Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01326:Cdk4'

74273

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdk4

Ensembl Gene

ENSMUSG00000006728

Gene Name

cyclin dependent kinase 4

Synonyms

Crk3, p34/cdk4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.914) question?

Stock #

IGL01326

Quality Score

Status

Chromosome

Chromosomal Location

126899404-126903157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126900492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000112549 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006911] [ENSMUST00000040307] [ENSMUST00000060991] [ENSMUST00000120226] [ENSMUST00000125682] [ENSMUST00000133115] [ENSMUST00000142558]

AlphaFold

P30285

Predicted Effect

probably benign
Transcript: ENSMUST00000006911
AA Change: D86G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728
AA Change: D86G

Domain	Start	End	E-Value	Type
S_TKc	6	295	9.2e-96	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000040307

SMART Domains

Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502

Domain	Start	End	E-Value	Type
low complexity region	20	45	N/A	INTRINSIC
low complexity region	50	60	N/A	INTRINSIC
low complexity region	76	105	N/A	INTRINSIC
RINGv	109	156	7.51e-18	SMART
transmembrane domain	183	205	N/A	INTRINSIC
Blast:AAA	211	238	2e-9	BLAST
low complexity region	267	284	N/A	INTRINSIC
low complexity region	291	302	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000060991

SMART Domains

Protein: ENSMUSP00000057751
Gene: ENSMUSG00000006736

Domain	Start	End	E-Value	Type
Pfam:Tetraspannin	8	200	1.2e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120226
AA Change: D86G

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728
AA Change: D86G

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	103	6e-10	PFAM
low complexity region	121	138	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123456

Predicted Effect

probably benign
Transcript: ENSMUST00000125682
AA Change: D86G

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728
AA Change: D86G

Domain	Start	End	E-Value	Type
S_TKc	6	261	5.19e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000133115
AA Change: D86G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728
AA Change: D86G

Domain	Start	End	E-Value	Type
S_TKc	6	250	1.55e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135179

Predicted Effect

probably benign
Transcript: ENSMUST00000142558

SMART Domains

Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

Domain	Start	End	E-Value	Type
Pfam:Pkinase	6	74	1.6e-8	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217875

