erc1a

Ensembl ID:
ENSDARG00000009941
ZFIN IDs:
ZDB-GENE-091214-5, ZDB-GENE-091214-5
Description:
ELKS [Source:RefSeq peptide;Acc:NP_001015065]
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 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa44299 Essential Splice Site Mutation detected in F1 DNA During 2016
sa24672 Essential Splice Site Available for shipment Available now
sa24673 Nonsense Mutation detected in F1 DNA During 2016

Mutation Details

Allele Name:
sa44299
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 > C
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000012923 Essential Splice Site 229 970 1 17
ENSDART00000041169 Essential Splice Site 229 966 1 16
Genomic Location:
Chromosome 25 (position 21851934)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AATATCAGTGTGGAAGGAGCAGTACCGCGCTGTGCAAGATGAGACACAGG[T/C]GGGTACATCTGGCAGGGTATGCTTGTTTTTTAAGCATAAGTGGACGTTTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24672
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000012923 Essential Splice Site 355 970 2 17
ENSDART00000041169 Essential Splice Site 355 966 2 16
Genomic Location:
Chromosome 25 (position 21865203)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGGAGAACCTGCTAGAACAGCGGGATAAAGAGCTGGTGGCTCTCAGAGAG[G/A]TGTGTGACAACTGGAGATGAAACATACATTACAAAATATTACATTTATAT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa24673
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000012923 Nonsense 780 970 12 17
ENSDART00000041169 Nonsense 776 966 11 16
Genomic Location:
Chromosome 25 (position 21892356)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCAAACACAAGGAGCCGCCGGGAAAGGGCAGAAATGTCAACGATGGCCCA[C/T]AGCAGGTGAGGTGAACAGAGAGATGGTTATGACAGTTCTGTCTCTTTTGA
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:

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