Incidental Mutation '7510:Camk4'
ID 136
Institutional Source Beutler Lab
Gene Symbol Camk4
Ensembl Gene ENSMUSG00000038128
Gene Name calcium/calmodulin-dependent protein kinase IV
Synonyms A430110E23Rik, D18Bwg0362e, Ca2+/calmodulin-dependent protein kinase type IV/Gr, CaMKIV, CaMKIV/Gr
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # 7510 (G3) of strain sublytic
Quality Score
Status Validated
Chromosome 18
Chromosomal Location 33067984-33324281 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 33289892 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Alanine to Serine at position 180 (A180S)
Ref Sequence ENSEMBL: ENSMUSP00000046539 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042868]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000042868
AA Change: A180S

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: A180S

DomainStartEndE-ValueType
low complexity region 4 21 N/A INTRINSIC
S_TKc 42 296 8.7e-106 SMART
low complexity region 318 344 N/A INTRINSIC
low complexity region 373 390 N/A INTRINSIC
low complexity region 415 428 N/A INTRINSIC
low complexity region 441 454 N/A INTRINSIC
Meta Mutation Damage Score 0.3564 question?
Coding Region Coverage
  • 1x: 86.9%
  • 3x: 65.5%
Validation Efficiency 84% (77/92)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the serine/threonine protein kinase family, and to the Ca(2+)/calmodulin-dependent protein kinase subfamily. This enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for different targeted mutations show variable phenotypes, including reduced viability, male and/or female sterility, and mild to severe neurological and spatial memory disorders. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(3) Targeted, other(1)

Other mutations in this stock
Total: 2 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy2 T C 12: 36,207,411 (GRCm39) V19A probably benign Het
Slc28a1 T C 7: 80,819,017 (GRCm39) V622A probably benign Het
Other mutations in Camk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0244:Camk4 UTSW 18 33,312,678 (GRCm39) critical splice donor site probably null
R0408:Camk4 UTSW 18 33,262,845 (GRCm39) missense probably damaging 1.00
R0744:Camk4 UTSW 18 33,072,507 (GRCm39) missense unknown
R0836:Camk4 UTSW 18 33,072,507 (GRCm39) missense unknown
R0903:Camk4 UTSW 18 33,315,383 (GRCm39) missense probably benign 0.08
R1449:Camk4 UTSW 18 33,072,528 (GRCm39) missense probably damaging 0.99
R1456:Camk4 UTSW 18 33,262,896 (GRCm39) splice site probably benign
R1677:Camk4 UTSW 18 33,309,275 (GRCm39) missense probably damaging 1.00
R1733:Camk4 UTSW 18 33,211,074 (GRCm39) missense possibly damaging 0.54
R1909:Camk4 UTSW 18 33,291,869 (GRCm39) splice site probably null
R2186:Camk4 UTSW 18 33,315,394 (GRCm39) missense probably damaging 0.99
R2291:Camk4 UTSW 18 33,240,996 (GRCm39) critical splice donor site probably null
R3874:Camk4 UTSW 18 33,291,907 (GRCm39) missense possibly damaging 0.70
R3968:Camk4 UTSW 18 33,312,634 (GRCm39) missense possibly damaging 0.94
R3969:Camk4 UTSW 18 33,312,634 (GRCm39) missense possibly damaging 0.94
R3970:Camk4 UTSW 18 33,312,634 (GRCm39) missense possibly damaging 0.94
R4858:Camk4 UTSW 18 33,309,266 (GRCm39) missense probably damaging 0.98
R5251:Camk4 UTSW 18 33,317,932 (GRCm39) missense probably benign 0.31
R5343:Camk4 UTSW 18 33,211,122 (GRCm39) missense probably damaging 0.99
R5972:Camk4 UTSW 18 33,240,979 (GRCm39) missense probably damaging 1.00
R6155:Camk4 UTSW 18 33,072,500 (GRCm39) missense unknown
R6728:Camk4 UTSW 18 33,317,992 (GRCm39) missense probably benign
R7088:Camk4 UTSW 18 33,072,584 (GRCm39) missense probably benign 0.02
R7135:Camk4 UTSW 18 33,240,996 (GRCm39) critical splice donor site probably null
R7372:Camk4 UTSW 18 33,318,178 (GRCm39) missense probably benign 0.34
R7490:Camk4 UTSW 18 33,072,598 (GRCm39) critical splice donor site probably null
R7525:Camk4 UTSW 18 33,318,085 (GRCm39) missense probably benign 0.04
R7890:Camk4 UTSW 18 33,318,058 (GRCm39) missense probably benign 0.01
R8446:Camk4 UTSW 18 33,289,810 (GRCm39) missense probably damaging 0.99
R9038:Camk4 UTSW 18 33,291,953 (GRCm39) nonsense probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified a G to T transversion at position 893 of the Camk4 transcript in exon 6 of 11 total exons. Two transcripts of the Camk4 gene are displayed on Ensembl. The mutation causes an alanine to serine change at amino acid 180 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Camk4 gene encodes a 469 amino acid protein that is a Calcium/calmodulin-dependent protein kinase. CaMK IV may be involved in transcriptional regulation, the regulation of microtubule dynamics, and spermatogenesis. The protein kinase domain occurs at residues 42-296 (Uniprot P08414). Homozygotes for different targeted mutations show variable phenotypes, including reduced viability, male and/or female sterility, and mild to severe neurological and spatial memory disorders.
 
The A180S change is predicted to be benign by the PolyPhen program.
Posted On 2010-03-12