EPB41L3 (2 of 2)

Ensembl ID:
ENSDARG00000002255
Description:
erythrocyte membrane protein band 4.1-like 3 [Source:HGNC Symbol;Acc:3380]
Human Orthologue:
EPB41L3
Human Description:
erythrocyte membrane protein band 4.1-like 3 [Source:HGNC Symbol;Acc:3380]
Mouse Orthologue:
Epb4.1l3
Mouse Description:
erythrocyte protein band 4.1-like 3 Gene [Source:MGI Symbol;Acc:MGI:103008]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa14659 Essential Splice Site Available for shipment Available now
sa4274 Essential Splice Site Mutation detected in F1 DNA During 2014
sa25219 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa14659
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022349 Essential Splice Site 142 821 8 26
ENSDART00000130310 Essential Splice Site 142 825 8 27
Genomic Location:
Chromosome 24 (position 43686740)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCATGAGTCTCTGAACACTGAGTCGCGATTCACCTGAACGATTCCTTTC[A/T]GAACTKGCTGGATCCTGCCAAAGACATGAAGAAGCAGATCCGAGGTGACG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa4274
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:
T > G
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022349 Essential Splice Site 334 821 14 26
ENSDART00000130310 Essential Splice Site 334 825 14 27
Genomic Location:
Chromosome 24 (position 43679849)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATCTCCTACAAACGCAATAACTTCTACATCAAGATCCGCCCCGGAGAGG[T/G]GAGAGCGCCWTCTGCTGTACACGGCTCACATTTACTGAACTCTGCATAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa25219
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 > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000022349 Nonsense 753 821 24 26
ENSDART00000130310 Nonsense 757 825 25 27
Genomic Location:
Chromosome 24 (position 43662596)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGACATAAAGACACTCACACTCTGGCAAACATACACACACTCATACATAT[A/T]GACATACTCTCATATGCATGCACGTACACACACACACTCCCAGACAAACA
Associated Phenotype:
Not determined

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/2ojqdftc