Incidental Mutation 'IGL01060:Ccnb3'
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ID53314
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnb3
Ensembl Gene ENSMUSG00000051592
Gene Namecyclin B3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #IGL01060
Quality Score
Status
ChromosomeX
Chromosomal Location6979652-7041619 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6980274 bp
ZygosityHeterozygous
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]
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: 76,950,275 V124I probably damaging Het
Anks4b A G 7: 120,173,925 T3A possibly damaging Het
Arhgef26 T A 3: 62,340,121 S209T probably benign Het
Ccdc78 A G 17: 25,788,832 D281G probably damaging Het
Dnah2 T C 11: 69,478,092 N1662S possibly damaging Het
Ern2 T A 7: 122,170,092 R904W probably damaging Het
Fam120c C T X: 151,469,587 P1045S probably benign Het
Gm12887 C T 4: 121,616,413 probably benign Het
Gpld1 G A 13: 24,982,566 G627S probably damaging Het
Ikbkap C T 4: 56,784,537 probably null Het
Krt77 T A 15: 101,860,880 probably benign Het
Ltf A T 9: 111,022,882 probably null Het
Map3k6 G T 4: 133,247,302 probably null Het
Nsd1 G A 13: 55,263,429 G1431D probably damaging Het
Plekhm2 C T 4: 141,642,645 probably null Het
Popdc2 T A 16: 38,373,965 N249K probably damaging Het
Ppm1h A G 10: 122,907,571 D400G possibly damaging Het
Rps6ka1 A T 4: 133,860,870 S320T probably damaging Het
Rsph6a C T 7: 19,054,868 R42* probably null Het
Sap130 T C 18: 31,715,443 L967P probably damaging Het
Smyd2 T C 1: 189,897,470 E121G possibly damaging Het
Sspo G A 6: 48,449,479 W144* probably null Het
Taar6 A G 10: 23,985,072 V192A probably benign Het
Tbc1d24 A T 17: 24,185,828 V114E probably damaging Het
Trim16 T C 11: 62,820,704 I67T probably benign Het
Ttll7 A G 3: 146,909,582 D267G possibly damaging Het
Ttn T C 2: 76,889,729 probably benign Het
Vmn2r56 T A 7: 12,713,089 I379F probably damaging Het
Zfp14 T C 7: 30,038,085 T492A probably damaging Het
Other mutations in Ccnb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3413:Ccnb3 UTSW X 7007801 missense probably benign 0.28
R4541:Ccnb3 UTSW X 7009069 missense probably benign
X0020:Ccnb3 UTSW X 7007226 missense probably benign 0.40
X0024:Ccnb3 UTSW X 7009835 missense probably benign
Z1176:Ccnb3 UTSW X 7009375 missense possibly damaging 0.91
Posted On2013-06-21