Busch Lab

ZMP

vwa5b2

Ensembl ID:
ENSDARG00000075886
ZFIN ID:
ZDB-GENE-070912-216
Human Orthologue:
VWA5B2
Human Description:
von Willebrand factor A domain containing 5B2 [Source:HGNC Symbol;Acc:25144]
Mouse Orthologue:
Vwa5b2
Mouse Description:
von Willebrand factor A domain containing 5B2 Gene [Source:MGI Symbol;Acc:MGI:2681859]

Alleles

There are 7 alleles of this gene:

Allele Name Consequence Status Availability
sa38355 Essential Splice Site, Splice Site Mutation detected in F1 DNA Not yet available
sa2031 Nonsense F2 line generated Not yet available
sa19862 Nonsense Available for shipment Available now
sa720 Nonsense Available for shipment Available now
sa33014 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa38355
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:
G > A
Consequence:
Essential Splice Site, Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114163 Splice Site None 1239 None 24
ENSDART00000131592 None None 395 None 8
ENSDART00000136127 Essential Splice Site 46 85 1 2
Genomic Location (Zv9):
Chromosome 2 (position 45083066)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 49862274
GRCz11 2 45021565
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CATCACAGGTCATCTCACATATGTGAACACTGACCCTGAACCTGTGGAGG[G/A]TAAGAAATCATGCACACGCACACACACGCACACACGCACACACACACAAA
Long Flanking Sequence:
CCAGAAACGTATATAGGGCTACTTTTTCAGAATGAGACATTTTCTATGTTGCATTTTGTGGTCTGTGCTTAAAAAGTTGCCAACCAGTCATTTATTTTAAAACCTTGAGCTAAAATATACTACATTCCATTAGCAATGAGAAAAAAATTAGTTTTTGGCAACCATCCAAGGCCCTGACTATTTTCAAAGGGTAGTTAGTAATGAAGTAGCTTCACTATAATACTGACAAGTGTATCAAAGTCAACATTGTGATTAAATGATGCTTATTAATTATCATGCTTAATATTCTTAAGGGATCTTGTTGCTGACCTCCCCATAACAAGAATAATTAGCTTACACAGATGATTCTCTCTCGAGGAAAATGCCAGGGTTGAAAAACCGCACTACGTGGGTGCCACTTCTGCTGAAGACGTCCCAAATCTCCTCCTGTGCCAACGGCTGCTCACTGGGCATCACAGGTCATCTCACATATGTGAACACTGACCCTGAACCTGTGGAGG[G/A]TAAGAAATCATGCACACGCACACACACGCACACACGCACACACACACAAACACACACAAACACACACAAACACACACACACACACACACACACACACACACACACACACAATGAAAAATTACACTTTTTCCTAATTTACTTATAATAAGGAACAAGCAATTAATTGACTTTACATTTAAAAAGTGTGTAAAATCCATTGTCCTTACTTAAATTTCCTGGCAGTGTTTGATTGGCCTCAATGTTTCCTTACCGATGAACCTCTGATGAATGGTTAATGTGACTTTTTTCAATATTATACGGTTCCTTTTACAGCATTGATGTTGTAATGTAATAAAAATATAATCAGTTAAATAGACTTGAGCATTCATTTAGTTCACCTGAAGCCCTTTAACTGGGTTACTGAAAATTAAAAGTCATTCAGCATATACCCAATGTTCCCTTATTTTTAATTTATACTTACTATGTATGTGGGACTCTTATTTTAAAAACAAAATTGGCAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa2031
Status:
F2 line generated
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
ENSDART00000114163 Nonsense 142 1239 3 24
ENSDART00000131592 None None 395 None 8
ENSDART00000136127 None None 85 None 2
Genomic Location (Zv9):
Chromosome 2 (position 45077236)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 45162737
GRCz11 2 45015735
KASP Assay ID:
554-2567.1 (used for ordering genotyping assays)
KASP Sequence:
TTGAAATCGTGTCCGTTGTCATCAGCACTACCCTTGAACTTCCTACACTT[G/T]AAAATGGTGCAATCCGTCTGGTGTACCCGACAGTGCTCACGCCTTTAGTA
Long Flanking Sequence:
CAGATAAACAGACAGACAAGACAGATGGACAGACAGACAGACAGACAGAATAACCAGACAAATGCAGCATTGAGCAATTTCATTGTATTTCCACAGGATTGTGTCACTGCACACACTGCAGGTGTATTCGGTGTTCTTGTAAATCTTGTGTTCTCTCTTTATACTGCTTTGTACTTGTCCAGCCTGAGGTGTGCAGGCAGCATTCATTATACGAGAGAGCTGTGTTGGCTCTGTGCCTGCATTAACTCACACATATTTCAATTAGGTTTCAGAGCAGGCCCGAGTTTTAGTGCAAAAATACAGATTACTGGGGATAAATGATTTGCAATTTAAGAATTCTGAGAGATTTTTGTACCTGTTAATTGATTATTTTCAATTCAGGTCATCTGTTGCTGGACGAGGACCTGGAGAGGAGCACATTCATTGTGAGCACGGGCCAAATTGGACCTCTTGAAATCGTGTCCGTTGTCATCAGCACTACCCTTGAACTTCCTACACTT[G/T]AAAATGGTGCAATCCGTCTGGTGTACCCGACAGTGCTCACGCCTTTAGTAAGAGCAAGGGTCCAGCCTGGAAAAAGTGAAAATGGCACAAAATCAGAGGAGAACAGGTAAAACTGATCTTTTACTGTAACTAATAATAATCCCAGAAGACGTAAAAGGTATTTGGAAAAAAAGCTTTTTTCATTCAATCAAAATATTGTGTAATATGTGACCCTGCACCACAAAACCAGTCATAAGTGTCAGTTTTTATTGAGATGTATACATCATCTGAAAGCTGAATCATTAATGTAATGTAATCTGTATTTGTTTAGTGCATTTATTGTGTATGGCCATACACCCAAAGTGCTTCACAATGATCAGGGGTGGGTGTCTCTCCACACCACCACAACAAGCTTTGCATGCTTTGGATAGGGCAATATTTGGCTGTGATACAATTTAAAAATATGGAGTTTAAGGTTTTTTATCACCTTTAAATTTGCCTAAGTGAAGTGCAATGCACAT
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:
sa19862
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:
A > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114163 None None 1239 None 24
ENSDART00000131592 Nonsense 194 395 4 8
ENSDART00000136127 None None 85 None 2
Genomic Location (Zv9):
Chromosome 2 (position 45070301)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 45155802
GRCz11 2 45008800
KASP Assay ID:
2259-2588.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATCTTCCTCATTGACAACAGCAATACAATGACACAGCACAACATCAAC[A/T]AGATCAAGGTTCTGCAGACACTATACAGCACAATGACATGCGTTTTTTGT
Long Flanking Sequence:
GGCTCGGCGGGATTTCATTCGCTGTGCCCGAAAGGAGGCGGAGTCTGAGAAGAGAGTAAGGTTATTGGTATTTAACACTCCTGATAATCATTTGCAGTATTTTTTAGTTACTGGTGTGTACACACACTCAAAAATTGCTGTTTGTTTAAACTACTTTTTTAAATTGAGCTGAAACAACACACTTCTTGCTGTGTTTTTTTCTTATTGTTTTATGTTCAATCCACTTAAATTTGTAAAAACTAATGAGCTAACTTAATTCCTTCATGTTGTCCCAAAACAAATCAATTGAATGGAACCCAACCTTATAGTCTATATGAATGTGCTTTCCACAGCTGGAGTTTGTGCGGAGACGCTATCATAAGGATCTGCTCTTGAACCCCGTCCTGATGTTAAACTTCTGCCCAGACCTGCTGTCCGAACCAACAGAACTGCAGCAGGCCAGCAGAGAGCTCATCTTCCTCATTGACAACAGCAATACAATGACACAGCACAACATCAAC[A/T]AGATCAAGGTTCTGCAGACACTATACAGCACAATGACATGCGTTTTTTGTCAACATTTGAGAAAACTGGTGTTAGACAATTAATGGTTAAGGCCTTTTTATTTAATAACGTGAAAACTTTCATTACTTATTATATATCATTTTATTACTTATCTTGTAAAAAAAAAAGACTTATTACCAATTTAACATAAATTTTCCTCAACAGTAGAACCTAATACTGTATACACTGCTGCTGTTTGTTCAAACTACTTATTTATAATTAGCTGAAACAACACAATTATGGAGTTTTTATAAGGGAAAACTTGTTTTATGTTCAATCCACTTAAACGAGTAAAAACTAATAAGTTGACTTAATTCCTTCATGTTGTCCCAACACAAATCAGTTGTGTAGAACTCAGCATTTTTTTAACAGTGTAGTTTGATGCAGGTCAGTAGTTGATGCAAACACAGTTTTTGCTTAGTTGTAAATATAGAACATGATAGTAACACTTCACTTGCATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa720
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114163 Nonsense 581 1239 12 24
ENSDART00000131592 None None 395 None 8
ENSDART00000136127 None None 85 None 2
Genomic Location (Zv9):
