ZMP
HECW1 (2 of 2)
Ensembl ID:
Description:
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:22195]
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 2 alleles of this gene:
Allele Name | Consequence | Status | Availability |
---|---|---|---|
sa15027 | Essential Splice Site | Available for shipment | Available now |
sa30017 | Nonsense | Mutation detected in F1 DNA | Not yet available |
Mutation Details
Allele Name:
sa15027
Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000090301 | Essential Splice Site | 353 | 494 | 9 | 12 |
Genomic Location (Zv9):
Chromosome 24 (position 216070)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 179953 |
GRCz11 | 24 | 731727 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
AGCGGGGGGTCATGCAGCAAGCCGAAGCCCTTGTYAGGGGTTTCTATGAG[G/A]TACAAAAGCTGGAACAGTAGACGATCCACACACAGGAAGCAATTACAGTG
Long Flanking Sequence:
AGTCAACGAGGAGGTCTTCGGACAGGTGCTGGAGCTTTCACTCTGTTACTAAAGATGAGTTTTCATATGACTTTAACCAGAATTTGCTATAAATGTTAATGTGCAATGATCGGGACTGAACGATTGTAAAGGCTGAGCCTTAAAGCATCCTCAATACATACAGCAAATAAAGGCCAGATCCCATTTCTGCCCTTCAGCCCTTCCCCCTTGATTCTCTTAGACTGGGACGTTAAATTGGGATGGGTCAATAACAATTGACTTTAGCATTGCTTTGCAGATGATCAAATATTAAGATTATTATTAAGTCATAAACGTACATACAGCAGCTTTAAACGTTTGACGTCTTTTACCAGGTGACGGAGAGGGAGCTGAAGTCTGGAGGCTCCAACATTCAGGTGACAGAGAAGAACAAGAAAGATTACATCGAGCGAATGGCACGATGGAGGGTGGAGCGGGGGGTCATGCAGCAAGCCGAAGCCCTTGTTAGGGGTTTCTATGAG[G/A]TACAAAAGCTGGAACAGTAGACGATCCACACACAGGAAGCAATTACAGTGCCCAGCATACATGAACTCATCTTCATTTGAGATTATTGTCTTTATCCATTTCTTAGTGAATATAGACTTCTCAGTGAATGTGTTTTGGTGTATTTAAACAAAAACAGTAGATCTGTGAATCTATATTGGTCTCATGGTTCGGTTCGGTTACGATTATCATTCATTCATTTTCTTGTCGGCTTAGTCCCTTTATTAATCGCCACAGCGGAATGAACCGCCAACTCATCCAGCACATTTTTACGCAGTGGATGCCCTTCCAGCCAGGGCCGACGTGTCCATAGAGGCGACCTAGGCGGCTGCCTAGGGCGGCAGTATAGAGGGGGCGGCGTCCGCGACACCTCCCTCACCACCTGCGTCCTCAATTATATTCGCGCATAGGCAACAGAATAGAGGTCCGCGACACTTCACTTCATTTTTATAACCAGTCACTTTCGTTTTCACATTGGGGTT
Associated Phenotype:
Not determined
Mutation Details
Allele Name:
sa30017
Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Not yet available
Mutation:
T > A
Consequence:
Nonsense
Transcripts:
Transcript ID | Consequence | Amino Acid Affected | Amino Acid Total | Exon Affected | Exon Total |
---|---|---|---|---|---|
ENSDART00000090301 | Nonsense | 393 | 494 | 11 | 12 |
Genomic Location (Zv9):
Chromosome 24 (position 218902)
Other Location(s):
Assembly | Chromosome | Position |
---|---|---|
GRCz10 | 24 | 182785 |
GRCz11 | 24 | 734559 |
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TGTATTAAAACAGGAGTATCAATGTCCATGTAAACATCTCCTGCAGGTTA[T/A]CATGATGGCCACATGGTGATGCGCTGGTTCTGGGCGGCAGTGGAGCGCTT
Long Flanking Sequence:
TGACCATCTCTCTCTCATTAGCATAAACAGCAGCTCTGAGTGAGAAGCAGCCGTCTGTGCACTAGTGTCCATCTCTCCCTCATTAGATCAAGTTTTTCTTTCTCCCAAATGAATCTAGATTTTCCTTTTGACATAAGATTATTTTTCTGACCCCATTTGGCCTGTTTTAAGGAAAAACTCACTTAATTTTGGCTTAAAACTAGACAGTATGAGTTTTTAGACTGTAAATCTGACACTTTTCTCTCTTCTGGCTGCCGTTATCAGTCTCACACTATTGTTTTCCTCTTTCTGAAAGTCTTGCTAACACCATCCTGGAGTTTTTCTGTCATTATTTCAGCAAATAGGATTGTAAATAAATGATTTGCTGTGCACTCCTACTACTGCGCTCTGCACTATGACCACTTCTGCTGCTGAGAAACACACGTGAAAAGACTCTCTCGTTGTCTTCATTGTATTAAAACAGGAGTATCAATGTCCATGTAAACATCTCCTGCAGGTTA[T/A]CATGATGGCCACATGGTGATGCGCTGGTTCTGGGCGGCAGTGGAGCGCTTCAATAATGAGCAGCGGCTGCGTCTGCTGCAGTTTGTGACGGGGACCTCCAGTGTTCCCTATGAGGGATTCGCAGCGCTGCGCGGGAGCAACGGCCTGAGGCGATTCTGCATTGAGAAGTGGGGAAAAGTCACTTCTCTGCCCAGGTATAATGCAGATATTACACAGACACAAATGATCACACAGATCAGATATTGACGGAAATGTTTTTGAAGAATTTAATAAGCATTCTTGATGTTATAAATATCGTAAACACACTTTACACAATACTGAGAATGGACAATGAAGATCTGCAGTGTAAATTCAGCCACAGTGCGATCCTGAAAGCCAAACATTAGTGTCACCCTGGCTTGATCTGCATCCAGCGCTTCACCTTGACATTCATTTTCTCTGTTGGTCTGGCAAAGCGAAGGGCCTGCGGGTTAAAGCCTGGCGCCGTCAGCACTAAAGCA
Associated Phenotype:
Not determined