MYOT

Ensembl ID:
ENSDARG00000076312
Description:
myotilin [Source:HGNC Symbol;Acc:12399]
Human Orthologue:
MYOT
Human Description:
myotilin [Source:HGNC Symbol;Acc:12399]
Mouse Orthologue:
Myot
Mouse Description:
myotilin Gene [Source:MGI Symbol;Acc:MGI:1889800]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa10641 Nonsense Available for shipment Available now
sa8775 Nonsense Mutation detected in F1 DNA During 2014
sa22435 Nonsense Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa10641
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115101 Nonsense 116 653 3 11
Genomic Location:
Chromosome 14 (position 12509728)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CACCAAAGGGAGTTAAAAACAGTGTTCCACATCCATTCCTTCTCACCAGC[A/T]AGCTGAATAAACAAGTAGAAYCCAAGGGCAGTGCCACGAATGTGGCTGAC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8775
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
ENSDART00000115101 Nonsense 206 653 3 11
Genomic Location:
Chromosome 14 (position 12509458)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTCATGCACCCACTCAGACATTAATGTGTTCCAGCATGACTTTGATTCCT[A/T]AAGCAAGGAGTACTCCAAACAGTGAGAATCTATCACCAGCAGCTTTCCTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa22435
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
ENSDART00000115101 Nonsense 423 653 7 11
Genomic Location:
Chromosome 14 (position 12487618)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GTACAGAAGCCTCTACCATCCAAGAGAAATGTTTTGCTCCTCGTTTTATA[C/T]AAGTGCCTCAAGATGTTACTGTTGAAGAGGGACGATTCTGCAGGATTGAT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/dspz9hhf