Incidental Mutation 'R0903:Camk4'
| ID |
83890 |
| 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 |
039061-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.079)
|
| Stock # |
R0903 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
33067984-33324281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 33315383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 303
(F303L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046539
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042868]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042868
AA Change: F303L
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: F303L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.3%
- 20x: 94.9%
|
| 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 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
A |
G |
4: 135,965,687 (GRCm39) |
N399S |
probably benign |
Het |
| Cntn2 |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
1: 132,461,422 (GRCm39) |
|
probably benign |
Het |
| Hmg20b |
C |
T |
10: 81,184,329 (GRCm39) |
|
probably null |
Het |
| Itih5 |
G |
A |
2: 10,253,999 (GRCm39) |
R750Q |
probably benign |
Het |
| Kif13a |
T |
C |
13: 47,082,735 (GRCm39) |
T35A |
possibly damaging |
Het |
| Klri2 |
A |
G |
6: 129,710,739 (GRCm39) |
S127P |
possibly damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mmp3 |
A |
G |
9: 7,445,994 (GRCm39) |
M33V |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,513,293 (GRCm39) |
H821R |
probably damaging |
Het |
| Mzf1 |
C |
A |
7: 12,786,698 (GRCm39) |
R124L |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,701 (GRCm39) |
I4L |
probably benign |
Het |
| Or8c11 |
C |
G |
9: 38,290,097 (GRCm39) |
L301V |
probably benign |
Het |
| Scrib |
A |
T |
15: 75,938,704 (GRCm39) |
W203R |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,432,242 (GRCm39) |
|
probably null |
Het |
| Ssx2ip |
G |
T |
3: 146,136,732 (GRCm39) |
V327L |
probably benign |
Het |
| Ugt2a3 |
A |
T |
5: 87,475,570 (GRCm39) |
F354Y |
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 |
|
|
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 |
|
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'- ACGGAGTAGCCAGACTTTCACAATG -3'
(R):5'- ACACAAGGATTTTCCTGGTGTCACAG -3'
Sequencing Primer
(F):5'- GGCTGACTACATTTCAAGCC -3'
(R):5'- acacaacacacacacacaac -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation