Incidental Mutation 'R4644:Camk1g'
| ID |
351762 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Camk1g
|
| Ensembl Gene |
ENSMUSG00000016179 |
| Gene Name |
calcium/calmodulin-dependent protein kinase I gamma |
| Synonyms |
CLICK-III, CaMKIgamma |
| MMRRC Submission |
041905-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R4644 (G1)
|
| Quality Score |
219 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 193038667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 85
(D85V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000016323
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016323]
[ENSMUST00000169907]
|
| AlphaFold |
Q91VB2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016323
AA Change: D85V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000016323
Gene: ENSMUSG00000016179
AA Change: D85V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000163202
AA Change: D31V
|
| SMART Domains |
Protein: ENSMUSP00000131451
Gene: ENSMUSG00000016179
AA Change: D31V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
2 |
238 |
5.19e-72 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165718
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000169907
AA Change: D85V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128143
Gene: ENSMUSG00000016179
AA Change: D85V
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
| Meta Mutation Damage Score |
0.9157 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein similar to calcium/calmodulin dependent protein kinase, however, its exact function is not known. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired dendritogenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
G |
1: 165,378,930 (GRCm39) |
|
probably null |
Het |
| Ano5 |
C |
A |
7: 51,237,433 (GRCm39) |
Y702* |
probably null |
Het |
| Bsph2 |
A |
T |
7: 13,304,942 (GRCm39) |
V11E |
possibly damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cflar |
T |
A |
1: 58,770,426 (GRCm39) |
I173N |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,864,016 (GRCm39) |
V904A |
probably damaging |
Het |
| Dnajc21 |
T |
C |
15: 10,464,003 (GRCm39) |
D54G |
possibly damaging |
Het |
| Doc2a |
C |
A |
7: 126,450,618 (GRCm39) |
T298K |
probably benign |
Het |
| Dsg1a |
A |
T |
18: 20,473,785 (GRCm39) |
I953L |
probably benign |
Het |
| Fga |
C |
A |
3: 82,937,573 (GRCm39) |
A150E |
possibly damaging |
Het |
| Frem3 |
T |
A |
8: 81,340,356 (GRCm39) |
M883K |
probably benign |
Het |
| Gas2l3 |
CACTCGTCATACT |
CACT |
10: 89,266,820 (GRCm39) |
|
probably benign |
Het |
| Klhdc4 |
G |
C |
8: 122,548,739 (GRCm39) |
|
probably benign |
Het |
| Mgst1 |
T |
C |
6: 138,133,368 (GRCm39) |
Y50H |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nsmaf |
A |
G |
4: 6,419,940 (GRCm39) |
|
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,823,015 (GRCm39) |
K17R |
probably benign |
Het |
| Prss39 |
C |
T |
1: 34,541,207 (GRCm39) |
T237M |
probably damaging |
Het |
| Ptpra |
T |
C |
2: 130,386,078 (GRCm39) |
I595T |
probably damaging |
Het |
| Ptpre |
C |
T |
7: 135,253,661 (GRCm39) |
|
probably benign |
Het |
| Rictor |
C |
A |
15: 6,807,416 (GRCm39) |
C728* |
probably null |
Het |
| Scn11a |
C |
T |
9: 119,644,269 (GRCm39) |
|
probably null |
Het |
| Scn1b |
A |
T |
7: 30,817,212 (GRCm39) |
L170* |
probably null |
Het |
| Semp2l2b |
A |
G |
10: 21,942,660 (GRCm39) |
V440A |
probably benign |
Het |
| Slc35f3 |
A |
G |
8: 127,047,809 (GRCm39) |
R50G |
possibly damaging |
Het |
| Sorcs3 |
G |
A |
19: 48,672,036 (GRCm39) |
V412M |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 121,891,510 (GRCm39) |
V1954I |
probably benign |
Het |
| Srcap |
C |
T |
7: 127,151,770 (GRCm39) |
R2049C |
probably damaging |
Het |
| Ssh2 |
T |
C |
11: 77,340,402 (GRCm39) |
V518A |
possibly damaging |
Het |
| Stab1 |
G |
A |
14: 30,862,444 (GRCm39) |
|
probably benign |
Het |
| Tenm2 |
A |
G |
11: 35,937,963 (GRCm39) |
F1570S |
probably benign |
Het |
| Tpr |
T |
A |
1: 150,299,250 (GRCm39) |
V1076E |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,562,757 (GRCm39) |
Y26986* |
probably null |
Het |
| Unc45a |
C |
T |
7: 79,978,257 (GRCm39) |
A673T |
probably damaging |
Het |
| Utp25 |
A |
G |
1: 192,810,788 (GRCm39) |
Y72H |
probably damaging |
Het |
|
| Other mutations in Camk1g |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00433:Camk1g
|
APN |
1 |
193,029,657 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02637:Camk1g
|
APN |
1 |
193,030,696 (GRCm39) |
missense |
probably benign |
0.38 |
|
G1patch:Camk1g
|
UTSW |
1 |
193,032,628 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
I2288:Camk1g
|
UTSW |
1 |
193,033,414 (GRCm39) |
splice site |
probably benign |
|
|
R0375:Camk1g
|
UTSW |
1 |
193,038,709 (GRCm39) |
splice site |
probably benign |
|
|
R0433:Camk1g
|
UTSW |
1 |
193,036,366 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0967:Camk1g
|
UTSW |
1 |
193,032,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1161:Camk1g
|
UTSW |
1 |
193,030,662 (GRCm39) |
missense |
probably benign |
|
|
R1227:Camk1g
|
UTSW |
1 |
193,029,741 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1469:Camk1g
|
UTSW |
1 |
193,044,399 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1469:Camk1g
|
UTSW |
1 |
193,044,399 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1641:Camk1g
|
UTSW |
1 |
193,038,665 (GRCm39) |
missense |
probably benign |
0.25 |
|
R3109:Camk1g
|
UTSW |
1 |
193,037,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3160:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3161:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3162:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R3162:Camk1g
|
UTSW |
1 |
193,042,115 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4638:Camk1g
|
UTSW |
1 |
193,038,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4642:Camk1g
|
UTSW |
1 |
193,038,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4756:Camk1g
|
UTSW |
1 |
193,044,393 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4781:Camk1g
|
UTSW |
1 |
193,038,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4987:Camk1g
|
UTSW |
1 |
193,030,783 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5224:Camk1g
|
UTSW |
1 |
193,037,342 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5407:Camk1g
|
UTSW |
1 |
193,029,680 (GRCm39) |
splice site |
probably null |
|
|
R5932:Camk1g
|
UTSW |
1 |
193,036,347 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6725:Camk1g
|
UTSW |
1 |
193,032,628 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7071:Camk1g
|
UTSW |
1 |
193,042,117 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7808:Camk1g
|
UTSW |
1 |
193,032,593 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R7908:Camk1g
|
UTSW |
1 |
193,042,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8135:Camk1g
|
UTSW |
1 |
193,036,335 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8355:Camk1g
|
UTSW |
1 |
193,033,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8737:Camk1g
|
UTSW |
1 |
193,030,794 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8811:Camk1g
|
UTSW |
1 |
193,044,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Camk1g
|
UTSW |
1 |
193,030,363 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9680:Camk1g
|
UTSW |
1 |
193,030,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9688:Camk1g
|
UTSW |
1 |
193,031,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Camk1g
|
UTSW |
1 |
193,044,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGTGCTGGCATGAACTAAC -3'
(R):5'- CTCAGCAAGGCTTCTCTGAGAC -3'
Sequencing Primer
(F):5'- ACTCAATAGTCGGCTCAGTG -3'
(R):5'- GAGACACGGTCCTCTTACACATTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation