Incidental Mutation 'R1549:Ccnd1'
ID 169785
Institutional Source Beutler Lab
Gene Symbol Ccnd1
Ensembl Gene ENSMUSG00000070348
Gene Name cyclin D1
Synonyms bcl-1, Cyl-1, CycD1, cD1, PRAD1
MMRRC Submission 039588-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R1549 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 144483668-144493568 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 144491073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 178 (I178L)
Ref Sequence ENSEMBL: ENSMUSP00000091495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093962]
AlphaFold P25322
Predicted Effect probably benign
Transcript: ENSMUST00000093962
AA Change: I178L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091495
Gene: ENSMUSG00000070348
AA Change: I178L

DomainStartEndE-ValueType
CYCLIN 62 146 1.2e-22 SMART
Cyclin_C 155 283 1.36e-18 SMART
CYCLIN 163 253 4.41e0 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208193
Meta Mutation Damage Score 0.0635 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.8%
  • 20x: 90.8%
Validation Efficiency 97% (58/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations may exhibit reduced body size and viability, impaired retinal development, pregnancy-insensitive mammary glands, and modified development of mammary cancer induced by neu and ras oncogenes, depending on the specific allele or genetic background. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik A T 3: 124,210,441 (GRCm39) I157K probably benign Het
Ank3 A T 10: 69,837,812 (GRCm39) N727Y probably benign Het
Atg16l1 A G 1: 87,701,910 (GRCm39) T251A probably benign Het
Bcl11b T A 12: 107,883,422 (GRCm39) I226F probably damaging Het
Birc6 A G 17: 74,969,737 (GRCm39) H4260R probably damaging Het
Camta1 A G 4: 151,670,920 (GRCm39) I85T probably damaging Het
Cblb A G 16: 51,853,373 (GRCm39) probably benign Het
Clcn4 A G 7: 7,294,681 (GRCm39) V329A probably damaging Het
Col17a1 C T 19: 47,637,349 (GRCm39) probably benign Het
Col7a1 A G 9: 108,785,034 (GRCm39) T254A unknown Het
Ctif C A 18: 75,698,096 (GRCm39) R188L probably damaging Het
Cyp2c69 A T 19: 39,831,430 (GRCm39) L461Q probably benign Het
Ddc A G 11: 11,796,656 (GRCm39) probably null Het
Dpp10 T A 1: 123,269,109 (GRCm39) probably null Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Eif2b4 T C 5: 31,350,265 (GRCm39) E19G possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Galnt14 A G 17: 73,832,308 (GRCm39) L269P possibly damaging Het
Gm2381 T A 7: 42,471,825 (GRCm39) H18L probably benign Het
Gpbp1 G T 13: 111,573,113 (GRCm39) D326E probably benign Het
Gpr162 C T 6: 124,837,051 (GRCm39) R331H probably damaging Het
Iigp1 G A 18: 60,522,948 (GRCm39) G22D probably benign Het
Kcns3 T C 12: 11,142,084 (GRCm39) H205R probably damaging Het
Klk1b26 C T 7: 43,665,826 (GRCm39) probably benign Het
Lime1 A G 2: 181,025,169 (GRCm39) Y242C probably benign Het
Manba A G 3: 135,250,567 (GRCm39) D398G probably damaging Het
Mapk3 A T 7: 126,362,684 (GRCm39) K219* probably null Het
Mdfic G T 6: 15,799,844 (GRCm39) G324C probably damaging Het
Mdga1 G A 17: 30,056,972 (GRCm39) H837Y probably damaging Het
Nck1 T A 9: 100,379,925 (GRCm39) M109L probably benign Het
Or1d2 A G 11: 74,256,076 (GRCm39) I194V probably benign Het
Or2w1b T C 13: 21,300,288 (GRCm39) V142A probably benign Het
Pabpc1l G T 2: 163,879,091 (GRCm39) V313F possibly damaging Het
Phf3 C T 1: 30,843,923 (GRCm39) V1679I probably benign Het
Pou4f1 T C 14: 104,705,076 (GRCm39) I32V probably benign Het
Pspc1 T G 14: 56,986,398 (GRCm39) H351P probably damaging Het
Ptk7 T C 17: 46,883,578 (GRCm39) E829G probably damaging Het
Rab23 A G 1: 33,777,378 (GRCm39) Y164C possibly damaging Het
Slc36a3 A G 11: 55,033,596 (GRCm39) W141R probably damaging Het
Slc7a14 T C 3: 31,278,267 (GRCm39) E446G possibly damaging Het
Stim2 G A 5: 54,262,667 (GRCm39) R303Q probably damaging Het
Tbcd A G 11: 121,451,579 (GRCm39) I550V probably benign Het
Tmed3 A C 9: 89,581,998 (GRCm39) L155R probably damaging Het
Trav16d-dv11 A G 14: 53,284,799 (GRCm39) probably benign Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Usp16 G T 16: 87,261,722 (GRCm39) V113F probably damaging Het
Vmn2r12 T G 5: 109,240,696 (GRCm39) Y139S probably benign Het
Vmn2r5 G T 3: 64,411,421 (GRCm39) D382E probably damaging Het
Zfp1010 T C 2: 176,957,378 (GRCm39) E40G probably damaging Het
Zfp217 A C 2: 169,956,390 (GRCm39) N869K probably benign Het
Zswim2 G T 2: 83,754,092 (GRCm39) D189E probably benign Het
Other mutations in Ccnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0076:Ccnd1 UTSW 7 144,493,402 (GRCm39) missense probably benign 0.00
R0544:Ccnd1 UTSW 7 144,491,023 (GRCm39) splice site probably benign
R2054:Ccnd1 UTSW 7 144,491,128 (GRCm39) missense possibly damaging 0.95
R3895:Ccnd1 UTSW 7 144,491,631 (GRCm39) missense probably damaging 0.98
R3962:Ccnd1 UTSW 7 144,487,787 (GRCm39) missense probably damaging 1.00
R5624:Ccnd1 UTSW 7 144,491,749 (GRCm39) missense probably benign 0.00
R5710:Ccnd1 UTSW 7 144,491,781 (GRCm39) missense possibly damaging 0.82
R6380:Ccnd1 UTSW 7 144,493,306 (GRCm39) missense probably benign 0.00
R7352:Ccnd1 UTSW 7 144,491,124 (GRCm39) missense possibly damaging 0.86
R7672:Ccnd1 UTSW 7 144,487,793 (GRCm39) missense possibly damaging 0.75
R7813:Ccnd1 UTSW 7 144,491,622 (GRCm39) critical splice donor site probably null
R7841:Ccnd1 UTSW 7 144,491,718 (GRCm39) missense probably damaging 1.00
R9764:Ccnd1 UTSW 7 144,491,770 (GRCm39) missense probably benign 0.01
X0026:Ccnd1 UTSW 7 144,491,689 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCAAGAGAATGTGCCACCCAGTATC -3'
(R):5'- AACCACTCTGAAATGTGGGCGG -3'

Sequencing Primer
(F):5'- AATGTGCCACCCAGTATCATCTATC -3'
(R):5'- ACAGGCACATTTTGTTGTTTACC -3'
Posted On 2014-04-13