Busch Lab

ZMP

klhl17

Ensembl ID:
ENSDARG00000037324
ZFIN ID:
ZDB-GENE-030131-8131
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.
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.
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