ZMP
klhl8
Ensembl ID:
ZFIN IDs:
Description:
kelch-like protein 8 [Source:RefSeq peptide;Acc:NP_001103950]
Human Orthologue:
KLHL8
Human Description:
kelch-like 8 (Drosophila) [Source:HGNC Symbol;Acc:18644]
Mouse Orthologue:
Klhl8
Mouse Description:
kelch-like 8 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:2179430]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa17652 | Nonsense | Available for shipment | Available now |
| sa7244 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa17652
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000027066 | Nonsense | 330 | 604 | 5 | 11 |
| ENSDART00000128089 | Nonsense | 330 | 604 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 114845)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 33578 |
| GRCz11 | 21 | 172966 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GGAGACCCGTTCCGCAGCATCGAGTGCTACTCCATCAGTAAGAACAGCTG[G/A]TTCTTCGGGCCGGAAATGAACAGCAGGCGCAGGCATGTGGGAGTCATTTC
Long Flanking Sequence:
GCCAGTCTGAGCTGCAGAGACCTGCTGGATGAGGCCCGCAACTACCACCTGCACCTGAGCAACAAGAGCGTACCTGACTTCCAGTACTCCGTGCGCACGACGGCCCGCAAACACACTGCAGGTCAGGACTGCACCTATTCCATCTGTCTCACCGTTTCACCTGTCTCACCTGTTCCTTTTCTCGTCTGTCTCATTCACCTGTTCACATGTCCACTTGTCCACCTGTTCCATGTCTCATTCACCTGTTCACATGTCCACTTGTCCACCTGTTCCATGTCTCATCCACCTGTTCACATGTCCACTTGTCTACCTGTTTGCCTGACTCACCTGTTTCACCTGTTCCCCTGTTTGACTTGTTCATGTTTCACTTGTTCACCTGTCTCACCTGTCCTCTACTGTGCCGCCTCCTCCACAGGTGTGCTGTTCTGCGTAGGGGGTCGGGGCGGTTCCGGAGACCCGTTCCGCAGCATCGAGTGCTACTCCATCAGTAAGAACAGCTG[G/A]TTCTTCGGGCCGGAAATGAACAGCAGGCGCAGGCATGTGGGAGTCATTTCAGTGGCAGGTGAGGAAGAGGAGGCGGGCAGGTGAACCACGACCACAGACCCCAACACTGCAGTGCAGGCGCGGCTCATCCAAGGACTAGGGCTAGTGTAGCACCGAGGTTTAGGGTTAGCATAACACTGAGTGAATGAGTGAATCAGTGACCGAGTGAATCAGTGAATGAGTGAATCAGTGACCGAGTGAATCAGTGAATGAGTGAATCAGTGACCGAGTGAATCAGTGCTCTGCCTGTGGTGTGTGCGCAGGGAAGGTGTACGCGGTCGGTGGCCATGATGGAAACGAGCACCTGGGCAGCATGGAGATGTTTGATCCACACACTAACAAGTGGATGATGAGGGCGTCCATGAACACCAAACGGTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGCGTGCGTGCGTGCGTGTGTGTGCGTGCGTGTGTGTGTGTTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa7244
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 |
|---|---|---|---|---|---|
| ENSDART00000027066 | Essential Splice Site | 350 | 604 | 5 | 11 |
| ENSDART00000128089 | Essential Splice Site | 350 | 604 | 4 | 10 |
Genomic Location (Zv9):
Chromosome 21 (position 114785)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 33638 |
| GRCz11 | 21 | 173026 |
KASP Assay ID:
554-4959.1 (used for ordering genotyping assays)
KASP Sequence:
CCGGAAATGAACAGCAGGCGCAGGCATGTGGGAGTCATTTCAGTGGCAGG[T/G]GAGGAAGAGRAGGYGGGCAGGTGAACCAYGACYACAGACCCCAACACTGC
Long Flanking Sequence:
AACAAGAGCGTACCTGACTTCCAGTACTCCGTGCGCACGACGGCCCGCAAACACACTGCAGGTCAGGACTGCACCTATTCCATCTGTCTCACCGTTTCACCTGTCTCACCTGTTCCTTTTCTCGTCTGTCTCATTCACCTGTTCACATGTCCACTTGTCCACCTGTTCCATGTCTCATTCACCTGTTCACATGTCCACTTGTCCACCTGTTCCATGTCTCATCCACCTGTTCACATGTCCACTTGTCTACCTGTTTGCCTGACTCACCTGTTTCACCTGTTCCCCTGTTTGACTTGTTCATGTTTCACTTGTTCACCTGTCTCACCTGTCCTCTACTGTGCCGCCTCCTCCACAGGTGTGCTGTTCTGCGTAGGGGGTCGGGGCGGTTCCGGAGACCCGTTCCGCAGCATCGAGTGCTACTCCATCAGTAAGAACAGCTGGTTCTTCGGGCCGGAAATGAACAGCAGGCGCAGGCATGTGGGAGTCATTTCAGTGGCAGG[T/G]GAGGAAGAGGAGGCGGGCAGGTGAACCACGACCACAGACCCCAACACTGCAGTGCAGGCGCGGCTCATCCAAGGACTAGGGCTAGTGTAGCACCGAGGTTTAGGGTTAGCATAACACTGAGTGAATGAGTGAATCAGTGACCGAGTGAATCAGTGAATGAGTGAATCAGTGACCGAGTGAATCAGTGAATGAGTGAATCAGTGACCGAGTGAATCAGTGCTCTGCCTGTGGTGTGTGCGCAGGGAAGGTGTACGCGGTCGGTGGCCATGATGGAAACGAGCACCTGGGCAGCATGGAGATGTTTGATCCACACACTAACAAGTGGATGATGAGGGCGTCCATGAACACCAAACGGTACTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGCGTGCGTGCGTGCGTGCGTGTGTGTGCGTGCGTGTGTGTGTGTTATGCTGCTGATCTGAAAAGCAGAATGTGTGTGTGTCTGCAGGAGAGGTATTGCGTTGGCAGC
Associated Phenotype:
Not determined