Incidental Mutation 'R3413:Ccnb3'
ID 267829
Institutional Source Beutler Lab
Gene Symbol Ccnb3
Ensembl Gene ENSMUSG00000051592
Gene Name cyclin B3
Synonyms
MMRRC Submission 040631-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # R3413 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 6845891-6907858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6874040 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 846 (E846D)
Ref Sequence ENSEMBL: ENSMUSP00000111418 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056725] [ENSMUST00000115752]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000056725
AA Change: E846D

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052272
Gene: ENSMUSG00000051592
AA Change: E846D

DomainStartEndE-ValueType
low complexity region 255 267 N/A INTRINSIC
low complexity region 370 379 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
low complexity region 795 819 N/A INTRINSIC
low complexity region 896 907 N/A INTRINSIC
CYCLIN 1172 1256 9.43e-16 SMART
Cyclin_C 1265 1381 8.63e-30 SMART
CYCLIN 1269 1353 1.06e-9 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115752
AA Change: E846D

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111418
Gene: ENSMUSG00000051592
AA Change: E846D

DomainStartEndE-ValueType
low complexity region 255 267 N/A INTRINSIC
low complexity region 370 379 N/A INTRINSIC
low complexity region 443 457 N/A INTRINSIC
low complexity region 795 819 N/A INTRINSIC
low complexity region 896 907 N/A INTRINSIC
CYCLIN 1172 1256 9.43e-16 SMART
Cyclin_C 1265 1381 8.63e-30 SMART
CYCLIN 1269 1353 1.06e-9 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency 98% (48/49)
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 through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd13 T C 8: 10,037,387 (GRCm39) probably benign Het
Ap2a2 T A 7: 141,178,689 (GRCm39) N105K probably benign Het
Axin1 A G 17: 26,407,012 (GRCm39) H535R probably damaging Het
Cdca7 G A 2: 72,315,631 (GRCm39) G365R probably damaging Het
Clvs2 T A 10: 33,498,967 (GRCm39) probably benign Het
Coq10a A G 10: 128,200,998 (GRCm39) V93A possibly damaging Het
Ddx42 A G 11: 106,138,636 (GRCm39) T812A probably benign Het
Dnaaf6 T A X: 139,006,770 (GRCm39) N216K possibly damaging Het
Eya1 T A 1: 14,344,433 (GRCm39) probably null Het
Fcna G C 2: 25,517,505 (GRCm39) P49A probably damaging Het
Gckr T A 5: 31,458,211 (GRCm39) probably null Het
Golgb1 A G 16: 36,707,709 (GRCm39) K68E probably damaging Het
Got1l1 A G 8: 27,689,864 (GRCm39) probably null Het
Hip1 T C 5: 135,451,026 (GRCm39) E451G probably damaging Het
Hs6st2 C T X: 50,770,332 (GRCm39) V50I possibly damaging Het
Ighv1-23 C T 12: 114,728,087 (GRCm39) V112I probably benign Het
Map1s A G 8: 71,365,163 (GRCm39) N107D probably damaging Het
Mmel1 T A 4: 154,974,043 (GRCm39) V361D probably damaging Het
Myh15 A G 16: 48,959,095 (GRCm39) D989G probably benign Het
Myo1g G T 11: 6,467,870 (GRCm39) H188Q possibly damaging Het
Nup210 G T 6: 91,002,224 (GRCm39) Q755K probably benign Het
Or14j3 A G 17: 37,900,587 (GRCm39) V219A probably benign Het
Or51q1c A G 7: 103,653,039 (GRCm39) M186V probably damaging Het
Plcz1 C T 6: 139,947,807 (GRCm39) R525Q probably damaging Het
Ppef2 T G 5: 92,376,581 (GRCm39) S649R probably damaging Het
Rusc2 T G 4: 43,415,935 (GRCm39) S414A probably damaging Het
Sez6l A G 5: 112,623,227 (GRCm39) L108P possibly damaging Het
Slc1a7 A G 4: 107,868,191 (GRCm39) E497G probably benign Het
Spag8 T A 4: 43,651,606 (GRCm39) S423C probably damaging Het
Sspo C T 6: 48,457,631 (GRCm39) R3178C probably damaging Het
St6galnac1 A G 11: 116,656,682 (GRCm39) W486R probably damaging Het
Syk A G 13: 52,785,775 (GRCm39) D327G probably benign Het
Tbc1d8b C T X: 138,614,140 (GRCm39) A391V probably benign Het
Tmed9 A G 13: 55,743,387 (GRCm39) E173G probably benign Het
Top1mt T C 15: 75,529,025 (GRCm39) N573S probably benign Het
Tusc1 C A 4: 93,223,173 (GRCm39) R162L probably damaging Het
Ubn2 A G 6: 38,475,674 (GRCm39) T1211A probably benign Het
Unc80 G A 1: 66,678,464 (GRCm39) V2082I probably benign Het
Vmn2r63 A G 7: 42,576,406 (GRCm39) F469S probably benign Het
Zfp92 C T X: 72,463,900 (GRCm39) probably benign Het
Zfyve28 C T 5: 34,357,028 (GRCm39) M723I probably benign Het
Zmynd8 A T 2: 165,657,371 (GRCm39) M533K probably damaging Het
Other mutations in Ccnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01060:Ccnb3 APN X 6,846,513 (GRCm39) missense probably benign 0.28
R4541:Ccnb3 UTSW X 6,875,308 (GRCm39) missense probably benign
R9126:Ccnb3 UTSW X 6,874,413 (GRCm39) missense probably damaging 0.99
X0020:Ccnb3 UTSW X 6,873,465 (GRCm39) missense probably benign 0.40
X0024:Ccnb3 UTSW X 6,876,074 (GRCm39) missense probably benign
Z1176:Ccnb3 UTSW X 6,875,614 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- GCTCCTTCAGAACAGTCACCAG -3'
(R):5'- ACCAGTAGTGATGTTGATGAGCC -3'

Sequencing Primer
(F):5'- AGTCACCAGCTCAGCTCTGTG -3'
(R):5'- TGATGAGCCTCTTAGTCATCAG -3'
Posted On 2015-02-18