Mutagenetix > Incidental Mutation

Incidental Mutation 'R1466:Chek1'

166062

Institutional Source

Beutler Lab

Gene Symbol

Chek1

Ensembl Gene

ENSMUSG00000032113

Gene Name

checkpoint kinase 1

Synonyms

Chk1

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1466 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36619935-36637897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36637153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 2 (A2E)

Ref Sequence

ENSEMBL: ENSMUSP00000134029 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034625] [ENSMUST00000120381] [ENSMUST00000172702] [ENSMUST00000172742] [ENSMUST00000173963]

AlphaFold

O35280

Predicted Effect

possibly damaging
Transcript: ENSMUST00000034625
AA Change: A2E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: A2E

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: ENSMUST00000120381

SMART Domains

Protein: ENSMUSP00000113116
Gene: ENSMUSG00000032116

Domain	Start	End	E-Value	Type
Pfam:STT3	17	484	2e-163	PFAM
Pfam:PMT_2	97	257	9.3e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172702
AA Change: A2E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: A2E

Domain	Start	End	E-Value	Type
S_TKc	9	265	4.79e-85	SMART
low complexity region	280	291	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172742
AA Change: A2E

PolyPhen 2 Score 0.876 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133589
Gene: ENSMUSG00000032113
AA Change: A2E

Domain	Start	End	E-Value	Type
Pfam:Pkinase	9	73	9.9e-13	PFAM
Pfam:Pkinase_Tyr	9	74	8.5e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000173534
AA Change: A2E

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000134013
Gene: ENSMUSG00000032113
AA Change: A2E

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: ENSMUST00000173796

Predicted Effect

probably damaging
Transcript: ENSMUST00000173963
AA Change: A2E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: A2E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000173977

