Mutagenetix > Incidental Mutation

Incidental Mutation 'R8787:Chek1'

670711

Institutional Source

Beutler Lab

Gene Symbol

Chek1

Ensembl Gene

ENSMUSG00000032113

Gene Name

checkpoint kinase 1

Synonyms

Chk1

MMRRC Submission

068633-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36619935-36637897 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 36625033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 349 (C349*)

Ref Sequence

ENSEMBL: ENSMUSP00000034625 (fasta)

Gene Model

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

AlphaFold

O35280

Predicted Effect

probably null
Transcript: ENSMUST00000034625
AA Change: C349*

SMART Domains

Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: C349*

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 null
Transcript: ENSMUST00000172702
AA Change: C349*

SMART Domains

Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: C349*

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 null
Transcript: ENSMUST00000173963
AA Change: C349*

SMART Domains

Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: C349*

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	C	T	11: 9,225,053 (GRCm39)	H511Y	possibly damaging	Het
Acp5	G	A	9: 22,038,489 (GRCm39)	R271*	probably null	Het
Adamts20	A	T	15: 94,184,294 (GRCm39)	V1503E	possibly damaging	Het
Adra2b	A	T	2: 127,206,417 (GRCm39)	E311D	probably benign	Het
Aldh18a1	T	C	19: 40,546,230 (GRCm39)	I556V	possibly damaging	Het
Alox12	C	A	11: 70,144,146 (GRCm39)	A116S	probably benign	Het
Alox5	G	T	6: 116,390,102 (GRCm39)	A552E	probably damaging	Het
Angpt1	G	T	15: 42,375,780 (GRCm39)	L159I	probably damaging	Het
Atp2b4	CTT	CTTTTT	1: 133,629,485 (GRCm39)		probably benign	Het
Bub1b	T	A	2: 118,462,305 (GRCm39)	L726I	probably damaging	Het
Ccdc78	A	T	17: 26,006,807 (GRCm39)	T165S	probably benign	Het
Ccdc88b	T	C	19: 6,824,791 (GRCm39)	D1323G	probably damaging	Het
Clec1a	A	T	6: 129,428,617 (GRCm39)	L21Q	possibly damaging	Het
Col1a1	T	C	11: 94,833,634 (GRCm39)	V445A	possibly damaging	Het
Efcab7	A	G	4: 99,757,791 (GRCm39)	T313A	probably null	Het
Fads1	T	A	19: 10,170,325 (GRCm39)	Y288*	probably null	Het
Fgb	T	A	3: 82,953,969 (GRCm39)	T90S	probably benign	Het
Glg1	C	A	8: 111,888,114 (GRCm39)	V1026L	probably damaging	Het
Hadh	T	A	3: 131,027,825 (GRCm39)	Y313F	probably damaging	Het
Htr4	A	G	18: 62,570,853 (GRCm39)	I303V	possibly damaging	Het
Kcnn3	A	G	3: 89,552,757 (GRCm39)	D487G	possibly damaging	Het
L1td1	G	A	4: 98,625,814 (GRCm39)	V604I	probably benign	Het
Lao1	A	G	4: 118,825,565 (GRCm39)	T462A	probably damaging	Het
Lefty1	C	A	1: 180,764,118 (GRCm39)	A86E	probably damaging	Het
Lmx1b	T	C	2: 33,529,522 (GRCm39)	Y79C		Het
Lrp2	A	G	2: 69,382,745 (GRCm39)	C47R	probably damaging	Het
Mrc2	A	T	11: 105,238,465 (GRCm39)	N1204I	probably benign	Het
Ncf1	A	C	5: 134,254,145 (GRCm39)	Y209*	probably null	Het
Or14j7	T	A	17: 38,235,075 (GRCm39)	M206K	probably benign	Het
Or2ad1	A	T	13: 21,326,453 (GRCm39)	M258K	possibly damaging	Het
Or8k33	G	A	2: 86,384,297 (GRCm39)	T57M	probably damaging	Het
Oxtr	T	G	6: 112,466,871 (GRCm39)		probably benign	Het
Pcdhac1	T	C	18: 37,224,942 (GRCm39)	V585A	probably damaging	Het
Pdcd11	T	G	19: 47,097,019 (GRCm39)	L755R	probably damaging	Het
Pkhd1	A	G	1: 20,358,461 (GRCm39)	V2705A	probably damaging	Het
Plch2	C	A	4: 155,070,875 (GRCm39)	G1168V	probably benign	Het
Prpf39	T	C	12: 65,089,555 (GRCm39)	Y98H	possibly damaging	Het
R3hdm2	T	G	10: 127,293,521 (GRCm39)	S142A	probably damaging	Het
Rassf10	T	A	7: 112,554,738 (GRCm39)	D446E	probably benign	Het
Rgs13	T	C	1: 144,016,482 (GRCm39)	Y87C	probably damaging	Het
Serpinb9h	G	A	13: 33,588,204 (GRCm39)	R263H	probably benign	Het
Smpd3	G	A	8: 106,982,377 (GRCm39)	R576C	probably damaging	Het
Spata31e1	T	C	13: 49,938,704 (GRCm39)	Y1002C	probably damaging	Het
Srsf11	A	T	3: 157,718,037 (GRCm39)	D382E	unknown	Het
Stpg1	T	A	4: 135,261,108 (GRCm39)	M306K	probably benign	Het
Svil	C	T	18: 5,059,332 (GRCm39)	Q696*	probably null	Het
Syna	C	T	5: 134,588,723 (GRCm39)	M75I	probably benign	Het
Synj2	T	C	17: 6,036,514 (GRCm39)	F161S	possibly damaging	Het
Tek	T	C	4: 94,738,037 (GRCm39)	Y696H	probably damaging	Het
Tgfbr1	A	T	4: 47,405,555 (GRCm39)	D386V	possibly damaging	Het
Tgm4	G	T	9: 122,890,910 (GRCm39)	G503V	probably damaging	Het
Tnni3k	T	C	3: 154,645,691 (GRCm39)	E461G	probably damaging	Het
Tom1l1	A	T	11: 90,561,931 (GRCm39)	H232Q	probably benign	Het
Ubqln5	T	C	7: 103,778,329 (GRCm39)	N165S	probably benign	Het
Vmn1r24	G	A	6: 57,932,958 (GRCm39)	L187F	probably benign	Het
Vmn2r82	C	T	10: 79,213,894 (GRCm39)	T160I	probably damaging	Het
Vmn2r96	G	T	17: 18,818,250 (GRCm39)	G801V	probably damaging	Het
Vps39	A	G	2: 120,172,506 (GRCm39)	S176P	probably damaging	Het
Vsig10	C	A	5: 117,472,981 (GRCm39)	H191Q	probably benign	Het
Wtap	G	A	17: 13,186,488 (GRCm39)	S353L	possibly damaging	Het
Zmym4	T	G	4: 126,816,953 (GRCm39)	R248S	probably benign	Het
Zscan10	A	G	17: 23,829,011 (GRCm39)	S518G	probably benign	Het
Zscan29	A	T	2: 120,996,876 (GRCm39)	Y282N	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
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
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'- ATCCAGTGTGACCAGTTTACAGC -3'
(R):5'- AACAGAGACTTGAAGCCATTCT -3'

Sequencing Primer
(F):5'- GTGACCAGTTTACAGCAATTAGTCTG -3'
(R):5'- AGAGACTTGAAGCCATTCTTTTCTTC -3'

Posted On

2021-04-30