Busch Lab

ZMP

VWA5A (4 of 4)

Ensembl ID:
ENSDARG00000073905
Description:
von Willebrand factor A domain containing 5A [Source:HGNC Symbol;Acc:6658]
Human Orthologue:
VWA5A
Human Description:
von Willebrand factor A domain containing 5A [Source:HGNC Symbol;Acc:6658]
Mouse Orthologues:
AW551984, Vwa5a
Mouse Descriptions:
expressed sequence AW551984 Gene [Source:MGI Symbol;Acc:MGI:2143322]
von Willebrand factor A domain containing 5A Gene [Source:MGI Symbol;Acc:MGI:1915026]

Alleles

There are 2 alleles of this gene:

Allele Name Consequence Status Availability
sa6785 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa30169 Essential Splice Site Mutation detected in F1 DNA Not yet available

Mutation Details

Allele Name:
sa6785
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:
C > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004689 Essential Splice Site 522 804 12 25
Genomic Location (Zv9):
Chromosome 25 (position 302147)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 233781
GRCz11 25 256534
KASP Assay ID:
554-4916.1 (used for ordering genotyping assays)
KASP Sequence:
TCTGAGGTTCAGCTGGTCAACGCTATAGAAGAGAGTTTGAAGAATGCTGG[C/T]GYCCGTCCATATGATGCTGTGGAAGTGGATGGTGAACCAGCATTCTTCAA
Long Flanking Sequence:
CTTCGGGATCGGCGAGGGTGCGAGTACCGCCCTCATCACTGGAATGGCTAAGGAGGGTTCTGGGCACGCTCAGTTCATCACCGGCAGCGACCGCATGCAGCCCAAAGTGAGCAGCAGAACGCGTCTGAGCACTCCGCTAACGCTAACGCTCTGCTCTCCGCTAACGCTAGCGTCTTCTCTCCGCAGGTCATGCAGTCGCTGCGCTTCGCTCTGCAGCCGGCGGTGGAGGAGCTGTGTGTGGACTGGAGGCTGCCGGAGGGTGTATCGGTGGAGCTGCTGTCTCCGCCCGTCCGCTCGCTGTTCCAGGGTCAGAGGGCGCTGCTGTACGGCCGGCTGAGGGGGCAGGTGAGGGTCACAGTCACTCTGAGTCTGGGGTACATCAGGCCTAAGGCACTGATCAGCTGACCATGAGCATCGCCATCGCCCGCTCAGCCTTCACTCCAACAGCGCTCTGAGGTTCAGCTGGTCAACGCTATAGAAGAGAGTTTGAAGAATGCTGG[C/T]GCCCGTCCATATGATGCTGTGGAAGTGGATGGTGAACCAGCATTCTTCAAAACATCTCCCTCTGTGTGCAGCAGTCACAGGTAGGGATGCACCGATACTGTTGTGTTGGAACTGATCCGATCTCGATAACAAAAATCTGAGGATCAACCGATACAGACCCGATCCCAATACAGACCCGATCCCAATAAAGACCCGATCCGGATACAGATCCGATCCTGATACAGACCCGATCCCAATACAGACCCGATCCGGATACAGACCCGATCCCAATACAGACCCGATCCCAATACAAACCCGATCCCGATACAGACCCGATCCCCATACAGACCCAATCCAGATACAGACCCGATTCTGATACAGACCCGATCCGGATACTGAGCCGTTTTGTTTTTAACATAACCCAGAGTCTACAATTCTGCTGATAAACTCAATAATAACCCTTCTCCAGTAAAATAAGACACCTGCCGGCCTGCTGTACACGACACACACACACACACACA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa30169
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000004689 Essential Splice Site 692 804 22 25
Genomic Location (Zv9):
Chromosome 25 (position 305134)
Other Location(s):
Assembly Chromosome Position
GRCz10 25 236768
GRCz11 25 259521
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCGTCTGCCCCCGTCGTCCTGATGGAGTGTGATTCTGCATCCGCTCAAGG[T/A]ATTCAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTACTTCAGCTGTGTTGA
Long Flanking Sequence:
CTATTATTGTGCGTCTGACGCTCGTGTGTGTGTGTGTGTGTGTGTGTCTTCAGCTCCTCCTATGATGGCGTATGACTGCGCACGCTGTAAGTGGAATATCCTGCTTTCCCTGAGGCTCCTCCTCCTCCTTCTTTATGAATGTCTATAACGTCTGTCTGTGTCAGTTTAATTAGTGCGCCTGACGCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTCTGTCATCAGCTGCTCGTGTTCCTCTGCGTGCAGGAGGAGGAGGAGACGCCAGTAAGTCAGATACACTCCTGTATAAGTCATGTGATCTCGCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAACCCAGCCGGACTCTCGGCTCGTCTCTCAGAATGTTCTGCTGTTGTGTTTCAGTGATGTACCGTGAAGCAAAGTCTGCACGGGTCTCTCAGCCGTCTGCCCCCGTCGTCCTGATGGAGTGTGATTCTGCATCCGCTCAAGG[T/A]ATTCAGTCGTGTGTGTGTGTGTGTGTGTGTGTGTACTTCAGCTGTGTTGACCCAGTGCTGACGTGTGCTGTGCTGCAGAACCTGATCACCAGCAGGACCCACTACTCCAGCTGGTGTCCCTGCAGAGCGCCTCGGGCAGCTGGGAGATCAGCAGCGCTCTGTCTGCGGTCCTGGAGAAACCCGAGGAGGAGCTCCGGAAACACACTCCGGCACAGGTGTGTGTGCGTGTGCGTGCGCGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTCTGTCTGTCTGTGTGTGTGTGTGTCTGTGTGTGTGTGCGTGTGTGTGTGTGTGCGTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTCTGTGTGTGTGTGTGTGTGTGTGTGTGTCTGTGTGTGTGTCTGTCTGTGTGTGTGTGTGTCTGTGTGTG
Associated Phenotype:
Not determined