Incidental Mutation 'R5343:Camk4'
| ID |
500954 |
| 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 |
042922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R5343 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
33067984-33324281 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33211122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 76
(T76A)
|
| 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: T76A
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000046539
Gene: ENSMUSG00000038128
AA Change: T76A
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310039H08Rik |
C |
A |
17: 47,083,962 (GRCm39) |
A75E |
probably damaging |
Het |
| Adck5 |
G |
A |
15: 76,479,780 (GRCm39) |
R560H |
probably damaging |
Het |
| Ahctf1 |
A |
T |
1: 179,598,199 (GRCm39) |
Y964* |
probably null |
Het |
| Alg8 |
T |
C |
7: 97,036,126 (GRCm39) |
I339T |
possibly damaging |
Het |
| Alox5 |
T |
C |
6: 116,390,468 (GRCm39) |
D503G |
possibly damaging |
Het |
| Cdh3 |
T |
C |
8: 107,279,568 (GRCm39) |
V728A |
probably benign |
Het |
| Chd4 |
T |
A |
6: 125,097,326 (GRCm39) |
N1326K |
probably damaging |
Het |
| Cnn1 |
A |
T |
9: 22,016,706 (GRCm39) |
Y48F |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,189,599 (GRCm39) |
E16D |
probably benign |
Het |
| Ezh2 |
A |
G |
6: 47,553,549 (GRCm39) |
L56S |
probably damaging |
Het |
| F13b |
T |
C |
1: 139,438,282 (GRCm39) |
V299A |
possibly damaging |
Het |
| Hydin |
T |
C |
8: 111,212,051 (GRCm39) |
S1279P |
probably benign |
Het |
| Ift172 |
T |
C |
5: 31,421,156 (GRCm39) |
M981V |
probably benign |
Het |
| Inava |
G |
T |
1: 136,153,180 (GRCm39) |
H237Q |
probably benign |
Het |
| Lpl |
T |
A |
8: 69,348,389 (GRCm39) |
V206E |
probably damaging |
Het |
| Mre11a |
A |
G |
9: 14,723,130 (GRCm39) |
D368G |
probably damaging |
Het |
| Mreg |
G |
A |
1: 72,200,117 (GRCm39) |
P191L |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,486,964 (GRCm39) |
A134S |
probably damaging |
Het |
| Mxd4 |
T |
C |
5: 34,335,074 (GRCm39) |
S114G |
probably benign |
Het |
| Myo1b |
T |
C |
1: 51,817,696 (GRCm39) |
Q522R |
probably benign |
Het |
| Ncapd3 |
GGCTGCTGCTGCTGCTGCTGCTG |
GGCTGCTGCTGCTGCTGCTG |
9: 26,999,349 (GRCm39) |
|
probably benign |
Het |
| Ninl |
T |
C |
2: 150,813,110 (GRCm39) |
E182G |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,257 (GRCm39) |
N1456S |
probably benign |
Het |
| Npr1 |
G |
T |
3: 90,365,515 (GRCm39) |
N648K |
possibly damaging |
Het |
| Oas3 |
A |
G |
5: 120,894,303 (GRCm39) |
S1016P |
possibly damaging |
Het |
| Or10a3 |
C |
T |
7: 108,480,205 (GRCm39) |
V203M |
possibly damaging |
Het |
| Or9i14 |
T |
C |
19: 13,792,324 (GRCm39) |
N210S |
probably damaging |
Het |
| Palld |
A |
G |
8: 62,002,849 (GRCm39) |
|
probably benign |
Het |
| Patj |
T |
G |
4: 98,564,430 (GRCm39) |
I1021S |
probably damaging |
Het |
| Pfpl |
T |
A |
19: 12,406,052 (GRCm39) |
L101Q |
probably damaging |
Het |
| Pilrb2 |
T |
A |
5: 137,869,228 (GRCm39) |
E124V |
possibly damaging |
Het |
| Pomk |
A |
G |
8: 26,473,044 (GRCm39) |
F303S |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,332,611 (GRCm39) |
S65T |
probably damaging |
Het |
| Sema3a |
G |
A |
5: 13,523,373 (GRCm39) |
C114Y |
probably damaging |
Het |
| Sfi1 |
A |
ATCTTCCCAAAGCCAGTGC |
11: 3,103,384 (GRCm39) |
|
probably benign |
Het |
| Spry4 |
A |
T |
18: 38,723,028 (GRCm39) |
V245E |
probably damaging |
Het |
| Srrt |
T |
C |
5: 137,295,427 (GRCm39) |
Y271C |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,755,043 (GRCm39) |
V28A |
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,960,330 (GRCm39) |
V998A |
probably benign |
Het |
| Trim37 |
A |
G |
11: 87,028,429 (GRCm39) |
E46G |
probably damaging |
Het |
| Ubiad1 |
A |
G |
4: 148,520,892 (GRCm39) |
V244A |
possibly 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 |
|
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 |
|
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'- GGCCAGCATCTAGAACTTAGGAA -3'
(R):5'- TTCTCCACAAATCACGTCCC -3'
Sequencing Primer
(F):5'- AGGAATCCTTGTTAGCCATGAGC -3'
(R):5'- GTCCCACTTAAGAACCAGTGACTG -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation