Incidental Mutation 'R7813:Ccnd1'
ID 601299
Institutional Source Beutler Lab
Gene Symbol Ccnd1
Ensembl Gene ENSMUSG00000070348
Gene Name cyclin D1
Synonyms bcl-1, Cyl-1, CycD1, cD1, PRAD1
MMRRC Submission 045868-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.953) question?
Stock # R7813 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 144483668-144493568 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 144491622 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000091495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093962]
AlphaFold P25322
Predicted Effect probably null
Transcript: ENSMUST00000093962
SMART Domains Protein: ENSMUSP00000091495
Gene: ENSMUSG00000070348

DomainStartEndE-ValueType
CYCLIN 62 146 1.2e-22 SMART
Cyclin_C 155 283 1.36e-18 SMART
CYCLIN 163 253 4.41e0 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (60/60)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik G A 10: 29,100,896 (GRCm39) R423K probably benign Het
Acot7 T C 4: 152,307,575 (GRCm39) S170P probably damaging Het
Arhgap40 A G 2: 158,380,620 (GRCm39) Q341R probably benign Het
Arhgef28 T C 13: 98,082,189 (GRCm39) E1206G possibly damaging Het
Arpp21 T A 9: 112,008,133 (GRCm39) K122N probably damaging Het
Arsi T C 18: 61,049,726 (GRCm39) L203P possibly damaging Het
C1rb A T 6: 124,557,488 (GRCm39) I542F probably benign Het
Cadm3 C A 1: 173,171,956 (GRCm39) V206L probably benign Het
Card11 T C 5: 140,885,419 (GRCm39) D380G probably damaging Het
Ccdc42 A T 11: 68,488,534 (GRCm39) Q164L probably benign Het
Cep120 T C 18: 53,871,578 (GRCm39) D98G probably damaging Het
Chrd A G 16: 20,554,155 (GRCm39) T336A probably benign Het
Clca3a2 C A 3: 144,790,726 (GRCm39) A449S probably benign Het
Dnah7a A G 1: 53,657,245 (GRCm39) F844L probably benign Het
Fbxo11 T A 17: 88,308,245 (GRCm39) I480F Het
Fcrl5 A G 3: 87,350,930 (GRCm39) T147A probably benign Het
Gm15130 T A 2: 110,969,320 (GRCm39) I133F Het
Gpr155 C T 2: 73,212,329 (GRCm39) W98* probably null Het
Hspa4 A G 11: 53,162,863 (GRCm39) S408P probably damaging Het
Il12rb2 G A 6: 67,333,635 (GRCm39) R215C possibly damaging Het
Itga5 T A 15: 103,265,741 (GRCm39) probably null Het
Kcnip3 T A 2: 127,323,703 (GRCm39) probably null Het
Krt12 A G 11: 99,309,309 (GRCm39) probably null Het
Marchf3 A T 18: 56,916,163 (GRCm39) S177R probably benign Het
Minpp1 T G 19: 32,468,803 (GRCm39) F229V probably damaging Het
Muc2 G A 7: 141,282,543 (GRCm39) probably null Het
Myh10 A G 11: 68,676,735 (GRCm39) T906A probably benign Het
Myh13 A G 11: 67,218,056 (GRCm39) D43G probably benign Het
Nacad C T 11: 6,549,071 (GRCm39) D1327N probably benign Het
Nbeal1 A T 1: 60,331,048 (GRCm39) Y2219F probably damaging Het
Nckap5 A G 1: 125,953,163 (GRCm39) S1130P probably benign Het
Pfkfb3 T C 2: 11,486,719 (GRCm39) N415S probably benign Het
Plxdc2 A G 2: 16,665,678 (GRCm39) I293V possibly damaging Het
Prpf38a A T 4: 108,436,277 (GRCm39) I12N probably damaging Het
Ptprt C T 2: 161,372,413 (GRCm39) V1420M probably damaging Het
Qars1 A G 9: 108,386,670 (GRCm39) D161G probably damaging Het
Scaf8 T A 17: 3,247,549 (GRCm39) D957E probably damaging Het
Scn7a T C 2: 66,506,689 (GRCm39) Y1400C probably damaging Het
Sis T C 3: 72,832,801 (GRCm39) I999V probably benign Het
Sorcs2 A T 5: 36,181,958 (GRCm39) L1054H probably damaging Het
Sptbn1 C T 11: 30,088,455 (GRCm39) A906T probably damaging Het
Srd5a2 A G 17: 74,331,541 (GRCm39) F152S probably benign Het
Stkld1 T A 2: 26,835,888 (GRCm39) L241* probably null Het
Strip2 A T 6: 29,923,912 (GRCm39) probably null Het
Tcaf1 A C 6: 42,650,363 (GRCm39) Y905* probably null Het
Tet2 T C 3: 133,179,404 (GRCm39) I1254V probably benign Het
Tiam2 A T 17: 3,487,522 (GRCm39) N681I probably damaging Het
Trappc6a A G 7: 19,248,124 (GRCm39) probably null Het
Trav12-2 A T 14: 53,854,223 (GRCm39) K66* probably null Het
Ttn T A 2: 76,597,841 (GRCm39) I19691F probably damaging Het
Tubgcp5 A T 7: 55,450,444 (GRCm39) Q185L possibly damaging Het
Vmn1r44 A T 6: 89,869,192 (GRCm39) probably benign Het
Vps13a T C 19: 16,628,820 (GRCm39) D2717G possibly damaging Het
Vps13d A T 4: 144,904,633 (GRCm39) Y133* probably null Het
Zer1 T C 2: 30,000,385 (GRCm39) D265G probably damaging Het
Zfp710 A G 7: 79,730,859 (GRCm39) D12G possibly damaging Het
Zfp819 T C 7: 43,266,191 (GRCm39) S225P 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
R1549:Ccnd1 UTSW 7 144,491,073 (GRCm39) missense 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
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'- CCACATTTCAGAGTGGTTTCAC -3'
(R):5'- TGAACTACCTGGACCGCTTC -3'

Sequencing Primer
(F):5'- TGGTTTCACCACAGACATGG -3'
(R):5'- GCTTCCTGTCCCTGGAGC -3'
Posted On 2019-11-26