Incidental Mutation 'IGL00827:Camk1d'
| ID |
9360 |
| 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 # |
IGL00827
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
5298268-5719326 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 5315884 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044009]
[ENSMUST00000114987]
|
| AlphaFold |
Q8BW96 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044009
|
| SMART Domains |
Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
| 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: 16 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
G |
13: 59,837,290 (GRCm39) |
V265A |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,549,393 (GRCm39) |
D803E |
possibly damaging |
Het |
| Dnah2 |
T |
C |
11: 69,339,283 (GRCm39) |
K3075E |
probably damaging |
Het |
| Dnmt3l |
T |
C |
10: 77,889,830 (GRCm39) |
L229P |
probably damaging |
Het |
| Dntt |
G |
A |
19: 41,028,262 (GRCm39) |
G186D |
probably benign |
Het |
| Epdr1 |
A |
G |
13: 19,778,679 (GRCm39) |
I139T |
possibly damaging |
Het |
| Fam20a |
A |
T |
11: 109,568,588 (GRCm39) |
|
probably benign |
Het |
| Hcar2 |
T |
C |
5: 124,002,565 (GRCm39) |
K313E |
probably benign |
Het |
| Hdac2 |
T |
A |
10: 36,873,110 (GRCm39) |
C323S |
probably benign |
Het |
| Hsd3b5 |
G |
A |
3: 98,537,414 (GRCm39) |
A34V |
probably benign |
Het |
| Lrrk2 |
A |
T |
15: 91,639,993 (GRCm39) |
I1513F |
probably damaging |
Het |
| Parp3 |
T |
A |
9: 106,351,605 (GRCm39) |
M208L |
probably benign |
Het |
| Ppp4r4 |
A |
G |
12: 103,545,335 (GRCm39) |
T203A |
probably benign |
Het |
| Rims2 |
G |
A |
15: 39,335,755 (GRCm39) |
G788D |
probably damaging |
Het |
| Slc4a4 |
T |
G |
5: 89,327,545 (GRCm39) |
S626A |
probably benign |
Het |
| Steap4 |
A |
G |
5: 8,026,712 (GRCm39) |
Y225C |
probably damaging |
Het |
|
| Other mutations in Camk1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02138:Camk1d
|
APN |
2 |
5,449,895 (GRCm39) |
nonsense |
probably null |
|
|
IGL02826:Camk1d
|
APN |
2 |
5,570,571 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02999:Camk1d
|
APN |
2 |
5,359,516 (GRCm39) |
missense |
probably benign |
0.44 |
|
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 |
2012-12-06 |
Incidental Mutation