Mutagenetix > Incidental Mutation

Incidental Mutation 'R9520:Chek1'

718823

Institutional Source

Beutler Lab

Gene Symbol

Chek1

Ensembl Gene

ENSMUSG00000032113

Gene Name

checkpoint kinase 1

Synonyms

Chk1

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9520 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

36619935-36637897 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 36625121 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 320 (E320G)

Ref Sequence

ENSEMBL: ENSMUSP00000034625 (fasta)

Gene Model

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

AlphaFold

O35280

Predicted Effect

probably benign
Transcript: ENSMUST00000034625
AA Change: E320G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000034625
Gene: ENSMUSG00000032113
AA Change: E320G

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: E320G

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000134388
Gene: ENSMUSG00000032113
AA Change: E320G

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: ENSMUST00000173963
AA Change: E320G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134029
Gene: ENSMUSG00000032113
AA Change: E320G

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,228,176 (GRCm39)	T22A	possibly damaging	Het
Ackr3	T	A	1: 90,141,971 (GRCm39)	Y143*	probably null	Het
Actn1	A	T	12: 80,240,417 (GRCm39)	D223E	probably damaging	Het
Apcdd1	C	T	18: 63,083,190 (GRCm39)	T340I	possibly damaging	Het
B4galnt1	G	A	10: 127,006,580 (GRCm39)	E375K	probably damaging	Het
Cacna1b	A	T	2: 24,651,799 (GRCm39)	S127T	probably damaging	Het
Cbr3	A	G	16: 93,487,318 (GRCm39)	D167G	probably benign	Het
Cdcp1	A	T	9: 123,012,736 (GRCm39)	N270K	possibly damaging	Het
Cep131	A	G	11: 119,968,157 (GRCm39)	V128A	probably benign	Het
Cfhr4	A	G	1: 139,682,135 (GRCm39)	S154P	probably damaging	Het
Cit	T	A	5: 116,079,954 (GRCm39)	L755*	probably null	Het
Clstn2	A	T	9: 97,414,763 (GRCm39)	L377Q	probably damaging	Het
Cpne9	A	T	6: 113,281,413 (GRCm39)	D498V	probably damaging	Het
Csad	A	G	15: 102,097,102 (GRCm39)	M1T	probably null	Het
Csmd3	A	G	15: 47,561,608 (GRCm39)	F1323L		Het
Dennd2c	A	T	3: 103,044,484 (GRCm39)	Q355L	probably benign	Het
Fbxw10	G	A	11: 62,750,842 (GRCm39)	S475N	possibly damaging	Het
Foxi3	A	G	6: 70,937,676 (GRCm39)	S303G	probably damaging	Het
Glra1	G	C	11: 55,405,897 (GRCm39)	F372L	probably benign	Het
Gm19410	A	G	8: 36,262,637 (GRCm39)	E858G	probably benign	Het
Gm7168	T	A	17: 14,169,506 (GRCm39)	V291D	probably benign	Het
Gpr15lg	T	A	14: 36,829,343 (GRCm39)	T47S	possibly damaging	Het
Grin2b	T	C	6: 135,710,399 (GRCm39)	Y1049C	probably damaging	Het
Grm2	A	G	9: 106,525,230 (GRCm39)	L24P		Het
Guca1a	T	A	17: 47,711,335 (GRCm39)	I4F	probably benign	Het
H6pd	T	C	4: 150,080,375 (GRCm39)	I157V	possibly damaging	Het
Hectd3	T	A	4: 116,857,882 (GRCm39)	M605K	probably damaging	Het
Hsf2	T	A	10: 57,371,996 (GRCm39)	N32K	probably damaging	Het
Hspa1l	T	A	17: 35,196,972 (GRCm39)	V337D	probably damaging	Het
Iigp1	A	T	18: 60,523,451 (GRCm39)	T190S	probably benign	Het
Iqgap1	T	C	7: 80,393,869 (GRCm39)	R622G	probably benign	Het
Lce1a1	A	T	3: 92,554,109 (GRCm39)	C122S	unknown	Het
Lrfn4	C	T	19: 4,664,237 (GRCm39)	R99H	probably damaging	Het
Lsm1	T	A	8: 26,283,744 (GRCm39)	V52E	possibly damaging	Het
Malrd1	G	A	2: 16,079,631 (GRCm39)	V1783I	unknown	Het
Mast4	T	C	13: 102,925,532 (GRCm39)	K464R	probably damaging	Het
Mpdz	T	C	4: 81,304,555 (GRCm39)	D115G	probably benign	Het
Mtmr3	A	T	11: 4,441,131 (GRCm39)	H507Q	probably damaging	Het
Mycbp2	T	A	14: 103,497,705 (GRCm39)	M956L	probably benign	Het
Myo3b	A	G	2: 70,062,753 (GRCm39)	T346A	possibly damaging	Het
Ndrg2	T	C	14: 52,146,381 (GRCm39)	I140V	probably benign	Het
Nsf	A	G	11: 103,804,709 (GRCm39)	L144P	probably damaging	Het
Or2a25	T	C	6: 42,889,051 (GRCm39)	V198A	probably damaging	Het
Or8d2b	C	T	9: 38,789,039 (GRCm39)	T189I	probably benign	Het
Pck1	G	A	2: 172,997,854 (GRCm39)	V308M	probably damaging	Het
Phip	C	T	9: 82,753,437 (GRCm39)	R1769K	possibly damaging	Het
Plekhg1	T	A	10: 3,906,822 (GRCm39)	C635S		Het
Ppp4r4	A	G	12: 103,500,378 (GRCm39)	I58V	probably benign	Het
Prkacb	T	C	3: 146,456,289 (GRCm39)	Y170C	probably damaging	Het
Rnf145	A	T	11: 44,452,336 (GRCm39)	E438D	possibly damaging	Het
Rnf207	T	C	4: 152,396,234 (GRCm39)	Y510C	probably damaging	Het
Rph3a	C	T	5: 121,101,903 (GRCm39)	C111Y	probably damaging	Het
Scaf8	C	T	17: 3,248,285 (GRCm39)	R1203W	probably damaging	Het
Sec23a	T	G	12: 59,031,974 (GRCm39)	I448L	probably benign	Het
Slc22a27	T	C	19: 7,843,227 (GRCm39)	Y492C	possibly damaging	Het
Supv3l1	T	C	10: 62,268,181 (GRCm39)	K555E	probably damaging	Het
Tdrd3	T	C	14: 87,724,696 (GRCm39)	S372P	probably damaging	Het
Tgm1	A	G	14: 55,942,296 (GRCm39)	F685S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn2r11	T	C	5: 109,201,455 (GRCm39)	T350A	probably benign	Het
Vmn2r25	A	T	6: 123,830,066 (GRCm39)	Y28*	probably null	Het
Vmn2r85	T	A	10: 130,254,993 (GRCm39)	I564L	probably benign	Het
Wdr26	G	T	1: 181,036,587 (GRCm39)	T183K	probably benign	Het
Yjefn3	A	T	8: 70,341,969 (GRCm39)	Y97N	probably damaging	Het
Zbtb38	A	T	9: 96,568,104 (GRCm39)	D993E	probably damaging	Het
Zbtb45	T	C	7: 12,742,012 (GRCm39)	Q82R	probably damaging	Het
Zdhhc8	A	G	16: 18,045,044 (GRCm39)	V254A	probably benign	Het
Zfp648	A	G	1: 154,081,221 (GRCm39)	D460G	probably benign	Het
Zfp760	T	G	17: 21,941,036 (GRCm39)	N70K	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
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

Predicted Primers

PCR Primer
(F):5'- TGACCAGTTTACAGCAATTAGTCTG -3'
(R):5'- TGTGTGATATAAGAAAATCCTGGTAGG -3'

Sequencing Primer
(F):5'- TGAAATTCTCTTCTTTAGCTTAGGC -3'
(R):5'- GTAACTGCTAATTGGAAGGCTG -3'

Posted On

2022-07-18