Incidental Mutation 'IGL01920:Csnk1g2'
| ID |
180069 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csnk1g2
|
| Ensembl Gene |
ENSMUSG00000003345 |
| Gene Name |
casein kinase 1, gamma 2 |
| Synonyms |
2810429I12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01920
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80458672-80476583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 80474262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 161
(L161P)
|
| 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: L188P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345
AA Change: L188P
| 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: L161P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345
AA Change: L161P
| 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 |
probably benign
Transcript: ENSMUST00000220163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219814
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220431
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
T |
8: 111,769,878 (GRCm39) |
R326W |
probably damaging |
Het |
| Acad11 |
T |
C |
9: 103,941,104 (GRCm39) |
|
probably null |
Het |
| Acat2 |
A |
G |
17: 13,162,912 (GRCm39) |
I312T |
probably benign |
Het |
| Adgrl3 |
T |
C |
5: 81,613,143 (GRCm39) |
V192A |
probably damaging |
Het |
| Akap1 |
T |
C |
11: 88,730,459 (GRCm39) |
H643R |
probably damaging |
Het |
| Akap7 |
A |
T |
10: 25,165,501 (GRCm39) |
C85* |
probably null |
Het |
| Ankrd11 |
T |
C |
8: 123,642,636 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
G |
A |
7: 144,165,191 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
A |
G |
11: 69,898,873 (GRCm39) |
H420R |
probably benign |
Het |
| Fam135b |
G |
T |
15: 71,493,885 (GRCm39) |
H15N |
possibly damaging |
Het |
| Foxj1 |
G |
T |
11: 116,222,746 (GRCm39) |
H352Q |
possibly damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Hectd1 |
T |
C |
12: 51,829,337 (GRCm39) |
I969M |
probably damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,131,258 (GRCm39) |
P544T |
probably benign |
Het |
| Or7g35 |
A |
C |
9: 19,496,318 (GRCm39) |
M162L |
probably benign |
Het |
| Pcnt |
A |
G |
10: 76,240,362 (GRCm39) |
L1224P |
probably damaging |
Het |
| Prss2 |
A |
G |
6: 41,501,477 (GRCm39) |
N182S |
possibly damaging |
Het |
| Sgsm1 |
A |
T |
5: 113,421,471 (GRCm39) |
W594R |
probably damaging |
Het |
| Slc38a1 |
C |
T |
15: 96,484,778 (GRCm39) |
A261T |
probably benign |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Vcan |
C |
T |
13: 89,837,324 (GRCm39) |
G2740E |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Vwa7 |
G |
A |
17: 35,243,579 (GRCm39) |
V729I |
probably benign |
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 |
|
IGL02887:Csnk1g2
|
APN |
10 |
80,474,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2845:Csnk1g2
|
UTSW |
10 |
80,474,438 (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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation