ZMP
lias
Ensembl ID:
ZFIN ID:
Description:
Lipoyl synthase, mitochondrial [Source:UniProtKB/Swiss-Prot;Acc:Q6PHG4]
Human Orthologue:
LIAS
Human Description:
lipoic acid synthetase [Source:HGNC Symbol;Acc:16429]
Mouse Orthologue:
Lias
Mouse Description:
lipoic acid synthetase Gene [Source:MGI Symbol;Acc:MGI:1934604]
Alleles
There is 1 allele of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa16805 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa16805
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000036448 | Essential Splice Site | 152 | 397 | 5 | 11 |
The following transcripts of ENSDARG00000022845 do not overlap with this mutation:
Genomic Location (Zv9):
Chromosome 1 (position 22051864)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 1 | 22587031 |
| GRCz11 | 1 | 23277770 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AATGGAGAACTGTGATCTGTAAACTCCTGCTGTCTCATTYTCTCTCCATA[G/A]TTAATGGGGGACACATGCACACGTGGCTGTAGGTTTTGTTCAGTTAAGAC
Long Flanking Sequence:
TAATTAACAGTGTGGTAAATAGGATTAATGTTATTTCTCTCTTAACTCAAAATCTTTACAGAGAAAAATTATTACCATTCACTTTTAGTGTGCATAATTATGGGATTATTATAAGGACATTCTTGTATAATTAACCTCTTTCATGTTGCACAGCAAAAAATAAAACATTAGGAAAGGATGAAAAAAGTTTAATTGGGGGTTAAATAGTTCCATTAATGAAAAATAAAAGCCGCTTTTGTTCCTAGTAGTACATGAATTCTTGACTATTCTAATGGTTCCAGGTCTGCGAAGAAGCCCGTTGTCCAAATATTGGTGAATGTTGGGGTGGAGGAGAGTACGCCACGGCCACAGCCACCATTATGGTGAGTGTGCTGGTTCTGTAAAACACCCGTACAATAACAAAATCTTATGATAATGCTCTCTTTCCAGTAGAACCTTAGCTGATTCTCTAATGGAGAACTGTGATCTGTAAACTCCTGCTGTCTCATTCTCTCTCCATA[G/A]TTAATGGGGGACACATGCACACGTGGCTGTAGGTTTTGTTCAGTTAAGACAGCGAGACGTCCTCCACCTCTTGACCCCGATGAGCCATATAACACCGCTAAAGCCATTGCAGCATGGGGTCTGGACTATGTAGTACTCACATCAGTGGACCGAGATGGTGAGGAAATGTAACTCTCCACTGACAAACACTAAAGCAGGTCGCACTCGCACACTGGATGTGCCGCAACATGGCGCGCACATAACCGTTGAAAGTATCACAGACCAAACGCGCACATTCGCATGTTATTTAAAATTAAACTATTCAGATGGCGCTATGTGGCGTGGCAGAAATATGAACTGTATCATGAGTCGTGGCTGGGCGTTTAGAATTTTAAAATGCATGACACTGCGTGGCGCGTCACTGAGCGGTGCATTTAATGTGCGACCCCCTTAAGAAGTGTGTTTTACAAAAGGCATATTAAAGTGTTTGAAGAGAATCATTCATTTATCAGCAAATACAG
Associated Phenotype:
Not determined