ZMP
pcsk5a
Ensembl ID:
ZFIN ID:
Description:
Novel protein similar to vertebrate furin (Paired basic amino acid cleaving enzyme) (FURIN) [Source:
Human Orthologue:
PCSK5
Human Description:
proprotein convertase subtilisin/kexin type 5 [Source:HGNC Symbol;Acc:8747]
Mouse Orthologue:
Pcsk5
Mouse Description:
proprotein convertase subtilisin/kexin type 5 Gene [Source:MGI Symbol;Acc:MGI:97515]
Alleles
There are 7 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa20536 | Essential Splice Site | Available for shipment | Available now |
sa14669 | Essential Splice Site | Available for shipment | Available now |
sa9667 | Nonsense | Available for shipment | Available now |
sa397 | Nonsense | Available for shipment | Available now |
Mutation Details
Allele Name:
sa20536
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 |
---|---|---|---|---|---|
ENSDART00000085314 | Essential Splice Site | 404 | 1821 | 11 | 37 |
ENSDART00000131060 | Essential Splice Site | 425 | 1093 | 11 | 27 |
Genomic Location (Zv9):
Chromosome 5 (position 55870670)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 54655340 |
GRCz11 | 5 | 55278176 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AATAAAGTGTACAGTGTGCACTACACTGTATTTTCATTGGCTGTTTTGCA[G/A]TTAGTCACCTTTATGGGTTTGGGTTGCTGAATGCTGAGGCCATGGTGAAG
Long Flanking Sequence:
AGGGACATTCAGCACATCATAGTTAAAACTTCAAGCCGTGGTCACCTCAGTGCTTCTGATTGGCAGAGCAATGGAGCTGGATATGATGGTAGACTAAACATGGATAAACATTACGCAAAACATTGATGTGTCAAATAAAATAATGCTCATATCTAAAACCATTTTAAGGGTTCATCATTTAGTTTTGATGGAAAAAATCTTAAGAATCTAAAGTAAAATCGAAAGGATTTTAAAAATTATAAAAAACCTCTTGCATACAAGATTTTTAACAGTTTGTGGATCAAATATGATAGGCTACAGTATGTTTATATAGTTAAATAACATTACTTATTATTAGTACTGAATGGAGTCAAGGCATCTACCAATAAAGGCTTAAAATCATACATTTAGTATACATAAGGTAGTGCATGTGATGTGAAAATCAATCATTGACTATACAGTTGTAAGTGTAATAAAGTGTACAGTGTGCACTACACTGTATTTTCATTGGCTGTTTTGCA[G/A]TTAGTCACCTTTATGGGTTTGGGTTGCTGAATGCTGAGGCCATGGTGAAGAATGCAGAGACCTGGAAACAAGTGCCTTCTCAACACATATGCGAGGAAAACATAGGCCAAAATGCCAGGTACAGTAGCTGTCTGATCATACTGAAGATTCTAAACTACTTTATATTTCTCATAAAACAGTAGTATATTGATAATACACAAGAACCTACGAGAAACACCACAAGAAATTTCTGAAATCAATACTTCTTTTAATTTTATGTTAGGATCATCAGTCCGGAGCGAGTGCTAAGGTCAGTGTTGAAATCCTCAGGCTGCTCTGCTCAGCGTCTGCAGCGGGTGGTTTATCTGGAGCATGTCATTGTACGTGTCACAATCACACATCCTCACCGTGGAGACCTGTCAATCACATTGACATCACCTTCTGGAACTACATCTCAGCTTCTAGCAAACAGGTACTAGTATGTTGTGCTATGCTTGTGCATGCCCAGAAATGTATGAATC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa14669
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 |
---|---|---|---|---|---|
ENSDART00000085314 | Essential Splice Site | 1020 | 1821 | 25 | 37 |
ENSDART00000131060 | Essential Splice Site | 1041 | 1093 | 25 | 27 |
Genomic Location (Zv9):
Chromosome 5 (position 55908146)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 54692816 |
GRCz11 | 5 | 55315652 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTACAGATAATCCAAAACACTGTCTATCCTGCATTAATGGATATTACAGG[T/C]AAGAATATTTGAATGTCATAACAAAACTATCCAATTATACAAATTTCTGG
Long Flanking Sequence:
AGGCAGGTAATCCAAAGCGTGGTCAGAAAAACAGGCGATTGGTCGGGACAGGCAGCAAAACAGCATAAAACAACACAGTAGACAGGACAAGAAAATCAGGGAATCTGGAACTGGTGTGTGTGAGGTGCGTAACGGGAGTTGTAGTTCATTGAACTGGCAGATGTGTAGTTTTTCAGCATTCTGAACAGGCTAGGTCACTGGTCATTGTATAATCTCCAAGCACTATGTCTTGCTATGACAATCAAAACAAATGCAATGTAAATATTCTTAAAAAGCACTCTAAAAGTTTAAATAATAGTTACTCACTGTATTTTAGAGTGCTCACAATATAAAAATTGTGCATGTTCATTATAAAAAATATATATATTAAATTATTGAATATTGGCATATGTCTAATTGTTGGGTACAAATTGTTTTGACTTTTTGATAATATGCTGTTTCTTCTATGTTTTACAGATAATCCAAAACACTGTCTATCCTGCATTAATGGATATTACAGG[T/C]AAGAATATTTGAATGTCATAACAAAACTATCCAATTATACAAATTTCTGGTGTTCAGAGATGTTAGTGAAATGCATATGTGTTTAACAGGTTTGAGGAAAGCTGCTACAAAAATTGTCCCTCTAAGACATACCCAGTGGAGGAGACCATGAGCTGTGTGTCCTGTGAACATGACTGTGTCAACTGTGATGAAGATGAGTGCAGCTGGTGTGAAGCTGACTTCTTCATATCAAGTGAGACACTGAGTTTTATATGGAACTCAGTTTCAATCTATATTTAAGTTTTGTTTTGTTTTTTTTTAGAAAGATGAGTGTCCACCTTTTCTTCAGACAGCACAGATCTGCATGATTTGACTGTCACCTGCCAATTTAGTGGATCTGAAACAGGAATTATCTGACTGAAATGGGCTTATAAAGGAATAATGTAACGGGACTCTATTACAGTTAGCATTTTCTTAAAACTCAAAATTTCCACAACCGACTGATCTCTCATATGCACAGC
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa9667
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085314 | Nonsense | 1132 | 1821 | 27 | 37 |
ENSDART00000131060 | None | None | 1093 | None | 27 |
ENSDART00000085314 | Nonsense | 1132 | 1821 | 27 | 37 |
ENSDART00000131060 | None | None | 1093 | None | 27 |
Genomic Location (Zv9):
Chromosome 5 (position 55911068)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 54695738 |
GRCz11 | 5 | 55318574 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GACAATGGAGCTTGTGTATCTGAACAGGATGTTTGCCCTGCACAGATGTA[T/A]CTCACWGGTAAGATATGGWGTCAATCTAGGGTCATAATAAGAGAACAAAC
Long Flanking Sequence:
TTAGCCCATGAGATCTTTTTCAGAACGTAGTCTTCTTAAAGTTGAATTTTGTATCAACTGTTTACACTTGAATAGGCTTTATAATTTCTAGATGTCCTTCTGTGCATCATGAATTCAAAATTATTTTGCTTGGGGTGTAAAGAACACAATTTAACCAAAGAAACTGGTATTTTTTGTCTTAGAGTGCAAGTTAAATTGTTAGTTATTTAGCTTTATCTGCATTTAAAGTAGTGTATATAGACCTCTAAATTTGTAATGAATTTGACAATCTTTTCATGGTTTTTCACAATCTCCATGTATCCTACAGATGGGAAATGTGTTCGTGAATGTCCAGATGGGTTCTATAATGATGACGAATCTCAGGAGTGTGAGGAATGCCACTCAGACTGCAAGACATGCAGTGGCCCGGAGGACAGTGACTGTGAAAGCTGCAGCGAGGGACTGACGCTTGACAATGGAGCTTGTGTATCTGAACAGGATGTTTGCCCTGCACAGATGTA[T/A]CTCACAGGTAAGATATGGAGTCAATCTAGGGTCATAATAAGAGAACAAACATATGTAATTTCATTAGAATATTAAGTATTTTCCTTTATAAATATATCAAAACCTTTTGATTAGTAATGCATATAAACTTGGTAACAATTTATTTTGATGGTCCATTTGAGTATTAGTAGACTGTGCTTAATATCTGCTGATACTGTTGTTACGAACTCCAGTTTTTAAGGCTCGTCTAGGGAAGGGGTTAGCAACATAAAAAGACACAGAAACCAGAAATACAATTCTCTATTTATTTAGAGACCAGAATATAGGTGTCCTAATTAATTAAGGTGGCAACAGAAATATAAAATCATTAATTAAACAATATCCAAGTCAAAGCAATTACTTAAACAAAACATAAATCATAAAGAAAATATTGATAAAAAACATAGATCAAAGAAACGGCACAACACCAGCATGGCTCCTCAGCAGCGGGCCAGCGGCTGCACAAAACGTGCACAGAAGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa397
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000085314 | Nonsense | 1132 | 1821 | 27 | 37 |
ENSDART00000131060 | None | None | 1093 | None | 27 |
ENSDART00000085314 | Nonsense | 1132 | 1821 | 27 | 37 |
ENSDART00000131060 | None | None | 1093 | None | 27 |
Genomic Location (Zv9):
Chromosome 5 (position 55911068)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 5 | 54695738 |
GRCz11 | 5 | 55318574 |
KASP Assay ID:
554-0259.1 (used for ordering genotyping assays)
KASP Sequence:
GACAATGGAGCTTGTGTATCTGAACAGGATGTTTGCCCTGCACAGATGTA[T/A]CTCACAGGTAAGATATGGAGTCAATCTAGGGTCATAATAAGAGAACAAAC
Long Flanking Sequence:
TTAGCCCATGAGATCTTTTTCAGAACGTAGTCTTCTTAAAGTTGAATTTTGTATCAACTGTTTACACTTGAATAGGCTTTATAATTTCTAGATGTCCTTCTGTGCATCATGAATTCAAAATTATTTTGCTTGGGGTGTAAAGAACACAATTTAACCAAAGAAACTGGTATTTTTTGTCTTAGAGTGCAAGTTAAATTGTTAGTTATTTAGCTTTATCTGCATTTAAAGTAGTGTATATAGACCTCTAAATTTGTAATGAATTTGACAATCTTTTCATGGTTTTTCACAATCTCCATGTATCCTACAGATGGGAAATGTGTTCGTGAATGTCCAGATGGGTTCTATAATGATGACGAATCTCAGGAGTGTGAGGAATGCCACTCAGACTGCAAGACATGCAGTGGCCCGGAGGACAGTGACTGTGAAAGCTGCAGCGAGGGACTGACGCTTGACAATGGAGCTTGTGTATCTGAACAGGATGTTTGCCCTGCACAGATGTA[T/A]CTCACAGGTAAGATATGGAGTCAATCTAGGGTCATAATAAGAGAACAAACATATGTAATTTCATTAGAATATTAAGTATTTTCCTTTATAAATATATCAAAACCTTTTGATTAGTAATGCATATAAACTTGGTAACAATTTATTTTGATGGTCCATTTGAGTATTAGTAGACTGTGCTTAATATCTGCTGATACTGTTGTTACGAACTCCAGTTTTTAAGGCTCGTCTAGGGAAGGGGTTAGCAACATAAAAAGACACAGAAACCAGAAATACAATTCTCTATTTATTTAGAGACCAGAATATAGGTGTCCTAATTAATTAAGGTGGCAACAGAAATATAAAATCATTAATTAAACAATATCCAAGTCAAAGCAATTACTTAAACAAAACATAAATCATAAAGAAAATATTGATAAAAAACATAGATCAAAGAAACGGCACAACACCAGCATGGCTCCTCAGCAGCGGGCCAGCGGCTGCACAAAACGTGCACAGAAGTT
Associated Phenotype:
Normal
Stage | Entity | Quality | Tag |
---|---|---|---|
Larval:Day 5 ZFS:0000037 |
whole organism ZFA:0001094 |
quality PATO:0000001 |
normal PATO:0000461 |