poglut1

Ensembl ID:
ENSDARG00000053463
ZFIN ID:
ZDB-GENE-051120-24
Description:
KTEL motif-containing protein 1 [Source:RefSeq peptide;Acc:NP_001032511]
Human Orthologue:
POGLUT1
Human Description:
protein O-glucosyltransferase 1 [Source:HGNC Symbol;Acc:22954]
Mouse Orthologue:
Poglut1
Mouse Description:
protein O-glucosyltransferase 1 Gene [Source:MGI Symbol;Acc:MGI:2444232]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa32692 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa32692
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 2017.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000075500 Essential Splice Site 188 387 9 14
Genomic Location (Zv9):
Chromosome 1 (position 27816819)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 28082567
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CAGGCCATTAAGATATAATCTAATTTTTTTTTTTTTTTTTACACTTATTC[A/T]GATCGGTTGAACAATGGCCCTGGAAAAAGAAAAGCCCAAAAGGATTTTTT
Associated Phenotype:
Not determined

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