Incidental Mutation 'IGL01060:Ccnb3'
ID 53314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnb3
Ensembl Gene ENSMUSG00000051592
Gene Name cyclin B3
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.301) question?
Stock # IGL01060
Quality Score
Status
Chromosome X
Chromosomal Location 6845891-6907858 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6846513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1362 (N1362K)
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: N1362K

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000052272
Gene: ENSMUSG00000051592
AA Change: N1362K

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: N1362K

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000111418
Gene: ENSMUSG00000051592
AA Change: N1362K

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
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 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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Anks4b A G 7: 119,773,148 (GRCm39) T3A possibly damaging Het
Arhgef26 T A 3: 62,247,542 (GRCm39) S209T probably benign Het
Ccdc78 A G 17: 26,007,806 (GRCm39) D281G probably damaging Het
Dnah2 T C 11: 69,368,918 (GRCm39) N1662S possibly damaging Het
Elp1 C T 4: 56,784,537 (GRCm39) probably null Het
Ern2 T A 7: 121,769,315 (GRCm39) R904W probably damaging Het
Fam120c C T X: 150,252,583 (GRCm39) P1045S probably benign Het
Gm12887 C T 4: 121,473,610 (GRCm39) probably benign Het
Gpld1 G A 13: 25,166,549 (GRCm39) G627S probably damaging Het
Krt77 T A 15: 101,769,315 (GRCm39) probably benign Het
Ltf A T 9: 110,851,950 (GRCm39) probably null Het
Map3k6 G T 4: 132,974,613 (GRCm39) probably null Het
Nsd1 G A 13: 55,411,242 (GRCm39) G1431D probably damaging Het
Plekhm2 C T 4: 141,369,956 (GRCm39) probably null Het
Popdc2 T A 16: 38,194,327 (GRCm39) N249K probably damaging Het
Ppm1h A G 10: 122,743,476 (GRCm39) D400G possibly damaging Het
Rps6ka1 A T 4: 133,588,181 (GRCm39) S320T probably damaging Het
Rsph6a C T 7: 18,788,793 (GRCm39) R42* probably null Het
Sap130 T C 18: 31,848,496 (GRCm39) L967P probably damaging Het
Smyd2 T C 1: 189,629,667 (GRCm39) E121G possibly damaging Het
Sspo G A 6: 48,426,413 (GRCm39) W144* probably null Het
Taar6 A G 10: 23,860,970 (GRCm39) V192A probably benign Het
Tbc1d24 A T 17: 24,404,802 (GRCm39) V114E probably damaging Het
Trim16 T C 11: 62,711,530 (GRCm39) I67T probably benign Het
Ttll7 A G 3: 146,615,337 (GRCm39) D267G possibly damaging Het
Ttn T C 2: 76,720,073 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,447,016 (GRCm39) I379F probably damaging Het
Zfp14 T C 7: 29,737,510 (GRCm39) T492A probably damaging Het
Other mutations in Ccnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3413:Ccnb3 UTSW X 6,874,040 (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
Posted On 2013-06-21