ZMP
kbtbd8
Ensembl ID:
ZFIN ID:
Description:
Kelch repeat and BTB domain-containing protein 8 [Source:UniProtKB/Swiss-Prot;Acc:Q08CL3]
Human Orthologue:
KBTBD8
Human Description:
kelch repeat and BTB (POZ) domain containing 8 [Source:HGNC Symbol;Acc:30691]
Mouse Orthologue:
Kbtbd8
Mouse Description:
kelch repeat and BTB (POZ) domain containing 8 Gene [Source:MGI Symbol;Acc:MGI:2661430]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa6201 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa6201
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000104072 | Essential Splice Site | 447 | 601 | 3 | 4 |
Genomic Location (Zv9):
Chromosome 11 (position 16966803)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 11 | 16447503 |
| GRCz11 | 11 | 16582138 |
KASP Assay ID:
554-4823.1 (used for ordering genotyping assays)
KASP Sequence:
GGAGTTTCACAGCACAATAGAGTATAAGGACCGCATCTATGTGCTGCAAG[G/A]TGAGTGGGGTTATTGCAGAGTCACCTAAAATCAGGCTGTACAAATGCATA
Long Flanking Sequence:
TATGACTGCATCTGAGATGATCATCTGCTTCGATGCTGCTCACAAGCATTCAGGGAAGAAGCAGACCGTGCCTTGCCTGGACATTGCCGCCGGGAAGGTGTACAAGCTGTGCAAGCCGCCCAATGACCTCCGAGAGGTTGGCATTTTGATTTCGTCAGAAAATGACATCTTCATTGCTGGAGGCTATCGGCCGAGCAATAGTGAGGTGTGCATTGATCACCGTGCAGAAAGCGACTTTTGGCAGTATGAACACGCTGGTAATAGGTGGCTTCCAAGGTCGCCCATGCTACGGGCACGCATCGGCTGCCGACTAGTGCACTGCTGTGGGAAACTTTACGCTCTGGGTGGTCGAGTGTATGAGGGGGATGGACGTAATGCATTAAAGTCCGTGGAGTGCTATGATGCCAGAGACAACTGCTGGACAGCGGTCAGCCCCATGCCGGTGGCCATGGAGTTTCACAGCACAATAGAGTATAAGGACCGCATCTATGTGCTGCAAG[G/A]TGAGTGGGGTTATTGCAGAGTCACCTAAAATCAGGCTGTACAAATGCATATATCCTTGTAATTCATTTGCCTGTCGTGTCTTTTAGCTTTGCTCAGATGATAAGGTCAGGCAGGTTAACCTCTCTCAGCAAAATCAGCAGTAAAGAGCTAGAGTAGCACTTACTCTTAGGGATGTGCTGATATTTTAACCGCTGAAAGTTTGCAACAGAAAATGTCATAGAATGCTTGTTTGGAAAGGAATATGTAAACAGCAACTTATGTTTCCCCCCCAAAAAAAACTTTTTCAATATTTTTTATTTTTTTTTTGCAAGTTCTGATAATGTGGTGCTTTGTGATATTTGGAATTATGAATTAAAAATTTTATTTAGAAATCAGCATTACACACTGAAACAAGCACAGTGCTTTCACAAGTAAAAAATGGTAACATGTAATATAACACCAATTTGGTTTAATCAGTAAAAAAATACTTTAAAATAAATGTAAATACTTAAAAAGAAAAA
Associated Phenotype:
Not determined