ZMP
pcsk1
Ensembl ID:
ZFIN ID:
Description:
neuroendocrine convertase 1 [Source:RefSeq peptide;Acc:NP_001131134]
Human Orthologue:
PCSK1
Human Description:
proprotein convertase subtilisin/kexin type 1 [Source:HGNC Symbol;Acc:8743]
Mouse Orthologue:
Pcsk1
Mouse Description:
proprotein convertase subtilisin/kexin type 1 Gene [Source:MGI Symbol;Acc:MGI:97511]
Alleles
There are 5 alleles of this gene:
| Allele Name | Consequence | Status | Availability |
|---|---|---|---|
| sa9109 | Essential Splice Site | Mutation detected in F1 DNA | Not yet available |
| sa1558 | Essential Splice Site | Available for shipment | Available now |
Mutation Details
Allele Name:
sa9109
Status:
Mutation detected in F1 DNA
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:
T > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000014668 | Essential Splice Site | 135 | 755 | 3 | 14 |
| ENSDART00000147473 | Essential Splice Site | 135 | 754 | 3 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 10111527)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 11594890 |
| GRCz11 | 21 | 11687518 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGTRGACAAACTCTTCGATGACCCCATGTGGAAYMAGCAGTGGTATCTGG[T/A]GAGTCTTGTTGTYTTAATATTCCTTTGGCAAAAGTGGRATTTGGATTTCT
Long Flanking Sequence:
GCTCAGAAACACCAATGAGTATCAAACAGGGTAGACTTTTATCTGGCGTTTTTAATTGCATTTACAAACAGTAAATCATTCTTAAATATCAGATAAAAAGCTAAAAGGTTGTTTTTGTCATCATTGCACTGTAAAAACTATATGATCAATAAGTTCTGACAGCATATTTTTAGGTCATTGTAACTTATTGAACTTAGTTAATCATGTTCTAACTTAATTTTGTAAGTTAAGCAAGCTGTTTTAAGTCAGTTTAACATAATATAAGTTTAAATGACTCATAAGGTTAATTTGATTCAGCTTAAAAATGTAAGAAAACCAGGATTTTTTAACAGTGCTAACTGGTTGTGAATGCCACCCGTGGCTTCTTCCGTAGGTGTCTTGGGCCGAACAGCAGTATGAGAAACGGAGGGCCAAACGGGCGCCGCTGGGGGTCGAATGTAAGGACTGTTCAGTGGACAAACTCTTCGATGACCCCATGTGGAACCAGCAGTGGTATCTGG[T/A]GAGTCTTGTTGTCTTAATATTCCTTTGGCAAAAGTGGGATTTGGATTTCTCTGCATTATTTCAGATGTTGAAACGGAAAGTATTTTCTCCCATTCATGGTGTCCATTTAGGTGTAAATCTGGAATCAAAGCTAGATAAACTAACTTTAAAAGATTTTTGTTTCAAATGTTAGTAAATTTAAATAAAAAACTATAGATTATTGCTAAAAACGAAAACATTATAAAAATTAGCTATCCAAAAATTTTAGAGAGATGAGAGAAATCACTTCAGACTTCAGAGCTTTTTTGGCACAATTTAACTTCTAATTGTAAAAACAACTTATCCAGTTGTCCAAAAACTCTAGAAGCATAACAAAATTGACCATAAATCAGTTATTATAAATATAAAATACCATGCATATCAGTAGTTTGGCTACATAGGGTCTGACAACTGATCAACCATATTAAATGCTATTCACTCTTCAAAATAAAAGTCCTTTATTAGCAACAATTATTTAAAAA
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa1558
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
| Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
|---|---|---|---|---|---|
| ENSDART00000014668 | Essential Splice Site | 184 | 755 | 4 | 14 |
| ENSDART00000147473 | Essential Splice Site | 184 | 754 | 4 | 14 |
Genomic Location (Zv9):
Chromosome 21 (position 10123772)
Other Location(s):
| Assembly | Chromosome | Position |
|---|---|---|
| GRCz10 | 21 | 11607135 |
| GRCz11 | 21 | 11699763 |
KASP Assay ID:
554-1501.1 (used for ordering genotyping assays)
KASP Sequence:
TACTGGATGACGGTCTGGAGTGGAACCACACCGACATTTATCCAAACTAC[G/A]TAAGTGACACCTACTACAACTAGACTACTGGTATAGGAGGCCACAAACAA
Long Flanking Sequence:
ACACATACAAAGCTTGCACTCTCACTCCTGCTTAAATGGATCAATGATTTTCTTAACATCATACTTCAATCAAATGCTCTCTAATATCTGACATGGCTCGCCCCCTTCAAGCCACAATTGTTATATGCTCTTGAGCTCAACCACTCTCAATGGCAAATCTGTGATAAAAATTGACACGCTACTGGCTGTTTTATTTAAGTAGGAGGAGCTACTCTATGCCCCGCCCTGTTTTGATATTTTAGGTCATGTTACATCACACATTAAACAAAAAAAAAGCACATTTCAAAGCACTAATCACGGTACCTTTAAATAAATTGGGACACAGCATCAGTTTTCTCATTTTTGTTTTCCAGCAAGACACCCGGACATCATCATCCCTTCCCAAACTAGACCTGCATGTGATCCCCGTCTGGAAGAAGGGCATCACGGGAAAAGGAGTGGTCATTACTGTACTGGATGACGGTCTGGAGTGGAACCACACCGACATTTATCCAAACTAC[G/A]TAAGTGACACCTACTACAACTAGACTACTGGTATAGGAGGCCACAAACAAACCAAAAACAAAAGTAGCTATTTTGGATGTGAAAAATTTAACGTGTCCTATTTACACAACTCTGCAATGAGCCCAGCTTTACTTTTTTTTGCACTAGAGAAGACTTATGAATCATAGCATAATAGCAAACATCTGTCTCCTGTTAGGATTTGAGTAAAGCATGGCATCAGCTGTCGCTCGGCTTTTGGCTTGTTTACACACAGCAGTCTTATAAAAAAAAGCTTAAATTGAGACTTGTATATTTGATGGTATTAATGAAAAGACTGAAAATACTGAGCTTTCAGTGCAGAATAGCACTAAAATTAATTATTAATAAGGCATACATTGTTATTTGCATAAACTCATTAAATCTTAATGTTTTCAGGTCACTTTTTAAAAAAAAGAAAAAGTCATATAAATAAAATTAAACGTGTATAAATAAAAAATATATACTAAAGTAATAAAGATTAA
Associated Phenotype:
Normal
| Stage | Entity | Quality | Tag |
|---|---|---|---|
| Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |