Incidental Mutation 'R8430:Csnk1g1'
| ID |
653713 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Csnk1g1
|
| Ensembl Gene |
ENSMUSG00000032384 |
| Gene Name |
casein kinase 1, gamma 1 |
| Synonyms |
9130020E21Rik |
| MMRRC Submission |
067775-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
R8430 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
65816235-65952297 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 65906803 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 140
(T140K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034949
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034949]
[ENSMUST00000117849]
[ENSMUST00000130798]
[ENSMUST00000205379]
[ENSMUST00000206048]
[ENSMUST00000206528]
[ENSMUST00000206594]
[ENSMUST00000207167]
[ENSMUST00000208011]
|
| AlphaFold |
Q8BTH8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034949
AA Change: T140K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034949
Gene: ENSMUSG00000032384
AA Change: T140K
| 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: T140K
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113160
Gene: ENSMUSG00000032384
AA Change: T140K
| 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: T140K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000205379
AA Change: T140K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206048
AA Change: T140K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206528
AA Change: T140K
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000206594
AA Change: T140K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207167
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000208011
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aass |
G |
A |
6: 23,078,981 (GRCm39) |
T677I |
probably benign |
Het |
| Adh4 |
T |
G |
3: 138,128,145 (GRCm39) |
N190K |
probably damaging |
Het |
| Ahnak2 |
A |
T |
12: 112,741,121 (GRCm39) |
S984T |
possibly damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,037 (GRCm39) |
D17G |
possibly damaging |
Het |
| Ankrd11 |
T |
C |
8: 123,620,105 (GRCm39) |
N1249S |
probably benign |
Het |
| Ankrd31 |
A |
G |
13: 96,988,199 (GRCm39) |
K1071E |
possibly damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,698,437 (GRCm39) |
L120P |
probably damaging |
Het |
| AU040320 |
C |
A |
4: 126,742,693 (GRCm39) |
A986E |
possibly damaging |
Het |
| Camkv |
T |
C |
9: 107,824,968 (GRCm39) |
M323T |
probably damaging |
Het |
| Cdh18 |
T |
G |
15: 23,226,770 (GRCm39) |
L77R |
probably damaging |
Het |
| Col24a1 |
C |
T |
3: 145,021,060 (GRCm39) |
T477M |
probably damaging |
Het |
| Cpeb3 |
A |
T |
19: 37,002,406 (GRCm39) |
F669I |
probably damaging |
Het |
| Cramp1 |
A |
T |
17: 25,196,536 (GRCm39) |
H859Q |
probably damaging |
Het |
| Ctnnbl1 |
A |
G |
2: 157,678,603 (GRCm39) |
E402G |
probably damaging |
Het |
| Cyp20a1 |
T |
C |
1: 60,402,488 (GRCm39) |
V191A |
possibly damaging |
Het |
| Dkk3 |
A |
G |
7: 111,720,853 (GRCm39) |
Y158H |
probably damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,765,708 (GRCm39) |
N835S |
probably damaging |
Het |
| Fggy |
GCACCA |
GCA |
4: 95,815,002 (GRCm39) |
|
probably benign |
Het |
| Gpatch1 |
G |
A |
7: 35,007,634 (GRCm39) |
T142M |
probably damaging |
Het |
| Gtf3c2 |
G |
A |
5: 31,330,403 (GRCm39) |
A189V |
probably damaging |
Het |
| Heatr5b |
T |
C |
17: 79,137,053 (GRCm39) |
I156V |
probably damaging |
Het |
| Itpka |
T |
A |
2: 119,580,035 (GRCm39) |
V258E |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,526,252 (GRCm39) |
S327P |
possibly damaging |
Het |
| L1td1 |
C |
T |
4: 98,626,109 (GRCm39) |
T702I |
probably damaging |
Het |
| Lap3 |
A |
G |
5: 45,654,726 (GRCm39) |
D110G |
probably benign |
Het |
| Mab21l1 |
C |
A |
3: 55,690,830 (GRCm39) |
A139E |
probably damaging |
Het |
| Myo15b |
G |
A |
11: 115,773,049 (GRCm39) |
V173M |
probably benign |
Het |
| Or12e1 |
T |
G |
2: 87,022,564 (GRCm39) |
S178A |
possibly damaging |
Het |
| Or2a57 |
G |
A |
6: 43,212,894 (GRCm39) |
M117I |
probably benign |
Het |
| Or52ab4 |
G |
T |
7: 102,988,164 (GRCm39) |
R301L |
probably benign |
Het |
| Or5m10b |
A |
T |
2: 85,699,526 (GRCm39) |
M197L |
probably benign |
Het |
| Rdh7 |
A |
G |
10: 127,723,495 (GRCm39) |
I120T |
probably benign |
Het |
| Rsph3a |
G |
T |
17: 8,171,403 (GRCm39) |
G173W |
probably damaging |
Het |
| Sec22b |
T |
C |
3: 97,828,546 (GRCm39) |
F203S |
probably benign |
Het |
| Sulf2 |
C |
T |
2: 165,916,736 (GRCm39) |
G867E |
probably benign |
Het |
| Tia1 |
A |
T |
6: 86,395,906 (GRCm39) |
D90V |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,568,537 (GRCm39) |
D1561G |
probably benign |
Het |
| Trav9d-1 |
A |
G |
14: 53,030,217 (GRCm39) |
Y107C |
probably damaging |
Het |
| Trim32 |
T |
C |
4: 65,532,943 (GRCm39) |
V500A |
probably damaging |
Het |
| Ube2f |
G |
A |
1: 91,181,989 (GRCm39) |
|
probably benign |
Het |
| Ulk4 |
C |
T |
9: 121,086,144 (GRCm39) |
|
probably null |
Het |
| Zfp940 |
A |
G |
7: 29,544,771 (GRCm39) |
F379L |
probably benign |
Het |
|
| Other mutations in Csnk1g1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Csnk1g1
|
APN |
9 |
65,915,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGTTTAACTTTTCCAGGAGGG -3'
(R):5'- AGCAGCTGCAATAGTTCCTTTC -3'
Sequencing Primer
(F):5'- GGGACTCTGAAAGGAAATTGAAATC -3'
(R):5'- GCAGCTGCAATAGTTCCTTTCAGAAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation