Busch Lab

ZMP

HACE1

Ensembl ID:
ENSDARG00000062280
Description:
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:210
Human Orthologue:
HACE1
Human Description:
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 [Source:HGNC Symbol;Acc:210
Mouse Orthologue:
Hace1
Mouse Description:
HECT domain and ankyrin repeat containing, E3 ubiquitin protein ligase 1 Gene [Source:MGI Symbol;Acc

Alleles

There are 5 alleles of this gene:

Allele Name Consequence Status Availability
sa22738 Essential Splice Site Available for shipment Available now
sa13490 Nonsense Available for shipment Available now
sa16955 Nonsense Available for shipment Available now

Mutation Details

Allele Name:
sa22738
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
ENSDART00000089855 Essential Splice Site 276 908 9 25
Genomic Location (Zv9):
Chromosome 16 (position 3683759)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 2874212
GRCz11 16 2384887
KASP Assay ID:
2260-9110.1 (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCAGACGCTGATACAGATGACCCAGAATGATGACATTAAAGAGAACATG[G/A]TACACCTCTTTCATCACCTCTGACGTTCTTGATCATTTTGAAGTCCTCCT
Long Flanking Sequence:
ACATTATTGTCCCTCTCCTGTGGTTTGTAATGTAATGAGCAGCACAAATGTCTTGATACCTCAGGCTGTTGATGTTGATCATCCACTCTGCACTAACCACTTCACCACTGGCGCAGAAAAGTGTTCCTTTACATCACATTTTTCTTGTCTTAAATGCAAAGGGAGATCCAAACTCGTTTACATTGAAGGAAATGTTAATATTCGTCGTTTTTTCCATTCATCTGCAGTCACGGTCAGAGGGACACGGCACAGATTCTCCTCCTCAGGGGAGCCAAGTATCTTCCAGACAGGAATGGAGTTACACCACTCGACTTGTGTGTTCAGGTGAATATTCATAACGTTCACACACTCTCTAGAACTGGCATGCATAATAAACCTCATGTGTAACTACATTCTAGGGTGGCTATGGCGAGACGTGTGAAATCCTCATTCAGCATCATGGCCGACTGTTTCAGACGCTGATACAGATGACCCAGAATGATGACATTAAAGAGAACATG[G/A]TACACCTCTTTCATCACCTCTGACGTTCTTGATCATTTTGAAGTCCTCCTGTTTCCTTTTTCAAATATTTCCCAAATGATGTTTAACAGAGCAAAGCATTTTTCCACACTATTTCTTATAATATTTTTTCTTCCAGACAAAGTCAGTAGTCACATCGTAGGAGAGTTAAAAAAATTGGCCACAAGAAAATTATAATGTTGGAAAGTGGAACAAAGATTCATTGTATTTAATTATTAGTTATTTAATTATTAGTTATTTAATTATTAGTTAAATTATTAATGCAAAAAAACTAAAACATTGTTTTTACTTAGATTTGTTTTGTCCTGTTTCTAGTCCAAATATCCACGTTTCAAACCAAAAACAAGATTATTTTACTTTTCCTACTGACACATAATTTTGCTTGTTTTAAGGAAAAACTCAATGTAAGACAGTATAAACAATAGTTTTACATGATCCTTTTAGATATTTGGACTAGAGGCGAGACAAAGTGAAGTAAAATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa13490
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 > G
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089855 Nonsense 527 908 15 25
Genomic Location (Zv9):
Chromosome 16 (position 3694912)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 2863059
GRCz11 16 2373734
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
GTCTTCTCTTCTYCTTCTTAGCCGTTTAAAGACCGGTGCGAGTGGTTTTA[T/G]GAACATCTTCTTGCTGGACAGCCAGACTCCGATATGGTGCATCGRCCGGT
Long Flanking Sequence:
CATTATTTCTGTTCAGTGACGAGACTTTTGTCTAAGCAGAGTCAGACCTTACTGTCCTAATGAAATCAGTCAATATCAAGTCATGATCAGATTTTATTGTGCTCAAATAGTGTCATCTAGAGGCCTTTCATATAAGCCACTTCTGACACCAAATCATCAACTAGAAGTCAAGTTATTATTTGTTGTCCCTAAAATAATTCATATTCTGTAATTTGATGCAGAGATGATATAACATATTTAATTATTTAAAGGATTTAAGATGCTGATGACCGTTAAATGCGTCTTGTGAAAAGGGTCTATATTGGATTATTTGAAAGCTATTCACAATAATATGTGTGCCTCACAAAGGTTAGTGGGCTTGACAAACCAACTGTAAAATGCACTCCTTTATCTCTCAGAAACTTTAACAGACACTTGCACCAGTTTGGCATCAGACACTTTCTTACTTTCGTCTTCTCTTCTCCTTCTTAGCCGTTTAAAGACCGGTGCGAGTGGTTTTA[T/G]GAACATCTTCTTGCTGGACAGCCAGACTCCGATATGGTGCATCGACCGGTTAATGAAAACGACATCCTTCTCGTGCACAGAGGTAGACAAATATCTGATTTTGTATAAGAAAACATGAATTATTTAGTTTAAGAAAGCACATGCAATTCTGAAAAACACCAGCAAATTAATCGGCTTGCCAGCATATATGTTACCAGCATACGTGACCCTAAAACATGACGGACTCAGCTGGGATTTATTTATTGTGCCGTGACCGTAGCTAACTTTCTGCAACTCTCACATGGTCGCTTACTGAAGCTAAGCATGGCTGCGCCTGGATGGGAGATCACATGGGAAAGCTAGGTTCCTGCCGGAGGTGGTGTTAGTGACACCAGCAGGGTGCGCTCAACCTGTGTGGGTTCTAACACTCCGGTATATTAATGGGGACTTTATACTGATCAGTAATCTGACTCTCTGTGGTCATTTGCCCACTGGCCTCTGTCCATCATCGCTTTGGAGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa16955
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 > T
Consequence:
Nonsense
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000089855 Nonsense 563 908 16 25
Genomic Location (Zv9):
Chromosome 16 (position 3697507)
Other Location(s):
Assembly Chromosome Position
GRCz10 16 2860464
GRCz11 16 2371139
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TTGCTGTGTGCTATCATCTCGTTTCAGACTCGTTATTCAGAAGCAGCTGY[G/T]AAGTCGTGTCCAAGTCCTCCAATGAGAAACTCAAACAAGGCATCGCCGTG
Long Flanking Sequence:
AAGGTATTCGGCGACAGGCCCCGGAAGTGACAGTGGAAATGTGTCTGGCCTTGGCTCTCCTTGTGTAGCTCGCTTTAGGCGCGATAGTGGAAACACTGCTTCAGTTTCCTAACCATCCACATATCTTGATTAGCTTCATTACTGTCTCCTCTCCACCCATCAGCTGGTGTGTGGTGTGCTGTCTGCTGCAATATGGCTGCCCCTCGATCCCCCTCAAAAATGTATAAAGCGCATTAAGTGTCTAGAAAAGTGCTATCAATGTAAGGAGTTTTCATTAATTTGTTTGCATTGTGAGACTTTGCAACACACATGCGGTCAAATCGATGAAGATCTTTAATTTGCGGGTGTTTTTTGTAATTGCATGTGTTCTCAAATTGCAGCGCAGTAAGCACTCTCGCCCACTGTAGGTTTCCTTATGAAGGCTTCTCCGTCCAGCTTCATCTTCTTCATTTGCTGTGTGCTATCATCTCGTTTCAGACTCGTTATTCAGAAGCAGCTGT[G/T]AAGTCGTGTCCAAGTCCTCCAATGAGAAACTCAAACAAGGCATCGCCGTGCGGTTTCACGGTGAAGAGGGAATGGTAATATTCAACAGTCACACTTTAGTTTAGGTCACAATTCATGCTATTAACCACTGGCTTGTTATCTGCCTGTTTTTAAGATGTTTCTTTTTTATTAGTAACCACACAGTATGATCTTACTCCACATTCCTAATCCAACACAAAACCTACTGTACACCCAACTTCTACCTAAGTAACTATTAATAAACAGCTGAGTAGTAGTGTTAAGATTGTAGTGTTTGTAAATGGTTTGTTAGTACTGTGACCTAAACCAGGGGTGTCCAAAGTCGGTTCTGGAGGGCCGGCGTCCTGCAGATTTTAGCTCTAGCTTGCTTCTACACACCTGCAAGGGTGTTTCTAGAATGGCTAATAAGAGCTTGATTAGCTAGCCCAGGTGTGTCTGATTGGGGTTGAACTTAAAGGTGCAGTAGGTGATCTGCCAAAATG
Associated Phenotype:
Not determined