Busch Lab

ZMP

si:ch1073-188c16.3

Ensembl ID:
ENSDARG00000093079
ZFIN ID:
ZDB-GENE-081103-54
Description:
Novel coagulation factor [Source:UniProtKB/TrEMBL;Acc:B8JLG2]
Human Orthologue:
PROC
Human Description:
protein C (inactivator of coagulation factors Va and VIIIa) [Source:HGNC Symbol;Acc:9451]
Mouse Orthologue:
Proc
Mouse Description:
protein C Gene [Source:MGI Symbol;Acc:MGI:97771]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa43 Nonsense Confirmed mutation in F2 line Not yet available
hu3567 Essential Splice Site Confirmed mutation in F2 line Not yet available

Mutation Details

Allele Name:
sa43
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000132496 Nonsense 65 427 4 10

The following transcripts of ENSDARG00000093079 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 5117286)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 5551879
GRCz10 2 5563014
GRCz11 2 5463761
GRCz11 2 5474896
KASP Assay ID:
554-0136.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
AGCCGGCATCGCTGGAGCGGGAGTGCAGAGAGGAACTGTGCGATTTCGAA[G/T]AAGCAAGAGAAATCTTTATAACAAGGGAGGCCACGGTTGGTCAGCTTTTA
Long Flanking Sequence:
ACAGGGTCTGTTGCCATAATGAGGAGTCTTTTCTTCTGTGCCTTAACTCTGGTTGTTTTTTGTTCTGATGGGGCTCTTTGCAAGTCAGGTATGAGGTCAATAAAAACAGCCATGTATAAGAGGAGCTATTATGTTTAGAAATTTTAAATGTACTTTAATAAATTTTATTTATATACATGTATTCAATTTTAAACAGATTTTATTGGCACAGCTCTATATTACTCGCATTTGAACCATTACCTGAAATTTACAAATAAACTGCAAGATTAACAGGAGATGAAAGATTAACAGGAGATGAAAACTTTTAAAGCATTAATAAATACTGGGAAACCCACATTGAGTGCTCTCCCCTATTAACCCTGTGTCTGTTTTGGTCAGTATTTTCTAGCAGCCCAAACGCACATATGCTGCTCCGTTCAAGAAGAGCCAACACTTTCATGGAGGAACTCAAGCCGGCATCGCTGGAGCGGGAGTGCAGAGAGGAACTGTGCGATTTCGAA[G/T]AAGCAAGAGAAATCTTTATAACAAGGGAGGCCACGGTTGGTCAGCTTTTAACTGTTCTTACGCACTTTTGCTCTTAATTATGATCTATTTACTGAGTTCTTCATCCTGCAGCTGGAATTCTGGACGGCATATAAAGGTTAGTTCAGTCTGTGCTGTGGTGTAGCTTTGCAAGTGCGTCATAACTCATTGGGTTTTCTTTACTTTCAGATGGAAACCAGTGCACCACAAATCCGTGTGTTCATGGCAAGTGTGTTGACCTGTTGCAGGATTTCTCCTGCACCTGCGACTCTGGATTTGAAGGGAAACATTGTGACCTCCGGGAGCATTTTTATGTGTTATTCACTTTACATATTCAAAAAAAAAAAAAAAAAAAAAGGAAATATTTGCCTTTACATCATCTGAACAGTTTTGAAATATTGTCGAAATATTGTTTCATTAATTTTTGCTTTAATGCTTCAAAATCCTAAAACATTTGTATGTACGGTATTTATTTTGGTTTA
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461

Mutation Details

Allele Name:
hu3567
Status:
Confirmed mutation in F2 line
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000132496 Essential Splice Site 84 427 5 10

The following transcripts of ENSDARG00000093079 do not overlap with this mutation:

The following genes are also affected by this mutation:

Genomic Location (Zv9):
Chromosome 2 (position 5117149)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 5562877
GRCz11 2 5474759
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ATTTACTGAGTTCTTCATCCTGCAGCTGGAATTCTGGACGGCATATAAAG[G/A]TTAGTTCAGTCTGTGCTGTGGTGTAGCTTTGCAAGTGCGTCATAACTCAT
Long Flanking Sequence:
GAAATTTTAAATGTACTTTAATAAATTTTATTTATATACATGTATTCAATTTTAAACAGATTTTATTGGCACAGCTCTATATTACTCGCATTTGAACCATTACCTGAAATTTACAAATAAACTGCAAGATTAACAGGAGATGAAAGATTAACAGGAGATGAAAACTTTTAAAGCATTAATAAATACTGGGAAACCCACATTGAGTGCTCTCCCCTATTAACCCTGTGTCTGTTTTGGTCAGTATTTTCTAGCAGCCCAAACGCACATATGCTGCTCCGTTCAAGAAGAGCCAACACTTTCATGGAGGAACTCAAGCCGGCATCGCTGGAGCGGGAGTGCAGAGAGGAACTGTGCGATTTCGAAGAAGCAAGAGAAATCTTTATAACAAGGGAGGCCACGGTTGGTCAGCTTTTAACTGTTCTTACGCACTTTTGCTCTTAATTATGATCTATTTACTGAGTTCTTCATCCTGCAGCTGGAATTCTGGACGGCATATAAAG[G/A]TTAGTTCAGTCTGTGCTGTGGTGTAGCTTTGCAAGTGCGTCATAACTCATTGGGTTTTCTTTACTTTCAGATGGAAACCAGTGCACCACAAATCCGTGTGTTCATGGCAAGTGTGTTGACCTGTTGCAGGATTTCTCCTGCACCTGCGACTCTGGATTTGAAGGGAAACATTGTGACCTCCGGGAGCATTTTTATGTGTTATTCACTTTACATATTCAAAAAAAAAAAAAAAAAAAAAGGAAATATTTGCCTTTACATCATCTGAACAGTTTTGAAATATTGTCGAAATATTGTTTCATTAATTTTTGCTTTAATGCTTCAAAATCCTAAAACATTTGTATGTACGGTATTTATTTTGGTTTAATGCTCGCGCTGAGCATTAAATGCTGTCGACCAATCGCAACAGACTGACATCGGTCCAATCAGCGCAGATTAGCTTTTCTCTAAGGAGGGGTTTGGGAACAAATGAATCACTGAACGAATCATATGGGAGTCGTTGG
Associated Phenotype:
Normal
Stage Entity Quality Tag
Larval:Day 5
ZFS:0000037		 whole organism
ZFA:0001094		 quality
PATO:0000001		 normal
PATO:0000461