Incidental Mutation 'R3162:Camk1g'
| ID |
349825 |
| 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 |
040613-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.093)
|
| Stock # |
R3162 (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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
98% (62/63) |
| 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 |
|---|
| 4933412E24Rik |
T |
A |
15: 59,888,134 (GRCm39) |
E102V |
probably damaging |
Het |
| 9930014A18Rik |
A |
T |
15: 60,695,296 (GRCm39) |
V150E |
probably damaging |
Het |
| Adcy9 |
A |
G |
16: 4,129,452 (GRCm39) |
L715P |
probably damaging |
Het |
| Atad2b |
C |
A |
12: 4,989,689 (GRCm39) |
N133K |
possibly damaging |
Het |
| AW551984 |
C |
A |
9: 39,504,325 (GRCm39) |
R547L |
probably damaging |
Het |
| B3galt6 |
A |
G |
4: 156,076,464 (GRCm39) |
Y204H |
probably benign |
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 |
| Copa |
T |
A |
1: 171,918,800 (GRCm39) |
C127S |
probably damaging |
Het |
| Dapk2 |
T |
G |
9: 66,161,893 (GRCm39) |
V267G |
probably damaging |
Het |
| Ddb1 |
T |
C |
19: 10,603,335 (GRCm39) |
L881P |
probably damaging |
Het |
| Decr1 |
T |
A |
4: 15,930,972 (GRCm39) |
D120V |
probably damaging |
Het |
| Dennd1c |
C |
T |
17: 57,373,562 (GRCm39) |
G637D |
possibly damaging |
Het |
| Dhrs3 |
A |
G |
4: 144,646,016 (GRCm39) |
D108G |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,868,806 (GRCm39) |
K1205E |
probably benign |
Het |
| Dusp6 |
T |
C |
10: 99,099,944 (GRCm39) |
Y131H |
probably damaging |
Het |
| Eif2b2 |
A |
T |
12: 85,266,435 (GRCm39) |
M34L |
probably benign |
Het |
| Errfi1 |
G |
A |
4: 150,951,816 (GRCm39) |
E415K |
probably damaging |
Het |
| Ext1 |
T |
C |
15: 53,208,000 (GRCm39) |
N254D |
possibly damaging |
Het |
| Gm13141 |
GGTTTCTTGATGCC |
G |
4: 147,612,561 (GRCm39) |
|
noncoding transcript |
Het |
| Hnrnpu |
T |
C |
1: 178,158,690 (GRCm39) |
|
probably benign |
Het |
| Hpx |
C |
T |
7: 105,248,847 (GRCm39) |
|
probably benign |
Het |
| Hyal3 |
T |
A |
9: 107,464,005 (GRCm39) |
C407S |
probably damaging |
Het |
| Insr |
T |
G |
8: 3,211,416 (GRCm39) |
N1141T |
possibly damaging |
Het |
| Ipo9 |
T |
C |
1: 135,337,214 (GRCm39) |
T174A |
probably benign |
Het |
| Ivd |
T |
C |
2: 118,692,650 (GRCm39) |
|
probably null |
Het |
| Leprot |
C |
T |
4: 101,515,090 (GRCm39) |
T89I |
probably damaging |
Het |
| Msh6 |
T |
C |
17: 88,292,909 (GRCm39) |
Y555H |
probably damaging |
Het |
| Nup155 |
G |
T |
15: 8,177,867 (GRCm39) |
R1083S |
possibly damaging |
Het |
| Nusap1 |
A |
T |
2: 119,460,885 (GRCm39) |
Q126L |
possibly damaging |
Het |
| Or13c7b |
T |
A |
4: 43,820,544 (GRCm39) |
K272N |
probably benign |
Het |
| Or5al1 |
T |
C |
2: 85,990,439 (GRCm39) |
I92V |
probably benign |
Het |
| Or6x1 |
G |
T |
9: 40,098,901 (GRCm39) |
Q163H |
probably benign |
Het |
| Or7a35 |
C |
A |
10: 78,853,438 (GRCm39) |
T94N |
probably benign |
Het |
| Pdik1l |
A |
G |
4: 134,011,561 (GRCm39) |
L94S |
probably damaging |
Het |
| Pkdrej |
T |
A |
15: 85,700,818 (GRCm39) |
D1706V |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,368,924 (GRCm39) |
I856M |
probably damaging |
Het |
| Prkcz |
A |
T |
4: 155,374,981 (GRCm39) |
D114E |
probably benign |
Het |
| Psap |
T |
C |
10: 60,113,575 (GRCm39) |
L4P |
possibly damaging |
Het |
| Ptprk |
T |
C |
10: 28,468,822 (GRCm39) |
V1402A |
probably benign |
Het |
| Rai14 |
T |
C |
15: 10,633,250 (GRCm39) |
T47A |
possibly damaging |
Het |
| Rlf |
A |
G |
4: 121,006,044 (GRCm39) |
S979P |
probably damaging |
Het |
| Skic2 |
C |
T |
17: 35,066,789 (GRCm39) |
W88* |
probably null |
Het |
| Skic8 |
T |
A |
9: 54,631,473 (GRCm39) |
|
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,437,643 (GRCm39) |
D233E |
probably benign |
Het |
| Tacr2 |
A |
G |
10: 62,101,024 (GRCm39) |
D378G |
probably benign |
Het |
| Taok2 |
A |
G |
7: 126,474,347 (GRCm39) |
I294T |
possibly damaging |
Het |
| Tert |
A |
G |
13: 73,775,528 (GRCm39) |
E93G |
possibly damaging |
Het |
| Tns2 |
A |
G |
15: 102,021,771 (GRCm39) |
E1118G |
possibly damaging |
Het |
| Ttc22 |
A |
T |
4: 106,480,276 (GRCm39) |
I177F |
probably damaging |
Het |
| Vmn2r86 |
T |
C |
10: 130,291,673 (GRCm39) |
R31G |
probably damaging |
Het |
| Wnt5a |
T |
C |
14: 28,244,445 (GRCm39) |
Y231H |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,988,860 (GRCm39) |
Y709H |
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 |
|
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'- TGGAAATCAAGCTCATTTGCC -3'
(R):5'- TGTCCCGTGTGATCCTCAAG -3'
Sequencing Primer
(F):5'- TCAAGCTCATTTGCCATAAAGG -3'
(R):5'- CACACTGGTATGTCAGATAGGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation