ZMP
pdk2
Ensembl ID:
ZFIN ID:
Description:
[Source:RefSeq peptide;Acc:NP_957290]
Human Orthologue:
PDK2
Human Description:
pyruvate dehydrogenase kinase, isozyme 2 [Source:HGNC Symbol;Acc:8810]
Mouse Orthologue:
Pdk2
Mouse Description:
pyruvate dehydrogenase kinase, isoenzyme 2 Gene [Source:MGI Symbol;Acc:MGI:1343087]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa8990 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa8990
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000042189 | Essential Splice Site | 203 | 409 | None | 11 |
| ENSDART00000114739 | Essential Splice Site | 203 | 409 | None | 12 |
The following transcripts of ENSDARG00000059054 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 19 (position 6303678)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 19 | 5762533 |
| GRCz11 | 19 | 5680785 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TACCTTAGCGACAARTGCAGACTCARYGATGATGTCCCGTGTTCTGCTTC[A/T]GATGCCTATGAGAGCGCTAAAATGCTCTGTGAACAGAATTACCTCGGATC
Long Flanking Sequence:
TTAATATTTGTTAAATCTGTTAAAGTGAATGTAGAATATCTTTCGTTTCTGTTATCAATGGCCTCAGTTAATATTTCATTTACACACTTTCTGGTATAAAATTAATGCAATAAAATGTATGCGCTAGTCAGAGATCGGGTCGGTAAAAAAATAAATAAAAGATTTCTGATTTTCATCTCTAATGAGCACTACATGCTTTCTCAGTAAATGCACAGGTCATTAGATCTTGAATAATCCGGCCTGCTCTTGTTCAAGTTAATCATTCACTGGATACGAGAAAATGATTACCTGTAACCCTGTTATTCCTGCTGTATCTCCAGCTCTGATCTTTGATGGCTCCACAAATCCAGGACATCCCAGCAGCATCGGGTGCATTGACTCCTGCTGCGACGTCACAGACGTAATCAGAGGTGAGTGCAATCGAGTGTAATCGAGTATTTATGCAAATATTACCTTAGCGACAAGTGCAGACTCAGCGATGATGTCCCGTGTTCTGCTTC[A/T]GATGCCTATGAGAGCGCTAAAATGCTCTGTGAACAGAATTACCTCGGATCACCTGAGCTGGAGTTGAGAGAGATAAACGGTGAGGAACAGACATGTTCAAATACATCATCACTTATTAAGGGTTCGTTCAGACCAAATGAAAAAACGAACATTATTTAATTGTGTCATTCAAAATCTATTATTAATTTGTTCTTATTTGGAAACGCAAGTGAAGATATGCTTCAAATTAGAGAGGTTTCGGTCCATTGACACACAAAAAAAAACATTCAAAACGTTCATTACAGTTTTTCCCAATTGTTTACACACATTTTCTGAAAGCCTGTCTCATATTGTCAGAACTCTAAATACCAAAAAAGCACACCCACATTGGGCAAAACCCTTCAATTCTTCTGCATAATGAAACCCTACGTTAAAAACAATGTGATTTCTTCTCAAAATGGTGTTTTGTTTTCAAATGACACACACAAACCCTTACATGAATAGACATTTTTAATAACCAT
Associated Phenotype:
Not determined