Incidental Mutation 'R6518:Cdkn1b'
ID 520880
Institutional Source Beutler Lab
Gene Symbol Cdkn1b
Ensembl Gene ENSMUSG00000003031
Gene Name cyclin dependent kinase inhibitor 1B
Synonyms p27Kip1, p27
MMRRC Submission 044645-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R6518 (G1)
Quality Score 214.009
Status Validated
Chromosome 6
Chromosomal Location 134897364-134902476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134898283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 134 (M134K)
Ref Sequence ENSEMBL: ENSMUSP00000145056 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003115] [ENSMUST00000067327] [ENSMUST00000204807]
AlphaFold P46414
Predicted Effect probably benign
Transcript: ENSMUST00000003115
AA Change: M134K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003115
Gene: ENSMUSG00000003031
AA Change: M134K

DomainStartEndE-ValueType
Pfam:CDI 30 80 8.5e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067327
AA Change: M134K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065832
Gene: ENSMUSG00000003031
AA Change: M134K

DomainStartEndE-ValueType
Pfam:CDI 31 79 7.6e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204807
AA Change: M134K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000145056
Gene: ENSMUSG00000003031
AA Change: M134K

DomainStartEndE-ValueType
Pfam:CDI 31 79 7.6e-25 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.5%
Validation Efficiency 98% (48/49)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a cyclin-dependent kinase inhibitor, which shares a limited similarity with CDK inhibitor CDKN1A/p21. The encoded protein binds to and prevents the activation of cyclin E-CDK2 or cyclin D-CDK4 complexes, and thus controls the cell cycle progression at G1. The degradation of this protein, which is triggered by its CDK dependent phosphorylation and subsequent ubiquitination by SCF complexes, is required for the cellular transition from quiescence to the proliferative state. Mutations in this gene are associated with multiple endocrine neoplasia type IV (MEN4). [provided by RefSeq, Apr 2014]
PHENOTYPE: Homozygous mutants have increased body weight, enlargement of major organs, impaired hearing and increased tumor susceptibility. Females are sterile, having impaired luteal cell differentiation and disrupted estrus cycle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T C 4: 103,123,608 (GRCm39) D88G probably damaging Het
Abcc12 A G 8: 87,235,718 (GRCm39) Het
Angptl6 T C 9: 20,786,656 (GRCm39) H330R probably damaging Het
Asxl3 T A 18: 22,649,397 (GRCm39) V462E probably damaging Het
Atp13a2 G C 4: 140,728,165 (GRCm39) R503P possibly damaging Het
C1ra T A 6: 124,498,534 (GRCm39) probably null Het
C2 T A 17: 35,083,094 (GRCm39) I426F probably damaging Het
C4b A T 17: 34,953,179 (GRCm39) Y1049N probably damaging Het
Cenpn A G 8: 117,663,904 (GRCm39) D145G possibly damaging Het
Ckap2 A T 8: 22,663,319 (GRCm39) I492K probably benign Het
Cog2 G A 8: 125,253,842 (GRCm39) W67* probably null Het
Col7a1 T C 9: 108,784,595 (GRCm39) F172L unknown Het
Dcaf1 T C 9: 106,712,788 (GRCm39) I112T probably damaging Het
Ddx4 T C 13: 112,741,081 (GRCm39) I518V probably benign Het
Dnah10 T C 5: 124,835,419 (GRCm39) L908P probably damaging Het
Dsg3 T C 18: 20,666,479 (GRCm39) Y563H probably benign Het
Gm16686 A C 4: 88,673,725 (GRCm39) probably benign Het
Gpr139 A T 7: 118,743,734 (GRCm39) F284I probably damaging Het
Gtf2h3 C T 5: 124,722,360 (GRCm39) T121I probably benign Het
Ice1 A T 13: 70,754,428 (GRCm39) F553I possibly damaging Het
Igkv6-29 T A 6: 70,115,497 (GRCm39) Q99L probably damaging Het
Lipt1 A G 1: 37,914,856 (GRCm39) N304S probably benign Het
Lmo1 A C 7: 108,742,783 (GRCm39) L39R probably damaging Het
Mcc T A 18: 44,794,878 (GRCm39) probably benign Het
Mindy3 T C 2: 12,386,940 (GRCm39) T74A probably damaging Het
Obi1 A T 14: 104,716,501 (GRCm39) L624H probably damaging Het
Or11a4 G T 17: 37,536,159 (GRCm39) A48S probably benign Het
Or13j1 A G 4: 43,706,334 (GRCm39) V78A probably benign Het
Or4e5 T C 14: 52,728,077 (GRCm39) I115V probably damaging Het
Ormdl1 T C 1: 53,348,116 (GRCm39) Y153H probably benign Het
Pdzrn3 A T 6: 101,127,475 (GRCm39) *1064K probably null Het
Pias1 A G 9: 62,859,142 (GRCm39) L113P probably damaging Het
Piezo2 A T 18: 63,239,342 (GRCm39) I514N probably damaging Het
Prkd1 T C 12: 50,472,278 (GRCm39) T212A probably benign Het
Rsph10b A G 5: 143,900,691 (GRCm39) Y151C probably damaging Het
Samhd1 G A 2: 156,956,217 (GRCm39) T325M possibly damaging Het
Seh1l A G 18: 67,922,519 (GRCm39) T291A probably damaging Het
Smim24 A G 10: 81,229,695 (GRCm39) M1V probably null Het
Sp140 TTTTTTTTTTTT TTTTTTTTTTTTTTTTT 1: 85,572,291 (GRCm39) probably benign Het
Spata31f1e A G 4: 42,791,750 (GRCm39) I794T probably benign Het
Speer3 T G 5: 13,845,462 (GRCm39) I165S possibly damaging Het
Timm23 A G 14: 31,923,594 (GRCm39) probably null Het
Tmem17 A T 11: 22,467,427 (GRCm39) Y75F possibly damaging Het
Tmem86b A T 7: 4,632,608 (GRCm39) C85* probably null Het
Try5 A G 6: 41,291,613 (GRCm39) F6S probably benign Het
Vmn2r71 G T 7: 85,270,436 (GRCm39) C534F probably damaging Het
Vmn2r85 A T 10: 130,265,281 (GRCm39) D67E probably benign Het
Wars2 A T 3: 99,124,116 (GRCm39) M326L probably benign Het
Wdr70 A T 15: 8,108,821 (GRCm39) S108R unknown Het
Zfp677 A G 17: 21,618,392 (GRCm39) H483R probably damaging Het
Other mutations in Cdkn1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Cdkn1b APN 6 134,897,970 (GRCm39) nonsense probably null
R1434:Cdkn1b UTSW 6 134,898,060 (GRCm39) missense probably damaging 1.00
R2005:Cdkn1b UTSW 6 134,898,919 (GRCm39) small insertion probably benign
R6213:Cdkn1b UTSW 6 134,898,206 (GRCm39) missense probably benign 0.03
R7409:Cdkn1b UTSW 6 134,898,280 (GRCm39) missense probably benign 0.45
R9487:Cdkn1b UTSW 6 134,897,815 (GRCm39) intron probably benign
R9711:Cdkn1b UTSW 6 134,898,058 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- AGAATCATAAGCCCCTGGAGG -3'
(R):5'- CGATTTCCCAGAGCTAAAGCAG -3'

Sequencing Primer
(F):5'- CCTGGAGGGCAGATACGAGTG -3'
(R):5'- GCTAAAGCAGAACACGCTG -3'
Posted On 2018-06-06