Busch Lab

ZMP

si:ch211-246m6.5

Ensembl ID:
ENSDARG00000011673
ZFIN ID:
ZDB-GENE-050208-577
Description:
Novel protein containing EGF-like domains [Source:UniProtKB/TrEMBL;Acc:B0V3W1]
Human Orthologue:
VWDE
Human Description:
von Willebrand factor D and EGF domains [Source:HGNC Symbol;Acc:21897]

Alleles

There are 6 alleles of this gene:

Allele Name Consequence Status Availability
sa12831 Nonsense Available for shipment Available now
sa43797 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa43796 Essential Splice Site Mutation detected in F1 DNA Not yet available
sa16549 Nonsense Available for shipment Available now
sa958 Essential Splice Site F2 line generated Not yet available

Mutation Details

Allele Name:
sa12831
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
ENSDART00000033332 Nonsense 712 1983 12 32
ENSDART00000133365 None None 255 None 9
Genomic Location (Zv9):
Chromosome 22 (position 14378347)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14209254
GRCz11 22 14233829
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTTAANNNAGATGAAAGGTGCTAAACTGAAGTCTCAGTTGTCCAGTGGTT[T/A]GGCAGACAACTCTCTCTCTGTCAGGGAATTGGAATTGGACTCATTATYTA
Long Flanking Sequence:
CTTGATTTGCTCGTTTTAATGTCAAATATAATTAAAGCTGGGGAAAATCTCTAATCTAATGGGCTAACCTTTCTCGAACTCTAAATCCTCTCTTGACGCAGTGCTTGAGGGCTTAATTCAAAGGCTGATTTGAGACAGTCATATTTTTGTTTTATTTCTCCGTGTCAGGATCGCGCCTGGGGAGAGCCTGTTTGACAGCACGCCACCTGCCGTGGATGAGGAGATAAAGTGGAATTTCTGTGCTTGTCAAAAGGGATACAGCCTGTCCCTCCATTCAACACGCGCCTCAGAAGGCCTATTAAACCCACCTCCTGTCTCTCGCTGCCTATCTTACGACAACACAGATTACACGTCCCTGTTCCCCTTCAAAGACGCCACTGCTGAGTATGCTGTTAAACCCTTCTCCACCCGTAACGTCCAGAAGCGGGAGGCTTTGGCTAAAGCATCAGAGTTAACCAAGATGAAAGGTGCTAAACTGAAGTCTCAGTTGTCCAGTGGTT[T/A]GGCAGACAACTCTCTCTCTGTCAGGGAATTGGAATTGGACTCATTATTTAAAGTTCACAATCCTCACTTGAATGAATCTAAGGTACCCTCACCAAGGCTAAAGAGACAAACCCTTGACTTTCAGCCTGTTTACACCTTCCAGGCTCTAAGCCAGACTGACCTCGAAAGTTTCGCCTACTTCTTTCCAGATGACCACCGCTCTTCCAGCCGTCCAGCTGCCCACCCTTCCTGGCCGACACCTAGCGGTCTCACTTCTGCCAAAGCTTTGGAGGTCTGCCAATCGACCTTGGCCAACTCAACCGTGGGCACGGTATGTAAGAGTCTGCTGGGTCGGCGCCTGGAAGAAGCTGTGGATCTCTGCATCCTGGATCTTCAGTTGAAAGATGATTTGGCTTGGGAGGACGCACTCGTGCCCTTCCTGGAAAACGAATGTGAGCGAAAATGGCTGGAGAACCGGAGCCAGAGTTCTCAAGAAGCTTCCAAATCTTTGGCAGATATTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43797
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 > T
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033332 Essential Splice Site 1015 1983 15 32
ENSDART00000133365 None None 255 None 9
Genomic Location (Zv9):
Chromosome 22 (position 14359551)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14190559
GRCz11 22 14215134
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TCATTCACACAGCATTAGTATCTAAACCTAATCTCTCTTTTTCTTCTTCA[G/T]GTGACTAATGATGGACAGCAGTACAGCGATGGCAAGATTTTAACCCTTTA
Long Flanking Sequence:
ATTATATGTGTCAGATGTCAGTTCAAAGTTTAGACTGACTATTAGCTAAATATAAATTTAACTTAAAAATTTCCTTGATTTGCTAAGACTCCACTGATCAACCTTCTGTATCACGAAGTAAGTGAATTTTTATGAACTAATTTCAAGAGGAGCATGTGATATGATTCGTTATCAGCAATAAACCAATCAGATTGATTCAAGCCTTTACTTAGTTTTAGAATTATCCCGACTTCCACCTCATCTCCTCCTTTTCCTCCTTTAGCAGGGGCAGCTCTCACCTGTGCCTGAGCTTAATTATTAATTGATGTCCTAGGCTCAATTATCTATAAGCTCAGGGGTTCTCTCCTGAAACAGCATGCCAAACCTGCTAATAGCGTCAAGCGAAATCTAAGTGTAAACTCTTTAAAAGCTAATTTAATGTTTGTGTTAAACATGTTTTAAAAATTATCATCATTCACACAGCATTAGTATCTAAACCTAATCTCTCTTTTTCTTCTTCA[G/T]GTGACTAATGATGGACAGCAGTACAGCGATGGCAAGATTTTAACCCTTTATGATGGTATTTGCCAGATATGTGTGGCTCCTTCTGGAATTTGTAAACTTAAGGTAATCATATACTCAAAGGCTTATGAGAAACAGAATTCATTTTTTATTTAGTGTACAGTTAGCATAGGGACAGTGAAAAATACAAAATGTCCACATAATTTTAAACATGTGGATTAAATAATTTTTTATTTTTTATTTGTTTAAAGACAGCAAAAAATAAATGAATATATACAAAACTTATTGGTATTTGGAGGTTTTAATAATTAGATTTGACATAAACATCAGAATCATTTCCATAAATGTTGTCTTTAATATAAAGTGTTTACGTTCATTTGTTTGATCCCACCGGTCTCCTGTGTGACCATAAAGGCAGTGTCTAATAGTATAATAATGCATAAATAAAACTTAAACAATAACATTTATTGTATAATGTATGAAATATTTGAATGCATTTCTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa43796
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
ENSDART00000033332 Essential Splice Site 1048 1983 15 32
ENSDART00000133365 None None 255 None 9
Genomic Location (Zv9):
Chromosome 22 (position 14359447)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14190455
GRCz11 22 14215030
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGGTATTTGCCAGATATGTGTGGCTCCTTCTGGAATTTGTAAACTTAAGG[T/A]AATCATATACTCAAAGGCTTATGAGAAACAGAATTCATTTTTTATTTAGT
Long Flanking Sequence:
TCTGTATCACGAAGTAAGTGAATTTTTATGAACTAATTTCAAGAGGAGCATGTGATATGATTCGTTATCAGCAATAAACCAATCAGATTGATTCAAGCCTTTACTTAGTTTTAGAATTATCCCGACTTCCACCTCATCTCCTCCTTTTCCTCCTTTAGCAGGGGCAGCTCTCACCTGTGCCTGAGCTTAATTATTAATTGATGTCCTAGGCTCAATTATCTATAAGCTCAGGGGTTCTCTCCTGAAACAGCATGCCAAACCTGCTAATAGCGTCAAGCGAAATCTAAGTGTAAACTCTTTAAAAGCTAATTTAATGTTTGTGTTAAACATGTTTTAAAAATTATCATCATTCACACAGCATTAGTATCTAAACCTAATCTCTCTTTTTCTTCTTCAGGTGACTAATGATGGACAGCAGTACAGCGATGGCAAGATTTTAACCCTTTATGATGGTATTTGCCAGATATGTGTGGCTCCTTCTGGAATTTGTAAACTTAAGG[T/A]AATCATATACTCAAAGGCTTATGAGAAACAGAATTCATTTTTTATTTAGTGTACAGTTAGCATAGGGACAGTGAAAAATACAAAATGTCCACATAATTTTAAACATGTGGATTAAATAATTTTTTATTTTTTATTTGTTTAAAGACAGCAAAAAATAAATGAATATATACAAAACTTATTGGTATTTGGAGGTTTTAATAATTAGATTTGACATAAACATCAGAATCATTTCCATAAATGTTGTCTTTAATATAAAGTGTTTACGTTCATTTGTTTGATCCCACCGGTCTCCTGTGTGACCATAAAGGCAGTGTCTAATAGTATAATAATGCATAAATAAAACTTAAACAATAACATTTATTGTATAATGTATGAAATATTTGAATGCATTTCTTAAAATGGTTCATTATATATATATATATCCCAGACAGCACACATACGTTGGGCCGACGTCGGCCGAAGGTCAACACGTCGGCCCCTTTAATTCTAACATCGGTATA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16549
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
ENSDART00000033332 Nonsense 1624 1983 22 32
ENSDART00000133365 None None 255 None 9
Genomic Location (Zv9):
Chromosome 22 (position 14307724)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14138732
GRCz11 22 14163509
