Incidental Mutation 'R3968:Camk4'
ID |
312464 |
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 |
040936-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R3968 (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: 99.1%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.1%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef12 |
C |
A |
9: 42,916,847 (GRCm39) |
R432L |
probably damaging |
Het |
Cdhr2 |
A |
T |
13: 54,874,271 (GRCm39) |
N781I |
probably damaging |
Het |
Cela1 |
C |
T |
15: 100,582,534 (GRCm39) |
G93S |
probably damaging |
Het |
Commd9 |
C |
A |
2: 101,727,486 (GRCm39) |
N93K |
probably benign |
Het |
Cysltr2 |
A |
G |
14: 73,267,614 (GRCm39) |
I32T |
probably damaging |
Het |
E2f1 |
C |
G |
2: 154,405,942 (GRCm39) |
G144R |
probably damaging |
Het |
Fcho2 |
A |
T |
13: 98,871,564 (GRCm39) |
S551T |
probably benign |
Het |
Fzd8 |
T |
C |
18: 9,214,070 (GRCm39) |
V384A |
probably damaging |
Het |
Gm14401 |
T |
C |
2: 176,778,789 (GRCm39) |
Y292H |
possibly damaging |
Het |
H2-M2 |
C |
T |
17: 37,792,197 (GRCm39) |
G318S |
possibly damaging |
Het |
Il21r |
G |
T |
7: 125,227,215 (GRCm39) |
|
probably null |
Het |
Itgam |
T |
C |
7: 127,712,205 (GRCm39) |
Y697H |
probably damaging |
Het |
Itpkb |
A |
T |
1: 180,155,363 (GRCm39) |
|
probably benign |
Het |
Lama3 |
A |
T |
18: 12,713,398 (GRCm39) |
K3230M |
probably damaging |
Het |
Ly75 |
T |
C |
2: 60,158,217 (GRCm39) |
I1023V |
possibly damaging |
Het |
Narf |
A |
T |
11: 121,129,247 (GRCm39) |
E10D |
possibly damaging |
Het |
Net1 |
A |
G |
13: 3,957,795 (GRCm39) |
|
probably null |
Het |
Nlrx1 |
A |
T |
9: 44,166,722 (GRCm39) |
|
probably benign |
Het |
Oard1 |
T |
C |
17: 48,722,282 (GRCm39) |
Y93H |
probably damaging |
Het |
Or4n5 |
A |
T |
14: 50,132,983 (GRCm39) |
I92N |
probably damaging |
Het |
Or8b54 |
A |
G |
9: 38,686,664 (GRCm39) |
T38A |
probably benign |
Het |
Pcm1 |
T |
C |
8: 41,778,867 (GRCm39) |
L1825P |
probably damaging |
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 |
Ppfia2 |
T |
A |
10: 106,742,382 (GRCm39) |
D1058E |
probably damaging |
Het |
Ppl |
T |
C |
16: 4,918,196 (GRCm39) |
|
probably null |
Het |
Rab39 |
G |
A |
9: 53,597,932 (GRCm39) |
A111V |
possibly damaging |
Het |
Sema3g |
T |
C |
14: 30,948,478 (GRCm39) |
|
probably null |
Het |
Slc19a1 |
T |
C |
10: 76,877,680 (GRCm39) |
Y72H |
probably damaging |
Het |
Sntb2 |
T |
A |
8: 107,723,772 (GRCm39) |
Y340* |
probably null |
Het |
Srrm4 |
A |
G |
5: 116,582,803 (GRCm39) |
|
probably benign |
Het |
Ssb |
C |
T |
2: 69,697,793 (GRCm39) |
|
probably benign |
Het |
Sval2 |
T |
A |
6: 41,838,861 (GRCm39) |
V14E |
probably damaging |
Het |
Tmc2 |
T |
G |
2: 130,043,991 (GRCm39) |
V75G |
probably benign |
Het |
Tnnc2 |
T |
C |
2: 164,619,457 (GRCm39) |
E129G |
possibly damaging |
Het |
Vmn2r94 |
C |
A |
17: 18,478,647 (GRCm39) |
Q33H |
possibly damaging |
Het |
Yap1 |
C |
T |
9: 7,973,877 (GRCm39) |
R188Q |
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 |
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'- CCAATTGCACACCTGTACAAGTAG -3'
(R):5'- GTTTCTGTTCTGCATAAGGAAGATG -3'
Sequencing Primer
(F):5'- GCACACCTGTACAAGTAGATTTAC -3'
(R):5'- AAGGAAGATGCATTAATTTAATGTGC -3'
|
Posted On |
2015-04-29 |