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 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20205 Nonsense Mutation detected in F1 DNA During 2014
sa9013 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20205
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 2014.
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 None 243 None 5
ENSDART00000138653 None None 144 None 4
Genomic Location:
Chromosome 4 (position 7895608)
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 2014.
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 None 243 None 5
ENSDART00000138653 None None 144 None 4
Genomic Location:
Chromosome 4 (position 7855381)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGAGCAGAAGAAAGAGGAGTGCATCAAACTGGAGAGTCAGCTCAAGAAG[G/A]TGAGCCCAGACACTTGAAGCATCAYRGCTAGCAAATACATCTCTCGTCTG
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/.)

Register

If you would like to be informed when the status of this gene changes (for example, a new allele is generated or an allele is made available for distribution) then please enter your details below:

* quick link - http://q.sanger.ac.uk/bq0xa6il