Incidental Mutation 'R6556:Camkk1'
Institutional Source Beutler Lab
Gene Symbol Camkk1
Ensembl Gene ENSMUSG00000020785
Gene Namecalcium/calmodulin-dependent protein kinase kinase 1, alpha
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6556 (G1)
Quality Score225.009
Status Not validated
Chromosomal Location73019008-73042073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 73033870 bp
Amino Acid Change Asparagine to Isoleucine at position 303 (N303I)
Ref Sequence ENSEMBL: ENSMUSP00000090613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092937] [ENSMUST00000145834]
Predicted Effect probably benign
Transcript: ENSMUST00000092937
AA Change: N303I

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785
AA Change: N303I

S_TKc 128 409 7.77e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145834
AA Change: N183I

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000123441
Gene: ENSMUSG00000020785
AA Change: N183I

S_TKc 8 291 2.15e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155720
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.5%
Validation Efficiency
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 protein plays a role in the calcium/calmodulin-dependent (CaM) kinase cascade. Three transcript variants encoding two distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and grossly normal but exhibit context fear deficits during both conditioning and long-term follow-up testing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700029P11Rik A G 15: 81,980,738 D60G probably damaging Het
2310035C23Rik T A 1: 105,726,440 F845I probably damaging Het
4930539E08Rik T A 17: 28,904,611 D114V probably damaging Het
AF366264 G A 8: 13,837,690 Q134* probably null Het
Atp2a1 G T 7: 126,450,262 P536Q probably benign Het
Cabyr T A 18: 12,751,016 S187T probably benign Het
Cdh13 C T 8: 118,968,187 P259S probably damaging Het
Csnk1g3 A G 18: 53,930,282 D255G possibly damaging Het
Dennd5b A C 6: 149,014,251 probably null Het
Dnajc14 A G 10: 128,814,631 D528G probably benign Het
Edem1 T C 6: 108,854,357 F593S probably benign Het
Erbb2 G A 11: 98,436,082 D1106N possibly damaging Het
Ermp1 T C 19: 29,612,921 M794V possibly damaging Het
Fam208a T G 14: 27,429,258 Y64D probably benign Het
Fam214b C T 4: 43,033,896 R460H probably damaging Het
Fip1l1 T A 5: 74,547,177 probably null Het
Gm11639 A G 11: 105,008,251 N4343S probably null Het
Gm20730 C T 6: 43,081,542 C112Y probably damaging Het
Gtf2h1 T A 7: 46,808,665 C245S probably damaging Het
Hdhd5 T C 6: 120,523,554 H61R probably benign Het
Ighv1-71 A T 12: 115,742,472 V31E probably damaging Het
Igsf9b T C 9: 27,329,555 F688S probably damaging Het
Iqcd T C 5: 120,602,378 V258A probably damaging Het
Kcnc2 G C 10: 112,271,856 G51R probably benign Het
Lpo G T 11: 87,817,763 Y136* probably null Het
Med30 A G 15: 52,730,383 probably benign Het
Mertk T A 2: 128,776,421 V524D probably benign Het
Olfr1156 T C 2: 87,949,976 I86V probably benign Het
Olfr1261 T A 2: 89,994,173 F260Y probably benign Het
Olfr1263 T C 2: 90,015,094 Y55H probably damaging Het
Pde6b T A 5: 108,421,501 M358K possibly damaging Het
Prep GA G 10: 45,158,314 probably null Het
Prpf4b G A 13: 34,896,032 R793Q probably damaging Het
Rela T A 19: 5,647,338 N524K probably damaging Het
Rnaset2a T C 17: 8,141,648 D74G probably damaging Het
Serinc2 T A 4: 130,258,271 I267F probably damaging Het
Sesn3 T C 9: 14,321,253 F274S possibly damaging Het
Spag1 T C 15: 36,195,407 Y249H probably damaging Het
Sstr1 A T 12: 58,213,692 D367V possibly damaging Het
Tnnt1 T C 7: 4,509,577 E110G probably damaging Het
Tpm1 T A 9: 67,028,169 probably null Het
Unc93b1 T C 19: 3,944,105 V412A probably benign Het
Uox G C 3: 146,624,648 probably null Het
Usp44 T C 10: 93,846,008 Y107H probably benign Het
Other mutations in Camkk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Camkk1 APN 11 73030801 critical splice acceptor site probably null
IGL02019:Camkk1 APN 11 73037201 missense probably damaging 0.99
IGL02054:Camkk1 APN 11 73025882 missense probably damaging 1.00
IGL02547:Camkk1 APN 11 73038433 missense probably benign 0.22
IGL02628:Camkk1 APN 11 73029169 splice site probably benign
PIT4651001:Camkk1 UTSW 11 73025821 missense probably benign
R1449:Camkk1 UTSW 11 73033884 missense probably damaging 0.96
R1573:Camkk1 UTSW 11 73027481 missense probably damaging 0.99
R3912:Camkk1 UTSW 11 73033816 missense probably benign 0.16
R4084:Camkk1 UTSW 11 73037865 missense probably damaging 1.00
R5284:Camkk1 UTSW 11 73037555 missense probably benign 0.00
R7329:Camkk1 UTSW 11 73027047 missense probably damaging 0.99
R7330:Camkk1 UTSW 11 73027047 missense probably damaging 0.99
R7723:Camkk1 UTSW 11 73037232 missense probably benign 0.01
R7787:Camkk1 UTSW 11 73026586 missense probably benign 0.14
R8300:Camkk1 UTSW 11 73027440 missense probably benign 0.34
X0066:Camkk1 UTSW 11 73037204 missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-06-06