Incidental Mutation 'IGL02826:Camk1d'
ID |
361204 |
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 # |
IGL02826
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
5298268-5719326 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 5570571 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 30
(V30A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110638
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044009]
[ENSMUST00000114987]
|
AlphaFold |
Q8BW96 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044009
AA Change: V38A
PolyPhen 2
Score 0.479 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000037028 Gene: ENSMUSG00000039145 AA Change: V38A
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 |
possibly damaging
Transcript: ENSMUST00000114987
AA Change: V30A
PolyPhen 2
Score 0.556 (Sensitivity: 0.88; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000110638 Gene: ENSMUSG00000039145 AA Change: V30A
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130470
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155927
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A3galt2 |
T |
C |
4: 128,655,302 (GRCm39) |
|
probably benign |
Het |
Alk |
C |
T |
17: 72,176,531 (GRCm39) |
G1591D |
probably damaging |
Het |
Angptl2 |
T |
C |
2: 33,118,327 (GRCm39) |
S34P |
probably benign |
Het |
Atp2a2 |
A |
G |
5: 122,627,354 (GRCm39) |
V137A |
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,366,770 (GRCm39) |
M845V |
probably damaging |
Het |
Ceacam19 |
G |
A |
7: 19,616,535 (GRCm39) |
T193I |
probably benign |
Het |
Cfap298 |
A |
C |
16: 90,722,950 (GRCm39) |
D261E |
probably benign |
Het |
Chst15 |
T |
A |
7: 131,868,475 (GRCm39) |
D315V |
probably damaging |
Het |
Cux1 |
G |
T |
5: 136,336,857 (GRCm39) |
P885Q |
probably damaging |
Het |
Cyth1 |
C |
T |
11: 118,076,307 (GRCm39) |
E88K |
possibly damaging |
Het |
Dido1 |
A |
G |
2: 180,325,751 (GRCm39) |
V479A |
probably benign |
Het |
Dlc1 |
G |
T |
8: 37,037,429 (GRCm39) |
|
probably benign |
Het |
H2-Ab1 |
G |
A |
17: 34,483,885 (GRCm39) |
R82Q |
probably damaging |
Het |
Hps6 |
T |
A |
19: 45,994,480 (GRCm39) |
*806K |
probably null |
Het |
Ilf3 |
T |
C |
9: 21,309,340 (GRCm39) |
S486P |
probably benign |
Het |
Kdm1b |
C |
A |
13: 47,233,943 (GRCm39) |
T759K |
probably damaging |
Het |
Kirrel1 |
C |
A |
3: 86,995,792 (GRCm39) |
V381F |
probably damaging |
Het |
Kmt2b |
A |
T |
7: 30,276,569 (GRCm39) |
V1701E |
probably damaging |
Het |
Lrmda |
T |
C |
14: 22,878,805 (GRCm39) |
Y100H |
probably damaging |
Het |
Mastl |
T |
C |
2: 23,035,421 (GRCm39) |
I169V |
probably damaging |
Het |
Mroh2b |
A |
G |
15: 4,991,630 (GRCm39) |
E1576G |
probably damaging |
Het |
Nek3 |
A |
T |
8: 22,650,384 (GRCm39) |
|
probably null |
Het |
Nipal3 |
G |
T |
4: 135,195,861 (GRCm39) |
Y247* |
probably null |
Het |
Nt5e |
A |
C |
9: 88,237,758 (GRCm39) |
K229N |
probably damaging |
Het |
Opa1 |
A |
G |
16: 29,429,705 (GRCm39) |
M290V |
probably null |
Het |
Or2a14 |
A |
G |
6: 43,130,511 (GRCm39) |
I91V |
possibly damaging |
Het |
Or8d6 |
G |
T |
9: 39,854,254 (GRCm39) |
G233C |
probably damaging |
Het |
Parp2 |
T |
A |
14: 51,052,872 (GRCm39) |
I155K |
probably benign |
Het |
Pde4dip |
G |
T |
3: 97,674,403 (GRCm39) |
A171E |
probably damaging |
Het |
Prom2 |
C |
T |
2: 127,373,036 (GRCm39) |
E678K |
probably benign |
Het |
Rab12 |
A |
G |
17: 66,805,111 (GRCm39) |
|
probably benign |
Het |
Rgs8 |
A |
T |
1: 153,546,545 (GRCm39) |
T13S |
probably damaging |
Het |
Setd3 |
A |
G |
12: 108,078,383 (GRCm39) |
|
probably benign |
Het |
Shisal1 |
A |
G |
15: 84,304,330 (GRCm39) |
|
probably benign |
Het |
Slx4ip |
G |
A |
2: 136,846,893 (GRCm39) |
V53I |
probably damaging |
Het |
Stil |
A |
G |
4: 114,881,295 (GRCm39) |
D613G |
probably benign |
Het |
Tektip1 |
A |
G |
10: 81,200,570 (GRCm39) |
|
probably benign |
Het |
Tjp3 |
T |
A |
10: 81,109,523 (GRCm39) |
S858C |
probably damaging |
Het |
Tmem215 |
A |
G |
4: 40,474,632 (GRCm39) |
*236W |
probably null |
Het |
Ttbk1 |
A |
G |
17: 46,781,586 (GRCm39) |
V389A |
probably benign |
Het |
Wdfy4 |
A |
G |
14: 32,693,707 (GRCm39) |
F2706S |
possibly damaging |
Het |
Xpo4 |
C |
A |
14: 57,866,877 (GRCm39) |
V222L |
possibly damaging |
Het |
Zfc3h1 |
A |
G |
10: 115,236,809 (GRCm39) |
S428G |
probably benign |
Het |
Zfp286 |
T |
C |
11: 62,678,786 (GRCm39) |
Q47R |
probably damaging |
Het |
Zfp318 |
A |
G |
17: 46,709,680 (GRCm39) |
K468E |
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 |
|
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 |
2015-12-18 |