Incidental Mutation 'IGL02019:Camkk1'
ID 183877
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Camkk1
Ensembl Gene ENSMUSG00000020785
Gene Name calcium/calmodulin-dependent protein kinase kinase 1, alpha
Synonyms CaMKKalpha
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02019
Quality Score
Status
Chromosome 11
Chromosomal Location 72909834-72932899 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 72928027 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 233 (F233L)
Ref Sequence ENSEMBL: ENSMUSP00000123441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000092937] [ENSMUST00000145834]
AlphaFold Q8VBY2
Predicted Effect probably benign
Transcript: ENSMUST00000092937
AA Change: F353L

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785
AA Change: F353L

DomainStartEndE-ValueType
S_TKc 128 409 7.77e-94 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000145834
AA Change: F233L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123441
Gene: ENSMUSG00000020785
AA Change: F233L

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik C T 5: 115,017,645 (GRCm39) A178V possibly damaging Het
Acad11 A G 9: 103,992,544 (GRCm39) I495M probably damaging Het
Adgrd1 T C 5: 129,192,202 (GRCm39) S91P probably benign Het
Agk A G 6: 40,353,160 (GRCm39) I175V probably damaging Het
Ascc3 A T 10: 50,566,235 (GRCm39) N727Y probably damaging Het
Atrnl1 A T 19: 57,680,195 (GRCm39) probably benign Het
B4galt3 G A 1: 171,099,362 (GRCm39) G42D probably damaging Het
Brd10 A T 19: 29,694,463 (GRCm39) S976T probably benign Het
Brip1 C T 11: 86,088,775 (GRCm39) C42Y possibly damaging Het
Cd300ld A T 11: 114,878,227 (GRCm39) M95K probably damaging Het
Cdv3 A G 9: 103,237,224 (GRCm39) probably benign Het
Cog3 G T 14: 75,968,044 (GRCm39) Q430K possibly damaging Het
D6Wsu163e G A 6: 126,932,184 (GRCm39) G308S probably damaging Het
Dnah2 A G 11: 69,365,111 (GRCm39) M1951T probably damaging Het
Elavl3 G A 9: 21,948,014 (GRCm39) T51I probably damaging Het
Eri2 A T 7: 119,385,303 (GRCm39) C399* probably null Het
Ezh2 A T 6: 47,528,835 (GRCm39) probably null Het
Fgd6 C A 10: 93,969,216 (GRCm39) T1161K probably damaging Het
Gbf1 A T 19: 46,267,731 (GRCm39) H1193L possibly damaging Het
Gbp2b T A 3: 142,312,751 (GRCm39) F378Y possibly damaging Het
Hectd2 G A 19: 36,592,916 (GRCm39) V694M possibly damaging Het
Hook1 T A 4: 95,910,434 (GRCm39) S683T probably benign Het
Ifi202b G A 1: 173,802,550 (GRCm39) R95C possibly damaging Het
Kdm8 G T 7: 125,051,658 (GRCm39) V84L probably damaging Het
Kifc3 G A 8: 95,834,168 (GRCm39) probably benign Het
Krt26 C T 11: 99,224,471 (GRCm39) R349Q probably benign Het
Lrig1 G T 6: 94,593,410 (GRCm39) Q424K probably damaging Het
Lrriq1 A T 10: 103,014,661 (GRCm39) M1049K probably benign Het
Mcidas A G 13: 113,133,377 (GRCm39) N103D probably benign Het
Mdn1 T C 4: 32,749,948 (GRCm39) L4377S possibly damaging Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Mug2 G A 6: 122,024,394 (GRCm39) V489I probably benign Het
P2rx5 G T 11: 73,058,803 (GRCm39) probably benign Het
Pfas A T 11: 68,884,289 (GRCm39) probably benign Het
Pknox2 A G 9: 36,834,929 (GRCm39) L180P probably damaging Het
Psmd5 C A 2: 34,744,286 (GRCm39) C412F probably benign Het
Rbks T A 5: 31,817,361 (GRCm39) D136V probably damaging Het
Rgl1 A G 1: 152,404,220 (GRCm39) probably benign Het
Scube3 A G 17: 28,386,658 (GRCm39) D721G probably damaging Het
Snrnp200 T A 2: 127,074,825 (GRCm39) V1466D possibly damaging Het
Stambp A T 6: 83,529,013 (GRCm39) L344Q probably damaging Het
Tctn1 A T 5: 122,396,912 (GRCm39) I157N probably damaging Het
Top2b T A 14: 16,409,965 (GRCm38) D877E probably benign Het
Vmn1r78 G A 7: 11,886,634 (GRCm39) G82S probably damaging Het
Vnn1 T C 10: 23,779,449 (GRCm39) F453L possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Other mutations in Camkk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01762:Camkk1 APN 11 72,921,627 (GRCm39) critical splice acceptor site probably null
IGL02054:Camkk1 APN 11 72,916,708 (GRCm39) missense probably damaging 1.00
IGL02547:Camkk1 APN 11 72,929,259 (GRCm39) missense probably benign 0.22
IGL02628:Camkk1 APN 11 72,919,995 (GRCm39) splice site probably benign
PIT4651001:Camkk1 UTSW 11 72,916,647 (GRCm39) missense probably benign
R1449:Camkk1 UTSW 11 72,924,710 (GRCm39) missense probably damaging 0.96
R1573:Camkk1 UTSW 11 72,918,307 (GRCm39) missense probably damaging 0.99
R3912:Camkk1 UTSW 11 72,924,642 (GRCm39) missense probably benign 0.16
R4084:Camkk1 UTSW 11 72,928,691 (GRCm39) missense probably damaging 1.00
R5284:Camkk1 UTSW 11 72,928,381 (GRCm39) missense probably benign 0.00
R6556:Camkk1 UTSW 11 72,924,696 (GRCm39) missense probably benign 0.32
R7329:Camkk1 UTSW 11 72,917,873 (GRCm39) missense probably damaging 0.99
R7330:Camkk1 UTSW 11 72,917,873 (GRCm39) missense probably damaging 0.99
R7723:Camkk1 UTSW 11 72,928,058 (GRCm39) missense probably benign 0.01
R7787:Camkk1 UTSW 11 72,917,412 (GRCm39) missense probably benign 0.14
R8300:Camkk1 UTSW 11 72,918,266 (GRCm39) missense probably benign 0.34
R8932:Camkk1 UTSW 11 72,924,734 (GRCm39) missense probably damaging 1.00
R9432:Camkk1 UTSW 11 72,928,757 (GRCm39) missense probably damaging 1.00
X0066:Camkk1 UTSW 11 72,928,030 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07