Incidental Mutation 'R7041:Camk1'
ID 547053
Institutional Source Beutler Lab
Gene Symbol Camk1
Ensembl Gene ENSMUSG00000030272
Gene Name calcium/calmodulin-dependent protein kinase I
Synonyms CaMKIalpha, D6Ertd263e, Camk
MMRRC Submission 045140-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7041 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 113311085-113320883 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 113316475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 95 (M95L)
Ref Sequence ENSEMBL: ENSMUSP00000032409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032409] [ENSMUST00000155543]
AlphaFold Q91YS8
Predicted Effect probably benign
Transcript: ENSMUST00000032409
AA Change: M95L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000032409
Gene: ENSMUSG00000030272
AA Change: M95L

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: ENSMUST00000155543
AA Change: M51L

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000117749
Gene: ENSMUSG00000030272
AA Change: M51L

DomainStartEndE-ValueType
Pfam:Pkinase 8 162 1.4e-45 PFAM
Pfam:Pkinase_Tyr 9 162 1.7e-23 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (53/55)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G T 7: 78,748,096 (GRCm39) E956* probably null Het
Adam25 A T 8: 41,207,121 (GRCm39) H129L probably benign Het
Adgrl4 A T 3: 151,144,959 (GRCm39) H36L probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Anapc1 A T 2: 128,470,576 (GRCm39) V1518E possibly damaging Het
Atxn1 A G 13: 45,720,311 (GRCm39) I528T probably damaging Het
B4galnt4 A G 7: 140,650,593 (GRCm39) H820R probably damaging Het
Cacna1h T C 17: 25,612,977 (GRCm39) E282G probably damaging Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Cav1 A G 6: 17,339,143 (GRCm39) E45G possibly damaging Het
Ccdc183 T G 2: 25,503,682 (GRCm39) E185A probably benign Het
Ccl2 T A 11: 81,926,489 (GRCm39) M1K probably null Het
Cep97 T A 16: 55,726,117 (GRCm39) H590L probably benign Het
Dsg1c A T 18: 20,399,201 (GRCm39) I102F probably damaging Het
Fcho2 A G 13: 98,921,334 (GRCm39) Y184H possibly damaging Het
Gart C T 16: 91,440,031 (GRCm39) probably benign Het
Gask1a A T 9: 121,794,467 (GRCm39) Q207L probably damaging Het
Golga3 G A 5: 110,356,450 (GRCm39) probably null Het
Hint3 G T 10: 30,486,380 (GRCm39) A133E probably damaging Het
Hspe1 T C 1: 55,128,376 (GRCm39) probably null Het
Insr A T 8: 3,308,418 (GRCm39) V206E probably benign Het
Insrr T C 3: 87,722,551 (GRCm39) S1258P probably damaging Het
Itga11 C T 9: 62,659,538 (GRCm39) T430M probably damaging Het
Jmjd1c G A 10: 67,056,388 (GRCm39) V890I possibly damaging Het
Kdm4b T A 17: 56,703,592 (GRCm39) S717R probably damaging Het
Large1 A T 8: 73,843,092 (GRCm39) C144S probably damaging Het
Lrat G T 3: 82,810,755 (GRCm39) Q89K probably benign Het
Lrrc66 A T 5: 73,765,899 (GRCm39) F381L possibly damaging Het
Myo15a A G 11: 60,396,832 (GRCm39) T2634A probably damaging Het
Nup205 T G 6: 35,201,470 (GRCm39) I1182M possibly damaging Het
Or2a51 T A 6: 43,178,837 (GRCm39) D86E probably benign Het
Or5m10 A T 2: 85,717,965 (GRCm39) I274F probably benign Het
Or6c66 T A 10: 129,461,603 (GRCm39) E109V probably damaging Het
Plekha6 T A 1: 133,200,198 (GRCm39) V259D possibly damaging Het
Prdm9 C A 17: 15,765,257 (GRCm39) A508S possibly damaging Het
Prickle2 A G 6: 92,353,286 (GRCm39) F783L probably benign Het
Ptprc T C 1: 138,054,047 (GRCm39) S31G probably benign Het
Rbak A T 5: 143,159,226 (GRCm39) I609N probably damaging Het
Rimklb A T 6: 122,436,176 (GRCm39) L134* probably null Het
Ripor2 A G 13: 24,877,749 (GRCm39) I250V probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spaca6 C T 17: 18,056,358 (GRCm39) L118F probably benign Het
Tmem167 G A 13: 90,246,533 (GRCm39) C19Y probably benign Het
Togaram1 C T 12: 65,067,160 (GRCm39) T1684I possibly damaging Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Ubash3a A G 17: 31,447,184 (GRCm39) S347G probably benign Het
Unc80 T C 1: 66,542,752 (GRCm39) S289P probably benign Het
Vmn2r11 A G 5: 109,202,816 (GRCm39) I87T probably damaging Het
Vmn2r54 A T 7: 12,363,751 (GRCm39) F381I probably damaging Het
Wdsub1 A G 2: 59,683,224 (GRCm39) L450P probably damaging Het
Xylt2 A G 11: 94,558,408 (GRCm39) probably null Het
Zfp429 A T 13: 67,538,830 (GRCm39) C205S probably damaging Het
Zfp60 T C 7: 27,448,451 (GRCm39) I373T probably benign Het
Zfp738 A G 13: 67,818,420 (GRCm39) S524P probably damaging Het
Other mutations in Camk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00499:Camk1 APN 6 113,313,172 (GRCm39) missense probably benign 0.00
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
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
Predicted Primers PCR Primer
(F):5'- AGGTCGTGCAGGTACTTGAC -3'
(R):5'- CCAGTGCTTGCTTGCTAGTC -3'

Sequencing Primer
(F):5'- TGCAGGTACTTGACAGCATC -3'
(R):5'- AGTCTTTTCTTACCTTCTAGCATCAG -3'
Posted On 2019-05-13