LOC100332533

Ensembl ID:
ENSDARG00000058038
Human Orthologue:
EML3
Human Description:
echinoderm microtubule associated protein like 3 [Source:HGNC Symbol;Acc:26666]
Mouse Orthologue:
Eml3
Mouse Description:
echinoderm microtubule associated protein like 3 Gene [Source:MGI Symbol;Acc:MGI:2387612]

Alleles

There are 8 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa20885 Nonsense Mutation detected in F1 DNA During 2014
sa20886 Essential Splice Site Mutation detected in F1 DNA During 2014
sa8263 Essential Splice Site Mutation detected in F1 DNA During 2014
sa14586 Nonsense Available for shipment Available now
sa20887 Essential Splice Site Available for shipment Available now
sa17294 Essential Splice Site Available for shipment Available now
sa9328 Essential Splice Site Mutation detected in F1 DNA During 2014
sa18865 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa20885
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
ENSDART00000080834 Nonsense 57 976 2 24
Genomic Location:
Chromosome 7 (position 19107933)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGAAGTCCTCATTGGCCGATGCTTTACGCAGGCTCCGCCTCCATGACCAA[C/T]AGATACCCCTGCTTAAACAGCAGCTGATTGCTGGTATGAGCTTTCTTGCT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20886
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
ENSDART00000080834 Essential Splice Site 68 976 2 24
ENSDART00000080834 Essential Splice Site 68 976 2 24
Genomic Location:
Chromosome 7 (position 19107968)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CGCCTCCATGACCAACAGATACCCCTGCTTAAACAGCAGCTGATTGCTGG[T/G]ATGAGCTTTCTTGCTGTTTTTACAGTGTGCTACTGTACAGATATCACATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8263
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080834 Essential Splice Site 68 976 2 24
ENSDART00000080834 Essential Splice Site 68 976 2 24
Genomic Location:
Chromosome 7 (position 19107968)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CGCCTCCATGACCAACAGATACCCCTGCTTAAACAGCAGCTGATTGCTGG[T/A]ATGAGCTTTCTTRCTGTTTTTACAGTGTGCTACTGTACAGATRTCACATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa14586
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > G
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080834 Nonsense 384 976 9 24
Genomic Location:
Chromosome 7 (position 19127599)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TTGCCATCTGGAGAAGCAGTTTATTTTATTGCATGTGTGRTGGTTCTGTA[T/G]CATATCAGCAACCAAAAGCAAAGACATTATCGGAAGCACACAGAYTGTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20887
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
T > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080834 Essential Splice Site 463 976 11 24
Genomic Location:
Chromosome 7 (position 19129299)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCTCGGCATATTTGAGCGAGGTGTCGGAGCCATAGCATTTTCCAATTCAG[T/A]GAGTTTTGCCTTCAATTTTGCATTCTTTCCTGCTGAAACGCGACACAGAG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa17294
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080834 Essential Splice Site 638 976 16 24
Genomic Location:
Chromosome 7 (position 19139620)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GATTGTATAGCTTGTAAYCAGAAACWTTCTGAATGCTCTATGTTCTTCCA[G/T]ATTCCTGAGAAATTTKGAGCWGTGCGCACCATTGCAGATTTAGATGGAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa9328
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080834 Essential Splice Site 775 976 19 24
ENSDART00000080834 Essential Splice Site 775 976 19 24
Genomic Location:
Chromosome 7 (position 19141771)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
AGACCTGATTGACGGCAATGAACAGTTGTCTGTAATGAGATACTCACCAG[G/T]TCAGARTTCAACAAGATCATTGTGCAATCAWAATAATAATATAATACTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18865
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:
G > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000080834 Essential Splice Site 775 976 19 24
ENSDART00000080834 Essential Splice Site 775 976 19 24
Genomic Location:
Chromosome 7 (position 19141771)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
AGACCTGATTGACGGCAATGAACAGTTGTCTGTAATGAGATACTCACCAG[G/T]TCAGAGTTCAACAAGATCATTGTGCAATCAAAATAATAATATAATACTGT
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/9ov0j1ma