Busch Lab

ZMP

pnpo

Ensembl ID:
ENSDARG00000017612
ZFIN ID:
ZDB-GENE-060602-2
Description:
Pnpo protein [Source:UniProtKB/TrEMBL;Acc:Q6PG36]
Human Orthologue:
PNPO
Human Description:
pyridoxamine 5'-phosphate oxidase [Source:HGNC Symbol;Acc:30260]
Mouse Orthologue:
Pnpo
Mouse Description:
pyridoxine 5'-phosphate oxidase Gene [Source:MGI Symbol;Acc:MGI:2144151]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa42050 Splice Site, Nonsense Mutation detected in F1 DNA Not yet available
sa35310 Nonsense Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa42050
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 > T
Consequence:
Splice Site, Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022724 Splice Site, Nonsense 151 229 5 7
Genomic Location (Zv9):
Chromosome 12 (position 30350493)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28687430
GRCz11 12 28802332
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTCAGATCGGTGCTGTTGTGAGCAGGCAGAGTACAGTAATACCCAGCCGA[C/T]AAGTGAGTATCATCTTCAACCACCGTCCATGGTTATTAGTTAAATAAAAC
Long Flanking Sequence:
GGTCCTTCTAAAAGGCTACAGCGAGGAGGGATTTTGCTTCTTTTCCAACTATGAGAGTCGGAAAGGTTCAGAGCTGGTGAGGTCTTTTAAACAGAAAATCAGTCCACATGTTTGCTTTTGCATCTTTACGTCTTCTAAATGCCCTTTTTGTGATAATATAGGAGAGCAATCCTCACGCCTGTCTTGTCTTTTACTGGGAACCGTTAAACAGGCAGGTAAGTCTTTTTATTGGACATGTATTTCGGAATATTCTACAGAAAATTCTTTGATAATCAGATCGAAAGAATGTTTCACTTAAGTTTAATATTTGTCTTGTTTCAAGGTTTTAATTGCTAAAAAAAAACTTTCAGCTTTAATGTTTTCTGCTCAAACAGATTCGCATTGAAGGCACTGTAGAGAGAATCCCATACGAGAAGTCACGTGAATACTTCCACTCGAGGCCCAAAAGCAGTCAGATCGGTGCTGTTGTGAGCAGGCAGAGTACAGTAATACCCAGCCGA[C/T]AAGTGAGTATCATCTTCAACCACCGTCCATGGTTATTAGTTAAATAAAACAACAGATATAAAGTAAGTTTGTTAATTGAAGCATTGTTAAAATAAAACTAAATTTAAGTATTTCATAAAAAAGAAGCTAAATCAAAACTGGAAATGCTGTTTTGGTATTTAACAGACACAAATCAACACTAAAATTAAGCAGAAAAATAAACAAAATGAATGCAACTGAAATAAAAAATGAATATGAAATTGTAAGAACTCATTTGTCAACATTAGTTGCATTTGTATGCATGTAGTGACATTTACAAATCCTATATTCTAACTAAAGAGTTTGAGGTTGGGTTTAAAAAAAAGAGTTAGTATTAGGGGTAAAACTAGGAGTTATATTAGTACAGGGTTCTTACAGGTGCTGGAAATCCTGGAAAATGCTTGATTTTTATTTTAGTGTTTTCAAGGTTAGAAAAGTGCTTGGATTTTAGACGAAGTGCTTGAACCTGCTTGAATTAGCAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa35310
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
ENSDART00000022724 Nonsense 178 229 7 7
Genomic Location (Zv9):
Chromosome 12 (position 30353895)
Other Location(s):
Assembly Chromosome Position
GRCz10 12 28690832
GRCz11 12 28805734
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTAACCAGAAGCATTATACTTACTTTTTTTTTTCTCTCCAGGGGTGGATA[C/A]ATTGTGAAACCCTCCCTGATTGAGTTTTGGCAGGGTCAGACTAACAGATT
Long Flanking Sequence:
CTTTACAAATGCACTGTATATAGTGCTTAAAGTGCCATTTAAGGGCTTATCTAGGTTAATTACGTTAAGTTATTTTTAAGAAATCTAAAGGGAGCTAATAATATTGACCATAGCAGTTTAAAAACAAACATACAAAATTTCCATCCAAGCTAAAATAAGAAAAATAATTTGAATATGTATTTTTGTCTTCAACTAGAAGTAATCCTAAAAAACAGTGCTATCCTCTGTATTATCTTTCAGCTAAATAATAATAATCATTCACATTACAGCTCTTAATTTACCTCCTGATTTTGTAAAACAATTTTGTTAATGACCCATTTCTATGTGCTTCCCTTAAAGTACCTAAGAGACAAGAATGCAGAGCTTGAAGAGAAGTTCAAGGACACAGATGTACCAATGCCAGATTACTGGTGTGTAAAATAAGCTTAATAATAGCAAATGTGTTTATATTTAACCAGAAGCATTATACTTACTTTTTTTTTTCTCTCCAGGGGTGGATA[C/A]ATTGTGAAACCCTCCCTGATTGAGTTTTGGCAGGGTCAGACTAACAGATTACATGATCGGATAGTCTTTTTGCGGCCAAAAGGGGGAGAGACCGAGCTGGGGGACATGCAGCATCAAGCAGAGGGAGGCTGGATTTACCAGCGCTTGTCCCCTTGATAGTCCACATGCTGTGAAGTCAACGTTATAGTATGTGACATCAATACATCATCATTATTTCTTGGCAGTAACTGTCATTTAAAATCCCACCAGGGCAATGTTGAAGATTTATCACTCCATCAATGTCCTGCGTTCATGTTGTCTTAACCAGAATCAGAAAGGAAGTTTCATCTGTTGATAACTGTAGATGTGGTTTTATGAATAGAAGTCATGTTGTGCTATAAATGAAGGCTATTTCATGAAAAAACTAATATTTGCTGTTTATTAACTCTGCCTCAAAAAAGACTATCAAAGATGTAGCAGACTTTTTTTTCCTCAGAAAATGTAAAGGGGATTTTTGGCTA
Associated Phenotype:
Not determined