Incidental Mutation 'IGL00672:Csnk1g1'
| ID |
9914 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Csnk1g1
|
| Ensembl Gene |
ENSMUSG00000032384 |
| Gene Name |
casein kinase 1, gamma 1 |
| Synonyms |
9130020E21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.222)
|
| Stock # |
IGL00672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
65816235-65952297 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 65915028 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 229
(S229I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034949]
[ENSMUST00000117849]
[ENSMUST00000130798]
[ENSMUST00000136773]
[ENSMUST00000205379]
[ENSMUST00000206594]
[ENSMUST00000206528]
[ENSMUST00000206048]
[ENSMUST00000206969]
[ENSMUST00000208011]
|
| AlphaFold |
Q8BTH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034949
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: S229I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
44 |
302 |
2.5e-27 |
PFAM |
|
Pfam:Pkinase_Tyr
|
44 |
308 |
1.5e-14 |
PFAM |
|
Pfam:CK1gamma_C
|
331 |
429 |
2.8e-35 |
PFAM |
|
low complexity region
|
434 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
442 |
453 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117849
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113160
Gene: ENSMUSG00000032384
AA Change: S229I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
44 |
309 |
2.3e-14 |
PFAM |
|
Pfam:Pkinase
|
44 |
313 |
1.5e-35 |
PFAM |
|
Pfam:CK1gamma_C
|
331 |
392 |
4e-20 |
PFAM |
|
low complexity region
|
397 |
403 |
N/A |
INTRINSIC |
|
low complexity region
|
414 |
424 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000130798
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136773
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146069
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153391
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205379
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206594
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206528
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000205884
AA Change: S2I
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206048
AA Change: S229I
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206969
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208011
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the casein kinase I gene family. This family is comprised of serine/threonine kinases that phosphorylate acidic proteins such as caseins. The encoded kinase plays a role in cell cycle checkpoint arrest in response to stalled replication forks by phosphorylating Claspin. A mutation in this gene may be associated with non-syndromic early-onset epilepsy (NSEOE). [provided by RefSeq, Jul 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310030G06Rik |
A |
G |
9: 50,657,736 (GRCm39) |
|
probably benign |
Het |
| Adamts20 |
A |
G |
15: 94,238,986 (GRCm39) |
I744T |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,748,781 (GRCm39) |
A1202V |
probably damaging |
Het |
| C130032M10Rik |
A |
G |
9: 114,344,898 (GRCm39) |
V340A |
probably damaging |
Het |
| E130308A19Rik |
A |
G |
4: 59,719,697 (GRCm39) |
S410G |
probably benign |
Het |
| Eif2s2 |
T |
A |
2: 154,729,629 (GRCm39) |
I98L |
probably benign |
Het |
| En1 |
T |
C |
1: 120,534,667 (GRCm39) |
F319L |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,562 (GRCm39) |
Y345N |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,907,309 (GRCm39) |
|
probably benign |
Het |
| Gm12695 |
A |
G |
4: 96,637,419 (GRCm39) |
L366P |
probably damaging |
Het |
| Golga3 |
T |
C |
5: 110,360,110 (GRCm39) |
L1156S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,372,468 (GRCm39) |
|
probably benign |
Het |
| Hvcn1 |
C |
A |
5: 122,376,534 (GRCm39) |
F155L |
probably benign |
Het |
| Jcad |
T |
C |
18: 4,674,835 (GRCm39) |
S866P |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,261,751 (GRCm39) |
N642S |
probably benign |
Het |
| Kif2c |
T |
C |
4: 117,035,443 (GRCm39) |
I2V |
probably benign |
Het |
| Klri2 |
T |
A |
6: 129,710,034 (GRCm39) |
I189F |
probably damaging |
Het |
| Lair1 |
T |
A |
7: 4,031,730 (GRCm39) |
T126S |
probably benign |
Het |
| Lins1 |
A |
T |
7: 66,364,279 (GRCm39) |
K725* |
probably null |
Het |
| Lman2l |
T |
A |
1: 36,477,915 (GRCm39) |
|
probably null |
Het |
| Map3k10 |
T |
C |
7: 27,361,026 (GRCm39) |
K496E |
probably damaging |
Het |
| Nr2f2 |
A |
G |
7: 70,007,514 (GRCm39) |
S170P |
possibly damaging |
Het |
| Polr1b |
G |
A |
2: 128,967,392 (GRCm39) |
M928I |
probably damaging |
Het |
| Rffl |
G |
A |
11: 82,709,310 (GRCm39) |
P38S |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,434 (GRCm39) |
S802G |
probably benign |
Het |
| Sema5a |
A |
G |
15: 32,619,026 (GRCm39) |
E518G |
probably benign |
Het |
| Smdt1 |
G |
A |
15: 82,230,384 (GRCm39) |
V34I |
possibly damaging |
Het |
| Ssr3 |
C |
A |
3: 65,298,831 (GRCm39) |
A59S |
probably benign |
Het |
| Stk4 |
A |
G |
2: 163,959,999 (GRCm39) |
K59E |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,110,958 (GRCm39) |
T1024M |
probably damaging |
Het |
| Taf5 |
A |
T |
19: 47,070,740 (GRCm39) |
D723V |
probably damaging |
Het |
| Tescl |
T |
C |
7: 24,033,035 (GRCm39) |
T97A |
probably benign |
Het |
| Thada |
A |
T |
17: 84,751,646 (GRCm39) |
S443R |
probably benign |
Het |
| Trp53bp2 |
A |
T |
1: 182,268,541 (GRCm39) |
H205L |
probably benign |
Het |
| Ube4b |
A |
G |
4: 149,465,823 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp957 |
G |
T |
14: 79,450,838 (GRCm39) |
D320E |
unknown |
Het |
| Zfr2 |
T |
C |
10: 81,077,919 (GRCm39) |
S249P |
probably damaging |
Het |
| Zmpste24 |
A |
G |
4: 120,923,057 (GRCm39) |
I386T |
probably damaging |
Het |
|
| Other mutations in Csnk1g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02073:Csnk1g1
|
APN |
9 |
65,909,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02452:Csnk1g1
|
APN |
9 |
65,915,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0448:Csnk1g1
|
UTSW |
9 |
65,888,230 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0482:Csnk1g1
|
UTSW |
9 |
65,917,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0702:Csnk1g1
|
UTSW |
9 |
65,917,775 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0726:Csnk1g1
|
UTSW |
9 |
65,939,637 (GRCm39) |
splice site |
probably benign |
|
|
R1736:Csnk1g1
|
UTSW |
9 |
65,927,197 (GRCm39) |
splice site |
probably null |
|
|
R1815:Csnk1g1
|
UTSW |
9 |
65,939,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2063:Csnk1g1
|
UTSW |
9 |
65,909,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4366:Csnk1g1
|
UTSW |
9 |
65,927,135 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4382:Csnk1g1
|
UTSW |
9 |
65,927,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4384:Csnk1g1
|
UTSW |
9 |
65,927,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4385:Csnk1g1
|
UTSW |
9 |
65,927,190 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6783:Csnk1g1
|
UTSW |
9 |
65,880,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7877:Csnk1g1
|
UTSW |
9 |
65,906,830 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8430:Csnk1g1
|
UTSW |
9 |
65,906,803 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8477:Csnk1g1
|
UTSW |
9 |
65,909,555 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8726:Csnk1g1
|
UTSW |
9 |
65,909,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8895:Csnk1g1
|
UTSW |
9 |
65,915,109 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9022:Csnk1g1
|
UTSW |
9 |
65,917,854 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9033:Csnk1g1
|
UTSW |
9 |
65,915,070 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Csnk1g1
|
UTSW |
9 |
65,920,032 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2012-12-06 |
Incidental Mutation