Incidental Mutation 'R2186:Camk4'
ID |
237793 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk4
|
Ensembl Gene |
ENSMUSG00000038128 |
Gene Name |
calcium/calmodulin-dependent protein kinase IV |
Synonyms |
A430110E23Rik, D18Bwg0362e, Ca2+/calmodulin-dependent protein kinase type IV/Gr, CaMKIV, CaMKIV/Gr |
MMRRC Submission |
040188-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.070)
|
Stock # |
R2186 (G1)
|
Quality Score |
217 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
33067984-33324281 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 33315394 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Alanine
at position 307
(D307A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046539
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042868]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000042868
AA Change: D307A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046539 Gene: ENSMUSG00000038128 AA Change: D307A
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
21 |
N/A |
INTRINSIC |
S_TKc
|
42 |
296 |
8.7e-106 |
SMART |
low complexity region
|
318 |
344 |
N/A |
INTRINSIC |
low complexity region
|
373 |
390 |
N/A |
INTRINSIC |
low complexity region
|
415 |
428 |
N/A |
INTRINSIC |
low complexity region
|
441 |
454 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.2305 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
100% (51/51) |
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 enzyme is a multifunctional serine/threonine protein kinase with limited tissue distribution, that has been implicated in transcriptional regulation in lymphocytes, neurons and male germ cells. [provided by RefSeq, Jul 2008] PHENOTYPE: Homozygotes for different targeted mutations show variable phenotypes, including reduced viability, male and/or female sterility, and mild to severe neurological and spatial memory disorders. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted, knock-out(3) Targeted, other(1) |
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310033P09Rik |
A |
G |
11: 59,099,340 (GRCm39) |
N29S |
probably damaging |
Het |
Ap1b1 |
T |
C |
11: 4,965,737 (GRCm39) |
V92A |
possibly damaging |
Het |
Asgr1 |
G |
A |
11: 69,947,075 (GRCm39) |
R66Q |
probably benign |
Het |
Atp8b4 |
T |
A |
2: 126,200,780 (GRCm39) |
Q796L |
probably damaging |
Het |
Catsperb |
T |
A |
12: 101,447,041 (GRCm39) |
I223K |
probably benign |
Het |
Ccdc80 |
A |
G |
16: 44,938,468 (GRCm39) |
Y725C |
probably damaging |
Het |
Cep164 |
T |
A |
9: 45,679,876 (GRCm39) |
Q1119L |
probably damaging |
Het |
Cep85l |
G |
A |
10: 53,224,714 (GRCm39) |
P292S |
probably damaging |
Het |
Cfap53 |
A |
G |
18: 74,462,576 (GRCm39) |
|
probably null |
Het |
Cilk1 |
C |
T |
9: 78,038,769 (GRCm39) |
T6M |
probably benign |
Het |
Cts8 |
C |
A |
13: 61,399,545 (GRCm39) |
C138F |
probably damaging |
Het |
Dis3l |
C |
A |
9: 64,246,894 (GRCm39) |
E54* |
probably null |
Het |
Dnaja1 |
T |
A |
4: 40,732,853 (GRCm39) |
D367E |
probably benign |
Het |
Duoxa2 |
T |
C |
2: 122,129,655 (GRCm39) |
I45T |
probably damaging |
Het |
EU599041 |
C |
T |
7: 42,875,333 (GRCm39) |
|
noncoding transcript |
Het |
Exoc5 |
T |
C |
14: 49,252,936 (GRCm39) |
M561V |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,514,290 (GRCm39) |
I296V |
probably damaging |
Het |
Fbxl18 |
C |
T |
5: 142,864,516 (GRCm39) |
V686M |
probably damaging |
Het |
Fryl |
A |
G |
5: 73,222,318 (GRCm39) |
S2088P |
probably damaging |
Het |
Fus |
G |
A |
7: 127,584,706 (GRCm39) |
|
probably benign |
Het |
Gpr183 |
T |
A |
14: 122,191,727 (GRCm39) |
I265L |
probably benign |
Het |
Herc1 |
T |
G |
9: 66,347,183 (GRCm39) |
L2013V |
probably benign |
Het |
Iqca1 |
T |
C |
1: 90,009,066 (GRCm39) |
K430R |
probably benign |
Het |
Iqca1l |
C |
T |
5: 24,759,524 (GRCm39) |
G82E |
probably damaging |
Het |
Itpripl2 |
A |
G |
7: 118,090,500 (GRCm39) |
C20R |
probably damaging |
Het |
Kmt2c |
C |
A |
5: 25,492,110 (GRCm39) |
C852F |
probably damaging |
Het |
Lamb1 |
A |
T |
12: 31,368,466 (GRCm39) |
K1199* |
probably null |
Het |
Lrba |
A |
G |
3: 86,211,643 (GRCm39) |
Y421C |
probably damaging |
