Incidental Mutation 'G1patch:Camk1g'
ID |
660664 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Camk1g
|
Ensembl Gene |
ENSMUSG00000016179 |
Gene Name |
calcium/calmodulin-dependent protein kinase I gamma |
Synonyms |
CLICK-III, CaMKIgamma |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
G1patch (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 193032628 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 261
(D261G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000016323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016323]
[ENSMUST00000169907]
|
AlphaFold |
Q91VB2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000016323
AA Change: D261G
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000016323 Gene: ENSMUSG00000016179 AA Change: D261G
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: D221G
|
SMART Domains |
Protein: ENSMUSP00000131451 Gene: ENSMUSG00000016179 AA Change: D221G
Domain | Start | End | E-Value | Type |
S_TKc
|
2 |
238 |
5.19e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165718
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169907
AA Change: D261G
PolyPhen 2
Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000128143 Gene: ENSMUSG00000016179 AA Change: D261G
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
Meta Mutation Damage Score |
0.7332 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (55/55) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts18 |
T |
C |
8: 114,469,833 (GRCm39) |
Y623C |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,585,676 (GRCm39) |
E4596G |
probably damaging |
Het |
Adgrv1 |
A |
T |
13: 81,641,329 (GRCm39) |
C3267S |
probably damaging |
Het |
Ankrd40 |
T |
G |
11: 94,225,641 (GRCm39) |
V224G |
probably benign |
Het |
Ap3s2 |
C |
T |
7: 79,570,390 (GRCm39) |
|
probably benign |
Het |
Apip |
T |
A |
2: 102,922,870 (GRCm39) |
D229E |
possibly damaging |
Het |
Atp2b4 |
C |
T |
1: 133,634,725 (GRCm39) |
R1168H |
probably benign |
Het |
Bcan |
T |
C |
3: 87,902,791 (GRCm39) |
K329R |
possibly damaging |
Het |
Ccdc30 |
T |
A |
4: 119,188,796 (GRCm39) |
Q490L |
probably damaging |
Het |
Ccdc83 |
A |
G |
7: 89,896,261 (GRCm39) |
W103R |
probably damaging |
Het |
Ctsl |
T |
A |
13: 64,514,437 (GRCm39) |
R69* |
probably null |
Het |
Dchs1 |
C |
T |
7: 105,408,000 (GRCm39) |
R1944H |
probably damaging |
Het |
Fgb |
T |
C |
3: 82,951,098 (GRCm39) |
Y305C |
probably damaging |
Het |
Fras1 |
T |
A |
5: 96,929,199 (GRCm39) |
Y3868N |
possibly damaging |
Het |
Gal3st2 |
T |
A |
1: 93,801,424 (GRCm39) |
S27T |
probably benign |
Het |
Galnt13 |
A |
G |
2: 54,745,244 (GRCm39) |
D228G |
probably damaging |
Het |
Gk5 |
A |
T |
9: 96,037,523 (GRCm39) |
T346S |
probably benign |
Het |
Gnrhr |
T |
C |
5: 86,333,172 (GRCm39) |
I233V |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,738,568 (GRCm39) |
Y1465C |
probably damaging |
Het |
H6pd |
A |
G |
4: 150,080,815 (GRCm39) |
L10P |
probably damaging |
Het |
Hspg2 |
G |
A |
4: 137,242,618 (GRCm39) |
G611E |
probably damaging |
Het |
Ighv7-4 |
A |
T |
12: 114,186,489 (GRCm39) |
D94E |
probably damaging |
Het |
Lamb3 |
T |
C |
1: 192,986,890 (GRCm39) |
Y59H |
probably benign |
Het |
Msantd1 |
C |
T |
5: 35,078,765 (GRCm39) |
T100I |
probably damaging |
Het |
Msx3 |
T |
A |
7: 139,628,659 (GRCm39) |
|
probably benign |
Het |
Mttp |
C |
A |
3: 137,812,999 (GRCm39) |
A559S |
probably damaging |
Het |
Myh1 |
C |
G |
11: 67,092,719 (GRCm39) |
D4E |
probably damaging |
Het |
Or2ah1 |
A |
G |
2: 85,654,134 (GRCm39) |
K273R |
probably damaging |
Het |
Or4c116 |
G |
T |
2: 88,942,640 (GRCm39) |
T72N |
possibly damaging |
Het |
Or4k45 |
C |
T |
2: 111,395,252 (GRCm39) |
C179Y |
probably damaging |
Het |
Or52e19 |
A |
T |
7: 102,959,561 (GRCm39) |
D211V |
probably damaging |
Het |
Pcdhac1 |
T |
C |
18: 37,223,381 (GRCm39) |
Y65H |
probably damaging |
Het |
Pcdhga8 |
A |
T |
18: 37,860,315 (GRCm39) |
Y457F |
probably damaging |
Het |
Pi4ka |
A |
G |
16: 17,194,846 (GRCm39) |
L184P |
possibly damaging |
Het |
Pja2 |
A |
T |
17: 64,596,962 (GRCm39) |
M514K |
probably damaging |
Het |
Plcxd2 |
T |
C |
16: 45,792,488 (GRCm39) |
N284D |
probably damaging |
Het |
Polr3d |
A |
T |
14: 70,678,577 (GRCm39) |
M129K |
probably benign |
Het |
Ppp1r42 |
T |
G |
1: 10,069,732 (GRCm39) |
E110A |
probably damaging |
Het |
Prdm2 |
G |
A |
4: 142,859,471 (GRCm39) |
T1273M |
possibly damaging |
Het |
Prelid2 |
A |
G |
18: 42,045,514 (GRCm39) |
I132T |
possibly damaging |
Het |
Sergef |
G |
A |
7: 46,282,091 (GRCm39) |
|
probably null |
Het |
Slc24a2 |
C |
A |
4: 87,145,119 (GRCm39) |
|
probably null |
Het |
Stxbp3 |
A |
T |
3: 108,734,916 (GRCm39) |
D24E |
possibly damaging |
Het |
Tas2r123 |
A |
T |
6: 132,824,801 (GRCm39) |
M233L |
probably damaging |
Het |
Thsd7a |
G |
A |
6: 12,555,630 (GRCm39) |
H85Y |
possibly damaging |
Het |
Tlr2 |
T |
A |
3: 83,745,603 (GRCm39) |
E160V |
probably benign |
Het |
Tmem171 |
A |
T |
13: 98,828,678 (GRCm39) |
C157* |
probably null |
Het |
Trpm3 |
T |
C |
19: 22,903,392 (GRCm39) |
Y1051H |
probably damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,491,408 (GRCm39) |
F280L |
probably benign |
Het |
Xpo7 |
A |
T |
14: 70,914,253 (GRCm39) |
Y748N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,436,782 (GRCm39) |
S2024G |
unknown |
Het |
Zfhx2 |
A |
T |
14: 55,301,539 (GRCm39) |
Y2148* |
probably null |
Het |
Zscan4-ps1 |
T |
C |
7: 10,799,906 (GRCm39) |
T328A |
probably benign |
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 |
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 |
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'- TTAGAAGTGGTTAGAGCACGTAGC -3'
(R):5'- AGAGCTCTCTTCTTGGTGGC -3'
Sequencing Primer
(F):5'- CACGTAGCTGGCCCCTG -3'
(R):5'- AGAGCTCTCTTCTTGGTGGCTTATG -3'
|
Posted On |
2021-02-01 |