ZMP
klhl12
Ensembl ID:
ZFIN ID:
Description:
Kelch-like protein 12 [Source:UniProtKB/Swiss-Prot;Acc:Q5U374]
Human Orthologue:
KLHL12
Human Description:
kelch-like 12 (Drosophila) [Source:HGNC Symbol;Acc:19360]
Mouse Orthologue:
Klhl12
Mouse Description:
kelch-like 12 (Drosophila) Gene [Source:MGI Symbol;Acc:MGI:2385619]
Alleles
There are 4 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa1918 | Essential Splice Site | F2 line generated | Not yet available |
| sa38696 | Nonsense | Mutation detected in F1 DNA | Not yet available |
| sa31659 | Nonsense | Available for shipment | Available now |
| sa21315 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa1918
Status:
F2 line generated
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 |
|---|---|---|---|---|---|
| ENSDART00000043815 | Essential Splice Site | 112 | 564 | 3 | 12 |
Genomic Location (Zv9):
Chromosome 8 (position 29217856)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 28385018 |
| GRCz11 | 8 | 28376258 |
KASP Assay ID:
554-1907.1 (used for ordering genotyping assays)
KASP Sequence:
AGAAAACGTCCAGGAGCTGCTGCCCGCTGCCTGTCTCCTGCAGCTTAAAG[G/A]TACAGGAACACAAATCAGCCTAGACCATGTATATTTCTNNGTCATTAGGTTT
Long Flanking Sequence:
CTCTGCATTATGTAATACAAGGATGCATAGCATTGGACCCTTTTTTAAAAAACAGGTGGTGTGCTGCATTTGTCCAATCAGTGACACTGACACCACAAATATGTAAATAAGGATGATAACCTGGGGATTAGGATTGCACAATGTGAACTGCAGTGTATGAATAACCAAGGATTAATTGTTAACCCCAGGTAAATTTTAAGCAGTATAACCCAGGGTTTAAAATAAATTGAATACAATTATTCAAGTGTGAAAAGCTCTTATAAATGTATGTGGGTTTTTTTAGTGTTTTTTTTTATTGTGTTTGTAAAAAGAAATCAAAAATCTTGTTTTTTTTTCTATTCTGTAGCTTGCTGAAAAAGGGAAGTCCTTTGTGGACATTCAGGGCCTCACAGCGTCCACTATGGAGATCCTGCTGGATTTTGTTTACACAGAGACAGTGCTGGTCACAGTAGAAAACGTCCAGGAGCTGCTGCCCGCTGCCTGTCTCCTGCAGCTTAAAG[G/A]TACAGGAACACAAATCAGCCTAGACCATGTATATTTCTGTCATTAGGTTTTAACATTACCAAAAAAAAAAACATTGAAAGCTTATGAAATGCTTAACAAGTTTTATACAGTATACACAAAGCGTAAAATGCAAGATCATCATACCTGAATAAATCACATCATTTTTTACCTGCTCTGTGTGTGGGAAAAAAAAAAATCGCACTGCTTGATATAATTAATTTTTTGTGAGGTAATGAATAATAAAAAGCTTGCTGAGAGACAAGCATAATAAGGACTCAGAGATTTTTAATTGTGAAGGAGACAAACTCCTGTACAAACCTGCATGAACTAAGCGAGCTATTATTCCCAAAGACCTGCTATTAGAGCTGCTATTCAGCAAAAGATGAGAGAAGAATTTAATTGATCTCCACAAGTTTTGTTATATTTAACCCTTCCCCAATATAGTAGTCTCCACAGTGTCAGTATAGTGTGCCCTTTTTTTACGAGAGGGCTCTATTTGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa38696
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:
C > T
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043815 | Nonsense | 245 | 564 | 6 | 12 |
Genomic Location (Zv9):
Chromosome 8 (position 29212643)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 28390231 |
| GRCz11 | 8 | 28381471 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTGTTGTTTTGATGTGTTTCAGCCGTTGATACGCTGTAGTCTGCCTTGC[C/T]GAGATTTGGTGGATGAAGCAAAGAAGTTTCATCTTCGTCCAGAGTTACGC
Long Flanking Sequence:
ACATGCTGACTCTCAGACAAAAACACCGGCCTTTTGTTGTTACATTCTTGTCTCTCACCACAGTCCAATAATTGTAAAGGTGTAATTGCAGCGTTTGGACTTAAATTTATGGTTTCTCGTTTAAGTCACAGATCTGATATGAAAATTAAAAGCAACAAATAGAGTTAGTTTTGCCAAAGGGGTTTTAACAAATCTGTATGTGCATAGGTTGATTCAGAGGAGCCAGTATTTGAGGCTGTTTTGAACTGGGTGAAGCACAACAGAAAGGAGAGAGAGCCGTACCTGCCTGATCTGCTGGAATACGTGCGCATGCCCCTGCTCACCCCTCGATACATCACTGATGTCATTGACGCAGAGGTCAGATTCTGACATTCGTATACATGTTGCTTGTATGAATGTACAGAATGCTGCAATTAAATCAAGGATGTTTGTTTATGGGGTCAAAGATTGAGTGTTGTTTTGATGTGTTTCAGCCGTTGATACGCTGTAGTCTGCCTTGC[C/T]GAGATTTGGTGGATGAAGCAAAGAAGTTTCATCTTCGTCCAGAGTTACGCAGCGAGATGCAGAGTCCTCGAACCCAAGCAAGACTCGGTCTGACACCTCTGTGTGTTTTCAGTATTTAGGCCTGAAATATTTCAGTAATGTTAAATATACACTTGCTGCCTACTTTTTTATGTACACACTGGGTTAAACCCCCTTTTGCCTTCAGAGCTGCTTTCATACTTAGTAAGCAATAGATGAGCTTACATTGGTCATAAAGTGATGGAAGCAGTCCGCAAGAAATAAAGACCAGCTCACACTGGGTAATTTTGGCCATGATTTAGTCATCTGAGACAAATTACGAAAAATTGGAAATATGGGGGAAAATATCCAGTCTAAAATCTATTGTGATCAGATTTGTGGTGGCTCAATGGTTAACACTGTCGACTCACACCAAGAAGGTCACTGTTTTGAGTCCGGGCTGGGCCAGGAGGCATTTCTGTCTGTGGAGTGTGAGAATGTAT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa31659
