Busch Lab

ZMP

LOC569603

Ensembl ID:
ENSDARG00000077901
Human Orthologue:
HERC1
Human Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1
Mouse Orthologue:
Herc1
Mouse Description:
hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1

Alleles

There are 11 alleles of this gene:

Allele Name Consequence Status Availability
sa14578 Essential Splice Site Available for shipment Available now
sa20959 Nonsense Available for shipment Available now
sa14254 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa14578
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:
Essential Splice Site
Transcripts:
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Essential Splice Site 337 4852 2 77
Genomic Location (Zv9):
Chromosome 7 (position 30607116)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28999458
GRCz11 7 29270608
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
TGATGGCCTTTGTTCCTTATATGAAGCTGCACTTTGCCTGTTTGAGGAGG[T/G]AACATGGTTATAAATATGTAAAACAACTGTATAAAAACANNATTTTATTTTT
Long Flanking Sequence:
GTTCGCTTCCGCCGCTGTCTTTGGCCAACGAGAGTAAGATCCCTCCCATGGGTTTGGACTGCTTGGCTCAGGTCACTTCGTTTCTGAAAGGAGTGACCATGCGGAACTCTGGGGCTGATGTGGTGGGACGAAGGTTAGCGTGTGAGCTTCTGTTAGGCTTGGCGGCGCAACGAGGGTCTCTGAGGTACCTGCTGGAGTGGGTTGAGATGGCCCTCGCCGCATCAGCGGGAGTCAGCAGTCTGGAGCAGAGCCAGGAGGGGCTGATGGGATACGACTGCTTCATGAACATTCTGATGCAGATGAGACGATCACTGGTATGGTGCTGATTGAAACTCTCAAACACAGAAACCAATCTGCTTTCACAAATGATATTGTTAAACGACTGGTTGTGTGGTGATTTTAGGGTTCTTCTGCTGACCGGAGCCAGTGGAGAGAACCGACCCGCACTGCTGATGGCCTTTGTTCCTTATATGAAGCTGCACTTTGCCTGTTTGAGGAGG[T/G]AACATGGTTATAAATATGTAAAACAACTGTATAAAAACAATTTTATTTTTACTGTAAAAAGTACCATTTAAAGTGAAAGAAACAGAAACTAACATTCTGTATATCCTGAAAAAACATTAGGATATAAAGTAAAATGAACATTTACATTTTGCTGAAACCCACTTCTTAATTAATCTAGCAAATCTAAATAATGAGAGAATTTTAAAGTTATCTTAATTATTTTCAAATTTTCTGAATTCTTAACTTTTTCTTTAAAATTTGCCTTGCATTCTAAAACAATTGTCAGATGTTTTCCTTTCACTTCATTATCTTTTTATTACTGTTGTGAGCAATTCTTTTGTTCTCCTGAATCCAGTTTTCCAGTCTATTTTGCTGTATCAAAAAAATAGATTGTTTGAATGATAAATCATACCAGTTTTTATTTTAATTAATCAGTTGTCCTGATGTCACAGGTGTGCCGCATGGCCTCAGACTACTCAAGAACATGTGCGAGTCCGGAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20959
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
ENSDART00000109030 Nonsense 984 4852 14 77
Genomic Location (Zv9):
Chromosome 7 (position 30592669)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28985011
GRCz11 7 29256161
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
None
Flanking Sequence:
TTCATCTGATAGCAGCCAACCAGCACACCTCCATGAACTGCTCTGCTCTT[T/A]GCAGAAACAACTGCTGGCCTATTGCCACATCAACAGTGTTACAGAGGTAC
Long Flanking Sequence:
