Incidental Mutation 'R5819:Chek1'
| ID |
449227 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Chek1
|
| Ensembl Gene |
ENSMUSG00000032113 |
| Gene Name |
checkpoint kinase 1 |
| Synonyms |
Chk1 |
| MMRRC Submission |
043399-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5819 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
36619935-36637897 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 36621701 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 420
(H420L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034625]
[ENSMUST00000172702]
[ENSMUST00000173963]
|
| AlphaFold |
O35280 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034625
AA Change: H454L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: H454L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
9 |
265 |
4.79e-85 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172702
AA Change: H454L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: H454L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
9 |
265 |
4.79e-85 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173534
AA Change: H410L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000134013
Gene: ENSMUSG00000032113
AA Change: H410L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
9 |
265 |
4.79e-85 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173963
AA Change: H420L
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: H420L
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
9 |
265 |
4.79e-85 |
SMART |
|
low complexity region
|
280 |
291 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174105
|
| SMART Domains |
Protein: ENSMUSP00000134398
Gene: ENSMUSG00000032113
| Domain | Start | End | E-Value | Type |
|---|
|
STYKc
|
1 |
99 |
4.6e-3 |
SMART |
|
low complexity region
|
114 |
125 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174794
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the Ser/Thr protein kinase family. It is required for checkpoint mediated cell cycle arrest in response to DNA damage or the presence of unreplicated DNA. This protein acts to integrate signals from ATM and ATR, two cell cycle proteins involved in DNA damage responses, that also associate with chromatin in meiotic prophase I. Phosphorylation of CDC25A protein phosphatase by this protein is required for cells to delay cell cycle progression in response to double-strand DNA breaks. Several alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene display embryonic lethality between E2.5 and E7.5, impaired cell cycle checkpoint function, increase in blastocyst apoptosis and lack of inner cell mass proliferation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
A |
T |
3: 121,930,630 (GRCm39) |
I1376F |
probably damaging |
Het |
| Aggf1 |
T |
C |
13: 95,488,129 (GRCm39) |
N673D |
possibly damaging |
Het |
| Avil |
T |
C |
10: 126,845,867 (GRCm39) |
F372S |
probably damaging |
Het |
| Bltp1 |
A |
T |
3: 37,102,749 (GRCm39) |
M4863L |
probably benign |
Het |
| Bod1l |
T |
A |
5: 41,989,948 (GRCm39) |
E258D |
probably benign |
Het |
| Cyfip1 |
A |
G |
7: 55,528,899 (GRCm39) |
I260M |
probably damaging |
Het |
| Dclk1 |
G |
A |
3: 55,397,285 (GRCm39) |
V524I |
probably damaging |
Het |
| Efr3b |
T |
C |
12: 4,042,965 (GRCm39) |
M102V |
probably benign |
Het |
| Erc2 |
T |
A |
14: 27,863,326 (GRCm39) |
I517N |
probably damaging |
Het |
| Fubp1 |
T |
C |
3: 151,926,190 (GRCm39) |
I305T |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,182,520 (GRCm39) |
D443V |
probably benign |
Het |
| Galnt4 |
T |
A |
10: 98,945,892 (GRCm39) |
I539N |
probably damaging |
Het |
| Gm17093 |
G |
T |
14: 44,758,986 (GRCm39) |
M169I |
unknown |
Het |
| Htra1 |
T |
C |
7: 130,583,469 (GRCm39) |
F363S |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,876 (GRCm39) |
K275N |
probably benign |
Het |
| Klhdc8b |
G |
A |
9: 108,328,261 (GRCm39) |
P64S |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,614,130 (GRCm39) |
|
probably null |
Het |
| Mettl21c |
T |
G |
1: 44,048,882 (GRCm39) |
K222Q |
probably damaging |
Het |
| Mga |
A |
C |
2: 119,771,744 (GRCm39) |
M1535L |
possibly damaging |
Het |
| Mov10 |
C |
T |
3: 104,708,828 (GRCm39) |
G395D |
probably damaging |
Het |
| Ms4a10 |
C |
A |
19: 10,946,054 (GRCm39) |
A26S |
probably benign |
Het |
| Mtcl3 |
A |
T |
10: 29,073,269 (GRCm39) |
M854L |
probably benign |
Het |
| Naaladl1 |
A |
G |
19: 6,159,684 (GRCm39) |
N372D |
possibly damaging |
Het |
| Optc |
T |
C |
1: 133,825,617 (GRCm39) |
D303G |
probably damaging |
Het |
| Or4f52 |
A |
T |
2: 111,061,304 (GRCm39) |
I278N |
probably damaging |
Het |
| Osmr |
C |
A |
15: 6,845,268 (GRCm39) |
