Incidental Mutation 'IGL01063:Camk1'
ID51233
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camk1
Ensembl Gene ENSMUSG00000030272
Gene Namecalcium/calmodulin-dependent protein kinase I
SynonymsD6Ertd263e, CaMKIalpha
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01063
Quality Score
Status
Chromosome6
Chromosomal Location113334124-113343984 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 113338372 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Valine at position 155 (D155V)
Ref Sequence ENSEMBL: ENSMUSP00000032409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032406] [ENSMUST00000032409] [ENSMUST00000136263] [ENSMUST00000155543] [ENSMUST00000204834]
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 damaging
Transcript: ENSMUST00000032409
AA Change: D155V

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
AA Change: D155V

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 possibly damaging
Transcript: ENSMUST00000155543
AA Change: D111V

PolyPhen 2 Score 0.714 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272
AA Change: D111V

DomainStartEndE-ValueType
Pfam:Pkinase 8 162 1.4e-45 PFAM
Pfam:Pkinase_Tyr 9 162 1.7e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156512
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156853
Predicted Effect probably benign
Transcript: ENSMUST00000204834
SMART Domains Protein: ENSMUSP00000144905
Gene: ENSMUSG00000030271

DomainStartEndE-ValueType
Pfam:OGG_N 25 134 1.2e-27 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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
4930444P10Rik A T 1: 16,078,646 L61* probably null Het
Abca7 T C 10: 80,011,297 I1705T probably damaging Het
Ablim1 T A 19: 57,061,328 I393F probably damaging Het
Adamts5 A G 16: 85,899,834 L145P probably damaging Het
Ano6 T C 15: 95,948,429 I537T probably damaging Het
AU018091 T C 7: 3,162,313 I190V possibly damaging Het
Cdh6 A C 15: 13,064,495 I103S probably damaging Het
Cntnap1 A G 11: 101,181,788 D537G probably benign Het
Col6a3 T C 1: 90,802,332 K1144E probably damaging Het
Cpeb1 T A 7: 81,372,181 E71D probably benign Het
Cps1 T C 1: 67,195,166 L904P possibly damaging Het
Cyfip1 T A 7: 55,904,210 F700I probably damaging Het
Dmp1 G A 5: 104,207,099 M1I probably null Het
Efcab6 A T 15: 84,054,512 M1K probably null Het
Extl2 A T 3: 116,027,482 H312L possibly damaging Het
Fat4 C A 3: 38,890,579 A1207D possibly damaging Het
Flnb T C 14: 7,926,518 probably benign Het
Hdac10 G T 15: 89,123,868 A593E possibly damaging Het
Hdhd2 T C 18: 76,965,273 probably null Het
Kcnq2 A G 2: 181,109,789 probably benign Het
Kdm7a A G 6: 39,165,130 F405L probably damaging Het
Lypd6b C A 2: 49,943,630 probably benign Het
Mki67 A T 7: 135,694,922 D2794E possibly damaging Het
Mtmr14 T A 6: 113,266,326 F40I probably damaging Het
Olfr131 G T 17: 38,082,653 S108R possibly damaging Het
Olfr213 T A 6: 116,541,007 C185S probably damaging Het
Olfr476 A T 7: 107,967,534 I46F probably damaging Het
Olfr986 A T 9: 40,187,756 I214F probably benign Het
Ppargc1a C A 5: 51,474,322 V322L probably benign Het
Ppfibp1 T A 6: 147,029,697 M917K probably benign Het
Prkg2 C T 5: 98,969,936 probably null Het
Rfx4 A G 10: 84,868,382 E296G possibly damaging Het
Rfx8 T A 1: 39,682,950 K292* probably null Het
Scamp3 C A 3: 89,177,666 probably benign Het
Scn4a A T 11: 106,330,364 I823N possibly damaging Het
Sdk2 A G 11: 113,830,842 V1316A probably damaging Het
Setd2 T C 9: 110,573,673 V1794A probably damaging Het
Stard8 G T X: 99,073,088 R983L probably damaging Het
Tbc1d23 A T 16: 57,192,675 D311E probably benign Het
Tex21 T C 12: 76,198,818 H568R probably benign Het
Tex35 T C 1: 157,105,097 probably benign Het
Tgs1 T A 4: 3,591,292 F442I possibly damaging Het
Traf2 C A 2: 25,524,919 C303F probably benign Het
Trim56 A T 5: 137,114,500 V54D possibly damaging Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Zfp668 A T 7: 127,866,282 C577S probably damaging Het
Other mutations in Camk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Camk1 APN 6 113336211 missense probably benign 0.00
R0415:Camk1 UTSW 6 113341891 nonsense probably null
R0944:Camk1 UTSW 6 113338391 missense probably damaging 1.00
R2342:Camk1 UTSW 6 113341981 splice site probably benign
R5646:Camk1 UTSW 6 113339340 missense probably damaging 0.99
R6734:Camk1 UTSW 6 113334384 missense probably benign 0.00
R6749:Camk1 UTSW 6 113334525 missense probably benign 0.02
R7015:Camk1 UTSW 6 113341926 missense probably benign
R7041:Camk1 UTSW 6 113339514 missense probably benign 0.03
R7355:Camk1 UTSW 6 113338346 missense probably damaging 1.00
R7575:Camk1 UTSW 6 113338364 missense probably damaging 1.00
R7686:Camk1 UTSW 6 113336197 missense probably damaging 1.00
R7748:Camk1 UTSW 6 113340328 missense probably damaging 0.96
R8725:Camk1 UTSW 6 113338148 missense probably damaging 0.99
Posted On2013-06-21