Coding Region Coverage

1x: 99.4%
3x: 97.9%
10x: 90.8%
20x: 71.5%

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: 108 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd15	C	T	11: 77,406,236 (GRCm39)	A71V	probably damaging	Het
Adamts12	T	C	15: 11,311,445 (GRCm39)	F1234S	probably benign	Het
Ahnak	A	G	19: 8,993,239 (GRCm39)	D4841G	probably damaging	Het
Akap13	T	C	7: 75,378,797 (GRCm39)	S2095P	possibly damaging	Het
Ampd2	T	C	3: 107,987,653 (GRCm39)		probably null	Het
Arhgef17	G	T	7: 100,578,866 (GRCm39)	P694Q	possibly damaging	Het
Arrdc1	T	C	2: 24,815,807 (GRCm39)	I398V	probably benign	Het
Ash1l	T	C	3: 88,959,372 (GRCm39)	Y2250H	probably damaging	Het
Aspg	A	G	12: 112,088,286 (GRCm39)	N385D	probably benign	Het
Atxn3	G	A	12: 101,892,758 (GRCm39)	R319C	possibly damaging	Het
Brca2	G	A	5: 150,475,723 (GRCm39)	A2478T	probably damaging	Het
C1s1	C	T	6: 124,508,090 (GRCm39)	C633Y	probably damaging	Het
C8g	C	T	2: 25,390,228 (GRCm39)	A6T	probably benign	Het
Cbl	A	T	9: 44,065,541 (GRCm39)	V706E	probably benign	Het
Ccdc121rt3	C	T	5: 112,502,630 (GRCm39)	G358D	probably benign	Het
Cfhr1	C	T	1: 139,485,312 (GRCm39)	E45K	probably benign	Het
Chd7	G	A	4: 8,840,561 (GRCm39)		probably null	Het
Cntnap1	C	A	11: 101,071,186 (GRCm39)	F366L	probably damaging	Het
Corin	C	T	5: 72,460,133 (GRCm39)		probably null	Het
Crb2	T	C	2: 37,673,400 (GRCm39)	Y99H	probably damaging	Het
Ctdspl2	G	A	2: 121,834,410 (GRCm39)	R332K	probably benign	Het
Cym	G	A	3: 107,120,774 (GRCm39)	T277I	probably damaging	Het
Cyp2d11	C	T	15: 82,275,936 (GRCm39)	C215Y	probably benign	Het
Dido1	G	A	2: 180,304,121 (GRCm39)	P1261L	probably damaging	Het
Dnah10	T	A	5: 124,840,160 (GRCm39)	Y1265N	probably benign	Het
Dtx3l	G	A	16: 35,753,098 (GRCm39)	L503F	probably damaging	Het
Efhb	A	G	17: 53,744,206 (GRCm39)	F462L	probably damaging	Het
Enpep	T	A	3: 129,113,097 (GRCm39)	T203S	probably damaging	Het
Fat3	A	C	9: 16,286,778 (GRCm39)	V915G	probably damaging	Het
Fbln7	A	G	2: 128,719,349 (GRCm39)	T49A	probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgf14	T	A	14: 124,913,951 (GRCm39)	K60M	probably benign	Het
Galnt4	A	G	10: 98,944,571 (GRCm39)	R99G	probably benign	Het
Gimap4	C	A	6: 48,668,216 (GRCm39)	Q196K	probably benign	Het
Glcci1	C	T	6: 8,537,964 (GRCm39)	T6I	probably damaging	Het
Gm10110	A	T	14: 90,135,511 (GRCm39)		noncoding transcript	Het
Gm4884	A	G	7: 40,692,552 (GRCm39)	K174E	probably damaging	Het
Grip2	A	T	6: 91,765,424 (GRCm39)	D19E	probably damaging	Het
Grk4	T	C	5: 34,852,094 (GRCm39)	S113P	probably benign	Het
Hectd3	G	A	4: 116,853,763 (GRCm39)	E220K	probably damaging	Het
Helz2	G	A	2: 180,878,090 (GRCm39)	P903S	probably damaging	Het
Hydin	T	A	8: 111,259,585 (GRCm39)	V2519E	possibly damaging	Het
Ints11	G	A	4: 155,972,567 (GRCm39)		probably null	Het
Kif1a	A	G	1: 92,982,651 (GRCm39)	W718R	possibly damaging	Het
Kif1b	A	T	4: 149,307,709 (GRCm39)	Y839N	probably damaging	Het
Kif20b	T	A	19: 34,927,999 (GRCm39)	V1047D	probably benign	Het
Klhl23	T	C	2: 69,664,232 (GRCm39)	I527T	probably damaging	Het
Klra10	T	A	6: 130,256,278 (GRCm39)	R125S	probably damaging	Het
Klra10	T	C	6: 130,256,394 (GRCm39)	N87D	probably damaging	Het
Lars1	G	A	18: 42,343,115 (GRCm39)	R1101C	probably damaging	Het
Lcn4	G	A	2: 26,558,588 (GRCm39)	P166L	probably damaging	Het
Letmd1	T	A	15: 100,370,423 (GRCm39)		probably null	Het
Map4k2	G	T	19: 6,391,947 (GRCm39)	W87L	probably damaging	Het
Mccc1	A	G	3: 36,028,435 (GRCm39)	V457A	probably benign	Het
Mdn1	T	A	4: 32,730,788 (GRCm39)	S2886T	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mrpl24	T	A	3: 87,829,235 (GRCm39)	Y21*	probably null	Het