V833L |
probably benign |
Het |
| Phf14 |
A |
G |
6: 11,997,251 (GRCm39) |
|
probably null |
Het |
| Pjvk |
A |
G |
2: 76,488,713 (GRCm39) |
I295V |
probably benign |
Het |
| Plppr4 |
T |
A |
3: 117,119,513 (GRCm39) |
I299L |
possibly damaging |
Het |
| Prkg1 |
A |
G |
19: 31,563,072 (GRCm39) |
S110P |
probably benign |
Het |
| Ptprq |
T |
A |
10: 107,555,744 (GRCm39) |
|
probably benign |
Het |
| Rarb |
T |
G |
14: 16,443,820 (GRCm38) |
N156T |
possibly damaging |
Het |
| Rgl3 |
A |
T |
9: 21,892,898 (GRCm39) |
|
probably null |
Het |
| Ruvbl1 |
A |
C |
6: 88,460,097 (GRCm39) |
|
probably null |
Het |
| S1pr1 |
G |
T |
3: 115,505,789 (GRCm39) |
C268* |
probably null |
Het |
| Sbk3 |
T |
C |
7: 4,972,996 (GRCm39) |
D58G |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,639 (GRCm39) |
H45L |
possibly damaging |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tas2r119 |
T |
C |
15: 32,177,452 (GRCm39) |
L6P |
probably damaging |
Het |
| Tcp11 |
A |
T |
17: 28,288,210 (GRCm39) |
F339L |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,039 (GRCm39) |
Y19C |
probably damaging |
Het |
| Tmprss5 |
T |
A |
9: 49,025,779 (GRCm39) |
|
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,052,521 (GRCm39) |
|
probably benign |
Het |
| Trp53bp1 |
G |
A |
2: 121,038,873 (GRCm39) |
R1397* |
probably null |
Het |
| Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
| Vmn2r13 |
T |
A |
5: 109,321,966 (GRCm39) |
M244L |
possibly damaging |
Het |
| Zfp777 |
C |
T |
6: 48,014,522 (GRCm39) |
E395K |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,171,935 (GRCm39) |
S156G |
probably benign |
Het |
|
| Other mutations in Chek1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00659:Chek1
|
APN |
9 |
36,633,895 (GRCm39) |
splice site |
probably null |
|
|
IGL01061:Chek1
|
APN |
9 |
36,625,815 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL01322:Chek1
|
APN |
9 |
36,629,717 (GRCm39) |
nonsense |
probably null |
|
|
IGL01627:Chek1
|
APN |
9 |
36,635,191 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02379:Chek1
|
APN |
9 |
36,635,242 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL03160:Chek1
|
APN |
9 |
36,633,941 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0558:Chek1
|
UTSW |
9 |
36,623,411 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1035:Chek1
|
UTSW |
9 |
36,627,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Chek1
|
UTSW |
9 |
36,637,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1466:Chek1
|
UTSW |
9 |
36,637,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1606:Chek1
|
UTSW |
9 |
36,630,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Chek1
|
UTSW |
9 |
36,625,737 (GRCm39) |
missense |
probably benign |
|
|
R2152:Chek1
|
UTSW |
9 |
36,635,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2153:Chek1
|
UTSW |
9 |
36,635,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2154:Chek1
|
UTSW |
9 |
36,635,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2270:Chek1
|
UTSW |
9 |
36,630,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4014:Chek1
|
UTSW |
9 |
36,634,050 (GRCm39) |
splice site |
probably benign |
|
|
R5285:Chek1
|
UTSW |
9 |
36,625,748 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5458:Chek1
|
UTSW |
9 |
36,625,725 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5547:Chek1
|
UTSW |
9 |
36,623,400 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5853:Chek1
|
UTSW |
9 |
36,624,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6334:Chek1
|
UTSW |
9 |
36,625,788 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R6353:Chek1
|
UTSW |
9 |
36,635,255 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7319:Chek1
|
UTSW |
9 |
36,633,939 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8235:Chek1
|
UTSW |
9 |
36,630,870 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8380:Chek1
|
UTSW |
9 |
36,623,408 (GRCm39) |
missense |
probably benign |
0.41 |
|
R8532:Chek1
|
UTSW |
9 |
36,630,988 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8693:Chek1
|
UTSW |
9 |
36,625,140 (GRCm39) |
missense |
probably benign |
|
|
R8762:Chek1
|
UTSW |
9 |
36,629,636 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8787:Chek1
|
UTSW |
9 |
36,625,033 (GRCm39) |
nonsense |
probably null |
|
|
R9511:Chek1
|
UTSW |
9 |
36,624,747 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9520:Chek1
|
UTSW |
9 |
36,625,121 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTTTGGGTAATGGGAAGAGAACTC -3'
(R):5'- GCTGGAATGTTGGTGCATAC -3'
Sequencing Primer
(F):5'- GCAGCACTCTATTCACCA -3'
(R):5'- ATACCTGCAATCCAGTATTCTCAG -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation