Incidental Mutation 'IGL02628:Camkk1'
| ID |
301178 |
| 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 # |
IGL02628
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72909834-72932899 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 72919995 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092937]
[ENSMUST00000145834]
|
| AlphaFold |
Q8VBY2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092937
|
| SMART Domains |
Protein: ENSMUSP00000090613
Gene: ENSMUSG00000020785
| 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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr10 |
T |
A |
12: 71,001,430 (GRCm39) |
|
probably null |
Het |
| Ankhd1 |
T |
C |
18: 36,780,756 (GRCm39) |
V1936A |
probably benign |
Het |
| Ap3m1 |
C |
A |
14: 21,095,588 (GRCm39) |
E81* |
probably null |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Cmc1 |
A |
G |
9: 117,894,376 (GRCm39) |
Y33H |
probably damaging |
Het |
| Cntnap5b |
A |
T |
1: 99,999,794 (GRCm39) |
D184V |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,021,644 (GRCm39) |
D1373V |
probably damaging |
Het |
| Fam169a |
T |
C |
13: 97,247,796 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,639,019 (GRCm39) |
R328W |
probably damaging |
Het |
| Gba2 |
T |
C |
4: 43,568,919 (GRCm39) |
R579G |
probably benign |
Het |
| Gm42641 |
G |
A |
9: 108,887,698 (GRCm39) |
Q98* |
probably null |
Het |
| Hsd17b7 |
A |
G |
1: 169,792,058 (GRCm39) |
F117L |
possibly damaging |
Het |
| Itsn1 |
A |
G |
16: 91,696,511 (GRCm39) |
D38G |
possibly damaging |
Het |
| Map1a |
T |
C |
2: 121,130,585 (GRCm39) |
I467T |
probably damaging |
Het |
| Map2k4 |
T |
A |
11: 65,581,567 (GRCm39) |
I382F |
possibly damaging |
Het |
| Myh1 |
T |
G |
11: 67,097,088 (GRCm39) |
|
probably benign |
Het |
| Nr1h4 |
C |
T |
10: 89,309,701 (GRCm39) |
A339T |
probably damaging |
Het |
| Opn4 |
T |
A |
14: 34,315,014 (GRCm39) |
T420S |
probably benign |
Het |
| Or5h22 |
A |
C |
16: 58,895,155 (GRCm39) |
M96R |
probably benign |
Het |
| Or6n1 |
A |
G |
1: 173,916,756 (GRCm39) |
Y50C |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Slc17a3 |
T |
A |
13: 24,026,434 (GRCm39) |
M1K |
probably null |
Het |
| T |
T |
A |
17: 8,654,190 (GRCm39) |
I125N |
probably damaging |
Het |
| Tns2 |
T |
A |
15: 102,020,263 (GRCm39) |
S710T |
probably benign |
Het |
| Trav3-1 |
T |
A |
14: 52,818,551 (GRCm39) |
V75E |
probably benign |
Het |
| U2surp |
A |
G |
9: 95,354,143 (GRCm39) |
Y832H |
possibly damaging |
Het |
| Zng1 |
T |
A |
19: 24,935,269 (GRCm39) |
E78D |
probably damaging |
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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation