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 9 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa34085 Nonsense Mutation detected in F1 DNA During 2016
sa26964 Nonsense Mutation detected in F1 DNA During 2016
sa14578 Essential Splice Site Available for shipment Available now
sa38615 Essential Splice Site Mutation detected in F1 DNA During 2016
sa20959 Nonsense Mutation detected in F1 DNA During 2016
sa25364 Nonsense Mutation detected in F1 DNA During 2016
sa7596 Missense Mutation detected in F1 DNA During 2016
sa14254 Essential Splice Site Available for shipment Available now
sa40906 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa34085
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Nonsense 115 4852 1 77
Genomic Location (Zv9):
Chromosome 7 (position 30607873)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 29000215
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTTGCCACTGCCCTTCGCAAGCGGCTGCTGGTCCTGCAGCGGGTTTTTTA[T/A]GCACTTTCTAACAAATACCATGACAAGGGCAAAGTCAAACAGCAGCAGCA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26964
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Nonsense 143 4852 1 77
Genomic Location (Zv9):
Chromosome 7 (position 30607790)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 29000132
KASP Assay ID:
2259-8928.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGTCAAACAGCAGCAGCACTCGACCGAAAATACTATGGGTTCTGCGGACT[T/A]GCAAGCGGTAAGCGAGCGGCCGCGATCTAGCACAGATGCTCTTATTGAAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14578
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Essential Splice Site
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGATGGCCTTTGTTCCTTATATGAAGCTGCACTTTGCCTGTTTGAGGAGG[T/G]AACATGGTTATAAATATGTAAAACAACTGTATAAAAACANNATTTTATTTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa38615
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Essential Splice Site 402 4852 3 77
Genomic Location (Zv9):
Chromosome 7 (position 30606467)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28998809
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAAGATCCTCCAGCCCAAACTTGCTCCCAGCTTCAGTGATGCACAAACGG[T/A]AGAAAGCATCCTCAGATTATTCTTATTTTTTTCATTCTTCCTTTGATTTT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20959
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > A
Consequence:
Nonsense
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTCATCTGATAGCAGCCAACCAGCACACCTCCATGAACTGCTCTGCTCTT[T/A]GCAGAAACAACTGCTGGCCTATTGCCACATCAACAGTGTTACAGAGGTAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25364
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Nonsense 1125 4852 17 77
Genomic Location (Zv9):
Chromosome 7 (position 30588916)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28981258
KASP Assay ID:
554-7418.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTCCGGATCTGGTTGATCCAGTGTGTGTGTCAGGACCGGCACAGAGCTG[G/A]GTGTGGTTGGTGGATCTGGAGCGCACCGCAGCTCTGCTGGTGGGACGTTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa7596
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
C > T
Consequence:
Missense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Missense 1412 4852 22 77
Genomic Location (Zv9):
Chromosome 7 (position 30582312)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28974654
KASP Assay ID:
554-4306.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CCGGAAGCATGAGCGTGCAGGAAGAGCCTCCTCAGCCTGGTCCAGAGCGA[C/T]GCAACAGCWCGACCCCTCAGGAGGGACAGGATCTTTACACCACCTCCTGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14254
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > C
Consequence:
Essential Splice Site
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
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTGTCAGTCACATTAGAAAGAGCCCTGCAAGCAAACAAACACCACATAGG[T/C]AATGGACTCAAACTCATACACTGYTTTGATTCAGGTACCATTTGCTATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa40906
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2016.
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000109030 Nonsense 4550 4852 73 77
Genomic Location (Zv9):
Chromosome 7 (position 30532154)
Other Location(s):
Assembly Chromosome Position
GRCz10 7 28924496
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTAGTGGATCTTCTCATCCCTTCTCCAAATGCCGCAGCAGAGGTGGGCTA[T/G]AACAGAGACAGGTGAGTGCAGACCAACACCACTCTGAATGCTAGACTCCT
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Iris characteristics: GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

Register

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