Het |
Lrig2 |
A |
G |
3: 104,375,914 (GRCm39) |
L96P |
probably benign |
Het |
Mcc |
A |
G |
18: 44,945,145 (GRCm39) |
F29S |
possibly damaging |
Het |
Mlh1 |
T |
C |
9: 111,087,634 (GRCm39) |
|
probably benign |
Het |
Pals1 |
T |
C |
12: 78,866,145 (GRCm39) |
|
probably benign |
Het |
Rbm33 |
A |
G |
5: 28,599,228 (GRCm39) |
T867A |
unknown |
Het |
Sdk1 |
T |
A |
5: 142,032,047 (GRCm39) |
S1041T |
probably benign |
Het |
Serpinb2 |
A |
G |
1: 107,451,694 (GRCm39) |
|
probably null |
Het |
Serpinb9d |
A |
G |
13: 33,387,030 (GRCm39) |
N366S |
possibly damaging |
Het |
Sf3b1 |
A |
G |
1: 55,046,792 (GRCm39) |
S251P |
probably benign |
Het |
Slc45a1 |
T |
C |
4: 150,722,708 (GRCm39) |
Y392C |
probably benign |
Het |
Tlr4 |
T |
A |
4: 66,758,220 (GRCm39) |
C338S |
possibly damaging |
Het |
Trio |
A |
G |
15: 27,824,061 (GRCm39) |
|
probably null |
Het |
Vnn1 |
A |
T |
10: 23,773,299 (GRCm39) |
I109L |
probably benign |
Het |
Wnk1 |
A |
G |
6: 119,925,528 (GRCm39) |
V1312A |
probably benign |
Het |
Zbed6 |
A |
G |
1: 133,585,817 (GRCm39) |
S507P |
probably damaging |
Het |
Zfp28 |
A |
G |
7: 6,397,497 (GRCm39) |
H644R |
probably damaging |
Het |
Zfp286 |
A |
G |
11: 62,671,287 (GRCm39) |
V262A |
probably damaging |
Het |
Zfp292 |
A |
T |
4: 34,807,962 (GRCm39) |
M1694K |
probably benign |
Het |
|
Other mutations in Camk4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
7510:Camk4
|
UTSW |
18 |
33,289,892 (GRCm39) |
missense |
probably null |
0.99 |
R0244:Camk4
|
UTSW |
18 |
33,312,678 (GRCm39) |
critical splice donor site |
probably null |
|
R0408:Camk4
|
UTSW |
18 |
33,262,845 (GRCm39) |
missense |
probably damaging |
1.00 |
R0744:Camk4
|
UTSW |
18 |
33,072,507 (GRCm39) |
missense |
unknown |
|
R0836:Camk4
|
UTSW |
18 |
33,072,507 (GRCm39) |
missense |
unknown |
|
R0903:Camk4
|
UTSW |
18 |
33,315,383 (GRCm39) |
missense |
probably benign |
0.08 |
R1449:Camk4
|
UTSW |
18 |
33,072,528 (GRCm39) |
missense |
probably damaging |
0.99 |
R1456:Camk4
|
UTSW |
18 |
33,262,896 (GRCm39) |
splice site |
probably benign |
|
R1677:Camk4
|
UTSW |
18 |
33,309,275 (GRCm39) |
missense |
probably damaging |
1.00 |
R1733:Camk4
|
UTSW |
18 |
33,211,074 (GRCm39) |
missense |
possibly damaging |
0.54 |
R1909:Camk4
|
UTSW |
18 |
33,291,869 (GRCm39) |
splice site |
probably null |
|
R2291:Camk4
|
UTSW |
18 |
33,240,996 (GRCm39) |
critical splice donor site |
probably null |
|
R3874:Camk4
|
UTSW |
18 |
33,291,907 (GRCm39) |
missense |
possibly damaging |
0.70 |
R3968:Camk4
|
UTSW |
18 |
33,312,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3969:Camk4
|
UTSW |
18 |
33,312,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
R3970:Camk4
|
UTSW |
18 |
33,312,634 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4858:Camk4
|
UTSW |
18 |
33,309,266 (GRCm39) |
missense |
probably damaging |
0.98 |
R5251:Camk4
|
UTSW |
18 |
33,317,932 (GRCm39) |
missense |
probably benign |
0.31 |
R5343:Camk4
|
UTSW |
18 |
33,211,122 (GRCm39) |
missense |
probably damaging |
0.99 |
R5972:Camk4
|
UTSW |
18 |
33,240,979 (GRCm39) |
missense |
probably damaging |
1.00 |
R6155:Camk4
|
UTSW |
18 |
33,072,500 (GRCm39) |
missense |
unknown |
|
R6728:Camk4
|
UTSW |
18 |
33,317,992 (GRCm39) |
missense |
probably benign |
|
R7088:Camk4
|
UTSW |
18 |
33,072,584 (GRCm39) |
missense |
probably benign |
0.02 |
R7135:Camk4
|
UTSW |
18 |
33,240,996 (GRCm39) |
critical splice donor site |
probably null |
|
R7372:Camk4
|
UTSW |
18 |
33,318,178 (GRCm39) |
missense |
probably benign |
0.34 |
R7490:Camk4
|
UTSW |
18 |
33,072,598 (GRCm39) |
critical splice donor site |
probably null |
|
R7525:Camk4
|
UTSW |
18 |
33,318,085 (GRCm39) |
missense |
probably benign |
0.04 |
R7890:Camk4
|
UTSW |
18 |
33,318,058 (GRCm39) |
missense |
probably benign |
0.01 |
R8446:Camk4
|
UTSW |
18 |
33,289,810 (GRCm39) |
missense |
probably damaging |
0.99 |
R9038:Camk4
|
UTSW |
18 |
33,291,953 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GGTCCTACTCCTGAGGGTGT -3'
(R):5'- AGTGTTTCCCTTGTTAAGAGAGA -3'
Sequencing Primer
(F):5'- TGCTAGTGATAACGGAGTAGCC -3'
(R):5'- CACCTAAGTGGCTTTATGTCAGTAC -3'
|
Posted On |
2014-10-02 |