Busch Lab

ZMP

lias

Ensembl ID:
ENSDARG00000022845
ZFIN ID:
ZDB-GENE-040426-1528
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
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Availability:
Order Allele From ZIRC
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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