ZMP
bckdha
Ensembl ID:
ZFIN ID:
Description:
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial [Source:RefSeq peptide;Acc:NP_001019590
Human Orthologue:
BCKDHA
Human Description:
branched chain keto acid dehydrogenase E1, alpha polypeptide [Source:HGNC Symbol;Acc:986]
Mouse Orthologue:
Bckdha
Mouse Description:
branched chain ketoacid dehydrogenase E1, alpha polypeptide Gene [Source:MGI Symbol;Acc:MGI:107701]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17364 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa17364
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 > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000059347 | Nonsense | 444 | 446 | 8 | 8 |
| ENSDART00000125820 | Nonsense | 444 | 446 | 8 | 9 |
Genomic Location (Zv9):
Chromosome 18 (position 34420728)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 18 | 36099884 |
| GRCz11 | 18 | 36080892 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
ATGTGGAGACACGTCCAGCAATATAAAGAGCATTACCCAMTTGACCACTA[T/A]GAGAAATAATCCATGAGCCATGGACACAACTGGGAAAGKTCTTGCACATR
Long Flanking Sequence:
CCAGTAATAATACTTTAACTTACTGTACTTTAATGTACACACATATGCATACTCATTTTTTTATTTATTATCTATCTTATAAGTATGTATATTTTTTTCTCTCCCAACATATAGTAAAATAATTTTATAATAAAATAAGCGAATCCTTTTGCCTCTTCCTTATCCAGGATCGGTCATCACAGCACCAGTGACGACAGCTCTGCCTACCGTTCAGTGGACGAGGTGAACTACTGGGACAAGCAGGACCACCCCATCTCTCGCCTGCGCCACTACATGACAGCCCGCGATTGGTGGGGAGAGGATGAGGAGCGCGCCTGGAGGAAGCAGTCACGAAAACTCGTCATGGAGGCCTTCGAAAGAGCCGAGAGACGCCTGAAACCCAACCCTGACCTGATGTTCACCGACGTCTACGATGAGATGGTGCCTCACATCGCCAAGCAGAAAGATTCCATGTGGAGACACGTCCAGCAATATAAAGAGCATTACCCACTTGACCACTA[T/A]GAGAAATAATCCATGAGCCATGGACACAACTGGGAAAGTTCTTGCACATGTCAGATTGTCTGAATTCTTCCTTTTGTTTCCATTTTACACTTTTGTTGGTTGCATTAGAAAGCACAAAAATAATGGTAATGTTGTTCTCCATATTTGCCACTAGAGGCCTCTGTGCTGTCATTTTGTGCCTTGGAAAATGGTGGAAGTGGAGCAGTGCTGGAAATATGTTGAAGATCTTCTACACAGGCCTGATGTAGCAAATAATCCTGTCATCAATACAGTATCCATTTATCAACATGGTGTTATCAATCAATTGACCATTGTTTATTCATTTTAAGGGATAGTTCACCAAAAATTTTAAATTTCCTGACAATTTATCCACACTCAAGCGGTTCTGTTAAACACAAAACAAGATATTCTGAATAATGTTGCAAAAAAGCAGACATTGACATCCATAGTGGGAACAAAAAAAAAATACTATTGAAGTCAATGGCCTTTTCCAGCATTCT
Associated Phenotype:
Not determined