Busch Lab

ZMP

LOC559694

Ensembl ID:
ENSDARG00000076094
Human Orthologue:
KLHL30
Human Description:
kelch-like 30 (Drosophila) [Source:HGNC Symbol;Acc:24770]
Mouse Orthologue:
Klhl30
Mouse Description:
kelch-like 30 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:1918038]

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa20706 Essential Splice Site Available for shipment Available now
sa15354 Essential Splice Site Available for shipment Available now
sa10247 Nonsense Available for shipment Available now
sa40697 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa20706
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114048 Essential Splice Site 258 593 1 7
Genomic Location (Zv9):
Chromosome 6 (position 27049085)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 27350296
GRCz11 6 27340857
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGCAGAACTCACTAGAATCCAGAGAGCTGGTCGAGAGGATATGTAGAGAG[G/A]TTGAAACTTATCTGTTTATATACTGTAGACAATTTTTCAAACTAGAAAAA
Long Flanking Sequence:
ATACAGGGAAACTAACCATCAACAAAAACAATGTGGAGGGACTCATTTGCACATCCAGCCAACTCCAGTTTCACACCGTCCGCAGTGTGTGCTGTCGCTATTTGCAGCACCAGATTGATGCCACAAATTGCTTGGGAATTCTTGAGTTTGGAGAGATCCATGGCTGCCCTGAAGTGGTTGCCAAAGCGTGGAGCTTCCTTCTGGAAAACTTTGAAGCAGTGAAACAGCATGAGGAGTTTTTGCAGCTGGAGAAAGACAGACTGGTGGCCTGCCTGAAGGACGAAGATCTGCACCTAAGAGACGACCGCTCATGTGCCGAGGCAGTTGTGTCATGGGTCAGGCATAGTAAAGACAGTCGGATCTGTGATTTGCGAGAATTGTTGAGTTTGGCTAAGCTTTCCCTCCTTTCAGAATCCTACCTCACAGAGAACTTGCTTAAGGAGCCATTGGTGCAGAACTCACTAGAATCCAGAGAGCTGGTCGAGAGGATATGTAGAGAG[G/A]TTGAAACTTATCTGTTTATATACTGTAGACAATTTTTCAAACTAGAAAAATGTATTTGTTTTATAACGTGATATTTTTTCCTCTTCTTCAGAAGCGACAATTGACGGGAGATGGAAAGACTGAGCAGAGAGCCACTCAGGATGCTTTCAACCAACAAGAGGTTTTATTTGTGATGGGTGGTCGCTCGCTGGATGATTCAGATGATGAAGACGAGGATGAAGATGAGAACAGAGATGGAAGGTTGCATCCTAGAAATTGTGGTTTCTATAACCCAAAACTTGGTAAGGACAAGTTCAACTGACGATTGTAATGTTAAACACTTAATCAGGGTTTTCTCCAGCTGCGGCACAGATCTTTCAACTACCTATGGTGTTATTTTAATGACAAATGTTGTGACGCAGTATTACAAGTCAAGATCACATTTATGTATTTCGAGGATGCGAATCTCTTTGCTTGAGCGCCAATTTCATCTGTTCATGCACAAAAGTTCTTGCACTCCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15354
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114048 Essential Splice Site 258 593 1 7
Genomic Location (Zv9):
Chromosome 6 (position 27049086)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 27350297
GRCz11 6 27340858
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GCAGAACTCACTAGAATCCAGAGAGCTGGTCGAGAGGATATGTAGAGAGG[T/C]TGRAACTTATCTGTTTATATACTGTAGAYAAWTTTTCAAACTAGAAAAAT
Long Flanking Sequence:
TACAGGGAAACTAACCATCAACAAAAACAATGTGGAGGGACTCATTTGCACATCCAGCCAACTCCAGTTTCACACCGTCCGCAGTGTGTGCTGTCGCTATTTGCAGCACCAGATTGATGCCACAAATTGCTTGGGAATTCTTGAGTTTGGAGAGATCCATGGCTGCCCTGAAGTGGTTGCCAAAGCGTGGAGCTTCCTTCTGGAAAACTTTGAAGCAGTGAAACAGCATGAGGAGTTTTTGCAGCTGGAGAAAGACAGACTGGTGGCCTGCCTGAAGGACGAAGATCTGCACCTAAGAGACGACCGCTCATGTGCCGAGGCAGTTGTGTCATGGGTCAGGCATAGTAAAGACAGTCGGATCTGTGATTTGCGAGAATTGTTGAGTTTGGCTAAGCTTTCCCTCCTTTCAGAATCCTACCTCACAGAGAACTTGCTTAAGGAGCCATTGGTGCAGAACTCACTAGAATCCAGAGAGCTGGTCGAGAGGATATGTAGAGAGG[T/C]TGAAACTTATCTGTTTATATACTGTAGACAATTTTTCAAACTAGAAAAATGTATTTGTTTTATAACGTGATATTTTTTCCTCTTCTTCAGAAGCGACAATTGACGGGAGATGGAAAGACTGAGCAGAGAGCCACTCAGGATGCTTTCAACCAACAAGAGGTTTTATTTGTGATGGGTGGTCGCTCGCTGGATGATTCAGATGATGAAGACGAGGATGAAGATGAGAACAGAGATGGAAGGTTGCATCCTAGAAATTGTGGTTTCTATAACCCAAAACTTGGTAAGGACAAGTTCAACTGACGATTGTAATGTTAAACACTTAATCAGGGTTTTCTCCAGCTGCGGCACAGATCTTTCAACTACCTATGGTGTTATTTTAATGACAAATGTTGTGACGCAGTATTACAAGTCAAGATCACATTTATGTATTTCGAGGATGCGAATCTCTTTGCTTGAGCGCCAATTTCATCTGTTCATGCACAAAAGTTCTTGCACTCCCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10247
