Incidental Mutation 'IGL02054:Camkk1'
ID |
185172 |
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)
|
Stock # |
IGL02054
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
72909834-72932899 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72916708 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 102
(R102Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000090613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092937]
[ENSMUST00000145834]
|
AlphaFold |
Q8VBY2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092937
AA Change: R102Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000090613 Gene: ENSMUSG00000020785 AA Change: R102Q
Domain | Start | End | E-Value | Type |
S_TKc
|
128 |
409 |
7.77e-94 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145834
|
SMART Domains |
Protein: ENSMUSP00000123441 Gene: ENSMUSG00000020785
Domain | Start | End | E-Value | Type |
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
G |
T |
11: 110,182,949 (GRCm39) |
P1036Q |
probably damaging |
Het |
Bag4 |
T |
C |
8: 26,261,253 (GRCm39) |
S163G |
probably benign |
Het |
Caprin1 |
A |
C |
2: 103,602,143 (GRCm39) |
|
probably null |
Het |
Cct8 |
A |
T |
16: 87,287,364 (GRCm39) |
|
probably benign |
Het |
Dlgap2 |
A |
G |
8: 14,893,552 (GRCm39) |
M941V |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,861,646 (GRCm39) |
R1327Q |
probably damaging |
Het |
Fhip1b |
A |
G |
7: 105,033,630 (GRCm39) |
S529P |
probably damaging |
Het |
Gbp9 |
T |
C |
5: 105,230,673 (GRCm39) |
D417G |
probably benign |
Het |
Gemin2 |
G |
A |
12: 59,068,523 (GRCm39) |
|
probably null |
Het |
Grk6 |
G |
T |
13: 55,602,210 (GRCm39) |
A346S |
probably benign |
Het |
Gtf2h1 |
A |
G |
7: 46,464,849 (GRCm39) |
|
probably benign |
Het |
Irak3 |
T |
A |
10: 120,012,164 (GRCm39) |
Q200L |
probably benign |
Het |
Irx4 |
A |
G |
13: 73,416,947 (GRCm39) |
T448A |
probably damaging |
Het |
Iws1 |
T |
C |
18: 32,223,595 (GRCm39) |
|
probably null |
Het |
Kcnk18 |
G |
A |
19: 59,224,045 (GRCm39) |
|
probably benign |
Het |
Klk1b11 |
C |
A |
7: 43,648,251 (GRCm39) |
S86Y |
possibly damaging |
Het |
Lgals7 |
T |
C |
7: 28,565,614 (GRCm39) |
F136S |
probably damaging |
Het |
Luc7l |
T |
A |
17: 26,498,314 (GRCm39) |
|
probably benign |
Het |
Mta2 |
T |
A |
19: 8,928,276 (GRCm39) |
V525E |
probably benign |
Het |
Mtnr1b |
G |
T |
9: 15,785,536 (GRCm39) |
A74E |
possibly damaging |
Het |
Myo1c |
A |
G |
11: 75,551,962 (GRCm39) |
T354A |
probably benign |
Het |
Nat1 |
T |
C |
8: 67,944,074 (GRCm39) |
F153S |
probably damaging |
Het |
Oasl2 |
T |
C |
5: 115,035,867 (GRCm39) |
C48R |
probably damaging |
Het |
Or4f60 |
T |
G |
2: 111,902,269 (GRCm39) |
I220L |
probably benign |
Het |
Pkm |
C |
A |
9: 59,585,484 (GRCm39) |
R489S |
probably damaging |
Het |
Pth2r |
T |
A |
1: 65,375,940 (GRCm39) |
I66N |
probably damaging |
Het |
Slc25a18 |
T |
C |
6: 120,769,358 (GRCm39) |
|
probably null |
Het |
Tnip3 |
T |
C |
6: 65,567,595 (GRCm39) |
S2P |
possibly damaging |
Het |
Vmn2r61 |
T |
C |
7: 41,926,158 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Camkk1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01762:Camkk1
|
APN |
11 |
72,921,627 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02019:Camkk1
|
APN |
11 |
72,928,027 (GRCm39) |
missense |
probably damaging |
0.99 |
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 |