Incidental Mutation 'IGL01830:Chek2'
| ID |
154771 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Chek2
|
| Ensembl Gene |
ENSMUSG00000029521 |
| Gene Name |
checkpoint kinase 2 |
| Synonyms |
CHK2, Rad53 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01830
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
110987845-111022011 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 111021374 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 528
(L528Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000066679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066160]
[ENSMUST00000199937]
|
| AlphaFold |
Q9Z265 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066160
AA Change: L528Q
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000066679
Gene: ENSMUSG00000029521
AA Change: L528Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
72 |
N/A |
INTRINSIC |
|
FHA
|
116 |
179 |
5.14e-3 |
SMART |
|
S_TKc
|
224 |
490 |
7.35e-104 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198807
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199937
|
| SMART Domains |
Protein: ENSMUSP00000143558
Gene: ENSMUSG00000029521
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
37 |
N/A |
INTRINSIC |
|
low complexity region
|
41 |
72 |
N/A |
INTRINSIC |
|
FHA
|
116 |
179 |
2.6e-5 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In response to DNA damage and replication blocks, cell cycle progression is halted through the control of critical cell cycle regulators. The protein encoded by this gene is a cell cycle checkpoint regulator and putative tumor suppressor. It contains a forkhead-associated protein interaction domain essential for activation in response to DNA damage and is rapidly phosphorylated in response to replication blocks and DNA damage. When activated, the encoded protein is known to inhibit CDC25C phosphatase, preventing entry into mitosis, and has been shown to stabilize the tumor suppressor protein p53, leading to cell cycle arrest in G1. In addition, this protein interacts with and phosphorylates BRCA1, allowing BRCA1 to restore survival after DNA damage. Mutations in this gene have been linked with Li-Fraumeni syndrome, a highly penetrant familial cancer phenotype usually associated with inherited mutations in TP53. Also, mutations in this gene are thought to confer a predisposition to sarcomas, breast cancer, and brain tumors. This nuclear protein is a member of the CDS1 subfamily of serine/threonine protein kinases. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
PHENOTYPE: Homozygous mutation of this gene does not increase tumor incidence. Cells from the thymus, central nervous system (CNS), hair follicles, and skin are resistant to ionizing radiation- and gamma irradiation-induced apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahsg |
C |
A |
16: 22,717,779 (GRCm39) |
P252Q |
probably damaging |
Het |
| Anks4b |
T |
A |
7: 119,773,219 (GRCm39) |
N26K |
probably damaging |
Het |
| Arrdc5 |
C |
T |
17: 56,601,652 (GRCm39) |
V158I |
probably damaging |
Het |
| Catsper2 |
T |
C |
2: 121,237,843 (GRCm39) |
D179G |
probably damaging |
Het |
| Cd44 |
T |
C |
2: 102,672,603 (GRCm39) |
|
probably benign |
Het |
| Ceacam3 |
T |
A |
7: 16,888,925 (GRCm39) |
D231E |
possibly damaging |
Het |
| Cep57l1 |
C |
T |
10: 41,604,649 (GRCm39) |
C160Y |
probably benign |
Het |
| Ciita |
T |
C |
16: 10,338,915 (GRCm39) |
L973P |
probably damaging |
Het |
| Dock2 |
A |
T |
11: 34,582,744 (GRCm39) |
L637* |
probably null |
Het |
| Fsip2 |
A |
C |
2: 82,815,273 (GRCm39) |
I3669L |
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,578,968 (GRCm39) |
V1218A |
probably benign |
Het |
| Gip |
T |
C |
11: 95,919,550 (GRCm39) |
L91S |
possibly damaging |
Het |
| Gp2 |
T |
C |
7: 119,050,765 (GRCm39) |
D322G |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,442,636 (GRCm39) |
V177A |
probably damaging |
Het |
| Kng2 |
T |
C |
16: 22,806,801 (GRCm39) |
D466G |
probably damaging |
Het |
| Lpar5 |
G |
A |
6: 125,058,785 (GRCm39) |
A169T |
probably benign |
Het |
| Med13 |
C |
T |
11: 86,179,754 (GRCm39) |
|
probably benign |
Het |
| Meiob |
T |
A |
17: 25,054,105 (GRCm39) |
C391S |
probably benign |
Het |
| Mgat5 |
A |
G |
1: 127,339,869 (GRCm39) |
T417A |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,836,624 (GRCm39) |
L279* |
probably null |
Het |
| Myo1g |
T |
A |
11: 6,464,522 (GRCm39) |
K513* |
probably null |
Het |
| Nxpe2 |
A |
T |
9: 48,237,794 (GRCm39) |
S154T |
probably damaging |
Het |
| Ogn |
C |
T |
13: 49,762,723 (GRCm39) |
Q22* |
probably null |
Het |
| Or4c12 |
A |
G |
2: 89,773,775 (GRCm39) |
L228S |
probably benign |
Het |
| Pacs2 |
A |
T |
12: 113,020,574 (GRCm39) |
K316* |
probably null |
Het |
| Pelo |
T |
A |
13: 115,225,131 (GRCm39) |
I365F |
probably damaging |
Het |
| Phf3 |
G |
A |
1: 30,853,148 (GRCm39) |
Q1021* |
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,522,154 (GRCm39) |
D240G |
probably damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,284 (GRCm39) |
M203T |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,102,153 (GRCm39) |
|
probably benign |
Het |
| Rabgef1 |
G |
T |
5: 130,240,907 (GRCm39) |
C342F |
possibly damaging |
Het |
| Rbm19 |
A |
C |
5: 120,262,760 (GRCm39) |
K307T |
possibly damaging |
Het |
| Sdcbp2 |
T |
A |
2: 151,431,494 (GRCm39) |
I289N |
probably damaging |
Het |
| Slc5a12 |
G |
A |
2: 110,428,151 (GRCm39) |
G69R |
probably damaging |
Het |
| Spag1 |
C |
A |
15: 36,221,705 (GRCm39) |
S599R |
probably benign |
Het |
| Ubr4 |
A |
T |
4: 139,199,811 (GRCm39) |
D4565V |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
| Vmn1r225 |
T |
C |
17: 20,722,717 (GRCm39) |
S53P |
probably damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,272,767 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Chek2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Chek2
|
APN |
5 |
110,996,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01943:Chek2
|
APN |
5 |
110,989,093 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02319:Chek2
|
APN |
5 |
111,014,877 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL03147:Chek2
|
UTSW |
5 |
110,996,536 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Chek2
|
UTSW |
5 |
111,011,195 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1484:Chek2
|
UTSW |
5 |
110,996,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1486:Chek2
|
UTSW |
5 |
110,989,093 (GRCm39) |
unclassified |
probably benign |
|
|
R1732:Chek2
|
UTSW |
5 |
111,019,968 (GRCm39) |
missense |
probably benign |
0.26 |
|
R2041:Chek2
|
UTSW |
5 |
110,996,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2071:Chek2
|
UTSW |
5 |
110,989,112 (GRCm39) |
unclassified |
probably benign |
|
|
R2873:Chek2
|
UTSW |
5 |
111,011,202 (GRCm39) |
nonsense |
probably null |
|
|
R2935:Chek2
|
UTSW |
5 |
111,015,886 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3899:Chek2
|
UTSW |
5 |
111,013,479 (GRCm39) |
splice site |
probably benign |
|
|
R4662:Chek2
|
UTSW |
5 |
111,014,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Chek2
|
UTSW |
5 |
111,003,705 (GRCm39) |
splice site |
probably null |
|
|
R5358:Chek2
|
UTSW |
5 |
110,989,148 (GRCm39) |
unclassified |
probably benign |
|
|
R5582:Chek2
|
UTSW |
5 |
111,015,901 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5594:Chek2
|
UTSW |
5 |
111,003,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6526:Chek2
|
UTSW |
5 |
110,996,556 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6972:Chek2
|
UTSW |
5 |
111,003,705 (GRCm39) |
splice site |
probably null |
|
|
R7232:Chek2
|
UTSW |
5 |
111,008,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7338:Chek2
|
UTSW |
5 |
111,021,380 (GRCm39) |
missense |
probably benign |
|
|
R7395:Chek2
|
UTSW |
5 |
111,019,974 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7714:Chek2
|
UTSW |
5 |
110,989,319 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7743:Chek2
|
UTSW |
5 |
110,987,916 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8290:Chek2
|
UTSW |
5 |
111,008,766 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8297:Chek2
|
UTSW |
5 |
110,996,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Chek2
|
UTSW |
5 |
111,014,908 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8898:Chek2
|
UTSW |
5 |
111,011,175 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8906:Chek2
|
UTSW |
5 |
111,013,458 (GRCm39) |
utr 3 prime |
probably benign |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation