Mutagenetix > Incidental Mutation

Incidental Mutation 'R5154:Cdk1'

396588

Institutional Source

Beutler Lab

Gene Symbol

Cdk1

Ensembl Gene

ENSMUSG00000019942

Gene Name

cyclin dependent kinase 1

Synonyms

Cdc2, Cdc2a, p34

MMRRC Submission

042736-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

69170976-69188742 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 69176298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119085 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020099] [ENSMUST00000020099] [ENSMUST00000020099] [ENSMUST00000119827] [ENSMUST00000119827] [ENSMUST00000119827] [ENSMUST00000152448]

AlphaFold

P11440

Predicted Effect

probably benign
Transcript: ENSMUST00000020099

SMART Domains

Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
S_TKc	4	287	7.87e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020099

SMART Domains

Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
S_TKc	4	287	7.87e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000020099

SMART Domains

Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
S_TKc	4	287	7.87e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119827

SMART Domains

Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
S_TKc	4	287	7.87e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119827

SMART Domains

Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
S_TKc	4	287	7.87e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000119827

SMART Domains

Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
S_TKc	4	287	7.87e-104	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124054

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149474

Predicted Effect

probably benign
Transcript: ENSMUST00000152448

SMART Domains

Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942

Domain	Start	End	E-Value	Type
Pfam:Pkinase	4	200	8.7e-65	PFAM
Pfam:Pkinase_Tyr	5	200	6.9e-35	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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 is a member of the Ser/Thr protein kinase family. This protein is a catalytic subunit of the highly conserved protein kinase complex known as M-phase promoting factor (MPF), which is essential for G1/S and G2/M phase transitions of eukaryotic cell cycle. Mitotic cyclins stably associate with this protein and function as regulatory subunits. The kinase activity of this protein is controlled by cyclin accumulation and destruction through the cell cycle. The phosphorylation and dephosphorylation of this protein also play important regulatory roles in cell cycle control. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a null allele die prior to E1.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	A	C	4: 39,450,938 (GRCm39)	H48P	probably damaging	Het
Angptl7	C	T	4: 148,581,882 (GRCm39)	R168H	probably damaging	Het
Ankrd11	A	C	8: 123,619,878 (GRCm39)	F1325V	probably damaging	Het
Ankrd13c	A	G	3: 157,694,297 (GRCm39)	D266G	possibly damaging	Het
Apold1	A	T	6: 134,960,636 (GRCm39)	H30L	possibly damaging	Het
Arel1	A	G	12: 84,978,547 (GRCm39)	F362L	probably benign	Het
Arhgef4	T	A	1: 34,771,455 (GRCm39)	M1254K	probably benign	Het
Arid2	T	A	15: 96,299,866 (GRCm39)	V1793E	probably damaging	Het
Bcl7a	T	C	5: 123,507,422 (GRCm39)	S156P	probably damaging	Het
Cbr3	A	G	16: 93,482,027 (GRCm39)	I128V	probably benign	Het
Cct6b	G	A	11: 82,630,521 (GRCm39)	P299L	probably damaging	Het
Cd180	A	T	13: 102,842,282 (GRCm39)	N443Y	probably damaging	Het
Cd80	A	G	16: 38,294,342 (GRCm39)	K75R	probably benign	Het
Cep192	T	A	18: 67,983,755 (GRCm39)	F1565I	probably damaging	Het
Chtf18	T	C	17: 25,942,694 (GRCm39)	T412A	probably damaging	Het
Cit	T	C	5: 116,126,464 (GRCm39)	L1590P	probably damaging	Het
Clcn2	T	A	16: 20,522,053 (GRCm39)	R845S	probably benign	Het
Cndp2	C	T	18: 84,686,727 (GRCm39)	V432I	probably benign	Het
Cnnm2	A	T	19: 46,751,571 (GRCm39)	R454W	probably benign	Het
Cpne8	T	G	15: 90,384,121 (GRCm39)	I480L	probably benign	Het
Cr2	A	G	1: 194,841,754 (GRCm39)	W400R	probably damaging	Het
Cul5	A	G	9: 53,537,167 (GRCm39)	L528P	probably damaging	Het
Dlgap5	C	T	14: 47,651,177 (GRCm39)	V119M	probably damaging	Het
Dnah12	T	C	14: 26,571,320 (GRCm39)	S190P	probably benign	Het
Dnah3	T	A	7: 119,551,642 (GRCm39)	K2881N	probably damaging	Het
Dnmt3a	A	T	12: 3,946,008 (GRCm39)	I288F	probably damaging	Het
Dse	T	A	10: 34,029,657 (GRCm39)	T478S	possibly damaging	Het
Edn1	C	T	13: 42,458,499 (GRCm39)	T104I	probably benign	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Eprs1	A	G	1: 185,145,662 (GRCm39)	H1157R	probably damaging	Het
Fam168b	G	A	1: 34,857,180 (GRCm39)	T179I	possibly damaging	Het
Fzd5	A	G	1: 64,775,131 (GRCm39)	V210A	probably benign	Het
Gm9742	T	C	13: 8,085,081 (GRCm39)		noncoding transcript	Het
Gpc1	G	A	1: 92,784,751 (GRCm39)	G308D	probably damaging	Het
Gpr141	C	T	13: 19,936,412 (GRCm39)	R121K	probably benign	Het
Greb1l	A	G	18: 10,458,312 (GRCm39)	T30A	probably benign	Het
Grk3	A	T	5: 113,089,583 (GRCm39)	I281N	probably damaging	Het
Hnrnpdl	A	T	5: 100,184,371 (GRCm39)	Y289*	probably null	Het
Hsf2	T	G	10: 57,380,808 (GRCm39)	V214G	probably benign	Het
Igf2bp1	G	A	11: 95,854,373 (GRCm39)	Q563*	probably null	Het
Il31ra	T	A	13: 112,660,531 (GRCm39)	D605V	possibly damaging	Het
Insm2	G	A	12: 55,646,982 (GRCm39)	C242Y	probably damaging	Het
Ints3	C	T	3: 90,322,868 (GRCm39)	V121I	probably benign	Het
Kcnt2	A	T	1: 140,278,994 (GRCm39)	L48F	possibly damaging	Het
Kit	G	A	5: 75,801,200 (GRCm39)	V529M	probably damaging	Het
Mark2	G	A	19: 7,260,439 (GRCm39)	P13S	probably damaging	Het
Mthfsd	A	G	8: 121,825,479 (GRCm39)	V364A	probably damaging	Het
Mtmr11	C	G	3: 96,071,636 (GRCm39)	S185R	probably benign	Het
Myot	A	G	18: 44,487,281 (GRCm39)	I373V	probably benign	Het
N4bp3	A	T	11: 51,536,139 (GRCm39)	V231D	probably benign	Het
Or5t17	T	C	2: 86,832,382 (GRCm39)	V23A	probably benign	Het
Or8k39	A	T	2: 86,563,121 (GRCm39)	Y278*	probably null	Het
Pdcd6ip	A	G	9: 113,520,610 (GRCm39)	F125L	probably damaging	Het
Prpf39	A	T	12: 65,095,051 (GRCm39)	Q124L	probably benign	Het
Reln	A	T	5: 22,193,763 (GRCm39)	N1398K	probably damaging	Het
Rhod	A	T	19: 4,482,122 (GRCm39)	D97E	probably damaging	Het
Rxra	T	C	2: 27,647,880 (GRCm39)		probably null	Het
Slc1a3	T	C	15: 8,672,433 (GRCm39)	I349V	probably benign	Het
Slc37a2	A	T	9: 37,142,939 (GRCm39)	*502R	probably null	Het
Slc9b1	T	C	3: 135,078,940 (GRCm39)	I199T	probably damaging	Het
Spart	C	T	3: 55,024,750 (GRCm39)	P115L	probably damaging	Het
Tnpo1	A	T	13: 99,006,813 (GRCm39)	C205S	possibly damaging	Het
Tubb1	T	A	2: 174,298,657 (GRCm39)	I113N	probably benign	Het
Tyrp1	G	A	4: 80,768,954 (GRCm39)	V483I	probably benign	Het
Vwde	T	C	6: 13,215,757 (GRCm39)	S100G	probably benign	Het
Zfhx3	A	T	8: 109,527,207 (GRCm39)	I1035F	probably damaging	Het
Zfp618	G	T	4: 63,051,446 (GRCm39)	K742N	probably damaging	Het
Zfp873	T	C	10: 81,896,025 (GRCm39)	V252A	possibly damaging	Het

