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e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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gcn1l1
- Ensembl ID:
- ENSDARG00000058419
- ZFIN ID:
- ZDB-GENE-040724-264
- Description:
- Putative uncharacterized protein [Source:UniProtKB/TrEMBL;Acc:B5DE37]
- Human Orthologue:
- GCN1L1
- Human Description:
- GCN1 general control of amino-acid synthesis 1-like 1 (yeast) [Source:HGNC Symbol;Acc:4199]
- Mouse Orthologue:
- Gcn1l1
- Mouse Description:
- GCN1 general control of amino-acid synthesis 1-like 1 (yeast) Gene [Source:MGI Symbol;Acc:MGI:244424
Alleles
There are 3 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa6092 | Essential Splice Site | Mutation detected in F1 DNA | During 2018 |
| sa21180 | Essential Splice Site | Available for shipment | Available now |
| sa34283 | Nonsense | Mutation detected in F1 DNA | During 2018 |
Mutation Details
- Allele Name:
- sa6092
- 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:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081272 | Essential Splice Site | 851 | 2669 | 23 | 61 |
- Genomic Location (Zv9):
- Chromosome 8 (position 3766384)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 3512867 GRCz11 8 3571616 - KASP Assay ID:
- 554-3859.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- TGCAGATCCAGCTGGAGAAAGAGTCTACTATCCGCAAGCGTCTGCAGGAG[G/A]TGAGAGCTCATACAGCAGCAGCAGTGATGGTCTGAGCTGCGCTGATCAAA
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa21180
- Current 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:
- T > C
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081272 | Essential Splice Site | 851 | 2669 | 23 | 61 |
- Genomic Location (Zv9):
- Chromosome 8 (position 3766385)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 3512868 GRCz11 8 3571617 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GCAGATCCAGCTGGAGAAAGAGTCTACTATCCGCAAGCGTCTGCAGGAGG[T/C]GAGAGCTCATACAGCAGCAGCAGTGATGGTCTGAGCTGCGCTGATCAAAG
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa34283
- 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:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000081272 | Nonsense | 1650 | 2669 | 39 | 61 |
- Genomic Location (Zv9):
- Chromosome 8 (position 3796715)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 8 3543697 GRCz11 8 3602446 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GGCTCATAGATTTACTGTGTGTATGCGTTTTCAGGATCTGTCTCCGTATT[T/A]GCCCAGTGTGATTCCAGGCCTCAAAGCATCTCTGCTGGACCCTGTGCCAG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- Obesity-related traits: Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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