AKAP9 (2 of 2)

Ensembl ID:
ENSDARG00000077668
Description:
A kinase (PRKA) anchor protein (yotiao) 9 [Source:HGNC Symbol;Acc:379]
Human Orthologue:
AKAP9
Human Description:
A kinase (PRKA) anchor protein (yotiao) 9 [Source:HGNC Symbol;Acc:379]
Mouse Orthologue:
Akap9
Mouse Description:
A kinase (PRKA) anchor protein (yotiao) 9 Gene [Source:MGI Symbol;Acc:MGI:2178217]

Alleles

There are 3 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa30706 Essential Splice Site Mutation detected in F1 DNA During 2018
sa32225 Splice Site, Nonsense Mutation detected in F1 DNA During 2018
sa29111 Nonsense Mutation detected in F1 DNA During 2018

Mutation Details

Allele Name:
sa30706
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 2018.
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113138 Essential Splice Site 45 467 2 10
Genomic Location (Zv9):
Chromosome 19 (position 497055)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 518047
GRCz11 19 517866
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TGATTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTAAC[A/T]GAGAGAGCAGGAGCTGCAGCAGATGAAGGACAGAGAAGACGACACTGAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa32225
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 2018.
Mutation:
C > T
Consequence:
Splice Site, Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113138 Splice Site, Nonsense 369 467 7 10
Genomic Location (Zv9):
Chromosome 19 (position 522086)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 541852
GRCz11 19 541661
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GCCGACAGCGGGACGCCATGAGGGACAGCGCTGGAGGAGGACCAGAGCTG[C/T]GTATGTGCTATACACACACACACACACTCAAACACACACACACACATATG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa29111
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 2018.
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000113138 Nonsense 429 467 9 10
Genomic Location (Zv9):
Chromosome 19 (position 527075)
Other Location(s):
Assembly Chromosome Position
GRCz10 19 547698
GRCz11 19 547507
KASP Assay ID:
2261-2708.1 (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TCAAGCAGCTGGAGGCGCAGCTGGAGGAGCAGCAGATGCGCTTGCAGGAG[C/T]AGCAGGAGCTCCAGCGCAGCCAGGAGGAGGACCTGCAGCAGCAGATACAG
Associated Phenotype:
Not determined

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