vwf

Ensembl ID:
ENSDARG00000077231
ZFIN ID:
ZDB-GENE-070103-1
Human Orthologue:
VWF
Human Description:
von Willebrand factor [Source:HGNC Symbol;Acc:12726]
Mouse Orthologue:
Vwf
Mouse Description:
Von Willebrand factor homolog Gene [Source:MGI Symbol;Acc:MGI:98941]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10088 Nonsense Available for shipment Available now
sa270 Nonsense F2 line generated During 2018
sa10698 Nonsense Available for shipment Available now
sa36563 Nonsense Mutation detected in F1 DNA During 2018
sa43038 Nonsense Mutation detected in F1 DNA During 2018
sa36564 Nonsense Mutation detected in F1 DNA During 2018
sa39187 Nonsense Mutation detected in F1 DNA During 2018
sa32187 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa10088
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 468 2812 11 51
ENSDART00000134872 Nonsense 454 2059 10 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6250602)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7205703
GRCz11 18 7164665
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TAAACAYGGGGGAGTGGTCTCTGTTGATGGAATGGATGTGCAAACACCCT[T/A]AATTAATGGTTTGTCAASATGYAATAATGCATACATAATTCACACTGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa270
Current Status:
F2 line generated
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 597 2812 14 51
ENSDART00000134872 Nonsense 583 2059 13 34
ENSDART00000142905   None 444 None 11
ENSDART00000114690 Nonsense 597 2812 14 51
ENSDART00000134872 Nonsense 583 2059 13 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6253836)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7208937
GRCz11 18 7167899
KASP Assay ID:
554-2783.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCTCCATGAAGTTCGAACCCTGTCATKATATGGTGAACCCTGAGCCGTA[T/G]GTGAAGAACTGCCGCTATGATGTGTGCGCATGCGCAGATGGTCAGGAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10698
Current 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
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 597 2812 14 51
ENSDART00000134872 Nonsense 583 2059 13 34
ENSDART00000142905   None 444 None 11
ENSDART00000114690 Nonsense 597 2812 14 51
ENSDART00000134872 Nonsense 583 2059 13 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6253836)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7208937
GRCz11 18 7167899
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTCTCCATGAAGTTCGAACCCTGTCATKATATGGTGAACCCTGAGCCGTA[T/A]GTGAAGAACTGCCGCTATGATGTGTGCGCATGCGCAGATGGTCAGGAGTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36563
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 977 2812 21 51
ENSDART00000134872 Nonsense 963 2059 20 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6264075)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7219176
GRCz11 18 7178138
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
ACATCTCAATTACATGGGACACGGGAACCCGAATCTCCCTGCAGATCAGC[G/T]GACAGTACAGGGTAACACACATTCATACACATGTATCAAATTAACTAAAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43038
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 1308 2812 27 51
ENSDART00000134872 Nonsense 1294 2059 26 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6269799)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7224900
GRCz11 18 7183862
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCTCACACTCGCGCCACAGTCCTCCTCTTCCACTCTGGGGTGAAAAGTTA[C/A]GACATGCAAGTGCAGAAGTGGATCTTCAAGAAGATGGTGCGCGAGATGCG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa36564
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 1632 2812 27 51
ENSDART00000134872 Nonsense 1618 2059 26 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6270769)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7225870
GRCz11 18 7184832
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGAGCTCCACTCATAAGAAGATCTATCCGATCGGGATCGGCCGAAAAATT[C/T]GATATGAGGATCTCGCACTGTTGAGCTTTCCGGATAAGCCAATCATGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa39187
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2018.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Nonsense 1855 2812 31 51
ENSDART00000134872 Nonsense 1841 2059 30 34
ENSDART00000142905   None 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6274313)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7229414
GRCz11 18 7188376
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CACTCGCAGGCCCACAGGCTCAGGAAAACGTCATTCTGCTCGGCAGCACA[G/T]AGTATCTGCTTTCCATGGCTGCGTTTGACCAGTCCTTCCCTGACAAACTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32187
Current 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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000114690 Essential Splice Site 2488 2812 None 51
ENSDART00000134872   None 2059 None 34
ENSDART00000142905 Essential Splice Site 272 444 None 11

The following transcripts of ENSDARG00000077231 do not overlap with this mutation:

Genomic Location (Zv9):
Chromosome 18 (position 6299435)
Other Location(s):
Assembly Chromosome Position
GRCz10 18 7254536
GRCz11 18 7213498
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCACATCGCTCAGTGTGTGGACCCCGTCTGCAACCAGATCTGCCCTGTGG[T/C]GCGTCCTACACAACTCCGCCTCAGTCTGTGAGATTGAGTCATATTCACTT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

(GWAS data comes from http://www.genome.gov/gwastudies/.)

OMIM

More OMIM information for VWF

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