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:
C > A
Consequence:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043815 | Nonsense | 298 | 564 | 7 | 12 |
Genomic Location (Zv9):
Chromosome 8 (position 29210862)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 28392012 |
| GRCz11 | 8 | 28383252 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATCGGAGGATTTGGCAGCCAGCAGTCTCCTATTGATATTGTCGAGAAGTA[C/A]GATCCCAAAACCCGAGAGTGGAGCTTTCTTCCAGTGAGTGTTGTCCTCTG
Long Flanking Sequence:
ATGTTACTTGAGTTTCTTTTCTATCAGCTCAAATCAAATTGCAGTTCTCCTCTGATCTCTGACATTAGCAAGGCATTTTCGCCCACAGAGCTGCTGCTCATTGGATATTTTCTCTATTTTTGGACCATTCTCTGTAAACTCTAGAGATGGTTATGCAAGAAAATACAAGTAGGTTGGCAGTTTCTAAAGTACCCAGACTAGTACTTCAACAGATCATCTTGATCACATCTAGATGCATAAATGCATTGAGTTGCTGCCGTTGCATTAGGTTGCAAGCAGTTTAACAGGTGTACCTAATAAAGTGGCTGGTGAGTATGTATAATTCATTATGTCAGTCTTTTGCTGAATCAGTTATACATGTCTAAACATGCACATGTTAGAAGAAAGTCATGAACAAATACTTTTTTGACACTGGAATGGGTTTTAGGTGCCAAAGAGGTTCTGTTGGTTATCGGAGGATTTGGCAGCCAGCAGTCTCCTATTGATATTGTCGAGAAGTA[C/A]GATCCCAAAACCCGAGAGTGGAGCTTTCTTCCAGTGAGTGTTGTCCTCTGATAATTTATATATTTTTTTCTCCATATATATATTTTTTTCTCCACATATATATATATATATATATATATATATATATATACATACACACACACACACACAGACAACAGCACAGTATAGTGTATTAGTTACATATAAAGCATATAAAGTAATGTTTTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNTATATATATATATATATATATACATATATATATATATATATACATATATATATACATATATATATATATATATATATATATATATATATATATATATATATGTATATATATATATATATCTCCATAAACATATAGACATACTGAAGCAAACATCATGTCTGCCTATAGTAGGTTTAGAATCTTTGTGTACAAGT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa21315
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:
Nonsense
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000043815 | Nonsense | 543 | 564 | 12 | 12 |
Genomic Location (Zv9):
Chromosome 8 (position 29204838)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 8 | 28332610 |
| GRCz11 | 8 | 28351749 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AACTCACTGCTCAGCAGCATTGAATGTTACGACCCCGTGATTGACAGCTG[G/A]GAAGTGGTGACGTCAATGGCAACACAACGCTGTGACGCAGGCGTTTGTGT
Long Flanking Sequence:
TCATACTGTGTGATTGTCACTTACGTGCGCCACCACCGATTTGCCTGTGATTTCAGCCATTTGTCGGCGATTTTCTCAAAACATGTCGGCGAGTCAAAATCGGGGCTAAAATCATGCAGTCTGAACTAGGCATAAATCTCATACTTAGAGTAAAAATGTGTTTTCAGATCAGAATCAGTACTCTGTATTACAGTGACAAGGAATTTGTTACTCTGTATCCTGATTAGAGCATCCTTAATAATTATTGAGATTGCATTTTTGCCATACGCCGCCCAGCCCTACCTATAACACTGTTTCAGTGAAACAGAATTTTTTTTTTTAACTTTAAGACTTATTAAGACCCCGCAAACACCATGGGTAAGGTGTTAACTTGTCATGTTTTACAACTTTTTTTTAGGCTTAATCCCCTGCTTTATTGCCTCTCTGTTCTTTTTTTGCAGATATGATGGGAACTCACTGCTCAGCAGCATTGAATGTTACGACCCCGTGATTGACAGCTG[G/A]GAAGTGGTGACGTCAATGGCAACACAACGCTGTGACGCAGGCGTTTGTGTGCTCAGAGAAAAATAAGCTGAGGGAACCGTTCTGACAGACACTTTATAATGACTTCTGGATGCTGGAATTCATTGCTGGAGCATCAAATCCAGCTTTTTTATGACTTTTTGTTGCCATCTGAGATCTCAGTTCCTGTTTTTCCTTCTGAGGGAGAATAACGTTTCATGATACAGTCAACATGTGGGGTTCACCAACATGTTTTCGTCTTCATACAGAGTCTGTGATCTTTGGTTAAAATGTGAAATTCACTCAGTTGGATCCTCTAAAGTGCAATATGATAATCTACTGGTGTCAAAATGTCTCAGAGAAGAGACAGATATGTGTATGCCTTACTGCCCAAGTGACTGAATGCTTCCTGAAGGAGGGAATATTGCCGGATTCATCAGGATGTGAAAACAGCGGTGCTTTGTGTAATCTGTTTCAATCCTGTCTGTAACATCGGTCATCAT
Associated Phenotype:
Not determined