Incidental Mutation 'IGL01762:Camkk1'
ID153290
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 #IGL01762
Quality Score
Status
Chromosome11
Chromosomal Location73019008-73042073 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to G at 73030801 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092937] [ENSMUST00000092937] [ENSMUST00000145834]
Predicted Effect probably null
Transcript: ENSMUST00000092937
SMART Domains Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785

DomainStartEndE-ValueType
S_TKc 128 409 7.77e-94 SMART
Predicted Effect probably null
Transcript: ENSMUST00000092937
SMART Domains Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785

DomainStartEndE-ValueType
S_TKc 128 409 7.77e-94 SMART
Predicted Effect probably null
Transcript: ENSMUST00000145834
SMART Domains Protein: ENSMUSP00000123441
Gene: ENSMUSG00000020785

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik T A 10: 43,174,851 L47* probably null Het
Abca13 A T 11: 9,315,423 T3033S probably benign Het
Atp1a2 C A 1: 172,284,913 V503L possibly damaging Het
BC030867 T C 11: 102,255,596 C233R probably benign Het
Cacna1e T A 1: 154,471,373 D770V possibly damaging Het
Cd34 T A 1: 194,939,033 M23K probably benign Het
Cndp1 T A 18: 84,622,286 I265F probably damaging Het
Cux2 A G 5: 121,873,145 I574T probably damaging Het
Fam129a T C 1: 151,636,491 V48A probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Galk1 A G 11: 116,010,008 Y236H probably damaging Het
Gbp11 T C 5: 105,327,607 I292V probably benign Het
Gprc5c A G 11: 114,864,024 I176V probably benign Het
Myh6 T C 14: 54,962,081 K258E probably benign Het
Nlrp9c T A 7: 26,385,425 D243V probably damaging Het
Nobox T G 6: 43,303,993 K516Q probably damaging Het
Nudcd3 A G 11: 6,150,560 S195P probably damaging Het
Pde10a T C 17: 8,942,918 I477T possibly damaging Het
Pgbd5 C T 8: 124,370,610 A394T probably damaging Het
Piezo1 G A 8: 122,487,929 R1553* probably null Het
Prkd1 T C 12: 50,387,230 I577V probably benign Het
Prss34 T C 17: 25,299,812 I256T probably benign Het
Ptprg A G 14: 12,037,386 T189A probably benign Het
Ptprr C T 10: 116,236,733 T200I probably damaging Het
Samd8 C T 14: 21,780,100 P198L probably damaging Het
Sema3c T C 5: 17,694,851 L447P possibly damaging Het
Slc22a23 A T 13: 34,204,001 F371I possibly damaging Het
Slc2a2 A G 3: 28,717,472 R184G probably damaging Het
Slitrk6 T A 14: 110,751,624 D217V probably damaging Het
Tlr2 A G 3: 83,836,994 V594A probably benign Het
Vmn2r109 A G 17: 20,554,392 F234L probably benign Het
Vmn2r12 A C 5: 109,086,564 L594R probably damaging Het
Vmn2r124 A G 17: 18,063,172 Q376R possibly damaging Het
Vmn2r7 T C 3: 64,691,435 D567G probably benign Het
Other mutations in Camkk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R6556:Camkk1 UTSW 11 73033870 missense probably benign 0.32
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
X0066:Camkk1 UTSW 11 73037204 missense probably benign 0.00
Posted On2014-02-04