ZMP
klhl17
Ensembl ID:
ZFIN ID:
Human Orthologue:
KLHL17
Human Description:
kelch-like 17 (Drosophila) [Source:HGNC Symbol;Acc:24023]
Mouse Orthologue:
Klhl17
Mouse Description:
kelch-like 17 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:2678948]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa29918 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa37694 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa29918
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000089050 | Essential Splice Site | 431 | 591 | 9 | 11 |
| ENSDART00000132296 | None | None | 107 | None | 3 |
| ENSDART00000137353 | Essential Splice Site | 431 | 591 | 10 | 12 |
Genomic Location (Zv9):
Chromosome 23 (position 23504203)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 23283510 |
| GRCz11 | 23 | 23210061 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTGGTTGCACTATACTGCAAACACATGCCTATTTCACATATTTCTCTTTC[A/T]GATGGCAGTTTGTATGCAGTCGGTGGGTACGACAGCTCTTCACACTTAGC
Long Flanking Sequence:
TTAGGTAAATACCAATCTAATTATAACTGTTTACACTTTTCTCTGTACTTTAACCCTTCCTTTATGTAGGGTTTCTGCTAGTCAAATGTAAGATCTTTTAGACCTTTTTCAAGACCATTATGAATGACTTCTATGGGGCAAAATGCTAAGGATTTTGAAATGTTATTGTAATAAGAAAAATTAAACCATCTTGGTAAACCTAATTCATAATGTAACCTTTTGCTACAAGCTTTAAGATGGATTGCTGGTGATTGGATGAATGTTGCCATGCTTGGATACATTTATATAGACATACAGTAGTTAATATACATTTTAAAATGACAAACTACAACACAACATTTCAGATAATATTTAAGACTTTTTTAAGGGCTAAAATCTTATTTTTGAAATGTAAGACATTTTAAGACTGTGGAGACACCGTTCATATTTTAGCCAGTTGAAATGTTCTCTGTGGTTGCACTATACTGCAAACACATGCCTATTTCACATATTTCTCTTTC[A/T]GATGGCAGTTTGTATGCAGTCGGTGGGTACGACAGCTCTTCACACTTAGCAACAGTAGAAAAATACGACCCTCAGGTAGGTGAAACATTTCTCTCTGACATGCCGAAAACATCTTCAGGATGTGTTTTTTTGTTTTCTCTCCATGGTTAACTGACTAAATATGTATTTTACAGAGTAATGCATGGACTGCCATTGCCAACATGTTAAGCAGGAGAAGCAGTGCAGGAGTGGCTGTACTGGAAGGCATGCTTTATGTTGCGGGTGGCAATGATGGTACCAGCTGCCTAAATTCGGTGGAACGATACAATCCCAAAACCAACACGTGGGAAGGAGTGGCTCCTATGAACATCCGCAGGTTCGATTGTGACTTTATCAATTCATTAATTTTCCAGCCGCAACCCATCTCTGGGAAACATCCATACACACTTATTCACACTCATACACTACGGACAATTTAGCTAACCCAACTCACCTGTAACGCATGTCTTTGGACTGTGGGG
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa37694
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 |
|---|---|---|---|---|---|
| ENSDART00000089050 | Essential Splice Site | 516 | 591 | 10 | 11 |
| ENSDART00000132296 | None | None | 107 | None | 3 |
| ENSDART00000137353 | Essential Splice Site | 516 | 591 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 23 (position 23504559)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 23 | 23283866 |
| GRCz11 | 23 | 23210417 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATCCCAAAACCAACACGTGGGAAGGAGTGGCTCCTATGAACATCCGCAG[G/A]TTCGATTGTGACTTTATCAATTCATTAATTTTCCAGCCGCAACCCATCTC
Long Flanking Sequence:
ACTTTTTTAAGGGCTAAAATCTTATTTTTGAAATGTAAGACATTTTAAGACTGTGGAGACACCGTTCATATTTTAGCCAGTTGAAATGTTCTCTGTGGTTGCACTATACTGCAAACACATGCCTATTTCACATATTTCTCTTTCAGATGGCAGTTTGTATGCAGTCGGTGGGTACGACAGCTCTTCACACTTAGCAACAGTAGAAAAATACGACCCTCAGGTAGGTGAAACATTTCTCTCTGACATGCCGAAAACATCTTCAGGATGTGTTTTTTTGTTTTCTCTCCATGGTTAACTGACTAAATATGTATTTTACAGAGTAATGCATGGACTGCCATTGCCAACATGTTAAGCAGGAGAAGCAGTGCAGGAGTGGCTGTACTGGAAGGCATGCTTTATGTTGCGGGTGGCAATGATGGTACCAGCTGCCTAAATTCGGTGGAACGATACAATCCCAAAACCAACACGTGGGAAGGAGTGGCTCCTATGAACATCCGCAG[G/A]TTCGATTGTGACTTTATCAATTCATTAATTTTCCAGCCGCAACCCATCTCTGGGAAACATCCATACACACTTATTCACACTCATACACTACGGACAATTTAGCTAACCCAACTCACCTGTAACGCATGTCTTTGGACTGTGGGGGAAACTGGAGCACCCGGAGAAAACCCATGCGAACGTGGGGAGAACATGCAAATTCCACACAGAAACGCCAACTAGACCCACCAGAGGCTCAAACCATTGACCTTCTTGTTGTGAGGCGGCAGTACTACCTACTGCGCCACTGCATCGCCATTTACCGTAACTTAAACGGCCTATTAAAAACGGAATGACGTTACATATTTCCAGGAAAAGCACCATTCACACATCCATTCCAAAATACATTTAAATTCTCTGACAACGTTAAAATGACCTCTAAACGGCTGCACTTGCATTTGTACACAGGCTCATGGTTTTATTTTGTTTCATACTTTTGCTGTTTTAGTCCCAGAAACAAACCA
Associated Phenotype:
Not determined