Incidental Mutation 'IGL01762:Camkk1'
| ID |
153290 |
| 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 # |
IGL01762
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
72909834-72932899 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to G
at 72921627 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123441
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092937]
[ENSMUST00000092937]
[ENSMUST00000145834]
|
| AlphaFold |
Q8VBY2 |
| Predicted Effect |
probably null
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 null
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 null
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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,847 (GRCm39) |
L47* |
probably null |
Het |
| Abca13 |
A |
T |
11: 9,265,423 (GRCm39) |
T3033S |
probably benign |
Het |
| Atp1a2 |
C |
A |
1: 172,112,480 (GRCm39) |
V503L |
possibly damaging |
Het |
| Cacna1e |
T |
A |
1: 154,347,119 (GRCm39) |
D770V |
possibly damaging |
Het |
| Cd34 |
T |
A |
1: 194,621,341 (GRCm39) |
M23K |
probably benign |
Het |
| Cndp1 |
T |
A |
18: 84,640,411 (GRCm39) |
I265F |
probably damaging |
Het |
| Cux2 |
A |
G |
5: 122,011,208 (GRCm39) |
I574T |
probably damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Galk1 |
A |
G |
11: 115,900,834 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gbp11 |
T |
C |
5: 105,475,473 (GRCm39) |
I292V |
probably benign |
Het |
| Gprc5c |
A |
G |
11: 114,754,850 (GRCm39) |
I176V |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Myh6 |
T |
C |
14: 55,199,538 (GRCm39) |
K258E |
probably benign |
Het |
| Niban1 |
T |
C |
1: 151,512,242 (GRCm39) |
V48A |
probably damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,084,850 (GRCm39) |
D243V |
probably damaging |
Het |
| Nobox |
T |
G |
6: 43,280,927 (GRCm39) |
K516Q |
probably damaging |
Het |
| Nudcd3 |
A |
G |
11: 6,100,560 (GRCm39) |
S195P |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,161,750 (GRCm39) |
I477T |
possibly damaging |
Het |
| Pgbd5 |
C |
T |
8: 125,097,349 (GRCm39) |
A394T |
probably damaging |
Het |
| Piezo1 |
G |
A |
8: 123,214,668 (GRCm39) |
R1553* |
probably null |
Het |
| Prkd1 |
T |
C |
12: 50,434,013 (GRCm39) |
I577V |
probably benign |
Het |
| Prss34 |
T |
C |
17: 25,518,786 (GRCm39) |
I256T |
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,037,386 (GRCm38) |
T189A |
probably benign |
Het |
| Ptprr |
C |
T |
10: 116,072,638 (GRCm39) |
T200I |
probably damaging |
Het |
| Samd8 |
C |
T |
14: 21,830,168 (GRCm39) |
P198L |
probably damaging |
Het |
| Sema3c |
T |
C |
5: 17,899,849 (GRCm39) |
L447P |
possibly damaging |
Het |
| Slc22a23 |
A |
T |
13: 34,387,984 (GRCm39) |
F371I |
possibly damaging |
Het |
| Slc2a2 |
A |
G |
3: 28,771,621 (GRCm39) |
R184G |
probably damaging |
Het |
| Slitrk6 |
T |
A |
14: 110,989,056 (GRCm39) |
D217V |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,744,301 (GRCm39) |
V594A |
probably benign |
Het |
| Vmn2r109 |
A |
G |
17: 20,774,654 (GRCm39) |
F234L |
probably benign |
Het |
| Vmn2r12 |
A |
C |
5: 109,234,430 (GRCm39) |
L594R |
probably damaging |
Het |
| Vmn2r124 |
A |
G |
17: 18,283,434 (GRCm39) |
Q376R |
possibly damaging |
Het |
| Vmn2r7 |
T |
C |
3: 64,598,856 (GRCm39) |
D567G |
probably benign |
Het |
|
| Other mutations in Camkk1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation