Busch Lab

ZMP

gmppab

Ensembl ID:
ENSDARG00000023498
ZFIN ID:
ZDB-GENE-040426-1550
Description:
Mannose-1-phosphate guanyltransferase alpha-B [Source:UniProtKB/Swiss-Prot;Acc:Q7SXP8]
Human Orthologue:
GMPPA
Human Description:
GDP-mannose pyrophosphorylase A [Source:HGNC Symbol;Acc:22923]
Mouse Orthologue:
Gmppa
Mouse Description:
GDP-mannose pyrophosphorylase A Gene [Source:MGI Symbol;Acc:MGI:1916330]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa7032 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa26706 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa7032
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032331 Essential Splice Site 46 422 2 12
Genomic Location (Zv9):
Chromosome 6 (position 13416935)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 13274214
GRCz11 6 13507749
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGTAGCAGGAGTTCCAATGCTGCAACATCACATTGAAGCCTGTGCCCAA[G/A]TRAGATACTWTACAGTTTTAAGTTATGTTTWGGKCACATGTCCATATATC
Long Flanking Sequence:
ACGTGACACCGTAATCAGCTGTATTGTCTGTTTGTATCAAATAACTGGCAAATTAAGTGTTTAAAGTAACAGTTCATCCCCAAATCTTAAAACTCTCTCATCATTTACTCATTTATTTGTCCCAAACTTTATCAGTTTTCTTTTGTATGTTGCGTGAAGATGTTTTGAAAAATGTTGGAAACCTGTAACTATTGACTTCCAGTATTAGTATTTTCCCCTACTGTGGACGTCAATGGTTACATGCTTCAGGTTTCATCAAAATATCTTCTTTTGAGCTCAACAAAAGAAACTGATAAAAGTTTGGAACCACTTGAGGGTGTGTACATTTTCATTTTTTGGGTGAACGATCCCTTTAAAATGTATTTGAAAAAGATTTTCATTAAAATGATTTGCCCCCCACAGGTACCAGGTTCCGCCCCCTGTCATTTGAGGTGCCCAAACCTCTTTTCCCTGTAGCAGGAGTTCCAATGCTGCAACATCACATTGAAGCCTGTGCCCAA[G/A]TGAGATACTTTACAGTTTTAAGTTATGTTTTGGTCACATGTCCATATATCAACATATTTCAATGTGAAATTAATATATATATATATATATATATATATATATATATATATATATATTGAACTGTGTTTGCAACAATAGATATCTTCTCTGAAAGTCTCCCACATTTGCTTCCTTTACAGGTTCCTGATATGAAGGAGATCATACTAATAGGCTTTTATCAGCCCAACGATGAGCTGAACCGCTTCATTTATTCTGCTCAGCAGGAGTTTAAAATCCCAATCAGGTAGGTTTGAAATTTTATCATTAAATAAAAACAAAGTAAATAGTTTTTAATGTATTTTAATGTGCAGTGTTTTAGGTAAGATACTTCAAGAGAGTAATTAACTACTAATTACATAATTATAGTTGTTTTTACTGTAAATTACTTTTCTAATTGTTTTAAACAGAATTACGTACAAAATAGAATAGCTAAACATTATTAGTATCGAAACATGAAACTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26706
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000032331 Nonsense 59 422 3 12
Genomic Location (Zv9):
Chromosome 6 (position 13417153)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 13274432
GRCz11 6 13507967
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CTTCCTTTACAGGTTCCTGATATGAAGGAGATCATACTAATAGGCTTTTA[T/G]CAGCCCAACGATGAGCTGAACCGCTTCATTTATTCTGCTCAGCAGGAGTT
Long Flanking Sequence:
TACTGTGGACGTCAATGGTTACATGCTTCAGGTTTCATCAAAATATCTTCTTTTGAGCTCAACAAAAGAAACTGATAAAAGTTTGGAACCACTTGAGGGTGTGTACATTTTCATTTTTTGGGTGAACGATCCCTTTAAAATGTATTTGAAAAAGATTTTCATTAAAATGATTTGCCCCCCACAGGTACCAGGTTCCGCCCCCTGTCATTTGAGGTGCCCAAACCTCTTTTCCCTGTAGCAGGAGTTCCAATGCTGCAACATCACATTGAAGCCTGTGCCCAAGTGAGATACTTTACAGTTTTAAGTTATGTTTTGGTCACATGTCCATATATCAACATATTTCAATGTGAAATTAATATATATATATATATATATATATATATATATATATATATATATTGAACTGTGTTTGCAACAATAGATATCTTCTCTGAAAGTCTCCCACATTTGCTTCCTTTACAGGTTCCTGATATGAAGGAGATCATACTAATAGGCTTTTA[T/G]CAGCCCAACGATGAGCTGAACCGCTTCATTTATTCTGCTCAGCAGGAGTTTAAAATCCCAATCAGGTAGGTTTGAAATTTTATCATTAAATAAAAACAAAGTAAATAGTTTTTAATGTATTTTAATGTGCAGTGTTTTAGGTAAGATACTTCAAGAGAGTAATTAACTACTAATTACATAATTATAGTTGTTTTTACTGTAAATTACTTTTCTAATTGTTTTAAACAGAATTACGTACAAAATAGAATAGCTAAACATTATTAGTATCGAAACATGAAACTTTTCAAAGCAGTGACAAAATATTACATTATTTAATCTTTTCAATGTCTAATTTCTTATTTATTTAATTGTTTCTTAAGCTTGTGAAATCATATTGATGAATGTAACCTTCTTTAGATGTAAAATATAATTATTCATGAAAATAAATTTGAATAACAAAAAAACAATTTCTTTGCTTCTCTGAAATTATTTATTCAGAATTTTTTAATTTATTAACACTA
Associated Phenotype:
Not determined