Busch Lab

ZMP

uap1

Ensembl ID:
ENSDARG00000052170
ZFIN ID:
ZDB-GENE-030131-1233
Description:
UDP-N-acetylhexosamine pyrophosphorylase [Source:RefSeq peptide;Acc:NP_997786]
Human Orthologue:
UAP1
Human Description:
UDP-N-acteylglucosamine pyrophosphorylase 1 [Source:HGNC Symbol;Acc:12457]
Mouse Orthologue:
Uap1
Mouse Description:
UDP-N-acetylglucosamine pyrophosphorylase 1 Gene [Source:MGI Symbol;Acc:MGI:1334459]

Alleles

There are 3 alleles of this gene:

Allele Name Consequence Status Availability
sa33895 Nonsense Mutation detected in F1 DNA Not yet available
sa1902 Nonsense F2 line generated Not yet available

Mutation Details

Allele Name:
sa33895
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073970 Nonsense 118 504 3 10
ENSDART00000132788 Nonsense 118 277 2 4
ENSDART00000143649 None None 244 None 7

The following transcripts of ENSDARG00000052170 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 34697781)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 35065706
GRCz11 6 35049089
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGTAGCAGTTCTTCTCTTGGCTGGAGGTCAAGGGACACGGTTGGGGGTAT[C/A]ATTTCCAAAAGGCATGTATGATGTGGGCCTGCCTTCCCACAAAACCCTCT
Long Flanking Sequence:
CTCATCCACCACTTGTTCCAAAACCTGATTGAGATTCTTTCTTCTCTTAAACACAAATGAAGGTATGCCGTAGAATCCTGCTAAGAAAAAAAAAACAGCTGTTGGTTTGCATAGTATTTTTTGTTTCTACTTCCTACTATTGATGCCAAAGCCTGCTTTTTTCCCCCCAGCATTCTTCAGAATACCTTGTTTTGTGTTCAACAGAAGAAAGAAAGTCATAAAAGATTAAAACAACTAAAGTGGGATCAAATGGTTTAGTTCCTTTTAGGCGAACCCTATCCCTTTAAAGTAGCATATTTTACATCTACAAATGGAAATGCTGTTGTACTGTATGACAACATTGATGTACACATATTATGTCCATATGTTCATGGATGATATTAACACACATTCGCTAAAGTGACCTAATCTTTCCATCCACACAGGCTTGCGCTGTATAGCGGAGAACAAAGTAGCAGTTCTTCTCTTGGCTGGAGGTCAAGGGACACGGTTGGGGGTAT[C/A]ATTTCCAAAAGGCATGTATGATGTGGGCCTGCCTTCCCACAAAACCCTCTTTCAGATCCAAGCAGAGCGCATCCGAAAACTGGAACAACTTGCAGAAAAGCAGCACTCAAGGAAATGTTGCATTCCTTGGTAAGGTGATCATTAAGCTCAATTCAGGCATATTCAATTACAATAGGAGTAGTAGATAATAAAAAAGCACATTTTCAGCTTCGCACTAAAGCAGTTTGAGTCAATGATTGTTCAATTTAATTACTTGGATTACCAAACTTGTCCTGATCTTGAGGAAGTTTCTTTCACTGACCGTAATGCTAGTAACCTCCCTGCTATGAATGTCAAAAGATGGTTTAGTCCGTGTGTAATCGTGTTGACACAGCACCTGCATGTCGTCCTGGGGAACTAGGTCAGACCTCAGGAGAAAATAAGTTTCCGAGCCATTCTCTATCCAGCTGAATTGACCATTGACGCAATACATACAATGCATTTCCTAATTACAGCTCTAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa1902
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000073970 Nonsense 298 504 6 10
ENSDART00000132788 None None 277 None 4
ENSDART00000143649 Nonsense 24 244 2 7

The following transcripts of ENSDARG00000052170 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 6 (position 34704663)
Other Location(s):
Assembly Chromosome Position
GRCz10 6 35058824
GRCz11 6 35042207
KASP Assay ID:
554-1892.1 (used for ordering genotyping assays)
KASP Sequence:
ACCAATCCCACAGAAGCAGTGGGTGTGGTCTGTAAGGTGGACGGCCGTTA[T/A]CAAGTTGTAGAGTATAGTGAGATTACCCTGGCAACGGCGGAGAAGAGAAG
Long Flanking Sequence:
GGCCTCAGAATAGATGGAATTTGGATCTTATTTTAACATCAGGATTTTTTTTATTTTTAAAAAGAGGCTTTTTTTCTTTTATTTACCCAAATATGACTCTGAACACACTATACCTACACACAGTTCGGTCCAAACTGCTTCAAAAAGATGATTTTTATCATAGGTTCCCTTTAAGTTGTCACAAAAAAAAGCTTAGGATATGTGTTTTAACTCATTTTAAATAAGTAGTGTTTAAAACAAACAGCAAATGTCTTTTTTTTTTGAGTGCATGATTCTTCAAAAATAAATCTGTGCCACAATAAAATTGTGCTGTTTAATATTTTTGTGCTAAGCTTTTTATTTTGCAATATTGCATATTCACAAGTGGTCAGGACATTGAGACTTCAAAAAAGCATACATTTTGCTGAATTAATAGATGCATTTGCTTGTGATTGGCAGGTTGTGGAGAAGACCAATCCCACAGAAGCAGTGGGTGTGGTCTGTAAGGTGGACGGCCGTTA[T/A]CAAGTTGTAGAGTATAGTGAGATTACCCTGGCAACGGCGGAGAAGAGAAGCACTGACGGTCGACTGATGTTCAATGCCGGCAACATTGCCAATCACTTCTTCACCCTCACTTTCCTCAGAGAGATTGTGAGGTTAGTCAGTGCTCAGAGAAATGATTAATTCATATTTTTTTATTCATTTTTAAAGTCAGTTTTTGATTGTTTATCTATGAATCAAAGCATTTGGAGCTGGTTGAGGATATTTAGTTGCTAGGCAATGATCTCGGAAACACATTAAACAGTGCAGCTATTTCTATGAGCTATTTCCAATGAGGTTTGCCATCTTGTAAATACTAGACAGGATGGAGCTGACTTTAATGCGCACTGAGAATGAGGTAAATTCAGGAGAGGAACATCTGCAGTTTTTGAGCGTCTGGTATTTTAAACTCAGATGACTTTGCCAGACGTGTTCTCTTATTGTCATTTTTATGACATTTTAACTGAAAGAACATGCTTGGCTTT
Associated Phenotype:
Not determined