Incidental Mutation 'R9769:Ccnb1'
ID 733404
Institutional Source Beutler Lab
Gene Symbol Ccnb1
Ensembl Gene ENSMUSG00000041431
Gene Name cyclin B1
Synonyms Ccnb1-rs13, Cycb-4
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9769 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100915247-100922994 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100917393 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 322 (Y322C)
Ref Sequence ENSEMBL: ENSMUSP00000071989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072119] [ENSMUST00000075550] [ENSMUST00000091295] [ENSMUST00000174038]
AlphaFold P24860
Predicted Effect probably damaging
Transcript: ENSMUST00000072119
AA Change: Y322C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: Y322C

DomainStartEndE-ValueType
low complexity region 80 110 N/A INTRINSIC
low complexity region 149 160 N/A INTRINSIC
CYCLIN 204 288 3.88e-26 SMART
Cyclin_C 297 415 4.18e-37 SMART
CYCLIN 301 382 3.65e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075550
SMART Domains Protein: ENSMUSP00000074988
Gene: ENSMUSG00000045273

DomainStartEndE-ValueType
coiled coil region 63 101 N/A INTRINSIC
Pfam:CENP-H 133 233 1.3e-27 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000091295
AA Change: Y261C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431
AA Change: Y261C

DomainStartEndE-ValueType
low complexity region 80 110 N/A INTRINSIC
CYCLIN 143 227 3.88e-26 SMART
Cyclin_C 236 354 4.18e-37 SMART
CYCLIN 240 321 3.65e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000174038
AA Change: Y322C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: Y322C

DomainStartEndE-ValueType
low complexity region 80 110 N/A INTRINSIC
low complexity region 149 160 N/A INTRINSIC
CYCLIN 204 288 3.88e-26 SMART
Cyclin_C 297 378 3.18e-10 SMART
CYCLIN 301 384 8.4e-13 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.4%
  • 20x: 98.4%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutation of this gene is embryonic lethal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 A T 15: 94,251,459 (GRCm39) C443S probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Atp13a5 T A 16: 29,167,513 (GRCm39) K146* probably null Het
Atxn2l A T 7: 126,095,692 (GRCm39) I481N probably benign Het
Cacna1i A T 15: 80,253,793 (GRCm39) I677F probably damaging Het
Cenpk C T 13: 104,381,810 (GRCm39) Q245* probably null Het
D6Ertd527e G C 6: 87,088,839 (GRCm39) S334T unknown Het
Kel C T 6: 41,678,990 (GRCm39) G158R probably damaging Het
Klhl28 A G 12: 64,998,330 (GRCm39) V388A probably benign Het
Macc1 A G 12: 119,407,241 (GRCm39) K33E probably benign Het
Mup15 T A 4: 61,356,528 (GRCm39) D79V possibly damaging Het
Nbeal2 C A 9: 110,455,347 (GRCm39) V2549L probably benign Het
Ogfod3 T C 11: 121,074,357 (GRCm39) T231A probably damaging Het
Or2t35 C T 14: 14,407,929 (GRCm38) R234W probably damaging Het
Or56b35 A G 7: 104,963,933 (GRCm39) K241E probably damaging Het
Pramel1 T C 4: 143,125,110 (GRCm39) S345P possibly damaging Het
Sdr16c6 T A 4: 4,076,893 (GRCm39) N2I probably benign Het
Slc10a4 A G 5: 73,164,423 (GRCm39) D5G unknown Het
Slc35f3 A G 8: 127,121,336 (GRCm39) E399G probably damaging Het
Trim43b G A 9: 88,967,458 (GRCm39) H393Y possibly damaging Het
Vmn1r88 A G 7: 12,912,280 (GRCm39) H212R probably damaging Het
Vmn2r80 A G 10: 79,005,443 (GRCm39) Y360C probably damaging Het
Other mutations in Ccnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Ccnb1 APN 13 100,922,419 (GRCm39) splice site probably benign
IGL01775:Ccnb1 APN 13 100,920,017 (GRCm39) missense probably benign 0.36
IGL01874:Ccnb1 APN 13 100,920,001 (GRCm39) missense probably damaging 1.00
IGL02108:Ccnb1 APN 13 100,917,665 (GRCm39) critical splice donor site probably null
IGL02170:Ccnb1 APN 13 100,919,994 (GRCm39) nonsense probably null
IGL02372:Ccnb1 APN 13 100,917,824 (GRCm39) missense probably damaging 1.00
IGL02755:Ccnb1 APN 13 100,918,168 (GRCm39) missense possibly damaging 0.89
IGL03142:Ccnb1 APN 13 100,920,039 (GRCm39) missense probably damaging 1.00
R0025:Ccnb1 UTSW 13 100,916,289 (GRCm39) missense probably damaging 1.00
R0499:Ccnb1 UTSW 13 100,916,642 (GRCm39) critical splice acceptor site probably null
R2249:Ccnb1 UTSW 13 100,917,827 (GRCm39) missense possibly damaging 0.79
R3108:Ccnb1 UTSW 13 100,918,132 (GRCm39) critical splice donor site probably null
R4934:Ccnb1 UTSW 13 100,918,209 (GRCm39) missense possibly damaging 0.49
R5126:Ccnb1 UTSW 13 100,918,283 (GRCm39) missense possibly damaging 0.88
R5127:Ccnb1 UTSW 13 100,918,283 (GRCm39) missense possibly damaging 0.88
R5180:Ccnb1 UTSW 13 100,918,283 (GRCm39) missense possibly damaging 0.88
R5181:Ccnb1 UTSW 13 100,918,283 (GRCm39) missense possibly damaging 0.88
R5325:Ccnb1 UTSW 13 100,918,283 (GRCm39) missense possibly damaging 0.88
R7024:Ccnb1 UTSW 13 100,922,888 (GRCm39) critical splice donor site probably null
R7583:Ccnb1 UTSW 13 100,916,262 (GRCm39) missense probably benign 0.06
R7632:Ccnb1 UTSW 13 100,918,209 (GRCm39) missense probably benign 0.32
R7833:Ccnb1 UTSW 13 100,917,859 (GRCm39) missense probably damaging 1.00
R9634:Ccnb1 UTSW 13 100,920,112 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TTAGCTACAGCACTGAGATGG -3'
(R):5'- AATAAGGCTGCTGACCTAACTAC -3'

Sequencing Primer
(F):5'- CTTCCATATTAGGACCCAGGAGAGTG -3'
(R):5'- GGCTGCTGACCTAACTACATATTACG -3'
Posted On 2022-11-14