Incidental Mutation 'R3969:Camk4'
| ID |
310897 |
| 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 |
040937-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R3969 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
33067984-33324281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33312634 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 258
(I258N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042868]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042868
AA Change: I258N
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: I258N
| 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 |
0.0824 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.1%
|
| Validation Efficiency |
100% (48/48) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahi1 |
A |
G |
10: 20,835,846 (GRCm39) |
K60E |
probably damaging |
Het |
| Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
| Armcx6 |
G |
T |
X: 133,650,505 (GRCm39) |
H109N |
possibly damaging |
Het |
| Camk2d |
G |
T |
3: 126,590,608 (GRCm39) |
C273F |
possibly damaging |
Het |
| Chia1 |
T |
G |
3: 106,028,951 (GRCm39) |
|
probably null |
Het |
| Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
| Cpeb4 |
T |
C |
11: 31,822,811 (GRCm39) |
I175T |
possibly damaging |
Het |
| Dnah17 |
G |
A |
11: 117,931,984 (GRCm39) |
|
probably benign |
Het |
| E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
| Faap100 |
A |
T |
11: 120,269,531 (GRCm39) |
M1K |
probably null |
Het |
| Flna |
A |
T |
X: 73,279,273 (GRCm39) |
V1253E |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,269,766 (GRCm39) |
S396R |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,798,172 (GRCm39) |
C774S |
probably benign |
Het |
| Habp2 |
A |
G |
19: 56,300,133 (GRCm39) |
Y194C |
probably damaging |
Het |
| Insyn2b |
A |
T |
11: 34,369,739 (GRCm39) |
Q481L |
probably damaging |
Het |
| Irf5 |
A |
T |
6: 29,536,781 (GRCm39) |
Q497H |
probably benign |
Het |
| Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
| Lins1 |
C |
T |
7: 66,357,946 (GRCm39) |
T27I |
probably benign |
Het |
| Ncstn |
A |
C |
1: 171,897,576 (GRCm39) |
V439G |
probably damaging |
Het |
| Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
| Nol8 |
A |
T |
13: 49,813,492 (GRCm39) |
K162* |
probably null |
Het |
| Or7g21 |
A |
G |
9: 19,032,956 (GRCm39) |
E232G |
probably benign |
Het |
| Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
| Pabpc5 |
A |
G |
X: 118,838,321 (GRCm39) |
E212G |
probably benign |
Het |
| Pecr |
G |
A |
1: 72,315,468 (GRCm39) |
T94I |
probably damaging |
Het |
| Piezo2 |
A |
T |
18: 63,144,767 (GRCm39) |
V2776E |
probably damaging |
Het |
| Pik3r2 |
G |
A |
8: 71,223,065 (GRCm39) |
R452C |
probably benign |
Het |
| Pole3 |
G |
T |
4: 62,443,198 (GRCm39) |
N12K |
possibly damaging |
Het |
| Prl2a1 |
A |
G |
13: 27,990,263 (GRCm39) |
S71G |
probably benign |
Het |
| Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,318,494 (GRCm39) |
|
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,088,738 (GRCm39) |
V496A |
probably benign |
Het |
| Slc26a1 |
A |
G |
5: 108,821,818 (GRCm39) |
S24P |
probably benign |
Het |
| Tspoap1 |
A |
T |
11: 87,653,272 (GRCm39) |
N113Y |
probably damaging |
Het |
| Usp17lc |
A |
T |
7: 103,067,626 (GRCm39) |
H307L |
probably damaging |
Het |
| Vmn2r79 |
T |
C |
7: 86,652,801 (GRCm39) |
W498R |
probably damaging |
Het |
| Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
| Wwc2 |
T |
C |
8: 48,309,358 (GRCm39) |
D808G |
unknown |
Het |
| Ybx2 |
G |
A |
11: 69,831,242 (GRCm39) |
R84Q |
probably damaging |
Het |
| Zfp462 |
C |
T |
4: 55,012,402 (GRCm39) |
S308F |
probably damaging |
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 |
|
|
R2186:Camk4
|
UTSW |
18 |
33,315,394 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
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'- CCAATTGCACACCTGTACAAGTAG -3'
(R):5'- GTTTCTGTTCTGCATAAGGAAGATG -3'
Sequencing Primer
(F):5'- GCACACCTGTACAAGTAGATTTAC -3'
(R):5'- AAGGAAGATGCATTAATTTAATGTGC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation