erc1b

Ensembl ID:
ENSDARG00000031930
ZFIN ID:
ZDB-GENE-041210-51
Description:
Novel protein similar to vertebrate Rab6-interacting protein 2 (RAB6IP2) [Source:UniProtKB/TrEMBL;Ac
Human Orthologue:
ERC1
Human Description:
ELKS/RAB6-interacting/CAST family member 1 [Source:HGNC Symbol;Acc:17072]
Mouse Orthologue:
Erc1
Mouse Description:
ELKS/RAB6-interacting/CAST family member 1 Gene [Source:MGI Symbol;Acc:MGI:2151013]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa31376 Nonsense Available for shipment Available now
sa20205 Nonsense Available for shipment Available now
sa9013 Essential Splice Site Mutation detected in F1 DNA During 2018
sa33386 Essential Splice Site Mutation detected in F1 DNA During 2018
sa26218 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa31376
Current 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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027829 Nonsense 5 606 1 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
Genomic Location (Zv9):
Chromosome 4 (position 7895695)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 8263084
GRCz11 4 8270971
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAATAATAGTGTTTTAACGCACGTTAGCTGTCACTTCATGCATCTGTAC[C/T]AATGTCTTTTTCCCTGCGCATTTCAGGTCGATGCTCTGCGTTTGCGTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20205
Current 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:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027829 Nonsense 34 606 1 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
Genomic Location (Zv9):
Chromosome 4 (position 7895608)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 8263171
GRCz11 4 8271058
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGCGTTTGCGTCTGGAGGAGAAGGAGGCCACGCTGAATAAAAAGAGCAAG[C/T]AGATTCAAGAGGTGTCGGAGGAGAAAGGCACGCTCAACGGAGAAATTCAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9013
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 2018.
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027829 Essential Splice Site 209 606 4 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
ENSDART00000027829 Essential Splice Site 209 606 4 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
Genomic Location (Zv9):
Chromosome 4 (position 7855381)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 8303398
GRCz11 4 8306078
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGAGCAGAAGAAAGAGGAGTGCATCAAACTGGAGAGTCAGCTCAAGAAG[G/A]TGAGCCCAGACACTTGAAGCATCAYRGCTAGCAAATACATCTCTCGTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa33386
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 2018.
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027829 Essential Splice Site 209 606 4 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
ENSDART00000027829 Essential Splice Site 209 606 4 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
Genomic Location (Zv9):
Chromosome 4 (position 7855381)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 8303398
GRCz11 4 8306078
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TTGAGCAGAAGAAAGAGGAGTGCATCAAACTGGAGAGTCAGCTCAAGAAG[G/T]TGAGCCCAGACACTTGAAGCATCACGGCTAGCAAATACATCTCTCGTCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa26218
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 2018.
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027829 Nonsense 330 606 7 12
ENSDART00000132647   None 243 None 5
ENSDART00000138653   None 144 None 4
Genomic Location (Zv9):
Chromosome 4 (position 7805703)
Other Location(s):
Assembly Chromosome Position
GRCz10 4 8353076
GRCz11 4 8354330
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GATGTTTTTTTTATTCTTAGGATTCTTTGCGGCTGAAAGACGATCGCATC[G/T]AGGAGCTGGAGGAGGCTTTGCGTGAGAGCGTTCAGATCACTGCTGAGAGA
Associated Phenotype:
Not determined

GWAS

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

  • Bone mineral density: Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. (View Study)

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

OMIM

OMIM information for ERC1

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