTCGGCCTCAACTGGTCAAGACACCTCGTATCGGCAATCAGACTTTGGCAGCGGCTCCTCTGCCCTTTGCTGGGGGCAGTCCAGGAGTGAGACAGGCCCGGGCACTGGATCAGGAGAGATTACTGCAGATCGACTGGGATGATGGGAGCTGTAGTTTGTATCCATTCACCTGGTTGAGGGATAACTGCCAGTGTCCGCTCTGTACGCTGCAGTCGGCTCAAGCACGCAGCCTGCTGTTCTCACATCTGGACGTGCACACCGGGATGGATCACGTACAACTGATGGATAATAAG[G/A]TTGGTCTTGGTAAGCTTTATTTTGAAGGGCTCCTATAGACATCCTGTTGACTATATAAAGTACATTTACAACTAACTAACTAACTAACTAACTAACTAACTAACTAACTAACTAACTAACTAATTAACTAACTAACTAACTCTCATTAGAACAAATTTAGAGTTGTAAAGTAAATTGACATGCTTGTTACTTATAGTCAGCGGGATGTCTGTTGGGGATCAGCAAAACAAACAAAGTGCAGACAGTTTGCTACTGTGATGATTGCTGTTTATAATTGTCTAACAGTTCTTAAACTTGTTTTTCCTAAATTCATTGTAGGTGTCCATAACTTGGCCTGATCAGCACAGCAGTGAGTTTGATCCTGACTGGCTGAAGAAACGCTGCTTTTCCTCTGAGGCCAGACAGGCTCTGCAGGAGGAGCTCTTCCTTAATGGTGGGTTCATCATCATATTCTATTTGGCATCATTAGCAAAGTCTTTGTATTATTCATCTATAGTTTT
Associated Phenotype:
Not determined