Incidental Mutation 'R4638:Camk1g'
| ID |
350779 |
| 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 |
041900-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.101)
|
| Stock # |
R4638 (G1)
|
| Quality Score |
217 |
|
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: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
91% (40/44) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
A |
G |
17: 84,999,369 (GRCm39) |
D155G |
probably damaging |
Het |
| Ano4 |
C |
T |
10: 88,790,559 (GRCm39) |
A847T |
probably damaging |
Het |
| B4galt7 |
T |
C |
13: 55,747,959 (GRCm39) |
|
probably benign |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cebpa |
A |
G |
7: 34,819,687 (GRCm39) |
N282D |
probably damaging |
Het |
| Cngb1 |
G |
A |
8: 95,992,647 (GRCm39) |
T196M |
probably damaging |
Het |
| Cobll1 |
T |
C |
2: 64,929,581 (GRCm39) |
M619V |
probably benign |
Het |
| Coro7 |
A |
T |
16: 4,450,151 (GRCm39) |
I566N |
probably damaging |
Het |
| Dpyd |
A |
T |
3: 119,059,726 (GRCm39) |
S808C |
probably benign |
Het |
| Fbn2 |
A |
G |
18: 58,143,376 (GRCm39) |
V2893A |
probably benign |
Het |
| Gm10801 |
G |
C |
2: 98,494,352 (GRCm39) |
R143T |
possibly damaging |
Het |
| Krba1 |
T |
A |
6: 48,386,685 (GRCm39) |
L441* |
probably null |
Het |
| Lama5 |
T |
C |
2: 179,832,206 (GRCm39) |
T1712A |
possibly damaging |
Het |
| Lnpep |
G |
A |
17: 17,795,569 (GRCm39) |
T314I |
probably damaging |
Het |
| Lyst |
T |
C |
13: 13,871,379 (GRCm39) |
|
probably null |
Het |
| Naa16 |
C |
A |
14: 79,577,473 (GRCm39) |
|
probably null |
Het |
| Nek7 |
A |
T |
1: 138,472,038 (GRCm39) |
F34Y |
probably benign |
Het |
| Or12e7 |
T |
C |
2: 87,288,327 (GRCm39) |
S273P |
possibly damaging |
Het |
| Or2ag17 |
A |
T |
7: 106,390,205 (GRCm39) |
M1K |
probably null |
Het |
| Park7 |
G |
A |
4: 150,991,556 (GRCm39) |
Q45* |
probably null |
Het |
| Pclo |
C |
A |
5: 14,730,447 (GRCm39) |
S2983* |
probably null |
Het |
| Pth1r |
A |
G |
9: 110,556,141 (GRCm39) |
L244P |
possibly damaging |
Het |
| Pyroxd1 |
C |
G |
6: 142,300,467 (GRCm39) |
S199* |
probably null |
Het |
| Slc11a1 |
G |
A |
1: 74,414,437 (GRCm39) |
|
probably benign |
Het |
| Slc12a8 |
T |
G |
16: 33,410,693 (GRCm39) |
S200A |
possibly damaging |
Het |
| Slc7a10 |
A |
G |
7: 34,897,355 (GRCm39) |
E262G |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 117,795,149 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
G |
2: 26,255,314 (GRCm39) |
L1070P |
probably damaging |
Het |
| Sp2 |
A |
G |
11: 96,848,300 (GRCm39) |
I435T |
possibly damaging |
Het |
| Srp72 |
A |
G |
5: 77,138,142 (GRCm39) |
E309G |
probably benign |
Het |
| Sympk |
G |
T |
7: 18,777,385 (GRCm39) |
R545L |
possibly damaging |
Het |
| Tie1 |
C |
T |
4: 118,341,039 (GRCm39) |
R314H |
probably benign |
Het |
| Tmem198 |
G |
T |
1: 75,456,351 (GRCm39) |
G2* |
probably null |
Het |
| Tmem81 |
A |
G |
1: 132,435,943 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,652,821 (GRCm39) |
V10938E |
possibly damaging |
Het |
| Zfp773 |
T |
A |
7: 7,138,335 (GRCm39) |
Y100F |
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 |
|
R4642:Camk1g
|
UTSW |
1 |
193,038,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4644: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'- CTGTGCTGGCATGAACTAACTC -3'
(R):5'- CTCAGCAAGGCTTCTCTGAGAC -3'
Sequencing Primer
(F):5'- ACTCAATAGTCGGCTCAGTG -3'
(R):5'- GAGACACGGTCCTCTTACACATTG -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation