Incidental Mutation 'R4065:Camk1d'
| ID |
316039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk1d
|
| Ensembl Gene |
ENSMUSG00000039145 |
| Gene Name |
calcium/calmodulin-dependent protein kinase ID |
| Synonyms |
E030025C11Rik, CKLiK, A630059D12Rik, CaMKIdelta |
| MMRRC Submission |
040972-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4065 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
5298268-5719326 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 5570584 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 26
(F26I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110638
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044009]
[ENSMUST00000114987]
|
| AlphaFold |
Q8BW96 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044009
AA Change: F34I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037028
Gene: ENSMUSG00000039145
AA Change: F34I
| 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 damaging
Transcript: ENSMUST00000114987
AA Change: F26I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110638
Gene: ENSMUSG00000039145
AA Change: F26I
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933434E20Rik |
C |
T |
3: 89,966,073 (GRCm39) |
R178* |
probably null |
Het |
| Abcc9 |
T |
C |
6: 142,591,616 (GRCm39) |
E769G |
probably damaging |
Het |
| Adcy9 |
C |
A |
16: 4,106,298 (GRCm39) |
V939F |
probably damaging |
Het |
| Atg2a |
T |
C |
19: 6,308,396 (GRCm39) |
F1643S |
probably damaging |
Het |
| B430305J03Rik |
A |
G |
3: 61,271,646 (GRCm39) |
|
probably benign |
Het |
| C2cd5 |
A |
G |
6: 143,019,397 (GRCm39) |
I306T |
probably benign |
Het |
| Cant1 |
G |
T |
11: 118,298,823 (GRCm39) |
D313E |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,101,276 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
G |
14: 26,492,405 (GRCm39) |
I1182V |
probably benign |
Het |
| Dnajc21 |
A |
G |
15: 10,451,639 (GRCm39) |
|
probably null |
Het |
| Dnajc7 |
T |
C |
11: 100,492,607 (GRCm39) |
Y38C |
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Dync2i2 |
A |
G |
2: 29,922,820 (GRCm39) |
L309P |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,063,346 (GRCm39) |
H4434L |
probably benign |
Het |
| Fbxo16 |
T |
A |
14: 65,508,278 (GRCm39) |
N31K |
probably damaging |
Het |
| Foxj3 |
T |
C |
4: 119,467,206 (GRCm39) |
I183T |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,394 (GRCm39) |
Y428C |
probably damaging |
Het |
| Gm11437 |
A |
G |
11: 84,055,337 (GRCm39) |
V93A |
probably benign |
Het |
| Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
| Grem1 |
A |
G |
2: 113,580,033 (GRCm39) |
L156P |
probably damaging |
Het |
| Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
| Lamc3 |
C |
A |
2: 31,835,270 (GRCm39) |
H1530Q |
probably benign |
Het |
| Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
| Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,777,483 (GRCm39) |
V1846A |
probably damaging |
Het |
| Mthfd1l |
A |
G |
10: 3,982,242 (GRCm39) |
H483R |
probably damaging |
Het |
| Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
| Mvp |
A |
G |
7: 126,595,489 (GRCm39) |
V207A |
probably damaging |
Het |
| Nsun2 |
T |
C |
13: 69,760,579 (GRCm39) |
|
probably null |
Het |
| Or13a26 |
T |
C |
7: 140,284,182 (GRCm39) |
L6P |
probably benign |
Het |
| Or8g55 |
T |
C |
9: 39,784,718 (GRCm39) |
I49T |
possibly damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,603,134 (GRCm39) |
|
probably null |
Het |
| Plxna4 |
T |
A |
6: 32,213,300 (GRCm39) |
K637* |
probably null |
Het |
| Ppm1d |
A |
G |
11: 85,236,678 (GRCm39) |
T486A |
probably benign |
Het |
| Prb1a |
T |
A |
6: 132,184,658 (GRCm39) |
Q325L |
unknown |
Het |
| Sf3a1 |
T |
A |
11: 4,117,824 (GRCm39) |
F195L |
probably damaging |
Het |
| Spcs2 |
A |
G |
7: 99,494,012 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ssbp4 |
T |
C |
8: 71,052,210 (GRCm39) |
T77A |
possibly damaging |
Het |
| Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
| Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
| Uhrf1 |
T |
A |
17: 56,625,020 (GRCm39) |
I521N |
probably damaging |
Het |
| Uros |
A |
G |
7: 133,304,057 (GRCm39) |
|
probably null |
Het |
| Usp47 |
A |
G |
7: 111,652,623 (GRCm39) |
D100G |
probably benign |
Het |
| Utp6 |
T |
C |
11: 79,837,073 (GRCm39) |
R337G |
probably damaging |
Het |
| Vcan |
T |
C |
13: 89,828,006 (GRCm39) |
T3147A |
probably damaging |
Het |
| Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
| Zfp654 |
G |
A |
16: 64,606,288 (GRCm39) |
T638M |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGCACACTGGTAGCCAAC -3'
(R):5'- TGGAGCACACTTGTCCATATGC -3'
Sequencing Primer
(F):5'- TTCTATGACCCCCTGGAAAGG -3'
(R):5'- GCTTTCCTCTTCTAAGAACAATTGGG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation