Mutagenetix > Incidental Mutation

Incidental Mutation 'R0064:Cdk1'

34413

Institutional Source

Beutler Lab

Gene Symbol

Cdk1

Ensembl Gene

ENSMUSG00000019942

Gene Name

cyclin dependent kinase 1

Synonyms

Cdc2, Cdc2a, p34

MMRRC Submission

038356-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0064 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

69170976-69188742 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 69180907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 101 (D101G)

Ref Sequence

ENSEMBL: ENSMUSP00000119085 (fasta)

Gene Model

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

AlphaFold

P11440

Predicted Effect

probably benign
Transcript: ENSMUST00000020099
AA Change: D101G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000020099
Gene: ENSMUSG00000019942
AA Change: D101G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000119827
AA Change: D101G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000113184
Gene: ENSMUSG00000019942
AA Change: D101G

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
AA Change: D101G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119085
Gene: ENSMUSG00000019942
AA Change: D101G

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

Meta Mutation Damage Score

0.1679

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (55/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	G	T	11: 110,035,698 (GRCm39)	L641M	probably damaging	Het
Abca9	A	C	11: 110,035,697 (GRCm39)	L641R	probably damaging	Het
Abhd18	A	G	3: 40,888,288 (GRCm39)	I377M	probably benign	Het
Arhgef17	C	A	7: 100,530,561 (GRCm39)	M1408I	probably benign	Het
Bcl2a1a	G	C	9: 88,839,516 (GRCm39)	G138A	probably damaging	Het
C4b	A	G	17: 34,957,830 (GRCm39)	L617P	probably damaging	Het
Ccdc25	T	A	14: 66,091,561 (GRCm39)	I60K	possibly damaging	Het
Cdon	A	G	9: 35,400,523 (GRCm39)	H1079R	probably benign	Het
Cep126	A	T	9: 8,130,183 (GRCm39)		probably benign	Het
Cic	T	A	7: 24,986,565 (GRCm39)	S1299T	probably damaging	Het
Cic	C	A	7: 24,986,566 (GRCm39)	S1299Y	probably damaging	Het
Clstn1	G	A	4: 149,719,253 (GRCm39)	V361M	probably damaging	Het
Crlf3	A	G	11: 79,948,728 (GRCm39)	I239T	possibly damaging	Het
Cstf2t	T	A	19: 31,060,699 (GRCm39)	N78K	probably damaging	Het
Cul1	A	G	6: 47,479,349 (GRCm39)		probably benign	Het
D430041D05Rik	T	G	2: 104,079,502 (GRCm39)	T1194P	probably damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fbxw14	A	T	9: 109,116,660 (GRCm39)	Y16*	probably null	Het
Fgd3	T	G	13: 49,449,901 (GRCm39)	D116A	possibly damaging	Het
Gm7168	C	T	17: 14,170,121 (GRCm39)	T496I	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Klhl5	T	A	5: 65,298,631 (GRCm39)	S137T	probably benign	Het
Knl1	T	A	2: 118,906,724 (GRCm39)	N1604K	probably benign	Het
Lpcat1	T	A	13: 73,662,585 (GRCm39)	N463K	probably damaging	Het
Lpl	A	G	8: 69,345,356 (GRCm39)	H120R	probably damaging	Het
Man1a2	A	T	3: 100,499,199 (GRCm39)	S412T	possibly damaging	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Myo18a	G	T	11: 77,738,170 (GRCm39)	R1704L	probably damaging	Het
Nlrc3	G	T	16: 3,781,951 (GRCm39)	T486K	possibly damaging	Het
Nrip1	T	A	16: 76,091,558 (GRCm39)		probably benign	Het
Nutf2	A	G	8: 106,605,441 (GRCm39)	D92G	probably damaging	Het
Obscn	A	C	11: 58,918,292 (GRCm39)	V6260G	probably damaging	Het
Or10a2	T	C	7: 106,673,487 (GRCm39)	F151L	probably benign	Het
Or2ak7	G	A	11: 58,575,301 (GRCm39)	V201M	probably benign	Het
Plce1	T	C	19: 38,769,228 (GRCm39)		probably null	Het
Pmpca	C	A	2: 26,285,519 (GRCm39)	D498E	probably benign	Het
Pnpla7	G	T	2: 24,887,239 (GRCm39)	E28*	probably null	Het
Polg	C	A	7: 79,111,632 (GRCm39)	W206C	probably damaging	Het
Ptprt	C	T	2: 161,769,711 (GRCm39)		probably benign	Het
Slc7a14	T	C	3: 31,281,209 (GRCm39)	D367G	probably damaging	Het
Spata31	T	C	13: 65,069,912 (GRCm39)	Y687H	probably damaging	Het
Sybu	T	A	15: 44,536,389 (GRCm39)	T646S	probably benign	Het
Thbs1	A	T	2: 117,954,395 (GRCm39)		probably null	Het
Tie1	A	G	4: 118,346,898 (GRCm39)	V2A	possibly damaging	Het
Tma16	A	T	8: 66,929,457 (GRCm39)	I179K	possibly damaging	Het
Tns3	G	A	11: 8,385,856 (GRCm39)	Q1381*	probably null	Het
Trank1	A	G	9: 111,172,263 (GRCm39)	D84G	probably damaging	Het
Ttc3	A	T	16: 94,223,106 (GRCm39)	H197L	possibly damaging	Het
Urb1	A	G	16: 90,576,028 (GRCm39)	F843L	probably benign	Het
Vmn1r24	T	G	6: 57,933,003 (GRCm39)	I172L	probably benign	Het
Vmn2r1	T	A	3: 64,012,209 (GRCm39)	I690N	possibly damaging	Het
Vmn2r111	T	A	17: 22,791,053 (GRCm39)	I82L	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	possibly damaging	Het
Zfp608	A	T	18: 55,031,888 (GRCm39)	I684N	probably benign	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
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
R5154:Cdk1	UTSW	10	69,176,298 (GRCm39)	unclassified	probably benign
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'- ACATAACCACTGTAGCCTGGCCTG -3'
(R):5'- ACTGTCCTGAACTTCCGTCCTCAAG -3'

Sequencing Primer
(F):5'- AGGTGCTCAGACGCTACTTC -3'
(R):5'- CAAGTTCTACTTGAGAGTGAAGGTC -3'

Posted On

2013-05-09