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114048 Nonsense 270 593 2 7
Genomic Location (Zv9):
Chromosome 6 (position 27049210)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 27350421
GRCz11 6 27340982
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTTTTCCTCTTCTTCAGAAGCGACAATTGACGGGAGATGGAAAGACTGAG[C/T]AGAGAGCCACKCAGGATGCTTTCAACCAACAAGAGGTTTTATTTGTGATG
Long Flanking Sequence:
AATTGCTTGGGAATTCTTGAGTTTGGAGAGATCCATGGCTGCCCTGAAGTGGTTGCCAAAGCGTGGAGCTTCCTTCTGGAAAACTTTGAAGCAGTGAAACAGCATGAGGAGTTTTTGCAGCTGGAGAAAGACAGACTGGTGGCCTGCCTGAAGGACGAAGATCTGCACCTAAGAGACGACCGCTCATGTGCCGAGGCAGTTGTGTCATGGGTCAGGCATAGTAAAGACAGTCGGATCTGTGATTTGCGAGAATTGTTGAGTTTGGCTAAGCTTTCCCTCCTTTCAGAATCCTACCTCACAGAGAACTTGCTTAAGGAGCCATTGGTGCAGAACTCACTAGAATCCAGAGAGCTGGTCGAGAGGATATGTAGAGAGGTTGAAACTTATCTGTTTATATACTGTAGACAATTTTTCAAACTAGAAAAATGTATTTGTTTTATAACGTGATATTTTTTCCTCTTCTTCAGAAGCGACAATTGACGGGAGATGGAAAGACTGAG[C/T]AGAGAGCCACTCAGGATGCTTTCAACCAACAAGAGGTTTTATTTGTGATGGGTGGTCGCTCGCTGGATGATTCAGATGATGAAGACGAGGATGAAGATGAGAACAGAGATGGAAGGTTGCATCCTAGAAATTGTGGTTTCTATAACCCAAAACTTGGTAAGGACAAGTTCAACTGACGATTGTAATGTTAAACACTTAATCAGGGTTTTCTCCAGCTGCGGCACAGATCTTTCAACTACCTATGGTGTTATTTTAATGACAAATGTTGTGACGCAGTATTACAAGTCAAGATCACATTTATGTATTTCGAGGATGCGAATCTCTTTGCTTGAGCGCCAATTTCATCTGTTCATGCACAAAAGTTCTTGCACTCCCTCTCAAATATGCTCAGGCACAAATTTTCTTGTGTGCTCACAAATAAACGCTGCTGATTTATGATTTAGTGCGTTTATCTAACGAGTATGTCTCTAACATTTATTAGATTTGCATTTATGAATGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40697
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114048 Nonsense 280 593 2 7
Genomic Location (Zv9):
Chromosome 6 (position 27049240)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 27350451
GRCz11 6 27341012
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CGGGAGATGGAAAGACTGAGCAGAGAGCCACTCAGGATGCTTTCAACCAA[C/T]AAGAGGTTTTATTTGTGATGGGTGGTCGCTCGCTGGATGATTCAGATGAT
Long Flanking Sequence:
ATCCATGGCTGCCCTGAAGTGGTTGCCAAAGCGTGGAGCTTCCTTCTGGAAAACTTTGAAGCAGTGAAACAGCATGAGGAGTTTTTGCAGCTGGAGAAAGACAGACTGGTGGCCTGCCTGAAGGACGAAGATCTGCACCTAAGAGACGACCGCTCATGTGCCGAGGCAGTTGTGTCATGGGTCAGGCATAGTAAAGACAGTCGGATCTGTGATTTGCGAGAATTGTTGAGTTTGGCTAAGCTTTCCCTCCTTTCAGAATCCTACCTCACAGAGAACTTGCTTAAGGAGCCATTGGTGCAGAACTCACTAGAATCCAGAGAGCTGGTCGAGAGGATATGTAGAGAGGTTGAAACTTATCTGTTTATATACTGTAGACAATTTTTCAAACTAGAAAAATGTATTTGTTTTATAACGTGATATTTTTTCCTCTTCTTCAGAAGCGACAATTGACGGGAGATGGAAAGACTGAGCAGAGAGCCACTCAGGATGCTTTCAACCAA[C/T]AAGAGGTTTTATTTGTGATGGGTGGTCGCTCGCTGGATGATTCAGATGATGAAGACGAGGATGAAGATGAGAACAGAGATGGAAGGTTGCATCCTAGAAATTGTGGTTTCTATAACCCAAAACTTGGTAAGGACAAGTTCAACTGACGATTGTAATGTTAAACACTTAATCAGGGTTTTCTCCAGCTGCGGCACAGATCTTTCAACTACCTATGGTGTTATTTTAATGACAAATGTTGTGACGCAGTATTACAAGTCAAGATCACATTTATGTATTTCGAGGATGCGAATCTCTTTGCTTGAGCGCCAATTTCATCTGTTCATGCACAAAAGTTCTTGCACTCCCTCTCAAATATGCTCAGGCACAAATTTTCTTGTGTGCTCACAAATAAACGCTGCTGATTTATGATTTAGTGCGTTTATCTAACGAGTATGTCTCTAACATTTATTAGATTTGCATTTATGAATGTGTCCAATAGACCTACAAAGCGGCATTAATGA
Associated Phenotype:
Not determined