Other mutations in Cdk1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Cdk1	APN	10	69,176,331 (GRCm39)	missense	probably benign
IGL02875:Cdk1	APN	10	69,178,366 (GRCm39)	splice site	probably benign
IGL03295:Cdk1	APN	10	69,178,373 (GRCm39)	missense	possibly damaging	0.88
R0064:Cdk1	UTSW	10	69,180,907 (GRCm39)	missense	probably benign	0.34
R0064:Cdk1	UTSW	10	69,180,907 (GRCm39)	missense	probably benign	0.34
R0413:Cdk1	UTSW	10	69,180,929 (GRCm39)	missense	probably benign	0.00
R1635:Cdk1	UTSW	10	69,174,377 (GRCm39)	missense	probably damaging	1.00
R4173:Cdk1	UTSW	10	69,180,991 (GRCm39)	missense	probably benign	0.19
R6847:Cdk1	UTSW	10	69,174,358 (GRCm39)	missense	probably benign
R8222:Cdk1	UTSW	10	69,176,426 (GRCm39)	missense	probably benign	0.00
R8755:Cdk1	UTSW	10	69,176,435 (GRCm39)	missense	probably benign	0.02
R9681:Cdk1	UTSW	10	69,178,449 (GRCm39)	missense	possibly damaging	0.89
RF023:Cdk1	UTSW	10	69,176,328 (GRCm39)	missense	possibly damaging	0.69

Predicted Primers

PCR Primer
(F):5'- AGAAGGTGTGTGAGTCCAGC -3'
(R):5'- GCTTCCTTTCAGAGCTCTGG -3'

Sequencing Primer
(F):5'- CTCTCCTACCGGATGAGAAGTAAATG -3'
(R):5'- GGCACTCCTAACAACGAAGTGTG -3'

Posted On

2016-06-21