Incidental Mutation 'IGL00499:Camk1'
ID 5392
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk1
Ensembl Gene ENSMUSG00000030272
Gene Name calcium/calmodulin-dependent protein kinase I
Synonyms CaMKIalpha, D6Ertd263e, Camk
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00499
Quality Score
Status
Chromosome 6
Chromosomal Location 113311085-113320883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 113313172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 292 (E292G)
Ref Sequence ENSEMBL: ENSMUSP00000032409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000032409] [ENSMUST00000136263] [ENSMUST00000204834] [ENSMUST00000155543]
AlphaFold Q91YS8
Predicted Effect probably benign
Transcript: ENSMUST00000032406
SMART Domains Protein: ENSMUSP00000032406
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 141 4e-38 PFAM
ENDO3c 146 316 4.84e-35 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000032409
AA Change: E292G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
AA Change: E292G

DomainStartEndE-ValueType
S_TKc 20 276 5.03e-111 SMART
low complexity region 319 336 N/A INTRINSIC
low complexity region 358 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000136263
SMART Domains Protein: ENSMUSP00000144792
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 130 3e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147945
SMART Domains Protein: ENSMUSP00000116265
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Blast:ENDO3c 7 75 7e-46 BLAST
PDB:1KO9|A 7 104 1e-55 PDB
SCOP:d1ko9a1 8 82 1e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149497
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153067
Predicted Effect probably benign
Transcript: ENSMUST00000204834
SMART Domains Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 134 1.2e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156853
Predicted Effect probably benign
Transcript: ENSMUST00000155543
SMART Domains Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272

DomainStartEndE-ValueType
Pfam:Pkinase 8 162 1.4e-45 PFAM
Pfam:Pkinase_Tyr 9 162 1.7e-23 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Calcium/calmodulin-dependent protein kinase I is expressed in many tissues and is a component of a calmodulin-dependent protein kinase cascade. Calcium/calmodulin directly activates calcium/calmodulin-dependent protein kinase I by binding to the enzyme and indirectly promotes the phosphorylation and synergistic activation of the enzyme by calcium/calmodulin-dependent protein kinase I kinase. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930533K18Rik C A 10: 70,711,138 (GRCm39) noncoding transcript Het
Abcb9 T C 5: 124,215,301 (GRCm39) D480G possibly damaging Het
Adam26a A T 8: 44,021,896 (GRCm39) N531K possibly damaging Het
AW554918 A T 18: 25,553,122 (GRCm39) K542* probably null Het
Blk A G 14: 63,618,169 (GRCm39) F246L probably damaging Het
Ccdc88a C T 11: 29,449,341 (GRCm39) T261I probably benign Het
Cep290 A T 10: 100,379,189 (GRCm39) Q57L probably damaging Het
Cpsf1 A T 15: 76,484,416 (GRCm39) H688Q probably benign Het
Cryz T C 3: 154,310,579 (GRCm39) V13A possibly damaging Het
Dst A G 1: 34,329,504 (GRCm39) K6858R probably damaging Het
Dync2h1 A T 9: 7,168,700 (GRCm39) V371E possibly damaging Het
Eps8 C A 6: 137,499,886 (GRCm39) E181* probably null Het
Flt4 T C 11: 49,526,088 (GRCm39) I796T probably damaging Het
Gmps A G 3: 63,921,788 (GRCm39) N597S probably benign Het
Itgav T A 2: 83,633,339 (GRCm39) M1011K probably damaging Het
Kif16b A G 2: 142,699,244 (GRCm39) M112T probably damaging Het
Lig1 T C 7: 13,032,756 (GRCm39) probably null Het
Lrrc30 A G 17: 67,939,034 (GRCm39) F182S probably damaging Het
Oxsm A T 14: 16,242,076 (GRCm38) M231K probably damaging Het
Pnisr T C 4: 21,870,407 (GRCm39) probably null Het
Rsrc1 A T 3: 66,989,933 (GRCm39) probably benign Het
Setd1b A T 5: 123,296,810 (GRCm39) probably benign Het
Tbx6 A G 7: 126,380,701 (GRCm39) Y8C probably damaging Het
Tmem33 T C 5: 67,441,538 (GRCm39) Y196H probably damaging Het
Traf5 T C 1: 191,741,589 (GRCm39) D96G possibly damaging Het
Tsc22d1 T A 14: 76,656,357 (GRCm39) D945E probably damaging Het
Tubb2b T C 13: 34,312,329 (GRCm39) I155V probably benign Het
Usp13 T A 3: 32,935,560 (GRCm39) Y328N probably damaging Het
Usp17lc G A 7: 103,067,673 (GRCm39) D323N probably damaging Het
Usp17lc G A 7: 103,067,672 (GRCm39) M322I probably damaging Het
Zfp341 C T 2: 154,476,151 (GRCm39) T446I probably damaging Het
Zfp407 A G 18: 84,579,877 (GRCm39) L412P probably damaging Het
Zfp521 T A 18: 14,072,177 (GRCm39) D21V probably benign Het
Zranb1 A G 7: 132,584,233 (GRCm39) probably benign Het
Other mutations in Camk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01063:Camk1 APN 6 113,315,333 (GRCm39) missense probably damaging 0.98
R0415:Camk1 UTSW 6 113,318,852 (GRCm39) nonsense probably null
R0944:Camk1 UTSW 6 113,315,352 (GRCm39) missense probably damaging 1.00
R2342:Camk1 UTSW 6 113,318,942 (GRCm39) splice site probably benign
R5646:Camk1 UTSW 6 113,316,301 (GRCm39) missense probably damaging 0.99
R6734:Camk1 UTSW 6 113,311,345 (GRCm39) missense probably benign 0.00
R6749:Camk1 UTSW 6 113,311,486 (GRCm39) missense probably benign 0.02
R7015:Camk1 UTSW 6 113,318,887 (GRCm39) missense probably benign
R7041:Camk1 UTSW 6 113,316,475 (GRCm39) missense probably benign 0.03
R7355:Camk1 UTSW 6 113,315,307 (GRCm39) missense probably damaging 1.00
R7575:Camk1 UTSW 6 113,315,325 (GRCm39) missense probably damaging 1.00
R7686:Camk1 UTSW 6 113,313,158 (GRCm39) missense probably damaging 1.00
R7748:Camk1 UTSW 6 113,317,289 (GRCm39) missense probably damaging 0.96
R8725:Camk1 UTSW 6 113,315,109 (GRCm39) missense probably damaging 0.99
R9622:Camk1 UTSW 6 113,318,850 (GRCm39) missense possibly damaging 0.53
Posted On 2012-04-20