Busch Lab

ZMP

HECW2 (1 of 2)

Ensembl ID:
ENSDARG00000063253
Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:29853]
Human Orthologue:
HECW2
Human Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 [Source:HGNC Symbol;Acc:29853]
Mouse Orthologue:
Hecw2
Mouse Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Gene [Source:MGI Symbol;Acc:MGI:2685

Alleles

There are 8 alleles of this gene:

Allele Name Consequence Status Availability
sa17893 Nonsense Available for shipment Available now
sa19412 Essential Splice Site Available for shipment Available now
sa18393 Essential Splice Site Available for shipment Available now
sa19413 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa17893
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:
C > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090286 Nonsense 186 1567 4 34
Genomic Location (Zv9):
Chromosome 1 (position 5187466)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 5625928
GRCz11 1 6325081
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTGTGTCATGGTGWTYTCTGCAGGTTGGGGCAGAGGGGCAGGTGGATGGA[C/T]AGTCTGTCACTGAACACWGCAGRAAATTGGTCAGCTTTACWTTATCAGGT
Long Flanking Sequence:
AGCGCGTATTGAACCGTGTAGGTCGTAACGTACGTTTCAATATTATATTGAGAATCATGGCATCCCTAGTAAATAGTGAGGAAATGTACATTTTTGGGTAAACTATCCCTATAAATATGCATTTGTAATTGTGCATTTTATATATAAATCTCACCATTCAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNAACTAATAAAAATGTTATATTTATGAATTAATGTGAATGTTTATTCATGAATGTTGATTTTTTTTATTAAAGGGATTGATAAAGTCAGATGTATTTAATCAATTCTGTTTAGTGGTGCTACAAAATCTGAATTATAAAGCATTTCGTTCAAGTCTTTTGTTGCCAGGTTCTTTGTCCTGATGTTTAATAGTGTGTCATGGTGTTCTCTGCAGGTTGGGGCAGAGGGGCAGGTGGATGGA[C/T]AGTCTGTCACTGAACACTGCAGGAAATTGGTCAGCTTTACATTATCAGGTTAGAAGGTTGATTTTTATCACACTTACACTGATTCAAGCAAATCACTTCTTTATGAAACTGATTTCTATTATATAGGATTATACAATCCCTATGAGTAATTTTAAACATATTTAACCATTCACATGATTTTTACCACAGATGAAGAAGGCAAAATAGTTTTATAGGCAACTTCAGATGGATAATTGCTTTTATGAAAAAGCATAAAAAAATATTCATTTATTCATTTTCTTTTTGGCTTAGTCCCTTTATTAATTTGGGGTCGCCACAGCGGAATGAACCGCCGCATATAAAATATACATTTGTTTATTTATTTATAGTGCAACCCTAATAAAAGTTTGTGCAGCAAGTAATATAAACCATTTGTCTTAAAGGCCACCGAAAATACATAAACACACGTTTAAACAGAGCCGAAAACCCCACAGACCAAAACCATAATTTGATATAGGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19412
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 > C
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090286 Essential Splice Site 202 1567 4 34
Genomic Location (Zv9):
Chromosome 1 (position 5187516)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 5625978
GRCz11 1 6325131
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CAGTCTGTCACTGAACACTGCAGGAAATTGGTCAGCTTTACATTATCAGG[T/C]TAGAAGGTTGATTTTTATCACACTTACACTGATTCAAGCAAATCACTTCT
Long Flanking Sequence:
AGAATCATGGCATCCCTAGTAAATAGTGAGGAAATGTACATTTTTGGGTAAACTATCCCTATAAATATGCATTTGTAATTGTGCATTTTATATATAAATCTCACCATTCAGNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNAACTAATAAAAATGTTATATTTATGAATTAATGTGAATGTTTATTCATGAATGTTGATTTTTTTTATTAAAGGGATTGATAAAGTCAGATGTATTTAATCAATTCTGTTTAGTGGTGCTACAAAATCTGAATTATAAAGCATTTCGTTCAAGTCTTTTGTTGCCAGGTTCTTTGTCCTGATGTTTAATAGTGTGTCATGGTGTTCTCTGCAGGTTGGGGCAGAGGGGCAGGTGGATGGACAGTCTGTCACTGAACACTGCAGGAAATTGGTCAGCTTTACATTATCAGG[T/C]TAGAAGGTTGATTTTTATCACACTTACACTGATTCAAGCAAATCACTTCTTTATGAAACTGATTTCTATTATATAGGATTATACAATCCCTATGAGTAATTTTAAACATATTTAACCATTCACATGATTTTTACCACAGATGAAGAAGGCAAAATAGTTTTATAGGCAACTTCAGATGGATAATTGCTTTTATGAAAAAGCATAAAAAAATATTCATTTATTCATTTTCTTTTTGGCTTAGTCCCTTTATTAATTTGGGGTCGCCACAGCGGAATGAACCGCCGCATATAAAATATACATTTGTTTATTTATTTATAGTGCAACCCTAATAAAAGTTTGTGCAGCAAGTAATATAAACCATTTGTCTTAAAGGCCACCGAAAATACATAAACACACGTTTAAACAGAGCCGAAAACCCCACAGACCAAAACCATAATTTGATATAGGAAAAAAAGGCTGTGTGATATTGACAAAATTGATTCCTAATCTTATTTAAACAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18393
