Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:Chek1'

234630

Institutional Source

Beutler Lab

Gene Symbol

Chek1

Ensembl Gene

ENSMUSG00000032113

Gene Name

checkpoint kinase 1

Synonyms

Chk1

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36619935-36637897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 36635279 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 35 (V35F)

Ref Sequence

ENSEMBL: ENSMUSP00000134029 (fasta)

Gene Model

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

AlphaFold

O35280

Predicted Effect

probably damaging
Transcript: ENSMUST00000034625
AA Change: V35F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: V35F

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 damaging
Transcript: ENSMUST00000172702
AA Change: V35F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: V35F

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 damaging
Transcript: ENSMUST00000172742
AA Change: V35F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000133589
Gene: ENSMUSG00000032113
AA Change: V35F

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

probably damaging
Transcript: ENSMUST00000173534
AA Change: V35F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134013
Gene: ENSMUSG00000032113
AA Change: V35F

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: V35F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: V35F

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: ENSMUST00000173977

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174794

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	G	8: 73,208,959 (GRCm39)	E363G	probably benign	Het
Abca3	A	G	17: 24,596,693 (GRCm39)	Y382C	probably damaging	Het
Abca5	A	G	11: 110,183,000 (GRCm39)	I1019T	probably benign	Het
Acox3	A	T	5: 35,762,568 (GRCm39)	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Aqr	A	C	2: 113,967,485 (GRCm39)	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,029,369 (GRCm39)	T56S	probably benign	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Aspg	A	G	12: 112,087,408 (GRCm39)	E288G	probably benign	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,267,092 (GRCm39)	L205P	probably damaging	Het
Cant1	A	G	11: 118,302,263 (GRCm39)	L18P	probably damaging	Het
Cdca2	G	A	14: 67,914,425 (GRCm39)	P945S	probably damaging	Het
Cfap74	A	G	4: 155,513,753 (GRCm39)	K522E	possibly damaging	Het
Cpa6	A	T	1: 10,407,547 (GRCm39)	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,145,792 (GRCm39)	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,022,819 (GRCm39)	V319D	probably damaging	Het
Dapk1	T	A	13: 60,877,317 (GRCm39)	S519T	probably benign	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dock4	T	A	12: 40,870,661 (GRCm39)	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,894,547 (GRCm39)		probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Ercc6l2	T	C	13: 64,013,821 (GRCm39)	S631P	probably damaging	Het
Fat4	A	T	3: 38,941,688 (GRCm39)	S194C	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gdf10	T	C	14: 33,656,346 (GRCm39)	I436T	probably damaging	Het
Gfod1	T	C	13: 43,456,946 (GRCm39)	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,018,458 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,138,873 (GRCm39)	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,376,475 (GRCm39)	K211*	probably null	Het
Itgam	A	C	7: 127,684,749 (GRCm39)	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,089,107 (GRCm39)	F484S	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kif16b	T	C	2: 142,532,500 (GRCm39)	K1213R	probably damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,228,797 (GRCm39)	K38E	possibly damaging	Het
Myh14	A	C	7: 44,301,853 (GRCm39)		probably null	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,307,240 (GRCm39)	T562A	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Pds5a	A	T	5: 65,807,841 (GRCm39)	V464E	probably damaging	Het
Peak1	C	T	9: 56,114,496 (GRCm39)	V452M	probably damaging	Het
Phf2	T	C	13: 48,973,549 (GRCm39)	Y372C	unknown	Het
Poc1a	T	A	9: 106,162,773 (GRCm39)		probably null	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psmc2	C	G	5: 22,008,127 (GRCm39)	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,365,453 (GRCm39)	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,721 (GRCm39)	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945 (GRCm39)	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,516,574 (GRCm39)	D1266E	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,037,753 (GRCm39)	K125R	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Smg1	A	T	7: 117,757,299 (GRCm39)		probably benign	Het
Spinkl	A	T	18: 44,302,194 (GRCm39)	N32K	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmco6	T	C	18: 36,874,740 (GRCm39)	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235 (GRCm39)	T198A	probably damaging	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,910,965 (GRCm39)	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,805 (GRCm39)	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,212,923 (GRCm39)	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yme1l1	T	C	2: 23,052,520 (GRCm39)	L58P	probably damaging	Het
Zan	G	A	5: 137,412,511 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,466,801 (GRCm39)	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly 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
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
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'- AAAGTTCTCCTCCACTACAGTACTC -3'
(R):5'- TGCTTCTCAGAGACACCTCC -3'

Sequencing Primer
(F):5'- CTCCAGAAACAGATACTGGATATGGC -3'
(R):5'- CCCGCTGCTAGGGTTTTGC -3'

Posted On

2014-10-01