ZMP
hacl1
Ensembl ID:
ZFIN ID:
Description:
2-hydroxyacyl-CoA lyase 1 [Source:RefSeq peptide;Acc:NP_998250]
Human Orthologue:
HACL1
Human Description:
2-hydroxyacyl-CoA lyase 1 [Source:HGNC Symbol;Acc:17856]
Mouse Orthologue:
Hacl1
Mouse Description:
2-hydroxyacyl-CoA lyase 1 Gene [Source:MGI Symbol;Acc:MGI:1929657]
Alleles
There are 3 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa5889 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa39097 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa5889
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:
T > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004031 | Essential Splice Site | 293 | 568 | 10 | 17 |
The following transcripts of ENSDARG00000020529 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 22266298)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 20372741 |
| GRCz11 | 16 | 20178560 |
KASP Assay ID:
554-3910.1 (used for ordering genotyping assays)
KASP Sequence:
ACACTTTGGCTTTCCACCCAGATTCAGTGCCAATGTAAAGATCATTCAGG[T/G]TAGTTAGAACCTTAACRCTGAGGAAGTTGCTGCAGCATCWCTGTAATGTT
Long Flanking Sequence:
TGGAGTAGTGTTTGGAAGTTAAGTAGTTTTAACTTTAAAGCTGTAGCAGATGTAGAAATGTTAGCCTCAAAATAATAATTATAAGCAATATTTAAACAACATGTGTGAGCATTTTTGAAGCTTTTGTGAGCATCAATTAAAGCTGACGGCTAAATGAAAAATGTCAAACATCTGTTCCAGGTGCTGCGTATGCCAGGGCAGAGGAGGTGGTCAGGGAACTGGTGGAGGTCACTGGGATACCCTTTCTTCCCACACCAATGGGGAAAGGAGTCCTGCCAGATGACCATCCCAACTGTGTTGCTGCAGCCAGATCCAGGTGTGTTTGCGCTTGTGTAATTAGTGCCAAATCTCTTATTGATTGATGTGACAGCATAATGCACATCTCTCTCTCAGAGCTCTGTTGCAGGCTGACGTTATAGTGCTGCTGGGTGCCAGACTTAATTGGATCCTACACTTTGGCTTTCCACCCAGATTCAGTGCCAATGTAAAGATCATTCAGG[T/G]TAGTTAGAACCTTAACACTGAGGAAGTTGCTGCAGCATCTCTGTAATGTTCGTTTACCTCGTCCATCACACTCATGGTGCATTGCGATGTTCTTTAGGTGGATCTGTGTGCTGAAGAGTTGAGTAATAACGTGAGAGCTGCATCTGCTCTACTTGGAGACATAAAGATGGTGACCAGCCAGGTAAACTACAGTGTCACCTTGATCATTTTACATAAAATATGGAGTCCATATGCATACTTATACTTTCGTCCACCATGGCATCGCATTTACAGCTAAACGTAAACAGCAAAAGCCATTGCTAATTCAAAAATGTTACTTCAGAACTAGTATTTTAATTTATACTATGATATCACACTCACTGTAAGAACAGGAGAAAACATGACCCGAGAAAGACTCCGGTTTCAGTTGAGTTTTTTTTTTTTTTTTTCAATTTTAGTTCCAATGTTACTTTTAACCAAATTTCTGTAAACTTTAGCATTAAAAAAAAGAGTTTCGTGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa39097
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:
T > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000004031 | Nonsense | 399 | 568 | 13 | 17 |
The following transcripts of ENSDARG00000020529 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 16 (position 22271445)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 16 | 20377888 |
| GRCz11 | 16 | 20183707 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCATAGTGAGTGAGGGAGCAAACACTATGGACATCGGCCGCACCATGT[T/A]GCTCAATCACCTCCCTCGGCACAGGTGAGAGACACTATTGGCAGCTTACA
Long Flanking Sequence:
TATCTTCTTTTTGTATAAAAATAAATATTTCCTTTACAATTTTGCAGAACTCCAAATCATTTGGTTATGTATATAACGGCAATTGTATGTTAAAATATATGAATAGCTGAAAGTCAATTTTTTTTTCATGAAATAACCTATTAAATCTTCTTTTCTACATTATTTAAAGCTGTTGGAGACTGTAAGATCAGAGTCTTGGAGATTTCCATCTGATTCACAGTGGTGGGCGACACTAAGGGAGAAAATTACTGCCAATGCTCAGATAACAAAGGTGAGCTTTATGTATTTTTATTTAATAAACAAATACATTCTTTTTGAATATACAGGTACACTCACATTTATGTTGTTAAGTAAACTGTTTGTTTCCCAGGCTCTTTCTTTGCAGACGACTCTGCCTATGAACTACTACACTGCATTTCACCACATTTCGGAGCTCCTTCCTAAAGACTGCATCATAGTGAGTGAGGGAGCAAACACTATGGACATCGGCCGCACCATGT[T/A]GCTCAATCACCTCCCTCGGCACAGGTGAGAGACACTATTGGCAGCTTACAAATACATTATACTCTTTTCATACGAAGAACTGAAAACTAGTTATTTGGTACTATGAATCCTTCTTCATAAGTTAAATATTTTGAAACATGCACAATCAAAGGAGTAGAAAAGATCCTGATTGTGATGAAAACTGATATTTATATTTAGCTATGGTTTGTGGCTAGTGAAAGAGATGGGGCTATGTTTTTAATGTTGTGGGTACAAGAAAGCAATTGTGCCTATATTTATATATAAAATTGTGCCTATATATATATATATATATATATATATATAAAACAGTTTTGCAAACACGTTTTATACTATTTCAAATATATATTTTTTGTAAATGCTGTATAAATGCACATATATTGTTAACCCGTAGTGTTTACATGGTCATAATACAGCAAACATTTTGTTTACTTCACAATGCCTTTGATGCGTGAACATTGGCAATTGGTGGAGTGTCTTTT
Associated Phenotype:
Not determined