Busch Lab

ZMP

klhl18

Ensembl ID:
ENSDARG00000004306
ZFIN ID:
ZDB-GENE-030131-5785
Description:
kelch-like protein 18 [Source:RefSeq peptide;Acc:NP_956124]
Human Orthologue:
KLHL18
Human Description:
kelch-like 18 (Drosophila) [Source:HGNC Symbol;Acc:29120]
Mouse Orthologue:
Klhl18
Mouse Description:
kelch-like 18 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:2143315]

Alleles

There is 1 allele of this gene:

Allele Name Consequence Status Availability
sa32954 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa32954
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022909 Essential Splice Site 202 576 4 10
ENSDART00000122609 Essential Splice Site 202 577 4 10
Genomic Location (Zv9):
Chromosome 2 (position 32467931)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 32766838
GRCz11 2 32750056
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCTTGAGCTGGTGGGCTGCGACGAGCTCAACGTCCAAGCAGAAGAGCAG[G/A]TCAGAGTCTTTGGACAAATTTAACATGGTCCAACACATCGTGATGAGACA
Long Flanking Sequence:
CATCACTGGGAAACATCCATACACACTCATTTACACACATACACTACAGACAATTTAGCCTACCCAATTCACCTGTACCGCATGCCTTTGGACTTGTGGGGGAAACCAGAGCATCTGGAGGAAACCCACGTGAACACGGGGAGAACTATCATAGTCGCTTAAAATTTTGAAGTCTTGAAATCAGCTTCACAGCGGACACATTTAAATTGTAGTTTATCCATGTTAGTTGTGCAAAATTCTCGTTTTGTGATCAAGAGTCACTTTTTTACAGAGCATTTATTGATGTGCTGCTGATTTGCAGGTTGCATCCCAAGAATTGTCTCGGTGTGCGGCAGTTTGCTGAGACTATGATGTGTACCACACTATACGATGCAGCCAACAGCTTCGTTCACCAGCACTTTGTGGAGGTGTCTGTGTCTGAGGAGTTTCTGGCCCTTCGGCCGGAGGAGGTGCTTGAGCTGGTGGGCTGCGACGAGCTCAACGTCCAAGCAGAAGAGCAG[G/A]TCAGAGTCTTTGGACAAATTTAACATGGTCCAACACATCGTGATGAGACACACAGAGGGGCAAATGAACAAACAGAATGTCGCTAAATGAATGGATTTTGAACACATAATTTGGACCCTTTTCACAAGCCTGCTATGACACTTTTACAGCTCATCAGCATCCTAAATCCCTAAAGTTTTTAAATATTTAGATAAAAAAAAAACATGAACATATGTATTTATGTGTGAAGTATATCATCTCCGCTTCAAATTACAATAAACAAATTACCGCTTGTGCGAGGCGTTTCTAATGCAGCGTCTATGGGACGGACAGTAAATTTGACGTTGTTTCCTCTGGCTACCGTCATCAGTCTCACATGATTTCTTTCCTTCATCGTGGAGTTTTTCTTTTGTTATTTGAGCAAATAAGATTGTAAAAAAATAATTATTGTATTCTCCCGTTCACTGTGCCCTAAGTTTTCCCAACTATGACGACTTCTGCTGCTGAGAAACCCGAAAATG
Associated Phenotype:
Not determined