Busch Lab

ZMP

si:ch211-106n13.1

Ensembl ID:
ENSDARG00000004291
ZFIN ID:
ZDB-GENE-060503-2
Description:
E3 ubiquitin-protein ligase HECW1 [Source:RefSeq peptide;Acc:NP_001139236]
Human Orthologue:
HECW1
Human Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:22195]
Mouse Orthologue:
Hecw1
Mouse Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 Gene [Source:MGI Symbol;Acc:MGI:2444

Alleles

There are 10 alleles of this gene:

Allele Name Consequence Status Availability
sa11509 Nonsense Available for shipment Available now
sa19894 Essential Splice Site Available for shipment Available now
sa33039 Nonsense Available for shipment Available now
sa14857 Essential Splice Site Available for shipment Available now
sa19893 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa11509
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
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Mutation:
G > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029412 Nonsense 258 1538 5 28
ENSDART00000142835 Nonsense 272 1552 6 29
Genomic Location (Zv9):
Chromosome 2 (position 50513836)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50209368
GRCz11 2 49943598
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGGCCAGGAGAARAGATCCGGCATCKTCTGCAATACCATTAATCCTGTWT[G/A]GCAGAGGGAGGTATGGCAAACAAACAAGAGCAAACGCACCAGATTAAACA
Long Flanking Sequence:
ATGATTCCTCATGATAATACTGTGCATTTAGAAAAAAAAAAAAAAAAATATATATATATATATATATATGTAAAACAACTATTATTTTGGATCGTCACAAATTTTTGCAGTTTCTGTTTTGTCAAGATATATTTTGTCATTATATTTTAATATTTCTATGCAGTTTTGTTTTAGTCTGAAATTTCTGTACATCTATTTTGTTCTCTTATATGCTTTTTTGTTCTGCTTATATTTTCTTCTATTGTTCATTTCTGTGCTGGTTCTTCTGTTTCTTTGATGTTATTTTCATTTTGCTCTCTTCATTGTCTACTTCACCTGCCATTCTTTTTCATTATGATCAGATTTCCAGGCCACCGGACTGAAAAAAGGCATGTTTTTTAACCCCGACCCCTACCTAAAGATCGCTATCCACCCTGGCAAACACAGCATCTTCCCAGCGCTGCCTCACCATGGCCAGGAGAAGAGATCCGGCATCGTCTGCAATACCATTAATCCTGTTT[G/A]GCAGAGGGAGGTATGGCAAACAAACAAGAGCAAACGCACCAGATTAAACATGCTTATATACAAATCCACATTAAACACTATCCGCTCGCCGTCTTATTTATTCATAGTCGTTTAACCCAACGCTGGCCTTCTGTGCTTTTGTAGAGTCCACACAGAGTTGGTCCTGTAAATCCTTCATTCTGCAAATAGACTGGATGCGTCACTGCAGACTCACAAACACTGACGCTGTTTGACTGACGGGATTTAACTGCATGTCATCTTTGTAGAGCTGGAAATTTGGATATTTAATTTATACAGTGCTCAGCGTATATGAATACACCCCTCACAAATCTCTCACTCAAATGAATGTTTTCTATATTAGTGGTTCTCAAAGTGGGGGTCGGGACCCATGAGGAGTCGCGGGACAATAAAGGGGGGATCGCCTGGTGATTTTCAAAAATCTATTAACTTTTATTAAACCTTAAGAATTACCATAATTTATCCATAACCTACTGAAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19894
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029412 Essential Splice Site 309 1538 6 28
ENSDART00000142835 Essential Splice Site 323 1552 7 29
Genomic Location (Zv9):
Chromosome 2 (position 50506769)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50202301
GRCz11 2 49936531
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GGCAAGCTGTCCATGCCAGTGCAAAGACTACTGGAGAAGCATGCTATCGG[G/A]TACGCATTACCACCACACCACATGACAACAACCTCAAAACTTTATTCATT
Long Flanking Sequence:
CATAGAAGTTCTAGTAAATTGAAACCACTTCAGTTCAGTTTTCAGCGTTGAAGTTCAGTTTAAGTTATAAATAAAGGAATTATGGTAATAATAATAATTGATGTTGCCATTGTGTAAGAAACAGACAAGCTCTGAGTGAAATATCTGGGTATTTTTTTGTTTTGTTGGTCTTGCATTAATTAATAACAGTATTTTTTTATAGTAATGAAGAACAACTTCTCACATTGCATTCATATAACTTTATAAAATCCTTTATTGCAAGATACCAACATGTTTCCTTTTTCATTTTAGGTTATGAAATTCAGCTTGAAATGATTGCTGTTTCTTCCTCTGTGTTTTTATGTTTCCTGCCTGTAGCGCTTTAATTTTGTGTCTCTGCCTACGGATGTGTTGGAGATTGAGGTGAAGGACAAGTTCGCCAAAAGCCGTCCCATCATAAAGCGTTTCTTGGGCAAGCTGTCCATGCCAGTGCAAAGACTACTGGAGAAGCATGCTATCGG[G/A]TACGCATTACCACCACACCACATGACAACAACCTCAAAACTTTATTCATTCTGAGTGTGCCTCACACAGGTGAGTGGGCATGACAAACCACCTATAGAAACACCTTTCTCTCTTTTAAAGAAGCACTCTGCCCTCCAAACTCTAGCACTTAATTCTCTGAGCACTATTTCCCTTTGTAAGTCGCTTTGTTGCCGCCCTAGTTGTACGCCACTTTGGGACAAAAGCATCTGCTAAATGACTAAATGCAATGTAAATGCAATGAAAAGATAATCAAACTAAATCTAGCCTCTTTTTTGTAATTTAAGCAGTATTTTTTTAAACGTGACTTTGCTTTTCATGCTAATGAGGAGAATAATGTCCTAATTCTTGTCACAGTGATCGAGTGGTCAGCTATACTCTGGGTCGAAGACTTCCAACAGAGCATGTCAGCGGGCAGCTGCAGTTCAGGTTCGAGATCACCTCCTCCATTCATCCAGGTGAATACAGTTTTCATTATGTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33039
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029412 Nonsense 804 1538 11 28
ENSDART00000142835 Nonsense 818 1552 12 29
Genomic Location (Zv9):
Chromosome 2 (position 50492082)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50187614
GRCz11 2 49921844
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCACATCTGCAGCCACGCCGGACGGCCTACGCAGGTCTGGATCCGTCCAA[C/T]AGATGGAGCAGCTCAACAGGAGGTAAACAACACTGGGCATCAGCCATTGC
Long Flanking Sequence:
CTGCTGGAGTGTGTGTGTGTGTACATACGTATGTGTTTGTGTAATGTTCCCACAAAATGACTCAAATATCAAACCTCCTACATTTGAGGGGATTTTCGAAGTAAAAACAAATGTACAAAGGCATTAAATGATGACCTAATTAGATAAATGTAGACTCAATACCGCTTTTTGATATCATCAATGATTGGAATCAGTGATATTATTAATGTTTTTGCTAAATATTTATGTATTTATATGATATTTATTAATCATTTCTGATTAAATAAATGCAGCATTGATGAGCATAGTGGGCTTCTTTTGACCCGCAGTGTATATTAAATGCTAAGCTTAATTTTGAGCGTCAAATGTTTTGGTTTTGTTTGGCTCGTTCAGACTGGGAGGCCCGGATCGACAGTCACGGTCGTGTGTTTTATGTGGATCACATTAACCGGACCACCACTTGGCAAAGACCCACATCTGCAGCCACGCCGGACGGCCTACGCAGGTCTGGATCCGTCCAA[C/T]AGATGGAGCAGCTCAACAGGAGGTAAACAACACTGGGCATCAGCCATTGCTCTTTTTTGTTATTCTATACTTTTTTTTTTTTTTTTTTTTTTTACCTCAATTATGAGATATTTTGAAGAATGCTGGTTGTTTGACTTCAATAGTAGGAAAAGTTTACTATGGGTGCCATCTATCAGCATTCTTCAAATAATCTTTTTTTTGTGTGTTTATTACTGTAGATCAGTTGCTTAATTACTTTAGATTTATTGTTTTATTATTGCGGTATTACTACAGGCTTCTTACTGGAATTTTATGCAAGCTTGTAATTTTTATTTGTAATTGTATAGCTTTTATTGCTTTGACTTTGAGAAAAGCACATCATAAATTAAATGCATTATTATTATTATTATTGATATAATTATTATTATTGTTATTGTTGTTGTTATTATTATTATTATTATTATTATTATTGATTTTATTATTATTATTGATATTATTATTATTATTATTGATATTATTAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14857
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
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Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029412 None 1397 1538 25 28
ENSDART00000142835 Essential Splice Site 1411 1552 26 29
Genomic Location (Zv9):
Chromosome 2 (position 50461695)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50157227
GRCz11 2 49891457
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCGAGGCGTTGTCCAGCAGACACAGGCTCTGGTGCGAGGATTTTATGAG[G/A]TAAACATGCTTAASATCCAATTTACTCTCTGCTGTGTACTATTAAGTCCA
Long Flanking Sequence:
TAAGTTGGCGGTTCATTCCGCTGTGGCAACCCCGGATTAATAAAGGGACTAAGCCGACAAGAAAATGAATAAATGAATGAACGTGGCTGACAATAATACATATTTAGGATAATAGGAATTAATCTGCCTGGTTTTTGAACAGTGCAGAGTTGTAGCTGCTTAATTAGGCCTACTACACTACTGTATTTCAATACTGATCATTAAGTCAAAAAGTTTAAGAACCACTGCTATAGTTCATTAAAACTGTTTTCATATGTCTTTATATGAAGCAGCTACTTTAATAAAACATGGGGCAAAGTATTTTGTTATAAATTAAACAATAATCCTCTTTTTCTGTGTTGTTTGTATGTCAGGTGACAGAGCGGGAGCTGAAGTCTGGCGGGACGAATGTGCAGGTGACGGAGAAAAATAAGAAGGAGTACATTGAGCGGATGGTGAAGTGGAGGGTGGAGCGAGGCGTTGTCCAGCAGACACAGGCTCTGGTGCGAGGATTTTATGAG[G/A]TAAACATGCTTAACATCCAATTTACTCTCTGCTGTGTACTATTAAGTCCAAGTGCCATCATTTAACCTCTGACCTGTGCATGCATGTGTGCAGGTGGTGGACTCTCGTCTGGTGTCTGTGTTTGATGCCAGAGAGCTGGAGCTGGTCATCGCAGGAACAGCAGAGATCGATTTGAACGACTGGAGAAACAACACAGAGTACAGAGGAGGTCAGAGCACACTCACAAATATATATAAATGCGTTCAAAAAATACACCAATACACTGTTACTGTGATTGGAGCATCAGCAAACTTTTGTATCATCACAAAAGCTATTAAAACACTCTTTAATGGGTTTTTTTCAAACAATTAAATTGTTAGTTTACAATAAATTGAAGATTCTGTTAATAATTACTCACCCTCATGTCATTTCAATTTAATGTGACCTTTGTTTGGAATACAAATGAAGATATTTTAGATGAAATTCAACCCTCCATACACAGCAACGGCCCTAAGACTTTC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19893
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:
C > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000029412 Nonsense 1506 1538 28 28
ENSDART00000142835 Nonsense 1520 1552 29 29
Genomic Location (Zv9):
Chromosome 2 (position 50455033)
Other Location(s):
Assembly Chromosome Position
GRCz10 2 50150565
GRCz11 2 49884795
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
GTTCAGTCTTGCTGATGTATGTCTCTCATGTTTCTCAGGGCGCACACATG[C/A]TTTAACCGTCTGGATCTTCCACCATATCCATCCTACACGATGTTATACGA
Long Flanking Sequence:
AATCTGTTTATCAAATCTTAAGCCATCGTCAAAGATAACACCCAGATTTTTTACAAAACGCTTCACAGAAAAACCCAATTCCCCAAGACCTGCTGGTGGTGTCCTAGAATAATTTGATGAGCCGAACACAATTATTTCAATTTTACTCTCATTAAAATCTAGAAAGTTCAAAGACAACCAGGCTTTCACATCCGACAGGCATAAGAGTCTCCAGTCCACTTGAACTCGGTTTTAAAGGCAGGTAAATTTGAGTGTCATCTGCATAACACTGGAAAGACAGACTATGTTTTCTAAAAACAGAACCCAGGAGAAGCATATATGAGGAAAAGAGAATAGGGGCTAAAATAGATCCCTGAGGAACACCACATGACAAAAAGGCTGCCTCAGAGGAATTTTAGTCATAAAAAAGTCTATGAACCCTGTAGTAGTCCAAATAGGACACAGAATTGTGTTCAGTCTTGCTGATGTATGTCTCTCATGTTTCTCAGGGCGCACACATG[C/A]TTTAACCGTCTGGATCTTCCACCATATCCATCCTACACGATGTTATACGAGAAACTCCTGATCGCTGTGGAAGAGACCAGCACTTTTGGCCTTGAGTGAGGGCTTCACATGAAACACCGTCCTCTGGGAGAGCTCCACTTGTACACTGTATGTATTTCTCTACTAGCGTGGATCGTTTCTTTGGTTTGTTCAGGACACCACTGCATGCTTCTGTCGCCTGCGCAGGTGGACGGTGAGTAACGGGTACACAATAGTGATCAAAAAAAAGAGAAGCCTTCAACCTGCTTTAACACTCAGGGCCTCGACCTCCGCTGGAGTCGCTCTCAGTTCACACACACCATCATCATTTCAACGCAAAACCGCCACGGCCGGCGTCCTTCACATTTTCACATCGATGAGAATTGTAAAATGAAAAACCAAATACGCTCACAGAAAATATTGAACGAAGGTGCCGTGATTACTGTACATGTGTGCACTAGTGCTGAGTTCACATAATCTCA
Associated Phenotype:
Not determined