LOC566321

Ensembl ID:
ENSDARG00000076996
Human Orthologue:
IPO13
Human Description:
importin 13 [Source:HGNC Symbol;Acc:16853]
Mouse Orthologue:
Ipo13
Mouse Description:
importin 13 Gene [Source:MGI Symbol;Acc:MGI:2385205]

Alleles

There are 4 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa13443 Nonsense Available for shipment Available now
sa19666 Nonsense Mutation detected in F1 DNA During 2014
sa18717 Essential Splice Site Mutation detected in F1 DNA During 2014
sa3421 Essential Splice Site Mutation detected in F1 DNA During 2014

Mutation Details

Allele Name:
sa13443
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115202 Nonsense 363 961 6 22
Genomic Location:
Chromosome 2 (position 5813741)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TGGACACTATCCAGTGGACGAGACCTCCAGCTCCCTCACGCTCACATTTT[G/A]GTACACCCTACAGGTACAAGTCCACCCAGAAACATCAMTGAAACATGATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa19666
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115202 Nonsense 492 961 9 22
Genomic Location:
Chromosome 2 (position 5811202)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCGCTGAGACCGTAGATGTCAGCTATTCGGACGTCATTCCAGGACTGATC[G/T]GATTGATTCCTCTCATCACAGCAAACAACATTCAACTGGCCGAGACCATC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18717
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115202 Essential Splice Site 797 961 17 22
ENSDART00000115202 Essential Splice Site 797 961 17 22
Genomic Location:
Chromosome 2 (position 5799707)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
CTAGAGATCATCCAGATGTGGTGGAGTCATTCATGCAGCTTCACACTCAG[G/A]TCGGGGCGCTACCATTTGTTTGACACTAGTCTGAATATTTGTATACATTA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa3421
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 > A
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000115202 Essential Splice Site 797 961 17 22
ENSDART00000115202 Essential Splice Site 797 961 17 22
Genomic Location:
Chromosome 2 (position 5799707)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CTAGAGATCATCCAGATGTGGTGGAGTCATTCATGCAGCTTCACACTCAG[G/A]TCGGGGCGCTACCATTTGTTTGACAYTAGTCTGAATATTTGYATACATTA
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/jx58bwou