Search Zebrafish Mutation Project
e.g. ENSDARG00000093395 or slc2a11b or ENSG00000135862 or LAMC1 or sa457
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MGAT3 (1 of 2)
- Ensembl ID:
- ENSDARG00000036619
- Description:
- mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase [Source:HGNC Symbol;Acc:7
- Human Orthologue:
- MGAT3
- Human Description:
- mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase [Source:HGNC Symbol;Acc:7
- Mouse Orthologue:
- Mgat3
- Mouse Description:
- mannoside acetylglucosaminyltransferase 3 Gene [Source:MGI Symbol;Acc:MGI:104532]
Alleles
There are 2 alleles of this gene:
| Allele name | Consequence | Status | Availability Estimate |
|---|---|---|---|
| sa25324 | Essential Splice Site | Mutation detected in F1 DNA | During 2016 |
| sa33783 | Nonsense | Mutation detected in F1 DNA | During 2016 |
Mutation Details
- Allele Name:
- sa25324
- 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 2016.
- Mutation:
- G > A
- Consequence:
- Essential Splice Site
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053184 | Essential Splice Site | 138 | 500 | 4 | 5 |
- Genomic Location (Zv9):
- Chromosome 6 (position 152500)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 6 186080 - KASP Assay ID:
- 554-7308.1 (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- GCTTCCGGCAGGGCACAGAAGTGGCGCCACCCAAAGACGAAACGCTAAAA[G/A]TGAAACCCAGCGCCGCAGGAGTGATCCAGCGGAGAATACTGCAGAAACCC
- Associated Phenotype:
- Not determined
Mutation Details
- Allele Name:
- sa33783
- 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 2016.
- Mutation:
- C > T
- Consequence:
- Nonsense
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000053184 | Nonsense | 403 | 500 | 5 | 5 |
- Genomic Location (Zv9):
- Chromosome 6 (position 153337)
- Other Location(s):
-
Assembly Chromosome Position GRCz10 6 186917 - KASP Assay ID:
- None (used for ordering genotyping assays from LGC Genomics)
- KASP Sequence:
- None
- Flanking Sequence:
- CCATGCCGGGATTTCGGAAGTACGAGAATGACACTGGACACATCCTGGTG[C/T]AGTGGTCCATCGGGAGCCCGTTTCATTTCGCAGGCTGGCACTGCTCCTGG
- Associated Phenotype:
- Not determined
GWAS
This gene's human homologue has been identified in the following GWAS studies:
- IgG glycosylation: Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. (View Study)
(GWAS data comes from http://www.genome.gov/gwastudies/.)
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