Incidental Mutation 'IGL01326:Cdk4'
ID74273
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cdk4
Ensembl Gene ENSMUSG00000006728
Gene Namecyclin-dependent kinase 4
SynonymsCrk3, p34/cdk4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.938) question?
Stock #IGL01326
Quality Score
Status
Chromosome10
Chromosomal Location127063534-127067920 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 127064623 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
S_TKc 6 295 9.2e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000040307
SMART Domains Protein: ENSMUSP00000041581
Gene: ENSMUSG00000040502

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
S_TKc 6 250 1.55e-70 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135179
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140254
Predicted Effect probably benign
Transcript: ENSMUST00000142558
SMART Domains Protein: ENSMUSP00000116190
Gene: ENSMUSG00000006728

DomainStartEndE-ValueType
Pfam:Pkinase 6 74 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145670
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217875
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218603
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfm1 T C 2: 28,229,552 Y385H probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Cdk4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00960:Cdk4 APN 10 127064297 missense probably damaging 1.00
R0140:Cdk4 UTSW 10 127064345 missense probably damaging 1.00
R0799:Cdk4 UTSW 10 127064994 missense probably damaging 0.98
R1437:Cdk4 UTSW 10 127064689 missense probably damaging 1.00
R1575:Cdk4 UTSW 10 127064651 missense probably damaging 1.00
R1656:Cdk4 UTSW 10 127064980 missense probably benign 0.00
R1761:Cdk4 UTSW 10 127064677 splice site probably null
R2567:Cdk4 UTSW 10 127064276 missense probably benign 0.01
R4679:Cdk4 UTSW 10 127064911 missense possibly damaging 0.93
R4790:Cdk4 UTSW 10 127064701 missense probably damaging 1.00
R4897:Cdk4 UTSW 10 127064575 intron probably benign
R4946:Cdk4 UTSW 10 127064890 splice site probably null
R5755:Cdk4 UTSW 10 127064722 critical splice donor site probably null
R6515:Cdk4 UTSW 10 127066183 missense probably null 0.06
R6868:Cdk4 UTSW 10 127065001 missense probably benign 0.43
R7488:Cdk4 UTSW 10 127064237 start codon destroyed probably null 0.26
R7748:Cdk4 UTSW 10 127064429 missense possibly damaging 0.78
Posted On2013-10-07