Coding Region Coverage

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 highly similar to the gene products of S. cerevisiae cdc28 and S. pombe cdc2. It is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression. The activity of this kinase is restricted to the G1-S phase, which is controlled by the regulatory subunits D-type cyclins and CDK inhibitor p16(INK4a). This kinase was shown to be responsible for the phosphorylation of retinoblastoma gene product (Rb). Mutations in this gene as well as in its related proteins including D-type cyclins, p16(INK4a) and Rb were all found to be associated with tumorigenesis of a variety of cancers. Multiple polyadenylation sites of this gene have been reported. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants have small size, insulin-deficient diabetes, sterility in females; near-sterility in males and impaired prolactin secretion due to hypoplastic pituitary development. Locomotor and endocrine gland defects are seen with some alleles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	G	A	3: 137,992,672 (GRCm39)	V263M	probably damaging	Het
Akap13	T	A	7: 75,375,096 (GRCm39)	H1909Q	probably benign	Het
Atg2b	C	T	12: 105,588,403 (GRCm39)	A1936T	probably damaging	Het
Atp8b3	G	T	10: 80,360,210 (GRCm39)	L954M	probably damaging	Het
C8a	T	C	4: 104,713,617 (GRCm39)	Y171C	probably damaging	Het
Cd6	A	G	19: 10,768,466 (GRCm39)	S508P	probably benign	Het
Cdr2l	G	T	11: 115,281,796 (GRCm39)	R100S	probably benign	Het
Cndp1	T	A	18: 84,640,357 (GRCm39)	T283S	probably benign	Het
Cr2	T	C	1: 194,823,529 (GRCm39)	Y1023C	probably null	Het
Csmd3	A	G	15: 47,713,181 (GRCm39)	F1494L	probably benign	Het
Eeig2	A	G	3: 108,887,101 (GRCm39)	V299A	possibly damaging	Het
Eng	G	T	2: 32,562,394 (GRCm39)	G231W	probably benign	Het
Erp44	A	G	4: 48,218,126 (GRCm39)	V181A	probably benign	Het
Fkbp15	A	G	4: 62,241,487 (GRCm39)	S553P	probably damaging	Het
Glg1	A	G	8: 111,909,205 (GRCm39)	V495A	probably damaging	Het
Gm9631	A	T	11: 121,836,454 (GRCm39)	D28E	possibly damaging	Het
Gnptab	G	T	10: 88,268,927 (GRCm39)	L543F	probably damaging	Het
H4c3	A	T	13: 23,882,353 (GRCm39)	I27N	probably damaging	Het
Khdrbs2	T	G	1: 32,696,558 (GRCm39)	L329R	possibly damaging	Het
Kidins220	C	A	12: 25,088,498 (GRCm39)	H1080Q	probably damaging	Het
Maml1	G	A	11: 50,156,715 (GRCm39)	P487S	probably benign	Het
Me1	C	T	9: 86,480,771 (GRCm39)		probably null	Het
Morc2a	C	T	11: 3,631,775 (GRCm39)	R569C	probably benign	Het
Mrc1	A	G	2: 14,271,335 (GRCm39)	Q413R	probably damaging	Het
Mrgprx1	A	T	7: 47,671,517 (GRCm39)	C77S	probably benign	Het
Mtarc2	T	C	1: 184,566,048 (GRCm39)		probably benign	Het
Myo1d	A	T	11: 80,575,147 (GRCm39)		probably benign	Het
Nr4a1	T	G	15: 101,171,940 (GRCm39)	L538R	probably damaging	Het
Olfm1	T	C	2: 28,119,564 (GRCm39)	Y385H	probably damaging	Het
Or4a39	A	T	2: 89,236,675 (GRCm39)	F249L	possibly damaging	Het
Or5m9	A	G	2: 85,877,627 (GRCm39)	E267G	probably damaging	Het
Pkd1	T	A	17: 24,795,148 (GRCm39)	Y2278*	probably null	Het
Plcg2	T	C	8: 118,300,738 (GRCm39)		probably benign	Het
Prkdc	G	T	16: 15,647,556 (GRCm39)	C3660F	probably benign	Het
Ptpn11	T	C	5: 121,281,199 (GRCm39)	D493G	probably damaging	Het
Rad23b	T	A	4: 55,383,601 (GRCm39)	F278I	possibly damaging	Het
Saxo2	T	C	7: 82,297,613 (GRCm39)	I9V	probably benign	Het
Scn7a	T	C	2: 66,582,604 (GRCm39)	I98V	probably benign	Het
Serac1	T	A	17: 6,124,528 (GRCm39)		probably benign	Het
Simc1	T	C	13: 54,672,473 (GRCm39)	C274R	probably benign	Het
Sirt3	A	G	7: 140,444,006 (GRCm39)		probably benign	Het
Tctn3	A	G	19: 40,585,880 (GRCm39)	L555P	probably damaging	Het
Ttc14	A	G	3: 33,855,507 (GRCm39)	I151V	probably benign	Het
Ush2a	T	A	1: 187,995,518 (GRCm39)	Y96*	probably null	Het
Usp42	T	C	5: 143,706,970 (GRCm39)	T270A	possibly damaging	Het
Vmn1r31	A	G	6: 58,449,784 (GRCm39)	I27T	probably benign	Het
Vmn2r93	G	A	17: 18,536,906 (GRCm39)	A530T	possibly damaging	Het

Other mutations in Cdk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00960:Cdk4	APN	10	126,900,166 (GRCm39)	missense	probably damaging	1.00
R0140:Cdk4	UTSW	10	126,900,214 (GRCm39)	missense	probably damaging	1.00
R0799:Cdk4	UTSW	10	126,900,863 (GRCm39)	missense	probably damaging	0.98
R1437:Cdk4	UTSW	10	126,900,558 (GRCm39)	missense	probably damaging	1.00
R1575:Cdk4	UTSW	10	126,900,520 (GRCm39)	missense	probably damaging	1.00
R1656:Cdk4	UTSW	10	126,900,849 (GRCm39)	missense	probably benign	0.00
R1761:Cdk4	UTSW	10	126,900,546 (GRCm39)	unclassified	probably benign
R2567:Cdk4	UTSW	10	126,900,145 (GRCm39)	missense	probably benign	0.01
R4679:Cdk4	UTSW	10	126,900,780 (GRCm39)	missense	possibly damaging	0.93
R4790:Cdk4	UTSW	10	126,900,570 (GRCm39)	missense	probably damaging	1.00
R4897:Cdk4	UTSW	10	126,900,444 (GRCm39)	intron	probably benign
R4946:Cdk4	UTSW	10	126,900,759 (GRCm39)	splice site	probably null
R5755:Cdk4	UTSW	10	126,900,591 (GRCm39)	critical splice donor site	probably null
R6515:Cdk4	UTSW	10	126,902,052 (GRCm39)	missense	probably null	0.06
R6868:Cdk4	UTSW	10	126,900,870 (GRCm39)	missense	probably benign	0.43
R7488:Cdk4	UTSW	10	126,900,106 (GRCm39)	start codon destroyed	probably null	0.26
R7748:Cdk4	UTSW	10	126,900,298 (GRCm39)	missense	possibly damaging	0.78
R8956:Cdk4	UTSW	10	126,900,546 (GRCm39)	unclassified	probably benign
R9082:Cdk4	UTSW	10	126,900,732 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07