Incidental Mutation 'R2845:Csnk1g2'
| ID |
251532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csnk1g2
|
| Ensembl Gene |
ENSMUSG00000003345 |
| Gene Name |
casein kinase 1, gamma 2 |
| Synonyms |
2810429I12Rik |
| MMRRC Submission |
040438-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2845 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80458672-80476583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80474438 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 220
(S220G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000082560
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003434]
[ENSMUST00000079773]
[ENSMUST00000085435]
[ENSMUST00000126980]
|
| AlphaFold |
Q8BVP5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003434
|
| SMART Domains |
Protein: ENSMUSP00000003434
Gene: ENSMUSG00000003344
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
68 |
N/A |
INTRINSIC |
|
BTB
|
115 |
215 |
9.96e-25 |
SMART |
|
BACK
|
220 |
328 |
6.36e-13 |
SMART |
|
Pfam:PHR
|
373 |
522 |
7.1e-57 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000079773
AA Change: S247G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345
AA Change: S247G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
Pfam:Pkinase
|
126 |
329 |
2e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
128 |
329 |
6.2e-10 |
PFAM |
|
Pfam:CK1gamma_C
|
382 |
412 |
4e-11 |
PFAM |
|
low complexity region
|
425 |
436 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000085435
AA Change: S220G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345
AA Change: S220G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
|
Pfam:Pkinase_Tyr
|
46 |
308 |
1.3e-14 |
PFAM |
|
Pfam:Pkinase
|
46 |
313 |
7.6e-35 |
PFAM |
|
Pfam:CK1gamma_C
|
354 |
385 |
1.2e-11 |
PFAM |
|
low complexity region
|
398 |
409 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126980
|
| SMART Domains |
Protein: ENSMUSP00000120751
Gene: ENSMUSG00000003344
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
12 |
53 |
N/A |
INTRINSIC |
|
BTB
|
100 |
200 |
9.96e-25 |
SMART |
|
BACK
|
205 |
313 |
6.36e-13 |
SMART |
|
Pfam:PHR
|
358 |
508 |
4.3e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219814
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220431
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap25 |
C |
T |
6: 87,436,949 (GRCm39) |
E634K |
possibly damaging |
Het |
| Atg4a |
G |
A |
X: 139,893,589 (GRCm39) |
E106K |
probably benign |
Het |
| Bahd1 |
G |
A |
2: 118,753,004 (GRCm39) |
R757H |
probably damaging |
Het |
| Cep152 |
A |
G |
2: 125,429,894 (GRCm39) |
I676T |
probably damaging |
Het |
| Cherp |
C |
A |
8: 73,220,247 (GRCm39) |
A449S |
probably damaging |
Het |
| Col19a1 |
C |
T |
1: 24,598,762 (GRCm39) |
G77E |
unknown |
Het |
| Cplane1 |
G |
A |
15: 8,245,864 (GRCm39) |
R1412H |
probably damaging |
Het |
| Efcab7 |
T |
A |
4: 99,766,835 (GRCm39) |
V20D |
probably damaging |
Het |
| Fhad1 |
G |
T |
4: 141,632,279 (GRCm39) |
Q1287K |
probably benign |
Het |
| Frem3 |
T |
C |
8: 81,339,849 (GRCm39) |
F714S |
probably damaging |
Het |
| Gpx6 |
A |
T |
13: 21,503,045 (GRCm39) |
|
probably null |
Het |
| Hsd3b1 |
T |
C |
3: 98,760,094 (GRCm39) |
E299G |
probably damaging |
Het |
| Mark2 |
T |
C |
19: 7,264,227 (GRCm39) |
E116G |
probably damaging |
Het |
| Mrgpra2a |
T |
A |
7: 47,076,878 (GRCm39) |
M127L |
probably benign |
Het |
| Or10al3 |
T |
C |
17: 38,011,714 (GRCm39) |
I51T |
probably damaging |
Het |
| Pign |
C |
A |
1: 105,585,521 (GRCm39) |
L9F |
possibly damaging |
Het |
| Plekha1 |
G |
T |
7: 130,510,095 (GRCm39) |
W280C |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,061,056 (GRCm39) |
|
probably benign |
Het |
| Pramel22 |
G |
A |
4: 143,380,868 (GRCm39) |
S385F |
probably damaging |
Het |
| Psmd13 |
C |
A |
7: 140,477,653 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
T |
A |
4: 131,546,972 (GRCm39) |
I168F |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,421 (GRCm39) |
|
probably null |
Het |
| Skint10 |
T |
C |
4: 112,573,023 (GRCm39) |
S258G |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Ssh3 |
T |
C |
19: 4,315,324 (GRCm39) |
Y338C |
probably damaging |
Het |
| Tas2r138 |
T |
C |
6: 40,589,701 (GRCm39) |
S182G |
probably benign |
Het |
| Tgfbr3l |
A |
G |
8: 4,299,280 (GRCm39) |
D49G |
probably damaging |
Het |
| Zbtb8os |
A |
T |
4: 129,235,309 (GRCm39) |
E54D |
probably damaging |
Het |
| Zfp24 |
G |
T |
18: 24,150,885 (GRCm39) |
T87K |
probably damaging |
Het |
| Zfp407 |
G |
T |
18: 84,576,522 (GRCm39) |
C1530* |
probably null |
Het |
|
| Other mutations in Csnk1g2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01066:Csnk1g2
|
APN |
10 |
80,470,481 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01657:Csnk1g2
|
APN |
10 |
80,475,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01920:Csnk1g2
|
APN |
10 |
80,474,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02887:Csnk1g2
|
APN |
10 |
80,474,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4135:Csnk1g2
|
UTSW |
10 |
80,474,130 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4626:Csnk1g2
|
UTSW |
10 |
80,475,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4717:Csnk1g2
|
UTSW |
10 |
80,473,749 (GRCm39) |
missense |
probably benign |
0.36 |
|
R4729:Csnk1g2
|
UTSW |
10 |
80,475,038 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5546:Csnk1g2
|
UTSW |
10 |
80,474,232 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6000:Csnk1g2
|
UTSW |
10 |
80,474,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6415:Csnk1g2
|
UTSW |
10 |
80,474,130 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6449:Csnk1g2
|
UTSW |
10 |
80,475,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7144:Csnk1g2
|
UTSW |
10 |
80,473,733 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Csnk1g2
|
UTSW |
10 |
80,470,332 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7316:Csnk1g2
|
UTSW |
10 |
80,475,687 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8169:Csnk1g2
|
UTSW |
10 |
80,475,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Csnk1g2
|
UTSW |
10 |
80,475,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8227:Csnk1g2
|
UTSW |
10 |
80,474,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8724:Csnk1g2
|
UTSW |
10 |
80,474,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8816:Csnk1g2
|
UTSW |
10 |
80,474,093 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8960:Csnk1g2
|
UTSW |
10 |
80,474,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9243:Csnk1g2
|
UTSW |
10 |
80,475,648 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9322:Csnk1g2
|
UTSW |
10 |
80,474,978 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9751:Csnk1g2
|
UTSW |
10 |
80,473,745 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTACGTGCACACCAAGAGC -3'
(R):5'- GAAAGGCCATACCCACCTTG -3'
Sequencing Primer
(F):5'- CCTCATCTACCGTGACGTGAAG -3'
(R):5'- ATACCCACCTTGAGCCCCTG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation