Incidental Mutation 'IGL02999:Camk1d'
| ID |
407220 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Camk1d
|
| Ensembl Gene |
ENSMUSG00000039145 |
| Gene Name |
calcium/calmodulin-dependent protein kinase ID |
| Synonyms |
E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02999
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5298268-5719326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5359516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 177
(V177L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037028
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044009]
[ENSMUST00000114987]
|
| AlphaFold |
Q8BW96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044009
AA Change: V177L
PolyPhen 2
Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: V177L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
279 |
5.87e-112 |
SMART |
|
low complexity region
|
326 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
358 |
368 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114987
AA Change: V169L
PolyPhen 2
Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: V169L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
271 |
1.35e-102 |
SMART |
|
low complexity region
|
318 |
335 |
N/A |
INTRINSIC |
|
low complexity region
|
350 |
360 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the calcium/calmodulin-dependent protein kinase 1 family, a subfamily of the serine/threonine kinases. The encoded protein is a component of the calcium-regulated calmodulin-dependent protein kinase cascade. It has been associated with multiple processes including regulation of granulocyte function, activation of CREB-dependent gene transcription, aldosterone synthesis, differentiation and activation of neutrophil cells, and apoptosis of erythroleukemia cells. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
A |
10: 78,903,424 (GRCm39) |
R297S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,531,757 (GRCm39) |
|
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,908,100 (GRCm39) |
V94D |
probably damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,726,973 (GRCm39) |
A460T |
probably benign |
Het |
| Atp8a2 |
C |
A |
14: 60,162,571 (GRCm39) |
E717* |
probably null |
Het |
| Brinp3 |
A |
T |
1: 146,577,587 (GRCm39) |
|
probably null |
Het |
| Chst11 |
A |
G |
10: 83,027,538 (GRCm39) |
I322V |
possibly damaging |
Het |
| Cobl |
T |
C |
11: 12,293,869 (GRCm39) |
T296A |
possibly damaging |
Het |
| Dcc |
A |
C |
18: 71,511,749 (GRCm39) |
F869V |
possibly damaging |
Het |
| Dock2 |
G |
T |
11: 34,583,086 (GRCm39) |
T609K |
probably damaging |
Het |
| Ercc5 |
A |
G |
1: 44,206,814 (GRCm39) |
T576A |
probably benign |
Het |
| Faf1 |
A |
G |
4: 109,719,090 (GRCm39) |
I399V |
probably benign |
Het |
| Fndc3b |
T |
G |
3: 27,592,388 (GRCm39) |
E170A |
probably damaging |
Het |
| Ggt7 |
C |
A |
2: 155,344,633 (GRCm39) |
V237L |
probably benign |
Het |
| Hectd1 |
G |
T |
12: 51,874,205 (GRCm39) |
Q24K |
possibly damaging |
Het |
| Krt19 |
T |
C |
11: 100,032,235 (GRCm39) |
|
probably benign |
Het |
| Lilrb4a |
T |
C |
10: 51,370,239 (GRCm39) |
L259P |
probably damaging |
Het |
| Limd1 |
T |
C |
9: 123,345,864 (GRCm39) |
Y548H |
probably damaging |
Het |
| Lingo2 |
A |
G |
4: 35,708,744 (GRCm39) |
I412T |
probably damaging |
Het |
| Lrrc34 |
T |
A |
3: 30,688,782 (GRCm39) |
Q173L |
probably damaging |
Het |
| Lrrn3 |
A |
T |
12: 41,502,750 (GRCm39) |
N522K |
probably benign |
Het |
| Mgat4e |
A |
C |
1: 134,468,928 (GRCm39) |
L372R |
probably damaging |
Het |
| Nedd4l |
A |
G |
18: 65,331,778 (GRCm39) |
D638G |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,397 (GRCm39) |
M423T |
probably damaging |
Het |
| Or8g54 |
T |
C |
9: 39,706,752 (GRCm39) |
L27P |
probably damaging |
Het |
| Pcsk7 |
T |
A |
9: 45,838,897 (GRCm39) |
I603N |
possibly damaging |
Het |
| Ptpn2 |
A |
G |
18: 67,814,580 (GRCm39) |
V143A |
probably damaging |
Het |
| Rabgap1 |
C |
A |
2: 37,373,838 (GRCm39) |
D283E |
possibly damaging |
Het |
| Reln |
G |
A |
5: 22,200,363 (GRCm39) |
S1379F |
probably damaging |
Het |
| Rpap2 |
T |
A |
5: 107,749,697 (GRCm39) |
F74I |
possibly damaging |
Het |
| Sel1l2 |
T |
C |
2: 140,072,724 (GRCm39) |
E637G |
probably damaging |
Het |
| Slc28a2b |
T |
C |
2: 122,344,995 (GRCm39) |
|
probably benign |
Het |
| St18 |
T |
A |
1: 6,887,829 (GRCm39) |
V466E |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,198 (GRCm39) |
G207C |
probably damaging |
Het |
| Stra6 |
T |
A |
9: 58,042,396 (GRCm39) |
N8K |
probably benign |
Het |
| Sytl4 |
C |
T |
X: 132,838,727 (GRCm39) |
R649Q |
probably benign |
Het |
| Tas1r3 |
A |
G |
4: 155,946,816 (GRCm39) |
V263A |
probably damaging |
Het |
| Tprg1 |
T |
C |
16: 25,136,218 (GRCm39) |
Y70H |
probably damaging |
Het |
|
| Other mutations in Camk1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00827:Camk1d
|
APN |
2 |
5,315,884 (GRCm39) |
splice site |
probably benign |
|
|
IGL02138:Camk1d
|
APN |
2 |
5,449,895 (GRCm39) |
nonsense |
probably null |
|
|
IGL02826:Camk1d
|
APN |
2 |
5,570,571 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R0432:Camk1d
|
UTSW |
2 |
5,449,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1180:Camk1d
|
UTSW |
2 |
5,366,836 (GRCm39) |
nonsense |
probably null |
|
|
R1448:Camk1d
|
UTSW |
2 |
5,366,836 (GRCm39) |
nonsense |
probably null |
|
|
R1628:Camk1d
|
UTSW |
2 |
5,315,848 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1850:Camk1d
|
UTSW |
2 |
5,366,826 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1998:Camk1d
|
UTSW |
2 |
5,366,836 (GRCm39) |
nonsense |
probably null |
|
|
R2000:Camk1d
|
UTSW |
2 |
5,366,836 (GRCm39) |
nonsense |
probably null |
|
|
R2513:Camk1d
|
UTSW |
2 |
5,719,047 (GRCm39) |
start codon destroyed |
probably null |
0.15 |
|
R4065:Camk1d
|
UTSW |
2 |
5,570,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4201:Camk1d
|
UTSW |
2 |
5,359,587 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4581:Camk1d
|
UTSW |
2 |
5,359,515 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4760:Camk1d
|
UTSW |
2 |
5,366,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4894:Camk1d
|
UTSW |
2 |
5,359,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5001:Camk1d
|
UTSW |
2 |
5,317,912 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R5394:Camk1d
|
UTSW |
2 |
5,308,177 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5754:Camk1d
|
UTSW |
2 |
5,449,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Camk1d
|
UTSW |
2 |
5,449,908 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5877:Camk1d
|
UTSW |
2 |
5,570,476 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6444:Camk1d
|
UTSW |
2 |
5,317,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Camk1d
|
UTSW |
2 |
5,344,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9177:Camk1d
|
UTSW |
2 |
5,303,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9268:Camk1d
|
UTSW |
2 |
5,303,901 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9329:Camk1d
|
UTSW |
2 |
5,449,954 (GRCm39) |
missense |
probably benign |
|
|
R9433:Camk1d
|
UTSW |
2 |
5,680,777 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation