Busch Lab

ZMP

pcsk5a

Ensembl ID:
ENSDARG00000067537
ZFIN ID:
ZDB-GENE-060531-130
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
sa8843 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa20536 Essential Splice Site Available for shipment Available now
sa33720 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa38507 Essential Splice Site Mutation detected in F1 DNA Not yet available
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:
sa8843
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:
A > T
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 55870669)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 54655339
GRCz11 5 55278175
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TAATAAAGTGTAMAGTGTGCACTACACTGTAWTTTCAKTGGCTGTTTTGC[A/T]GTTAGTCACCTTTATGGRTTTGGGTTGCTGAATGCTGAGGCCATGGTGAA
Long Flanking Sequence:
GAGGGACATTCAGCACATCATAGTTAAAACTTCAAGCCGTGGTCACCTCAGTGCTTCTGATTGGCAGAGCAATGGAGCTGGATATGATGGTAGACTAAACATGGATAAACATTACGCAAAACATTGATGTGTCAAATAAAATAATGCTCATATCTAAAACCATTTTAAGGGTTCATCATTTAGTTTTGATGGAAAAAATCTTAAGAATCTAAAGTAAAATCGAAAGGATTTTAAAAATTATAAAAAACCTCTTGCATACAAGATTTTTAACAGTTTGTGGATCAAATATGATAGGCTACAGTATGTTTATATAGTTAAATAACATTACTTATTATTAGTACTGAATGGAGTCAAGGCATCTACCAATAAAGGCTTAAAATCATACATTTAGTATACATAAGGTAGTGCATGTGATGTGAAAATCAATCATTGACTATACAGTTGTAAGTGTAATAAAGTGTACAGTGTGCACTACACTGTATTTTCATTGGCTGTTTTGC[A/T]GTTAGTCACCTTTATGGGTTTGGGTTGCTGAATGCTGAGGCCATGGTGAAGAATGCAGAGACCTGGAAACAAGTGCCTTCTCAACACATATGCGAGGAAAACATAGGCCAAAATGCCAGGTACAGTAGCTGTCTGATCATACTGAAGATTCTAAACTACTTTATATTTCTCATAAAACAGTAGTATATTGATAATACACAAGAACCTACGAGAAACACCACAAGAAATTTCTGAAATCAATACTTCTTTTAATTTTATGTTAGGATCATCAGTCCGGAGCGAGTGCTAAGGTCAGTGTTGAAATCCTCAGGCTGCTCTGCTCAGCGTCTGCAGCGGGTGGTTTATCTGGAGCATGTCATTGTACGTGTCACAATCACACATCCTCACCGTGGAGACCTGTCAATCACATTGACATCACCTTCTGGAACTACATCTCAGCTTCTAGCAAACAGGTACTAGTATGTTGTGCTATGCTTGTGCATGCCCAGAAATGTATGAAT
Associated Phenotype:
Not determined

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.
Availability:
Order Allele From ZIRC
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:
sa33720
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:
A > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085314 Essential Splice Site 797 1821 20 37
ENSDART00000131060 Essential Splice Site 818 1093 20 27
Genomic Location (Zv9):
Chromosome 5 (position 55877611)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 54662281
GRCz11 5 55285117
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCATTTATCATCATCCTGTCACTTTTTTTTTCAAGATTGTCCATTTGTGC[A/T]GGTGTGATGCAAGCTGTCTGGCTTGTGTCGGGCCAACTAAAACAAACTGC
Long Flanking Sequence:
TCTTAGGACTTGTAGGGGAAACCAGAGCACCTGAAGGAAACCCATGTGAACATGGGGAGAACATGCAAACTCCACACATAAATGGCAACTGACACAGCCGAGGCTTGAACCAGCGACTTTCTTGCAGTGGTGCGACATCACTACCCACTGCGCCACCACGTCCCCCAGAATTATCATTTAAAACATAAAAAATTAAAAACAATTAAAAACAACTTTTTTCTTTCTTGATCACACATTTAAACACATATATGTAAGTTTGTTTTTTGTATGAAATATTTTTGGTTCATGTCTCTGTATAGCTGCAGGTCTGGAGTCATGTAATCGTTGTGCTGAAGGCTACCTGATGGAGAACTGGAGATGTGTGTCCTCTTGCAGTCAAGGTTTCTACGCAGAACAACAGAACTCGGACAATCAGAGCACCTGTAAAAGGTATGTGTGCTACATCCTCCAGCATTTATCATCATCCTGTCACTTTTTTTTTCAAGATTGTCCATTTGTGC[A/T]GGTGTGATGCAAGCTGTCTGGCTTGTGTCGGGCCAACTAAAACAAACTGCAGTGAGTGTGTAGACGGACATTCACTTCAGGATGGTGTCTGTGTTCTCAGCCACAACTGTGGCGATGGTAAGTTCTAGTTCTTCTTGTATGAAACCTATTGATGCAAAGAACAATAAAGTTGATGTTTCAGGTAAAACTACAACATACTTGGTTTGTGTTTCAGGGGAATATCAGGATGAGAGTGGAGAGTGTCAGTCATGTCATGTGTCCTGTCAGAAATGTAAAGGTCCACAGAGTGAGGACTGCCTCAGCTGCTTCATTACACAGTAAGACTTTTTTTAAGGATTACTTTCAGGATGAAAAGCTCATGACTGCTACAAAGTTATTGCCTGATGGGTCAGAACAAGACAGTGGAGCTGAAAGTACCATTTTTCATAAAACCTATTTTAAAAGATAACGTTTTAGACTGTGACGCGGTGACACAGTAAGTAGTGCTGTCGCCTCGAGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38507
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000085314 Essential Splice Site 916 1821 22 37
ENSDART00000131060 Essential Splice Site 937 1093 22 27
Genomic Location (Zv9):
Chromosome 5 (position 55882411)
Other Location(s):
Assembly Chromosome Position
GRCz10 5 54667081
GRCz11 5 55289917
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GCCCAGTGTGTTGATGCTGGTCCTTCTAACTGTACCAGCTGTGATACAGG[T/G]CAGTATGCATGTTTTCCCAGTAAATAAGTAAGCCCTAATGTGTGTGACCG
Long Flanking Sequence:
ATTGCGGTCATCCTGTCTTTTGATGTCTGTGTTAAACTACATGAAACCAAAAAGCACAGTAGCAGGATCCAACTAAACATTATAATCACTTTGTGATTTCAAATGAATATTAGCTTCAATAAAGCGTCAGCATTAACTATGTTTTACATAAATATTACTAAATTTCAATGTACTTAACAGCTATGCATTCTGAACAAAATACTATTTTTACTTTCATTTTTGTTGCAAAAGATGATGTAGATTTGTGATGAAGGACAACCAATTGTTATTTAATGTTCTGTTATGTTGGAATATAATAGAGTTCCTGTTATGTCTATCTTGGTTAGTTGCTAATAAGTACATTTCCTTTCCTGTTTTTGTAGTTTGCTGGATTATGGTCAGTGTGTCGTCAGCTGCTCAAATGGGAAGTACCCTTCAGGTGGACAATGTCACCTTTGTGATCACACCTGTGCCCAGTGTGTTGATGCTGGTCCTTCTAACTGTACCAGCTGTGATACAGG[T/G]CAGTATGCATGTTTTCCCAGTAAATAAGTAAGCCCTAATGTGTGTGACCGCTACCGTTCTTTAAATTTGCATTAATTAATTTCTGATGAATAATTTTGATATTAAAATTGAGCAACTAAACAAAGACCCAAGCTCAATACGAATACATACCTCCCTGTATTTCACTACCCTCAAATTCACAACACACCGTGTTGCCGTGGGGAGCAAATTTCGGGAGTCTCCCACAAATGCATAGAGACTCCGGGATGCCCGCAAACGAATCTTAATCTTCCGGAAATCGCGCGTCTCCCCCCGGTCCTTAAATACCTTGCACACCCCTCTTTACCGCATCCCTTCCAGCTCTTCAGATACGTTCACTACGTAGGGCACAACTCTCCCCCACCACTCAGGTACATCGCATGCACTTGTGTCCACCACTCTTCAGAGCTGGAACAGCATTCAGATAGGCAATTCCTACAGATTTGAACAGGGCAAAACATATCACTGAAGCGATCGATACA
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
Order Allele From EZRC
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.
Availability:
Order Allele From ZIRC
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