Mrps35	C	T	6: 146,957,482 (GRCm39)	T169M	probably damaging	Het
Mtcl1	T	A	17: 66,687,430 (GRCm39)	D492V	probably damaging	Het
Muc2	A	G	7: 141,302,711 (GRCm39)	Y457C	probably damaging	Het
Muc4	G	A	16: 32,574,886 (GRCm39)	G1157D	probably benign	Het
Myg1	T	A	15: 102,245,825 (GRCm39)	L275Q	probably damaging	Het
Naga	T	A	15: 82,218,989 (GRCm39)	M237L	probably null	Het
Oc90	T	A	15: 65,769,569 (GRCm39)	Y96F	probably damaging	Het
Or12d13	A	T	17: 37,647,847 (GRCm39)	L92H	probably benign	Het
Or13a18	A	G	7: 140,190,882 (GRCm39)	I268V	probably benign	Het
Or4a80	C	T	2: 89,582,611 (GRCm39)	C187Y	probably damaging	Het
Or5m11b	T	A	2: 85,806,339 (GRCm39)	F251I	probably damaging	Het
Or6ae1	A	G	7: 139,742,116 (GRCm39)	V249A	probably damaging	Het
Orc4	A	T	2: 48,799,506 (GRCm39)	C324S	possibly damaging	Het
Pcdh10	T	G	3: 45,334,409 (GRCm39)	L241R	probably damaging	Het
Pdzrn4	T	C	15: 92,668,418 (GRCm39)	S857P	probably benign	Het
Plec	C	T	15: 76,070,108 (GRCm39)	E1000K	possibly damaging	Het
Plvap	A	T	8: 71,961,125 (GRCm39)	V149D	probably benign	Het
Ppef1	C	A	X: 159,408,670 (GRCm39)		probably null	Het
Prkaa1	C	A	15: 5,208,279 (GRCm39)	P507T	probably benign	Het
Ptch1	A	G	13: 63,672,783 (GRCm39)	Y804H	probably benign	Het
R3hdm2	A	G	10: 127,312,559 (GRCm39)	I434V	probably benign	Het
Rfx5	T	A	3: 94,863,614 (GRCm39)	Y88N	probably damaging	Het
Rnase2b	A	T	14: 51,400,296 (GRCm39)	K126*	probably null	Het
Rpl3l	A	G	17: 24,949,845 (GRCm39)	I15V	probably benign	Het
Saal1	G	T	7: 46,351,969 (GRCm39)		probably null	Het
Sbpl	A	C	17: 24,172,228 (GRCm39)	D230E	unknown	Het
Scn10a	T	C	9: 119,495,556 (GRCm39)	Y322C	probably damaging	Het
Sec16a	A	T	2: 26,321,169 (GRCm39)	Y1308N	probably damaging	Het
Sis	A	T	3: 72,839,393 (GRCm39)	D824E	possibly damaging	Het
Slc25a36	A	G	9: 96,962,408 (GRCm39)	F194L	probably damaging	Het
Slc27a4	T	A	2: 29,701,202 (GRCm39)	V331E	probably damaging	Het
Slc7a11	G	T	3: 50,335,522 (GRCm39)		probably null	Het
Slco4c1	A	T	1: 96,768,897 (GRCm39)	S322T	probably damaging	Het
Smarcc2	A	T	10: 128,310,114 (GRCm39)	T376S	probably damaging	Het
Srebf1	C	T	11: 60,091,528 (GRCm39)	R999H	probably benign	Het
St3gal3	A	C	4: 117,964,859 (GRCm39)	M1R	probably null	Het
Syp	A	T	X: 7,514,944 (GRCm39)		probably benign	Het
Tas1r2	A	G	4: 139,396,722 (GRCm39)	D687G	probably damaging	Het
Tekt4	A	T	17: 25,691,048 (GRCm39)	Q118L	probably benign	Het
Thoc2l	T	A	5: 104,666,123 (GRCm39)	I215N	probably damaging	Het
Tph2	T	C	10: 114,915,600 (GRCm39)	N480S	probably benign	Het
Tsc2	A	T	17: 24,827,947 (GRCm39)	M839K	probably damaging	Het
Ttc22	T	C	4: 106,479,977 (GRCm39)	F77S	probably damaging	Het
Uaca	C	T	9: 60,761,603 (GRCm39)	A205V	possibly damaging	Het
Uhmk1	A	T	1: 170,036,222 (GRCm39)		probably null	Het
Usp17lc	A	G	7: 103,068,148 (GRCm39)	H481R	possibly damaging	Het
Vwa3a	A	G	7: 120,367,388 (GRCm39)	Y181C	probably damaging	Het
Wfikkn2	G	A	11: 94,129,721 (GRCm39)	T140I	probably damaging	Het
Zfp704	G	T	3: 9,512,408 (GRCm39)	T288N	possibly damaging	Het
Zfp93	T	C	7: 23,975,521 (GRCm39)	V502A	probably damaging	Het
Zzef1	C	T	11: 72,815,505 (GRCm39)	P2942S	probably damaging	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
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
R5819:Chek1	UTSW	9	36,621,701 (GRCm39)	missense	probably benign	0.01
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'- GGCCTAATGATCCCTCCAAACCTTC -3'
(R):5'- CCGAAAGCTCTTGTCTTGCAACCC -3'

Sequencing Primer
(F):5'- accagctcctgcaagttgtc -3'
(R):5'- CTCAGTTTTGCATAAAGGCGGAC -3'

Posted On

2014-03-28