ZMP
pdhb
Ensembl ID:
ZFIN ID:
Description:
pyruvate dehydrogenase E1 component subunit beta, mitochondrial [Source:RefSeq peptide;Acc:NP_99831
Human Orthologue:
PDHB
Human Description:
pyruvate dehydrogenase (lipoamide) beta [Source:HGNC Symbol;Acc:8808]
Mouse Orthologue:
Pdhb
Mouse Description:
pyruvate dehydrogenase (lipoamide) beta Gene [Source:MGI Symbol;Acc:MGI:1915513]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa3153 | Nonsense | F2 line generated | Not yet available |
| sa12405 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa3153
Status:
F2 line generated
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000006513 | Nonsense | 67 | 359 | 3 | 10 |
| ENSDART00000132641 | Nonsense | 67 | 203 | 3 | 6 |
Genomic Location (Zv9):
Chromosome 22 (position 10315907)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 10176075 |
| GRCz11 | 22 | 10205757 |
KASP Assay ID:
554-2546.1 (used for ordering genotyping assays)
KASP Sequence:
GAACGGGTCTTCCTGCTCGGAGAGGAAGTYGCACAGTATGACGGCGCATA[C/A]AAGGTCAGATAGACACATTTATTCAAACANTTTTTCTGATTAATGACATTT
Long Flanking Sequence:
TTTTTATTTATTTATTTTTGGTTTCAGTAAAAAAAATCTTTCTCTTTAACCCCATATATATGTTCTGTTCTAACATATTAAAGTATATTCAGATTTAAGGGTTATCTTGATTTTTATACTGTTTATTGTTAACAGTTTGGCAGTTGTATAATGGTTTTATACAAGTTTAACTATGGTATTGCCATGTTGTTACCATGTGTTTTTTTTTTTTTTACATATATTACAGTGTTATCATGCTTGCTCTGCAGTACCTTTTAATACCATGTAAATCTCATAGTATTAGAATACACATATTCACATTTTTAACATTAAAGTATTAAATGAGGCATGTATAATACTAAATTTTTTTAGTTGTCAGGCAATCTGTATTGATAAATATGCTCTGGGTTGTTGCAGGTGACGGTTCGAGATGCCCTTAACCAGGCCATGGACGAGGAGCTGGAGAGAGACGAACGGGTCTTCCTGCTCGGAGAGGAAGTCGCACAGTATGACGGCGCATA[C/A]AAGGTCAGATAGACACATTTATTCAAACATTTTTCTGATTAATGACATTTTAAACATGTTTTTTGTAATTTGCTTGTATTGGGTTGCAGGTCAGCAGAGGCCTGTGGAAAAAATACGGAGACAAACGTATCATTGACACCCCCATTACAGAAGTGAGAACTGAAATATGCGAAAGCAACAGTTTTTGTCTATTCTATTGTTTTTTCTTGCAACTGTCAGGTTAAGGATCCGTGGCTTTTTGGATTTTCTTACAGTGTGTTTTCAGTTTGATGTAATGAAAACATCCAAAATATTTTTTTTCATACATTATAATTCTGTATTTGTAGATTTAAATGACTGTAAGCATTAAGACCTTTTTCTTCAAATGAGATCTAAATCTCCTCTTCACCAGCACCAACTTTTTTATTTATTAGCTTTTATTATTATTATTTAATTTGTTAAATGTTGAATTTTATAAAAAACTGAGTATTTAAAAGAGATTCCCAAAATCCCTTCTGTAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa12405
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000006513 | Essential Splice Site | 234 | 359 | 8 | 10 |
| ENSDART00000132641 | None | None | 203 | None | 6 |
Genomic Location (Zv9):
Chromosome 22 (position 10320601)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 22 | 10180769 |
| GRCz11 | 22 | 10210451 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTTGAACTGAATCGTTGTGTGTGNNTATATTAATATTGGTGTTCTGATGT[A/T]GGAAATCACATCACAYTGGTGTCTCACTCCCGAATGGTCGGTCTGTGTCT
Long Flanking Sequence:
GTAACGCAAGTTCAAAACCTGGGGGAAAGATTATACATAAAATTAGGCATGCGCCCAAAATAAAATTTTAGGCTTAAACCAAAAATTCTAGAAGCATTGACCCAACCCAAAGCTGCTTTGTAATAATCAGTTGTTTTTTATGAAATATTAGATTTTTTTAAGACTTAAAATAAAATTGTATTCAATAATTTAAACTTATGCTAATTTAAAAAAAAACCCGAGCCAATAAAATAGCCATATATTTTACCAGTGTTCCCATGACAGCACAGTATTTCTATTGCAAGCAGCAGGAGCTAGTATACTACAGAACATAGGACATCCCTGCATTTGAGTTGATGGACATGCATGACATGAGGGGAATATTTTATAAAACATAAATAATTTCTTAATATTTTTTCCTTGATTATTTGTATGTCAGTTATTGCCAGCCATTATGTGTTTAGTGTTATTGTGTTGAACTGAATCGTTGTGTGTGTATATTAATATTGGTGTTCTGATGT[A/T]GGAAATCACATCACATTGGTGTCTCACTCCCGAATGGTCGGTCTGTGTCTCGATGCTGCTGCTGTTTTGGCCAAGGAGGGCATTGAATGTGAGGTATGAAAAAATGTATAATATTTTGTACAAAAAGATAATATTCAAAACAAACTTAAAAAAACACATTTGCTCAAAAGCAAATTAATATCACATATAATGTTAATTCATTTGTACTTATTATTGACCTAGATTCAAAAGTTGAACAAACCAGTTTGTATTTTGAATGAGTTGCATTTTAGACTAAATATTGTCGGCTTTTTCCATTTTGCCAACAAAAATATTTCCAAAATCTGTAACATTCTTTTCTGAATGAATATGTTTTTGGATGAAGTTGAGTTAAGGATTTAATGATTTACTAAATGCAGTTATTTGCTTTGTTTATAAATAAATCAGCCGTGTTGAACAAATCGTTTGAATAAATGATTTAGTTATAACAGCAACTTGTCGCCACCTACTGGCTGTTTATT
Associated Phenotype:
Not determined