Incidental Mutation 'IGL02547:Camkk1'
ID297887
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camkk1
Ensembl Gene ENSMUSG00000020785
Gene Namecalcium/calmodulin-dependent protein kinase kinase 1, alpha
SynonymsCaMKKalpha
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02547
Quality Score
Status
Chromosome11
Chromosomal Location73019008-73042073 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 73038433 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 455 (R455G)
Ref Sequence ENSEMBL: ENSMUSP00000090613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092937] [ENSMUST00000145834]
Predicted Effect probably benign
Transcript: ENSMUST00000092937
AA Change: R455G

PolyPhen 2 Score 0.223 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785
AA Change: R455G

DomainStartEndE-ValueType
S_TKc 128 409 7.77e-94 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000145834
AA Change: R292G

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000123441
Gene: ENSMUSG00000020785
AA Change: R292G

DomainStartEndE-ValueType
S_TKc 8 291 2.15e-87 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155720
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5430403G16Rik C T 5: 109,678,762 probably null Het
Akap6 T A 12: 53,140,696 L1631H probably damaging Het
Atf7ip T A 6: 136,603,276 probably benign Het
Atp5o A T 16: 91,928,961 Y48N probably damaging Het
Birc6 T G 17: 74,579,645 M656R probably benign Het
Casr A T 16: 36,515,674 M91K probably benign Het
Ccdc28a A T 10: 18,214,146 V124D possibly damaging Het
Ccnh T C 13: 85,202,504 probably benign Het
Cdc37 G T 9: 21,139,966 probably benign Het
Cdon A G 9: 35,478,654 D868G probably damaging Het
Cyp4f15 A G 17: 32,700,255 R351G probably benign Het
Dclk3 T C 9: 111,469,023 I545T probably damaging Het
Dock4 A G 12: 40,737,479 M798V probably benign Het
Gas7 A T 11: 67,665,435 Q200L probably damaging Het
Gm15448 T C 7: 3,821,661 D573G probably damaging Het
Gm4758 A T 16: 36,312,526 probably benign Het
Gm6614 A T 6: 141,990,390 L323Q probably damaging Het
Ica1 T C 6: 8,670,691 probably null Het
Idh3a T A 9: 54,592,395 V31D probably benign Het
Il3ra A T 14: 14,351,970 T247S probably benign Het
Itgb7 A G 15: 102,218,510 C497R probably damaging Het
Itm2c T C 1: 85,906,461 Y166H probably damaging Het
Mphosph8 A G 14: 56,672,484 D98G probably damaging Het
Mstn A T 1: 53,064,125 I207F probably benign Het
Muc15 A G 2: 110,731,305 R29G probably damaging Het
Neb T A 2: 52,188,730 T142S probably damaging Het
Nipbl G A 15: 8,351,598 T570I probably benign Het
Nr5a2 T A 1: 136,940,927 M196L probably benign Het
Nrp1 C A 8: 128,493,031 F643L probably benign Het
Olfr1098 A G 2: 86,923,028 F168S probably damaging Het
Olfr1441 A T 19: 12,422,311 M1L probably benign Het
Olfr600 A G 7: 103,346,244 F228S probably damaging Het
Olfr625-ps1 T C 7: 103,682,766 I16T probably benign Het
Osbpl9 C T 4: 109,068,483 W446* probably null Het
Pced1a T C 2: 130,419,707 D342G possibly damaging Het
Prkcd C A 14: 30,599,469 W555L probably damaging Het
Prpf31 T C 7: 3,630,899 S78P probably benign Het
Psg27 T C 7: 18,560,628 T285A probably benign Het
Retreg3 A T 11: 101,106,378 L92* probably null Het
Rmdn1 A G 4: 19,605,501 K282E possibly damaging Het
Sept8 G T 11: 53,537,265 R302L probably damaging Het
Serpina3a A G 12: 104,116,543 I192V probably damaging Het
Sgce T C 6: 4,711,301 probably benign Het
Spats1 A T 17: 45,474,817 probably benign Het
Tcerg1l C T 7: 138,248,371 probably null Het
Ttn A G 2: 76,729,386 V21230A probably damaging Het
Ubxn11 A C 4: 134,109,584 D41A possibly damaging Het
Vps13c T G 9: 67,908,019 I979S possibly damaging Het
Zc3h6 T A 2: 129,015,611 H683Q probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp629 T C 7: 127,611,674 probably null 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
IGL02628:Camkk1 APN 11 73029169 splice site 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
R6556:Camkk1 UTSW 11 73033870 missense probably benign 0.32
X0066:Camkk1 UTSW 11 73037204 missense probably benign 0.00
Posted On2015-04-16