pgm3

Ensembl ID:
ENSDARG00000024654
ZFIN ID:
ZDB-GENE-041024-13
Description:
phosphoacetylglucosamine mutase [Source:RefSeq peptide;Acc:NP_001007054]
Human Orthologue:
PGM3
Human Description:
phosphoglucomutase 3 [Source:HGNC Symbol;Acc:8907]
Mouse Orthologue:
Pgm3
Mouse Description:
phosphoglucomutase 3 Gene [Source:MGI Symbol;Acc:MGI:97566]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13183 Nonsense Available for shipment Available now
sa20197 Nonsense Available for shipment Available now
sa30846 Nonsense Mutation detected in F1 DNA During 2017
sa26214 Nonsense Mutation detected in F1 DNA During 2017
sa40219 Essential Splice Site Mutation detected in F1 DNA During 2017

Mutation Details

Allele Name:
sa13183
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
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Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039987 Nonsense 165 545 5 13
Genomic Location (Zv9):
Chromosome 4 (position 5663983)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 5782164
KASP Assay ID:
2259-4458.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
NTTCTCTTGAATGCAGATTATGGWCTGGTCAGCACTCCGCAGCTCCATTA[T/A]ATGGTGTGCTGCTGCAACACAAAGGGCCGCTATGGCAGTGCCACCCTTGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20197
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
Order Allele From EZRC
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039987 Nonsense 190 545 5 13
Genomic Location (Zv9):
Chromosome 4 (position 5663910)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 5782091
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGGGCCGCTATGGCAGTGCCACCCTTGAGGGTTATTACCAAAAACTCTCC[C/T]AGGCTTTCCTTCAACTCACCCACAATGTAAGCACGACTAACAAACATCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30846
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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039987 Nonsense 258 545 6 13
Genomic Location (Zv9):
Chromosome 4 (position 5663623)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 5781804
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAGCAGTGGAAAACTCAACCACTTGTGTGGAGCAGATTATGTCAAAGTC[C/T]AGCAGAAAGCTCCCCAAGGTTTGTCTGAAATTCCTGAAGGGGAAATTTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26214
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:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039987 Nonsense 274 545 7 13
Genomic Location (Zv9):
Chromosome 4 (position 5662266)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 5780447
KASP Assay ID:
2259-4456.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCCATATTTTTTCCTGCAGGTGTGAGTATGGGAGTAGGTGAACGCTGCTG[T/A]TCATTTGATGGTGATGCCGATCGCATTGTTTACTATTACACCGACTCCAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40219
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:
T > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000039987 Essential Splice Site 417 545 10 13
Genomic Location (Zv9):
Chromosome 4 (position 5660117)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 5778298
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAAACATGCTGCAAAACTCCTGGAGAACACCGTCAATCTGATCAACCAGG[T/C]ATATATACAAACACAAACGCTGTTACAGAAGCTCTTAATTACTGACATTT
Associated Phenotype:
Not determined

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