Incidental Mutation 'R4135:Csnk1g2'
ID |
314855 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Csnk1g2
|
Ensembl Gene |
ENSMUSG00000003345 |
Gene Name |
casein kinase 1, gamma 2 |
Synonyms |
2810429I12Rik |
MMRRC Submission |
040995-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4135 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
80458672-80476583 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 80474130 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 145
(I145T)
|
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 |
possibly damaging
Transcript: ENSMUST00000079773
AA Change: I172T
PolyPhen 2
Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000078706 Gene: ENSMUSG00000003345 AA Change: I172T
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 |
possibly damaging
Transcript: ENSMUST00000085435
AA Change: I145T
PolyPhen 2
Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000082560 Gene: ENSMUSG00000003345 AA Change: I145T
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: ENSMUST00000219814
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000220163
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220431
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220025
|
Meta Mutation Damage Score |
0.2787 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (47/48) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930523C07Rik |
T |
A |
1: 159,905,092 (GRCm39) |
|
probably benign |
Het |
Bak1 |
T |
A |
17: 27,240,244 (GRCm39) |
T148S |
possibly damaging |
Het |
Cdc25a |
C |
A |
9: 109,710,585 (GRCm39) |
H157Q |
possibly damaging |
Het |
Chst5 |
T |
C |
8: 112,616,816 (GRCm39) |
Y268C |
probably damaging |
Het |
Ctsr |
T |
C |
13: 61,309,084 (GRCm39) |
T224A |
probably benign |
Het |
Cux1 |
T |
C |
5: 136,336,750 (GRCm39) |
K921E |
probably damaging |
Het |
Dcaf12l1 |
T |
C |
X: 43,878,330 (GRCm39) |
N156S |
probably damaging |
Het |
Dennd2d |
T |
A |
3: 106,389,977 (GRCm39) |
D2E |
probably benign |
Het |
Dock2 |
T |
C |
11: 34,605,328 (GRCm39) |
K264E |
possibly damaging |
Het |
Eif3c |
C |
G |
7: 126,165,471 (GRCm39) |
|
probably benign |
Het |
Gabrb3 |
G |
T |
7: 57,241,036 (GRCm39) |
A5S |
probably benign |
Het |
Gcnt2 |
T |
A |
13: 41,041,283 (GRCm39) |
N147K |
probably damaging |
Het |
Gm6987 |
T |
A |
X: 93,068,216 (GRCm39) |
|
noncoding transcript |
Het |
Hbp1 |
A |
T |
12: 31,984,421 (GRCm39) |
L262Q |
probably damaging |
Het |
Hsd11b2 |
T |
C |
8: 106,249,798 (GRCm39) |
V303A |
probably benign |
Het |
Htr5a |
A |
G |
5: 28,047,690 (GRCm39) |
M82V |
probably benign |
Het |
Mcc |
T |
C |
18: 44,857,707 (GRCm39) |
D136G |
probably benign |
Het |
Mrpl32 |
C |
T |
13: 14,787,564 (GRCm39) |
V14M |
probably damaging |
Het |
Msl1 |
A |
G |
11: 98,687,126 (GRCm39) |
D157G |
possibly damaging |
Het |
Mthfd1 |
G |
A |
12: 76,329,648 (GRCm39) |
|
probably null |
Het |
Nkx6-1 |
T |
A |
5: 101,807,371 (GRCm39) |
D337V |
probably damaging |
Het |
Nlrp5 |
T |
C |
7: 23,117,823 (GRCm39) |
W516R |
possibly damaging |
Het |
Or2ag1 |
A |
G |
7: 106,313,210 (GRCm39) |
L226P |
probably damaging |
Het |
Or2l13b |
T |
A |
16: 19,349,452 (GRCm39) |
I73F |
possibly damaging |
Het |
Or2y3 |
A |
G |
17: 38,393,248 (GRCm39) |
V207A |
possibly damaging |
Het |
Or4l1 |
T |
C |
14: 50,166,272 (GRCm39) |
H243R |
probably damaging |
Het |
Or5af1 |
C |
A |
11: 58,722,820 (GRCm39) |
T280K |
probably damaging |
Het |
Pate5 |
A |
G |
9: 35,750,724 (GRCm39) |
S33P |
possibly damaging |
Het |
Pold3 |
T |
A |
7: 99,749,854 (GRCm39) |
R104* |
probably null |
Het |
Rapsn |
A |
T |
2: 90,867,162 (GRCm39) |
N155Y |
probably damaging |
Het |
Rorc |
C |
A |
3: 94,296,826 (GRCm39) |
Q269K |
probably damaging |
Het |
Rreb1 |
A |
T |
13: 38,131,099 (GRCm39) |
N1418Y |
probably damaging |
Het |
Rusc2 |
G |
A |
4: 43,425,563 (GRCm39) |
D1223N |
possibly damaging |
Het |
Sema6d |
T |
C |
2: 124,506,040 (GRCm39) |
I616T |
probably damaging |
Het |
Ttc6 |
T |
A |
12: 57,679,581 (GRCm39) |
|
probably benign |
Het |
Ugt3a1 |
A |
T |
15: 9,338,810 (GRCm39) |
Y58F |
probably damaging |
Het |
Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
Vwa5b1 |
A |
T |
4: 138,321,641 (GRCm39) |
M384K |
possibly damaging |
Het |
Washc3 |
G |
A |
10: 88,055,142 (GRCm39) |
E111K |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,355,741 (GRCm39) |
S3501G |
probably benign |
Het |
Zfp1004 |
A |
T |
2: 150,023,788 (GRCm39) |
|
probably benign |
Het |
Zfp352 |
C |
T |
4: 90,113,261 (GRCm39) |
T467M |
probably damaging |
Het |
Zfp729a |
C |
A |
13: 67,767,925 (GRCm39) |
C768F |
probably damaging |
Het |
Zfp810 |
T |
C |
9: 22,190,369 (GRCm39) |
K180E |
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 |
|
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 |
R2845:Csnk1g2
|
UTSW |
10 |
80,474,438 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- TTTACAAGCAGCTCAGCACGAC -3'
(R):5'- GCCCAAAGTCGATGATGTGG -3'
Sequencing Primer
(F):5'- ACTCCTAGGCCAGCAGTG -3'
(R):5'- AGTGCTGCCGCTTGCTG -3'
|
Posted On |
2015-05-14 |