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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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si:ch1073-193f3.1
- Ensembl ID:
- ENSDARG00000075048
- ZFIN ID:
- ZDB-GENE-100922-9
- Human Orthologue:
- LONRF1
- Human Description:
- LON peptidase N-terminal domain and ring finger 1 [Source:HGNC Symbol;Acc:26302]
- Mouse Orthologue:
- Lonrf1
- Mouse Description:
- LON peptidase N-terminal domain and ring finger 1 Gene [Source:MGI Symbol;Acc:MGI:3609241]
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa19088 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa9353 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa35722 | Essential Splice Site, Missense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa19088
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109513 | None | 311 | None | 8 | |
| ENSDART00000109935 | Essential Splice Site | 192 | 605 | 5 | 13 |
| ENSDART00000114153 | None | 588 | None | 14 | |
| ENSDART00000135556 | None | 596 | None | 12 | |
| ENSDART00000137512 | None | 539 | None | 11 | |
| ENSDART00000109513 | None | 311 | None | 8 | |
| ENSDART00000109935 | Essential Splice Site | 192 | 605 | 5 | 13 |
| ENSDART00000114153 | None | 588 | None | 14 | |
| ENSDART00000135556 | None | 596 | None | 12 | |
| ENSDART00000137512 | None | 539 | None | 11 |
- Genomic Location (Zv9):
- Chromosome 14 (position 35164196)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 14 33737234 GRCz11 14 34077548 - KASP Assay ID:
- 2260-7752.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- ATGATAATAGCAACATGCAATACATCAATAAAAGATGTATAATTCTTGTA[T/G]AATATGCAGATCTTGGAAGCAGAGGGCATGGCTGTGCCGGAGGAAGTTCC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa9353
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- T > G
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109513 | None | 311 | None | 8 | |
| ENSDART00000109935 | Essential Splice Site | 192 | 605 | 5 | 13 |
| ENSDART00000114153 | None | 588 | None | 14 | |
| ENSDART00000135556 | None | 596 | None | 12 | |
| ENSDART00000137512 | None | 539 | None | 11 | |
| ENSDART00000109513 | None | 311 | None | 8 | |
| ENSDART00000109935 | Essential Splice Site | 192 | 605 | 5 | 13 |
| ENSDART00000114153 | None | 588 | None | 14 | |
| ENSDART00000135556 | None | 596 | None | 12 | |
| ENSDART00000137512 | None | 539 | None | 11 |
- Genomic Location (Zv9):
- Chromosome 14 (position 35164196)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 14 33737234 GRCz11 14 34077548 - KASP Assay ID:
- 2260-7752.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- ATGATAATAGCAACATGCAATACATCAATAAAAGATGTATMATTCTTGTA[T/G]AATATGCAGATCTTGGAAGCAGAGGGCATGGCTGTGCCGGAGGAAGTTCC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa35722
- Current Status:
-
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs. - Availability:
- We currently estimate that this allele will be available during 2018.
- Mutation:
- T > A
- Consequence:
- Essential Splice Site, Missense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000109513 | None | 311 | None | 8 | |
| ENSDART00000109935 | Missense | 212 | 605 | 5 | 13 |
| ENSDART00000114153 | Essential Splice Site | 176 | 588 | 5 | 14 |
| ENSDART00000135556 | Missense | 203 | 596 | 4 | 12 |
| ENSDART00000137512 | None | 539 | None | 11 |
- Genomic Location (Zv9):
- Chromosome 14 (position 35164259)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 14 33737297 GRCz11 14 34077611 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- TTGGAAGCAGAGGGCATGGCTGTGCCGGAGGAAGTTCCACGGATCCTGCA[T/A]GTTGTGTCTGAGTTTTTGCAGGATCCCTGTCCAATCACCAGCTCCGTAAG
- Associated Phenotype:
- Not determined
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