Chromosome 2 (position 45059619)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 45145120
GRCz11 2 44998118
KASP Assay ID:
554-0628.1 (used for ordering genotyping assays)
KASP Sequence:
GTATYAGCAGGATTGTAMGTGGGGTGAATCTTCACCTCAAKACCACGACT[T/G]AGGYGATTCTATTAAGCAAGGCACTGAACCCCCCACCGCTCCGAGTGTGT
Long Flanking Sequence:
GTAAATGTTCAATTATGTTTAATAAATGCTGTACAAGTGTTGTTCATGTGATGTTCATGTTAGTAAATGCATTAATTAATGAACCTTATTGTAAAGTGTTACCAAGCAGGCAAATATGCGGTTATCAGACCAAAGGGGTTACATTGGTGCCTTGACAGATGCTAGAGGACTGGTGGGCTTTAGCTTGTTGTAGCCAGTAATATATTACAATCTAGAGTCACTTTAAATAATAGCTAAATGTGTTACTTTTAAAGTTAAGCAATGTGAAAATATGCCTGTTATTTTCTGCATTTAATTTTTTTTTTTTTTTAAGAATAAGATCTTAAAATTGAAATGCATAACTTTTTACACTGGTTGGTGCACACATATCCCATCCTGGAATCCTAAATCTAGATGGTCTTAATGGTTAGAGTCGGATTTGGGATCCAAATGTCACAAGTTCGAGTACTGGTATTAGCAGGATTGTACGTGGGGTGAATCTTCACCTCAATACCACGACT[T/G]AGGCGATTCTATTAAGCAAGGCACTGAACCCCCCACCGCTCCGAGTGTGTGTTCACAGGGTTTAAGGATAAAGCGTCTGCTAAATGCACAAATGTATTGTAATATAAATGCAAATGTAAATGCAATGGGCAGGTGGGTGTTGGACCGTAGGGGTTATGTTGGTGCCATGACCCAGATGGGAGTGAGATTTAGGGGGATAAGTGTAACTCAGGCCAGCTGGTGAGTGCTCAGTCCAAACCTTACTCCCCTGATGTCTAGAGGAGCATTCTCTATAGTGTCAGGCACTAAATGCTGTGCTTTCAGACTCTTCATCTTGTCTGCATTGCTAGAATTGCCAGATCGAGCCTTGCCTAGAGCAGGTGGGGGGTGTCAGACAGCACCACACTTACGTTCTGGTCTTCTCTATTCGCCTTTTTCCTGTTACCCATGATACTTTGCTTGAATTATGAGAACAAACTCCAACAAACTGTAAAAAAAATCAGAGAAAGTGTTTTTTAAGG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33014
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 > G
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114163 Essential Splice Site 732 1239 17 24
ENSDART00000131592 None None 395 None 8
ENSDART00000136127 None None 85 None 2
Genomic Location (Zv9):
Chromosome 2 (position 45053451)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 45138952
GRCz11 2 44991950
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
ACTGATATTTTTATATGTAAAACTCACTGGTACTCTGTGCATGTTTCTGT[A/G]GGCGGGGAAGCTTTTGGATGAGTCTCGCCGGAGGCAGAAGGCTTTGGCTC
Long Flanking Sequence:
TATGCTGTCAAGTTAGTTTTTTGTCTAATAAATGACATTAAGCTACAGTTTTTTTTACTTTAAAACTTTAACAGATTCCTATTTTTCCTAATGATATATGATGTAATAAATTACTATTTAAAAAATGTGTCGTTTAATTTTTGTCTTTTTTTAGGAAATATTTTTAGTACATCAAAAAGTGTGGTTATGATGACATCTGACTAGCTAATCCAGCAAAAAAAAAGTCACTAAAATGCAGTATTTAAATCTCATAGTTAAATAGAAACTGAGGTGTATAACTGCAAAAAGGTCCACTTTTGAGAAAAAAAGAACCACCCCTTTCACCAGGCTGGCTACGGGCCTGACCTTTAAGTTATGTACAAACTAATATAGACTAGAGCACCTATTATTATTTAAATCAACACACATGGACAACAAATTATAAATGCTTCTATTTTTATTTTTTTGCAAACTGATATTTTTATATGTAAAACTCACTGGTACTCTGTGCATGTTTCTGT[A/G]GGCGGGGAAGCTTTTGGATGAGTCTCGCCGGAGGCAGAAGGCTTTGGCTCGCTCTGCTCTGGCGGGCCGGAGTTTCTCTTCACCACAGGGTGACCTGGACATGCACCGCCTGAGGAGGGCACTAGAGAGGGTCTCATTTGAGCAGGCTGTCGGGGGCCGCCTGGAGGAGAGTGACACAGAAACACACAGCGCTTCACGAGGAGGACTTTCCGGACCCAGTCTCACAGACTCCAGTGAGGGAAACACTCACTTTACTAAACTACACTACATAATGGAGCATGGAGTACACAAATAATGTAAATACAGTAAATGTACAGTGTCACTTTATTTTGATGGTCGCTTTAACACATTTTGTGAATTGTAACTTACTTCCTAACAGATGAAAATCTGCCCCTGTTTTTGAGGCTGTTTAGTCACTTCATTCTTTTTATTCTGATCGGATATAAATCCGATCGCTCAAACCACTTCAGAAGGTGATCTGGGATGCATTCCGGAGTTTC
Associated Phenotype:
Not determined