Incidental Mutation 'R3161:Camk1g'
ID |
258145 |
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 |
040612-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.101)
|
Stock # |
R3161 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
193028654-193052606 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 193042115 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 45
(T45A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128143
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016323]
[ENSMUST00000169907]
|
AlphaFold |
Q91VB2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000016323
AA Change: T45A
PolyPhen 2
Score 0.434 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000016323 Gene: ENSMUSG00000016179 AA Change: T45A
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
low complexity region
|
376 |
389 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000163202
|
SMART Domains |
Protein: ENSMUSP00000131451 Gene: ENSMUSG00000016179
Domain | Start | End | E-Value | Type |
S_TKc
|
2 |
238 |
5.19e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165718
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169907
AA Change: T45A
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000128143 Gene: ENSMUSG00000016179 AA Change: T45A
Domain | Start | End | E-Value | Type |
S_TKc
|
23 |
277 |
9.53e-112 |
SMART |
|
Meta Mutation Damage Score |
0.1663 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.3%
|
Validation Efficiency |
98% (54/55) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
T |
C |
5: 64,053,833 (GRCm39) |
|
probably benign |
Het |
1700066M21Rik |
T |
A |
1: 57,422,234 (GRCm39) |
N203K |
probably benign |
Het |
Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
Adgrl2 |
G |
A |
3: 148,523,187 (GRCm39) |
L1354F |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,616,000 (GRCm39) |
D65G |
probably damaging |
Het |
Aox1 |
G |
T |
1: 58,343,597 (GRCm39) |
V427L |
possibly damaging |
Het |
Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
Bptf |
A |
T |
11: 106,965,302 (GRCm39) |
D1182E |
probably damaging |
Het |
Caps2 |
C |
A |
10: 112,018,391 (GRCm39) |
Y180* |
probably null |
Het |
Cfap54 |
T |
A |
10: 92,881,140 (GRCm39) |
K349N |
probably damaging |
Het |
Chct1 |
A |
G |
11: 85,064,110 (GRCm39) |
S84G |
probably damaging |
Het |
Ciz1 |
A |
G |
2: 32,260,075 (GRCm39) |
D207G |
probably benign |
Het |
Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
Crabp2 |
A |
T |
3: 87,859,484 (GRCm39) |
K45* |
probably null |
Het |
Daam1 |
C |
A |
12: 71,993,872 (GRCm39) |
T425K |
unknown |
Het |
Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
Dlg4 |
G |
C |
11: 69,908,051 (GRCm39) |
R4T |
probably damaging |
Het |
Fbf1 |
A |
G |
11: 116,039,046 (GRCm39) |
I743T |
probably damaging |
Het |
Fen1 |
A |
G |
19: 10,177,655 (GRCm39) |
L263P |
probably damaging |
Het |
G6pc2 |
A |
G |
2: 69,050,456 (GRCm39) |
N27S |
probably damaging |
Het |
Garnl3 |
A |
T |
2: 32,924,723 (GRCm39) |
N246K |
probably damaging |
Het |
Gm7337 |
A |
C |
5: 87,999,416 (GRCm39) |
|
noncoding transcript |
Het |
Gpr152 |
A |
G |
19: 4,192,713 (GRCm39) |
T85A |
probably benign |
Het |
Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
Ighv1-81 |
C |
G |
12: 115,883,949 (GRCm39) |
E101Q |
probably benign |
Het |
Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
Myo9a |
C |
T |
9: 59,739,598 (GRCm39) |
|
probably benign |
Het |
Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
Or11g24 |
T |
A |
14: 50,662,488 (GRCm39) |
C171S |
probably damaging |
Het |
Or5an1c |
T |
C |
19: 12,218,860 (GRCm39) |
H55R |
probably benign |
Het |
Or6d13 |
C |
T |
6: 116,517,807 (GRCm39) |
A131V |
probably damaging |
Het |
Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
Phyh |
T |
A |
2: 4,942,482 (GRCm39) |
|
probably benign |
Het |
Pkp4 |
G |
T |
2: 59,138,449 (GRCm39) |
R233M |
probably damaging |
Het |
Plcb1 |
A |
T |
2: 135,177,402 (GRCm39) |
Q578L |
probably benign |
Het |
Ppil3 |
A |
T |
1: 58,473,573 (GRCm39) |
N92K |
probably benign |
Het |
Prokr1 |
C |
T |
6: 87,565,413 (GRCm39) |
R144H |
probably damaging |
Het |
Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
Rps2 |
G |
T |
17: 24,939,952 (GRCm39) |
A129S |
probably benign |
Het |
Sult2a4 |
T |
C |
7: 13,723,396 (GRCm39) |
T40A |
probably benign |
Het |
Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
Topaz1 |
T |
C |
9: 122,578,446 (GRCm39) |
I452T |
probably benign |
Het |
Ttn |
A |
G |
2: 76,663,581 (GRCm39) |
|
probably benign |
Het |
Vmn2r115 |
T |
A |
17: 23,575,998 (GRCm39) |
M532K |
possibly damaging |
Het |
Vmn2r117 |
A |
G |
17: 23,679,352 (GRCm39) |
L624P |
probably damaging |
Het |
Vstm5 |
T |
G |
9: 15,168,594 (GRCm39) |
S53A |
probably benign |
Het |
Wipf1 |
C |
T |
2: 73,265,293 (GRCm39) |
E437K |
probably damaging |
Het |
Wls |
G |
T |
3: 159,603,073 (GRCm39) |
C162F |
probably damaging |
Het |
Yeats2 |
T |
C |
16: 20,012,395 (GRCm39) |
V531A |
probably damaging |
Het |
Zfp868 |
A |
G |
8: 70,064,736 (GRCm39) |
S200P |
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 |
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 |
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'- GCACAATACCCACAGCTGTG -3'
(R):5'- AGCACACTGGTATGTCAGATAG -3'
Sequencing Primer
(F):5'- CTGTGGAAATCAAGCTCATTTGCC -3'
(R):5'- CACTGGTATGTCAGATAGGCAGTG -3'
|
Posted On |
2015-01-23 |