tfe3a

Ensembl ID:
ENSDARG00000004729
ZFIN ID:
ZDB-GENE-010919-2
Description:
transcription factor binding to IGHM enhancer 3a [Source:RefSeq peptide;Acc:NP_571923]
Human Orthologue:
TFE3
Human Description:
transcription factor binding to IGHM enhancer 3 [Source:HGNC Symbol;Acc:11752]
Mouse Orthologue:
Tcfe3
Mouse Description:
transcription factor E3 Gene [Source:MGI Symbol;Acc:MGI:98511]

Alleles

There is 1 allele of this gene:

Allele name Consequence Status Availability Estimate
sa7120 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa7120
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:
A > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000027928 Essential Splice Site 82 539 3 10
ENSDART00000112695 Essential Splice Site 82 539 3 11
ENSDART00000145577 None None 291 None 6
Genomic Location:
Chromosome 8 (position 8337717)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGTGTAGCRTGGTACTCTAAGCTGATTTACCTTCYCATGGTCTGCCCTGT[A/G]GTGGCTCTCTGACCTCTGCTGACYCYGTGACCCCAGCCGGCTCCRTGATG
Associated Phenotype:
Not determined

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* quick link - http://q.sanger.ac.uk/ym15zt1d