TCATTATTGTAGACTGAAGTAATTGACAGCTATGTTTTGTTCTATTGTTGGTAAGGGTTATAGGATTTGTGAATGGATATATCTGAAAAATAATAATAAAAATATAAAATCAAAAATTATCAAATGATTTAAATTTTAATATTTTTTTTTGATAAGTAAAAATCTTTTTTTAACTGGGATATTTGAAGAAATCCTTTGCATTTAGCCCTGTTAAAGTCAAAAATTTCATTCATAATGGTCTTAAAATTGTCTTTAAAAGTCTTAAATGTAACTTGGTGACACCTGTGGAAACTCTGCCTTTCAATCTTATGACCCAGTCTTAACATTGTAGCTATGTTGATGCCCAAGATCATCATCCTGCTCTTCAATATTTCTCTGTGTGTTAACTGGAAAGGACCAGGCGTTTGGAGAGCTGGAGAAGAACAGTGATAAGATCTTGCAGGGAACATCTTCATCTGATAGCAGCCAACCAGCACACCTCCATGAACTGCTCTGCTCTT[T/A]GCAGAAACAACTGCTGGCCTATTGCCACATCAACAGTGTTACAGAGGTACACACACACACACAAGCAAACACGCATTACCACATGTTCATTTGATTGAGTCTGAGAAGTCTGTGTGTTTTTCAGGGCTCCAGTAGTGTGGCACTTCTTCATAAACACCTGCAGTTGTTACTTCCTCACGCAACTGATATTTTCAATCGCTCTGCAACCCTTCTTAGAGAAAGCTCTGGGAATGGCAGCGTGCGTGAGAAGCTGCGGGGTATGCGAGTGCACACGTTCAAGCTTCACCCATTTAAATGTTAATGAACCTGCTAAATTTGCTTCTGTCTGGATGGTGTAGATGTGATCTACATGTCAGCAGCGGGCAGTATGCTGTGTCAGATTGTGACGTCGTTGCTGTTGTTGCCTGTTTGGGTGGCACGACCTCTGCTCAGCTTCCTCTTGGACCTGCTTCCCCCGCTGGACCGTCTCAACAAACTCCTGCCTGCAGCCACACCTCTAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14254
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
ENSDART00000109030 Essential Splice Site 1730 4852 27 77
Genomic Location (Zv9):
Chromosome 7 (position 30575957)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28968299
GRCz11 7 29239449
KASP Assay ID:
None (used for ordering genotyping assays)
KASP Sequence:
CTGTCAGTCACATTAGAAAGAGCCCTGCAAGCAAACAAACACCACATAGG[T/C]AATGGACTCAAACTCATACACTGYTTTGATTCAGGTACCATTTGCTATTA
Long Flanking Sequence:
ATGTTTCTTCAGATGACTTTCTTTGCTTTTAGCTGCAGCTTTTTCTGTTTTATGCATTTCTCTAGTTGCGTCTGGAAGCCCTTCATCAGATTGTGGTGTTGATTTCTGGGATGGAGGAGAAGAGCAGTCAGGCAGGCTCTGGAGCTGGACGCACAGGCCTCAGTTTTCACTCTGCATCTTTGCTAACTTCAGTCAGACTTCAGTTCCTGTCTGGATGTTTCGGCCTGGGGGCTGTCAGTTATGGAGGTCCAAAGGGGGAGAATGTCCAGCTACATCATTACCAGGTAAACTGTTGCACTGGTCTGACCTTTGAGATTAGAGCTACTCCTAAAACATTTTTTTAATAAACTGTATGCACATGCTTTATTTTTTTTGTAGGATGGAGTCAGAGCAGCCAAGAAGAGTTTACAGATGGAAATTCAGACCGCTGTGCATAAGATCTATCAGCAGCTGTCAGTCACATTAGAAAGAGCCCTGCAAGCAAACAAACACCACATAGG[T/C]AATGGACTCAAACTCATACACTGCTTTGATTCAGGTACCATTTGCTATTATTTTATTATGCTATATATACTGTAAAAATGATTTGGATTGCTGTGTGTGTGTGTGTCCAGAGGCCCAGCAGAGACTTCTATTGGTGACGGTGTTCGCATTAAGCGTGCGATACCAGCCGGTTGATGTTTCATTAGCTATTTCTAGTGGCCTTTTGGATGTTCTTTCTCAGCTTTGTGGAACAGAAACCCTTCTTGGACAAACTCTGCAACTCCTGCAAAAGCCTGCTGGTTCTCAGCTCAGCACTGCCCTTAAAGTGGCCAGCACCAGACTGTTACAGATACTGGCCATCAGCACTGGGTACAACACAACGTTTTATTTCATTATACGTCTGTTCATTTCAGAGGCAATGTGAAAGTCAGCTGCTTTGTTTTATATTCTGATTCTAGACATGAATCTTCTTTTTAAAACTTGTGGGTGTGGGGGTCCTTTTCCACAAAAAATATAAAGCA
Associated Phenotype:
Not determined