Incidental Mutation 'IGL01657:Csnk1g2'
| ID |
103067 |
| 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 # |
IGL01657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80458672-80476583 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80475463 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 378
(H378R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000078706
(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 benign
Transcript: ENSMUST00000079773
AA Change: H378R
PolyPhen 2
Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000078706
Gene: ENSMUSG00000003345
AA Change: H378R
| 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 benign
Transcript: ENSMUST00000085435
AA Change: H351R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000082560
Gene: ENSMUSG00000003345
AA Change: H351R
| 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: ENSMUST00000151794
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217902
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220025
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220431
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218093
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219814
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,865,574 (GRCm39) |
F90L |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,021,968 (GRCm39) |
Y683* |
probably null |
Het |
| Astn2 |
T |
G |
4: 65,570,186 (GRCm39) |
D773A |
probably damaging |
Het |
| Atp2b3 |
T |
C |
X: 72,588,966 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,291,693 (GRCm39) |
M22T |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,606 (GRCm39) |
L4169H |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,939,431 (GRCm39) |
V81A |
probably benign |
Het |
| Clcn2 |
A |
T |
16: 20,532,369 (GRCm39) |
C80S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,121 (GRCm39) |
A318V |
possibly damaging |
Het |
| Decr2 |
T |
A |
17: 26,301,926 (GRCm39) |
D268V |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,332 (GRCm39) |
T247A |
possibly damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,500,966 (GRCm39) |
N774D |
possibly damaging |
Het |
| Epha4 |
A |
T |
1: 77,403,475 (GRCm39) |
V344E |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ggcx |
T |
A |
6: 72,406,941 (GRCm39) |
|
probably null |
Het |
| Gm1965 |
C |
T |
6: 89,123,648 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
T |
C |
13: 24,937,687 (GRCm39) |
E101G |
probably damaging |
Het |
| Grik2 |
C |
T |
10: 49,404,082 (GRCm39) |
|
probably null |
Het |
| H2-M11 |
T |
A |
17: 36,858,465 (GRCm39) |
D86E |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,618,077 (GRCm39) |
W164R |
probably damaging |
Het |
| Ilvbl |
G |
T |
10: 78,412,602 (GRCm39) |
V108L |
possibly damaging |
Het |
| Klk10 |
A |
G |
7: 43,431,013 (GRCm39) |
K19E |
possibly damaging |
Het |
| Mbd4 |
G |
T |
6: 115,826,598 (GRCm39) |
T131N |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,983,120 (GRCm39) |
V956A |
possibly damaging |
Het |
| Nif3l1 |
A |
C |
1: 58,494,771 (GRCm39) |
T247P |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,583 (GRCm39) |
V443A |
probably damaging |
Het |
| Or4c35 |
A |
G |
2: 89,808,221 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pigk |
T |
A |
3: 152,428,157 (GRCm39) |
H61Q |
probably damaging |
Het |
| Pla2g4d |
C |
A |
2: 120,105,768 (GRCm39) |
V431F |
possibly damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,778 (GRCm39) |
H18Q |
possibly damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,184,757 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
T |
G |
7: 143,052,837 (GRCm39) |
L354R |
probably damaging |
Het |
| Slc26a10 |
A |
G |
10: 127,010,903 (GRCm39) |
V443A |
probably damaging |
Het |
| Smpx |
A |
G |
X: 156,497,676 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,908,491 (GRCm39) |
S1751G |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,558,658 (GRCm39) |
T3629I |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,838,705 (GRCm39) |
V2280M |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,619 (GRCm39) |
E71G |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,746,178 (GRCm39) |
I446F |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,455 (GRCm39) |
V449D |
probably damaging |
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 |
|
|
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 |
|
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 |
2014-01-21 |
Incidental Mutation