Busch Lab

ZMP

bckdha

Ensembl ID:
ENSDARG00000040555
ZFIN ID:
ZDB-GENE-050522-376
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 are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa9266 Nonsense Mutation detected in F1 DNA Not yet available
sa36694 Nonsense Mutation detected in F1 DNA Not yet available
sa17364 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa9266
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059347 Nonsense 32 446 1 8
ENSDART00000125820 Nonsense 32 446 1 9
Genomic Location (Zv9):
Chromosome 18 (position 34406338)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 36085494
GRCz11 18 36066502
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTCATGCAATTCGTCAAAACACAGCATTWAAAGCAACAACGCTTCTCCAA[C/T]AAAGGGGATTCCGCGTCAATGTAAGTCTTACGTTTATGGCAGCTGCATAT
Long Flanking Sequence:
ATAACAAACTCTGTTCACTTCCATATTCTCTTAAAACTGGACAACTTCGCTCCAGCTCCATCTCGGTCCTCATGCACAATCTGCTCGTCGCATCCATAAATGGGTCATTGTTTTGAGCGCACAATAATGACGACATGACACATGTTAGCAGTGCACTTACGCCCTCTAACGGAATTAAGGATGTAATGACACATGTATAGCGACTTTATAAGCACGTTTCTGCTTGTTCCTTTTAGTTATACACACTACCGTGACCCCAATCAAATTTAAAATGTACATAAAAGGATACATTTCTCAGACAAAACCGTAAAAATGAGGAGTAACATTTTTCCTGTAGGGGGCGCAGTGTGTTGGATTTCCAGAGACGAGGAGGGAAAAGACGCTAGAGACACGCACTTGACGTAAAGATGGCGGCTGCTAGAGCTGTGAAGAAATTATATGGCATTGGGCTTCATGCAATTCGTCAAAACACAGCATTAAAAGCAACAACGCTTCTCCAA[C/T]AAAGGGGATTCCGCGTCAATGTAAGTCTTACGTTTATGGCAGCTGCATATACGCCACCAACGGACTTTTAACATTAGCAAAACTTGCCATTCAGGTTGTATGAAGTGTGTGTAGCCGTGGGAGACCGAAAACATTTCCTAGAATTGTATGAGACTAATATTAACAACATCTGTATAAAGACGTTTTATGCTAGTTTCAAACATAAAAGCTACTGAACTGTCTTAATAATGTAAATGCTAATGTATAAGTTAGGTGTTCCTCATCTGACCTACAAAAGAAATAGTGCTCAATGTCACATGGTCATGATTGTTTTAAATGCAATAACTAGTGGTCAGATGTCTGAAGATTGTTGTAGGTAACAGTTAATGGATCCTTCAACCTTCACATGTCTGTGGATTTATACTCAGAGCTGATTGGCTAGTTGAAGGGGGCGTGTGGATGAAAAAAACAACACTAATCCTGACTGTTATGGGTCATTAAAAAATCTTTACATTTTACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36694
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000059347 Nonsense 358 446 8 8
ENSDART00000125820 Nonsense 358 446 8 9
Genomic Location (Zv9):
Chromosome 18 (position 34420468)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 36099624
GRCz11 18 36080632
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACGACAGCTCTGCCTACCGTTCAGTGGACGAGGTGAACTACTGGGACAAG[C/T]AGGACCACCCCATCTCTCGCCTGCGCCACTACATGACAGCCCGCGATTGG
Long Flanking Sequence:
TTCAGAAAAGGCACAGCTAAACAGATGTGTTTTCAGTCTTGATTTGAATGTGCCTAATGTTGGAGCACATCTGATCATTTCTGGAAGCTGATTCCAGCAGCGAGGGGCATAGTGGCTGAAAGCTGATTCACCCTGCTTTGACTGAACTCTTGGAACTTCTAGTTTATATGATCCTAAAGATCTGAGTGATCTGTTAGGTTTGTATTCAGTGAGCATATCTGTGATGTATTTAGGTCCTAGGCCATTTAGTGATTTATAGACCAGTAATAATACTTTAACTTACTGTACTTTAATGTACACACATATGCATACTCATTTTTTTATTTATTATCTATCTTATAAGTATGTATATTTTTTTCTCTCCCAACATATAGTAAAATAATTTTATAATAAAATAAGCGAATCCTTTTGCCTCTTCCTTATCCAGGATCGGTCATCACAGCACCAGTGACGACAGCTCTGCCTACCGTTCAGTGGACGAGGTGAACTACTGGGACAAG[C/T]AGGACCACCCCATCTCTCGCCTGCGCCACTACATGACAGCCCGCGATTGGTGGGGAGAGGATGAGGAGCGCGCCTGGAGGAAGCAGTCACGAAAACTCGTCATGGAGGCCTTCGAAAGAGCCGAGAGACGCCTGAAACCCAACCCTGACCTGATGTTCACCGACGTCTACGATGAGATGGTGCCTCACATCGCCAAGCAGAAAGATTCCATGTGGAGACACGTCCAGCAATATAAAGAGCATTACCCACTTGACCACTATGAGAAATAATCCATGAGCCATGGACACAACTGGGAAAGTTCTTGCACATGTCAGATTGTCTGAATTCTTCCTTTTGTTTCCATTTTACACTTTTGTTGGTTGCATTAGAAAGCACAAAAATAATGGTAATGTTGTTCTCCATATTTGCCACTAGAGGCCTCTGTGCTGTCATTTTGTGCCTTGGAAAATGGTGGAAGTGGAGCAGTGCTGGAAATATGTTGAAGATCTTCTACACAGGCC
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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