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:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090286 Essential Splice Site 306 1567 7 34
Genomic Location (Zv9):
Chromosome 1 (position 5192860)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 5631322
GRCz11 1 6330459
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
YTCATAAAGTTTAGTGATCTACTTTTTTCTGTGAWTGTATTTGGAATAAA[G/A]GGATCAACATGTGAGCTACACACTTTGTCGTCGACTRCCAACAGAACATG
Long Flanking Sequence:
AGAAGCATAACTGTATTTCACCAATATACATTTTTATTTCCCCTTTGCAGAAGTACACTTTTGTTGCACTGATGACAGACGTTTTGGAAATCGAGGTCAAGGACAAATTTGCAAAAAGTCGCCCGATCATCAAACGCTTTTTAGGTCAGCTGATAATCCCGGTGCAGAGACTGCTGGAGAGACACACAGCCGGGTCAGTATTTGCTATTAAATATGTATCTGCAAGAATCTATTATGTATGAGACTCCATTAACGAAAGAGTTATAACCTCCGCCAGGCAACCTGAAGTTCATTTCTTTCCAATGAAGTAAAAACAATTGTAAAAATAAAAGCATAAACAAAAAAGACTTCATTTTTGAAAGTTATTTTTACATGTTGTATTTAATCATATGTTATGCAATCAAGAACACATCTGAGTAGTTGTGTATAAATGTGTTTGTTTCTACAGTGCTCATAAAGTTTAGTGATCTACTTTTTTCTGTGATTGTATTTGGAATAAA[G/A]GGATCAACATGTGAGCTACACACTTTGTCGTCGACTACCAACAGAACATGTGAGCGGACAACTTCACTTCCGAGTGGAGATCACCTTCAACGGGCATGAAGGTAAAAATTACAGTGTGATTATTAATACAGGCCCATAGCCAGCCTTGTGAAAGGAGTGGTTCTTTTTCACAAAAAGTGGACATTTTTGCACTTATACGCCTCGTTTTCTATTTAACAATGAAGTTTTAAATACTTCATTTGAAGCACTATTTTAGCTGTATTAGCGTATTGGATGGTCATTTTAACAACGCTTTTTGATGTACCAAAATATTTCCTAAAAACTTAGAATAAAGAAATATGGATAAAATCATATATCATTAGAAAACAAATAGGAATCTGTTAAAGTTTTAATTAAAAACTGTAACCTATTGTCATTTATTAGGCAAATACAAAACTCTTATGGCCCAAAACTCATAACTCAAAACTGGCTCGAATAATAACAGCATCAAGGTTTGAGCC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19413
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 > A
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000090286 Nonsense 1336 1567 29 34
Genomic Location (Zv9):
Chromosome 1 (position 5220616)
Other Location(s):
Assembly Chromosome Position
GRCz10 1 5659078
GRCz11 1 6357065
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
CCATCAGATTATTTGACTTCATACGTGTTTGTTTAAACATGTAGCCCGTG[T/A]GATCTGAGTGATCTGGAGTATCTGGATGAGGAGTTTCATCAGAGTCTTCA
Long Flanking Sequence:
CAGGGAGAACATGCAAACTCCACACAGATACGTCAACTGAGCCGAGATTAGAACCAGTGACCATCTTGCTGTGAGGCGACAGCCATCCCATTGCATCACTGCGTCACCACCACTTTCACCAAATCCATCATTAAAATCAAGATTTAAAACGTACTATAATTAACCTATAAGACTGTAGACTCCATTCCAGTCAAACTAGCGTAAATAAGTCCCAGTTTTATTTTGGCATGACGTTGTTTTCATTATATACACAACATATTTTTATTCTGGGGTTGCTTTTATAATGTACACATGTTTTTGATTGGTCAGGTTTCGCTTCAGCGGCCGTATTCTAGGTCTCGCTCTTATCCATCAATACCTACTGGATGCCTTCTTCACACGACCCTTCTACAAAGGCCTGTTGAGAATGTGAGTGAAAATTGAACTACATGTTCTGTATTACATTTATCACCATCAGATTATTTGACTTCATACGTGTTTGTTTAAACATGTAGCCCGTG[T/A]GATCTGAGTGATCTGGAGTATCTGGATGAGGAGTTTCATCAGAGTCTTCAGTGGATGAAGGACAATGACATAGAAGATATGCTGGATCTGACCTTCACAGTCAATGAGGAGGTGTTCGGACAGGTCAGTGTGTGACCTAAAAACGTGTTAGCTTCATTACACTACAGACCATTGTAACGTAGGAGTCGGGTTGACAAAAGAGGTGAGGATTCACATGCAGTTTGCGACCCTAAGAACTATACTATGCGAAATGATAGACTTTGTATTTTGTCCGTACGATATACAGTCAAGCCCGAAATAATTCATACCCCTTACAAATTCTGACTCCCTTCACCGATTCTCAATCAGATTTAAGTCAGGACTCTGGCTGGGCCACTGTTAATGTTTTTGTCTGCCACTTTGGCTTTGAGATTTCGGTTGTTGTGCTGAAATGTCAAATGTTGGCTGAGTTTCTCAGCAGACTGCCTGATGTTGTTGTGGTTGTTATTGCTGCTGGTTGA
Associated Phenotype:
Not determined