Busch Lab

ZMP

nupl1

Ensembl ID:
ENSDARG00000033965
ZFIN ID:
ZDB-GENE-040426-2326
Description:
nucleoporin p58/p45 [Source:RefSeq peptide;Acc:NP_998394]
Human Orthologue:
NUPL1
Human Description:
nucleoporin like 1 [Source:HGNC Symbol;Acc:20261]
Mouse Orthologue:
Nupl1
Mouse Description:
nucleoporin like 1 Gene [Source:MGI Symbol;Acc:MGI:1919094]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa24509 Nonsense Available for shipment Available now
sa37897 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa24509
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
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019350 Nonsense 350 567 9 13
ENSDART00000122997 Nonsense 351 568 9 14
ENSDART00000126395 Nonsense 350 437 9 12

The following transcripts of ENSDARG00000033965 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 24 (position 25631654)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 24878532
GRCz11 24 25023706
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTTAGTAATTGATGGCACTAATGTGCACTCCATCTTTCCTTCCAGCTA[T/A]TTCCGGGCACTAGTGGAGCAGTTTGAGGTGCAGTTACAGCAGTACCGTCA
Long Flanking Sequence:
TTAATTAAAATGTGAATGTATCAGATGTCTTTTTTTTGTCTTTGACTAACTACGTGCCTGATTTTACCATAGGAAATTTGTCAAGGAACAGAAGCAAGTCCAGGAGGAGATTAGCAGAATGTCCTCTAAACCCATTCTCAAAGTTCAAGAGGACATCAAGATGCTCAGACAGCTCTTGTCCATCTGTGCCAGCGGGCTGCAGAGAAATTCCCTCTCCATAGATAAATTAAAGCTGGAAACTTCTCAGGTTAGACCAAACATGTCTTTTGGACCATCTTCATTACTTCCCAGAGTATTGTTCAGTCTTGTAATCTGTCTTTTTTTTCATTCAGGAATTGAAAAATGCTGATATTGCGCTTCGCACCCAGAAGACCCCGCCTGGACTCCAACATGAAAACACAGCACCATCAGAGTGAGTGTGAACTTGTGCGCTATTACTTCCATTTAAAGCAGTTAGTAATTGATGGCACTAATGTGCACTCCATCTTTCCTTCCAGCTA[T/A]TTCCGGGCACTAGTGGAGCAGTTTGAGGTGCAGTTACAGCAGTACCGTCAGCAGATTGAAGAACTGGAGAATCATCTGACCACTCAGGGCAGTGGCTCCCACATCACCCCTCAAGGTTTGTTATACCAGACTGAACAAAGCACTGTCATGTGTTAGCTCTGATATCCACTTAACTTTATGATATCCTCTGTCATGTAGATTTGTCGATGGCTATGCAGAAGCTCTACCAGACGTTTGTTGCGCTTGCTGCTCAGTTGCAGGGAGTTCATGAGAATGTTAAAGTAAGTTTTGAACTCATTTTTTGTTGCATTGTAAATGTTGTTTTTTAATCAGTTATTAATGAGATTATAAATGAGGGTCAAATTAGGCATTGGCTGGTATAAGATTCTGACGGTATGATAATCTTGGATAAAAATATCACGGTATCGTGAACACAATATATTTTATTTTAGGAAACATTTTTTAAAAATTGGATCATTAGCAGTTGATGTAAAAGTTCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa37897
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000019350 Essential Splice Site 484 567 None 13
ENSDART00000122997 Essential Splice Site 485 568 None 14
ENSDART00000126395 None None 437 None 12

The following transcripts of ENSDARG00000033965 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 24 (position 25627840)
Other Location(s):
Assembly Chromosome Position
GRCz10 24 24874718
GRCz11 24 25019892
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCGTAGCCATGGCTGCCACTCTCACTCAGCAGCAGCAGCCGGCTCCAGG[T/C]CTGACCGCCTTCAAGTTCTAGACCTCTTGACTGATAGATATAAGGAATAG
Long Flanking Sequence:
AATCTCAATCTCCCCTCTCTCCCTCCTGTCTAAATGGACAGCTTGCCAAATATGCTTTAACTTATTCAAGCATTAGCTAAGTGTGAACTCTTGAAAATAGAATTGGCGGTGCAGATGGTCTAGTGATCATTGTGCTGTAGCAAAACTGCTCTGAGGTTTCAACACATGGGCCTTTCCTGATCCTGACTTCCCTCTCTTCTACTTCAATTTCTGCCAATATGCTGTCCTCTCAAAGCAAAAAAAAAACAAAAAAACGGTAGTATTGTAATTAAACTAATGTTTTTTTGTTCTCTGCAGACTCTAAAGCATCAGTACCTGGGCTACAGACGAGCCTTCCTAGAGGACTCCACTGACATCTTCGAGTCGAAACGTGTTGCTGGCAAGAAATGGCAGAGTTCTCCGCGTGTCACCACAGGCCCCGCCCCCTTCGGCAGCGTTCCCAATGCAGCGGCCGTAGCCATGGCTGCCACTCTCACTCAGCAGCAGCAGCCGGCTCCAGG[T/C]CTGACCGCCTTCAAGTTCTAGACCTCTTGACTGATAGATATAAGGAATAGAAAGAACGAGGGGAGGGGGAACGGTGGAGAAAGGCAGATAGAGCTAAATAATTCAAAAATAAACCGTAAATTCAGTCAGTGCCATGTCTGTTTTTTTGTTTTATTTTTTGATATGGAGCAACAGGGTTCTTTTAATACACACCGTGTGCCAACTAGTGTGTGGTGAGATTTTTTTAGACGCTGACTGTCCTGCCTGACTTCCATTTTTGTTCTAATTTCTTTTGTTTTGTCAAGAAAGCAATTGCATCATATGCTTTTCTTTTATATAGATATAGCTCACAAGTTTTAATCAAGGGCACATTCCATATCTTAATGAGACAGTCTGTTTGTGCTTTATATGGGTGGACTTCTGTCTTGAGTGGCAGAGAATATCGTGTTTATAGATAGGGTTTGGTCTCAGTTATTTTATTTTTTATTTTTTCTCAACAGCACTATTGTAGCCATCACTAC
Associated Phenotype:
Not determined