ZMP
pcnt1
Ensembl ID:
ZFIN ID:
Description:
Nuclear pore complex protein Nup85 [Source:UniProtKB/Swiss-Prot;Acc:Q6DBY0]
Human Orthologue:
NUP85
Human Description:
nucleoporin 85kDa [Source:HGNC Symbol;Acc:8734]
Mouse Orthologue:
Nup85
Mouse Description:
nucleoporin 85 Gene [Source:MGI Symbol;Acc:MGI:3046173]
Alleles
There are 2 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa5182 | Essential Splice Site | F2 line generated | Not yet available |
| sa19941 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa5182
Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
A > G
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000067720 | Essential Splice Site | 43 | 334 | 3 | 12 |
Genomic Location (Zv9):
Chromosome 3 (position 6935364)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 6565834 |
| GRCz11 | 3 | 6451942 |
KASP Assay ID:
554-3581.1 (used for ordering genotyping assays)
KASP Sequence:
GRAACATGAAATAAAAACCCATCCTAGTCCTGAGGGGTGTTTCTGTGTTC[A/G]GGTTCGAGCTCTGCAGGCTCTYYGCTGGTGCACRTGGTGAGGAAGGATGA
Long Flanking Sequence:
CCTAAGAACACAATATAGACATGAAATCTTTGTCTTAATTCAGACTATTTTCTGACTTGTGTGAGACTTGTGAGAGACTTGTGAAAGAACTTGCAGACTGTGGACCTCTAGTAGGCTCTTGCAGACACATGGACATCTTAAAGACGCTGTAAGACTGCAGATTAACCAACACGTCTCAATAAAGGAATCCTGCTTGTTTCGAGTCTCCTGGACTGGGTTCTCTCTTCTTTTTCACTCATTTATTTTTTTACAACAAACACAATAAAAAAAAAATCGAAATCGTGAATCGGTCAAACTTTATAAAAAACCTAGATTTTTTTTTTTGCTTAATCGCCCAGCCTTAATTGTAGAGATTGATATTCCTTTTTCCCTGTGATTCTCATGTATGTAAAGTGTGTGTACATATGTGTTTGTGTTAATGTACTGTATGTATTATTAGTGTGTGTGTGAGGAACATGAAATAAAAACCCATCCTAGTCCTGAGGGGTGTTTCTGTGTTC[A/G]GGTTCGAGCTCTGCAGGCTCTCCGCTGGTGCACATGGTGAGGAAGGATGAGGACATCTGCTCCCCCATCCTGCGCAAGCTCTTCAACGAGTCGCATCTCATCTTCATGGGGCTGCAGAAGATTAAAGAGGACGCGCCCAGCAAAAACAAGAAGACGCAGTGAGTCCTCATGCATGAGACACAGTGTGCGGGACAGGGTAAAGGCGCAGTGTGTGTGTCTGACTGATTGCCCAGTGGTTAATGCACATGATATCTGTGTTTATTGTTTTCTTTATTAATAATAAAACTATTAATTTTATTCAATAATGTAAGTAAAACATGTAATGGGTCTACATTGATGCGAAACGAGCTAATTATCATCTTTAAAATCGACATAGGTCTCAGCTCTCGGTGATATCTTTGCCTATTGTCGATACACACTATTATTGTCTATTGGCAAAACCCTACTTCCCATCAAAAAACAGCAACAATCAGGTTTTGCAATCAAAAAAATGTCGTTTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa19941
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000067720 | Essential Splice Site | 242 | 334 | 8 | 12 |
Genomic Location (Zv9):
Chromosome 3 (position 6925593)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 3 | 6575630 |
| GRCz11 | 3 | 6461738 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGTGTTCAAGCGCATGGACACACTCTTACAGACCATGCCCATATTCAACG[T/C]ACGTACATCAGGACATCACACTCAAACACATAGCTATAAAGCAAATCATC
Long Flanking Sequence:
TTAAACTAAAATGGCTGCTTGGTGTAAATAAAAATATAAACCATAATCAATAGACATAGTTAAACAATTAGCACAACTATAAAATTGATAATAAAATCTTCTTTAAAATCTAGAAATGTTTAATTTATGTACAGATTAGGGTTAGCCTTATGGACCGATACTTCAATCGCTTAAAACTAAGCTTTAAAATAATTTTAGATGAAGATATTGGTTATACAGACTGGAGTTGTCAGTAGCTCAGACTTGCATGTAATGTGATTCATGTACTGAAATGGTTTGATATGAATATGTGTGCATTTACTCCTCTAATTCTCATCCTCTTGTGTGTGTGCGCGTGTACTTGTATGTGTGTGTGTGTGCGCAGGTGACCAGTTTAGTCCTGCAGGGCCGCATGGATGAAGCGCGTCAGATTCTGTCCAAACAGGCGTCTCTGCGGATGGAGAGCAGCTCGGTGTTCAAGCGCATGGACACACTCTTACAGACCATGCCCATATTCAACG[T/C]ACGTACATCAGGACATCACACTCAAACACATAGCTATAAAGCAAATCATCTTTTTTTTTTCTTTTAAATTGAAGCATGTACGCTGTGAGGGTATATATACAGGGCTCAACAATAAGGACTGCCTGATGGCCCGGGGCCAGTGTGAGAGATGCTTGGGATCATTACCCGCCCGATTGGGGTCACCTTTTTGTTAAATAATTTCGAACTGAAATAAAATACCTTCACATTTTCTGTACTGCTCTTTTTGTTTTGTTAACATATAATTTTGCTCATTATACATATATTAACATTTTAAAAGTATTATTTAAATAATTTTTAACATTAAAATAATTATAGGAATTATTTTTGACACAAAATTTAAAATATGTGGCAAAAAATAGCTGTTAAATTGTATTTTTTCTTAAGTGGGGCTCATGGAAATTTTGGCCAGGCAAGTAAAAATCTAAACCATTGGCCCGATCGGACCAGTAGAAAAAATCCTTAGCGTTGAAACCTGATAT
Associated Phenotype:
Not determined