camk2b1

Ensembl ID:
ENSDARG00000011065
ZFIN IDs:
ZDB-GENE-030131-9588, ZDB-GENE-070615-17, ZDB-GENE-070615-17
Description:
Novel protein similar to vertebrate calcium/calmodulin-dependent protein kinase (CaM kinase) II gamm
Human Orthologue:
CAMK2B
Human Description:
calcium/calmodulin-dependent protein kinase II beta [Source:HGNC Symbol;Acc:1461]
Mouse Orthologue:
Camk2b
Mouse Description:
calcium/calmodulin-dependent protein kinase II, beta Gene [Source:MGI Symbol;Acc:MGI:88257]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa8182 Nonsense Mutation detected in F1 DNA During 2014
sa20381 Nonsense Available for shipment Available now
sa10362 Essential Splice Site Available for shipment Available now
sa18507 Essential Splice Site Available for shipment Available now
sa18200 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa8182
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:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044753 Nonsense 33 351 2 14
ENSDART00000098667 Nonsense 33 590 2 21
ENSDART00000133461 Nonsense 33 618 2 22
Genomic Location:
Chromosome 5 (position 22807229)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
TCTTTTTTTCCYCAGGGGAGCCTTTTCAGTGGTGCGACGATGTGTAAAGT[T/A]GAGCACAGGACAAGAATATGCCGCCAAAAYCATCAACACCAAAAAACTGT
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa20381
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
C > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044753 Nonsense 59 351 3 14
ENSDART00000098667 Nonsense 59 590 3 21
ENSDART00000133461 Nonsense 59 618 3 22
Genomic Location:
Chromosome 5 (position 22795561)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
TAAGTTTAATAAATATTTTTGTTTGATTTTCAGATCATCAGAAGCTGGAA[C/T]GAGAAGCTCGAATCTGTCGTTTGCTGAAACACCCTAACATCGGTAAGCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa10362
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
Genomic Location:
Chromosome 5 (position 22721049)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAACCTGGTGGAGGGGATGGACTTCCACAGATTTTACTTTGAGAACCG[T/G]GAGTGTTACTGCTTCTCACTTTTGTCCWGTTATTTGTGATGGCTRATCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18507
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
Genomic Location:
Chromosome 5 (position 22721049)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAACCTGGTGGAGGGGATGGACTTCCACAGATTTTACTTTGAGAACCG[T/G]GAGTGTTACTGCTTCTCACTTTTGTCCWGTTATTTGTGATGGCTRATCTG
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18200
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:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
ENSDART00000044753 None None 351 None 14
ENSDART00000098667 Essential Splice Site 514 590 20 21
ENSDART00000133461 Essential Splice Site 542 618 20 22
Genomic Location:
Chromosome 5 (position 22721049)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAACCTGGTGGAGGGGATGGACTTCCACAGATTTTACTTTGAGAACCG[T/G]GAGTGTTACTGCTTCTCACTTTTGTCCWGTTATTTGTGATGGCTRATCTG
Associated Phenotype:
Not determined

GWAS

This gene's human homologue has been identified in the following GWAS studies:

  • Metabolic syndrome: Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits. (View Study)

(GWAS data comes from http://www.genome.gov/gwastudies/.)

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/v2ic1mwa