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TCCCCAGGAGAGSTTCACCTACCTTGGTGAACAAAGCCACACCAAGTCTT[T/A]GAGCAACCAACCAGMTCTTGAGAAAGGTAGACACCCAAGCAAAACCAGCA
Long Flanking Sequence:
TCACCATCAGGCTACCACTCGCATACCCCTCCCGCCAACATTTCCACCTGTCACAGAGAAAAGAAAGTTGGCGCTGACGACAGGACGCATGCCGGCCTCAACTAGCGGAAGGGATCAACTTCTTTCTGGCTCTCACAATCAACTCAATGTTCTCCCGAGTCCCACGGATCGAGATGCTTCAGTTAAAGTCTTGACAGGTGGATTTGCGGGTGTCACATCTGGAAAAGTCACTTTACCTCACACTTCAAGGCATGTTGAGGCACTGAGGCAGACTCAAAAACAATCTAGTCCGGCCACAATTTCCCAAGCTCGACCTTGGACTCCTCCAGACACCCAGCGACCCCTAACAGCAGCTTTAACCTCCCTCTCCTTCTCCTTCTCTGAGTCGGAGTTCTCCGCAGATGGAGGCCTTGGAGCTGGAATTCAAGACCCTTATGAGTCCCAGCCACTTCCCCAGGAGAGCTTCACCTACCTTGGTGAACAAAGCCACACCAAGTCTT[T/A]GAGCAACCAACCAGCTCTTGAGAAAGGTAGACACCCAAGCAAAACCAGCAACGTGGTTCTCTTAGAGGAGAGAAGTTTCTCCTGTGCAGATGTTTCTTGCTTCCCTGGAGTACACTGTGAGCTTGCAGGGGATGGACAATCTAGATGTGGACGGTGTCCTTTGGGGTACACCGGAAATGGACAAATGTGCAGAGGTAATTCTAGATGTATAGATGTCTTTTCTTCATTAATCATTTAGTCCAACAGTTAGTGACTTGCTTATCTATGACACAATTTTTTTGTATTGCCTACTTTAAACACATATGTACCCTGCTGACCCCAGAAAGTGTGTAATAGTACCTTAAAATACAGGTATCTAACCTTAAGGTGTTGCTGAATAAATTTTAGACATACACTAGTCCAGGAGTTCTCAAAATCGGTCCTGGAGGGTTGGTGTCCTGCAGATTTTAGCTCCAACATGCCTCAACACACCTGGAAGGATGTTTCTAGAAATCCCAGTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa958
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 > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000033332 Essential Splice Site 1913 1983 30 32
ENSDART00000133365 Essential Splice Site 185 255 7 9
Genomic Location (Zv9):
Chromosome 22 (position 14292245)
Other Location(s):
Assembly Chromosome Position
GRCz10 22 14123353
GRCz11 22 14148130
KASP Assay ID:
554-0863.1 (used for ordering genotyping assays)
KASP Sequence:
ATCCAGCTGTGTGGGAATTAAATAACAGTGTGCGTGTTTGTGTTTCTCCA[G/A]CGGTGTGTGTGCAGAAGTGTGTGAATGGTGGTGAGTGTGTGGGGCCGAAC
Long Flanking Sequence:
CCGAGAGTGCAAGCCTGAAGATGCAAGTGCAAGTTCTCAGTCTGGTACTAGTCAGGTGTACCTGATAAAGTGGCCGATGAGTGTAGTTCTTCCAGTCTCTTTTTGACTGTAGTTTAGTTCTAGCTCCCCCTGGTGTGAATGAATCCAGGGCTTTACCTTAGTATTTCTCTGCAGGTGTGTGTGAACCAGTGTGTGTGAACGGAGGACGCTGCATTGGACCAGATGTTTGTGACTGTGCATCGGGCTGGAGAGGAAAGAGATGTGATAAACGTGAGTAAAAAATAAAACAACCTGAAGTAAAGATGACAGTGACCTTTTGACCCCATGACAGCAAATGACCCCAAAGGTGTGAAATAAAGAACATCTCACAACAGAGAAGAAAAGTCGATCACAACTTGCACTAAAACCGACTATGAGCATAAACCTCAAAGTTAATATGTAAAATAACAGATCCAGCTGTGTGGGAATTAAATAACAGTGTGCGTGTTTGTGTTTCTCCA[G/A]CGGTGTGTGTGCAGAAGTGTGTGAATGGTGGTGAGTGTGTGGGGCCGAACAGCTGCCTCTGCAGTCCCGGCTGGAGAGGAACAATCTGCCAGATCCGTGAGTCTTTCCCAAAAACACAGATCCTCCAAACACACATTCCATGACCAGTCCAGACCCCAAATAAAGATATACATGCATGCAATTAATAACTCAAATTATGAACAAATGGTTAAATCATTAGTGTATGCCTTTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATATTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTCACTGTAAATAATTAATAATTGCATTTTTAGGATTTTAGTATTATTATTATTAATAAAACATTGTTTATAGTTTATATTTAAAGTATTACATATAAAATATATTTTACTATTTAAATTAAAACATATTTTTATATTTTTAAATGATATTCAATTT
Associated Phenotype:
Not determined