Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00960:Cdk4'

28387

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 #

IGL00960

Quality Score

Status

Chromosome

Chromosomal Location

126899404-126903157 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126900166 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 21 (Y21C)

Ref Sequence

ENSEMBL: ENSMUSP00000116190 (fasta)

Gene Model

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

AlphaFold

P30285

Predicted Effect

probably damaging
Transcript: ENSMUST00000006911
AA Change: Y21C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000006911
Gene: ENSMUSG00000006728
AA Change: Y21C

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

probably damaging
Transcript: ENSMUST00000120226
AA Change: Y21C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112549
Gene: ENSMUSG00000006728
AA Change: Y21C

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 damaging
Transcript: ENSMUST00000125682
AA Change: Y21C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117234
Gene: ENSMUSG00000006728
AA Change: Y21C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000133115
AA Change: Y21C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000122973
Gene: ENSMUSG00000006728
AA Change: Y21C

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000142558
AA Change: Y21C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728
AA Change: Y21C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145670

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135179

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140254

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218603

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217875

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220344

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,671 (GRCm39)	R444L	probably damaging	Het
Baiap2	T	A	11: 119,890,118 (GRCm39)	S460T	possibly damaging	Het
Cckar	A	G	5: 53,858,634 (GRCm39)	Y158H	probably damaging	Het
Entpd1	C	T	19: 40,699,714 (GRCm39)	P42S	probably benign	Het
Epha8	A	T	4: 136,679,150 (GRCm39)		probably null	Het
Fastkd1	A	T	2: 69,524,997 (GRCm39)		probably benign	Het
Fmnl2	A	G	2: 53,013,494 (GRCm39)	D951G	probably damaging	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnj5	T	A	9: 32,233,719 (GRCm39)	T199S	probably damaging	Het
Med13	T	C	11: 86,181,866 (GRCm39)		probably benign	Het
Mycbp2	G	T	14: 103,466,820 (GRCm39)	H1314Q	possibly damaging	Het
Ncapd2	A	T	6: 125,150,811 (GRCm39)	S795T	probably benign	Het
Nf1	T	C	11: 79,335,947 (GRCm39)	S1042P	probably damaging	Het
Nlgn1	C	A	3: 25,966,861 (GRCm39)	L197F	probably damaging	Het
Nsun7	A	G	5: 66,446,846 (GRCm39)	Y428C	probably benign	Het
Or10d5j	A	G	9: 39,867,455 (GRCm39)	Y259H	probably damaging	Het
Parp14	T	C	16: 35,661,589 (GRCm39)	D1453G	probably benign	Het
Pcdhb8	A	T	18: 37,489,026 (GRCm39)	I235F	probably benign	Het
Pclo	T	C	5: 14,725,234 (GRCm39)	V1364A	unknown	Het
Polq	T	C	16: 36,880,874 (GRCm39)	S734P	probably damaging	Het
Sco1	T	C	11: 66,954,864 (GRCm39)	*290Q	probably null	Het
Slc22a3	A	T	17: 12,644,497 (GRCm39)	I496N	probably damaging	Het
Slc5a8	T	G	10: 88,757,627 (GRCm39)	I539S	probably benign	Het
Tecta	A	G	9: 42,270,376 (GRCm39)	F1311L	possibly damaging	Het
Tex261	A	T	6: 83,752,650 (GRCm39)	I19N	possibly damaging	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Vmn2r71	A	T	7: 85,273,582 (GRCm39)	S799C	probably damaging	Het
Zar1	G	A	5: 72,734,628 (GRCm39)	T197I	probably damaging	Het
Zfa-ps	A	G	10: 52,420,043 (GRCm39)		noncoding transcript	Het

Other mutations in Cdk4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01326:Cdk4	APN	10	126,900,492 (GRCm39)	missense	possibly damaging	0.95
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

2013-04-17