FBXL13

Ensembl ID:
ENSDARG00000076191
Description:
F-box and leucine-rich repeat protein 13 [Source:HGNC Symbol;Acc:21658]
Human Orthologue:
FBXL13
Human Description:
F-box and leucine-rich repeat protein 13 [Source:HGNC Symbol;Acc:21658]
Mouse Orthologue:
Fbxl13
Mouse Description:
F-box and leucine-rich repeat protein 13 Gene [Source:MGI Symbol;Acc:MGI:2443416]

Alleles

There are 2 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa44274 Nonsense Mutation detected in F1 DNA During 2016
sa17674 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa44274
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
ENSDART00000111425 Nonsense 138 767 5 21
Genomic Location:
Chromosome 25 (position 19267490)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AAGATGAAGGCTGCCCGGCTCCTTGAAAGAATGGAGGAGGCTGAGATGTA[T/A]CACACACAGAGAAGGATAAAACTGGCTTTCATAAAGTGGACAGCATGGGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17674
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
ENSDART00000111425 Essential Splice Site 200 767 6 21
Genomic Location:
Chromosome 25 (position 19265251)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTTGGCGTCATGTTGTGCAGGACRCTAAAAGAACAAAGGAATACTTTAAG[G/A]TATAATTATTAAAACARTCARCTAAACCCAAATGCATTGAATTCAWGAGA
Associated Phenotype:
Not determined

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