Incidental Mutation 'IGL03142:Ccnb1'
ID 410723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnb1
Ensembl Gene ENSMUSG00000041431
Gene Name cyclin B1
Synonyms Ccnb1-rs13, Cycb-4
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03142
Quality Score
Status
Chromosome 13
Chromosomal Location 100915247-100922994 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100920039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 157 (D157E)
Ref Sequence ENSEMBL: ENSMUSP00000133962 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072119] [ENSMUST00000091295] [ENSMUST00000174038]
AlphaFold P24860
Predicted Effect probably damaging
Transcript: ENSMUST00000072119
AA Change: D157E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: D157E

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: ENSMUST00000091295
SMART Domains Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431

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 noncoding transcript
Transcript: ENSMUST00000128279
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134080
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142056
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147790
Predicted Effect probably damaging
Transcript: ENSMUST00000174038
AA Change: D157E

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: D157E

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc88c T C 12: 100,913,457 (GRCm39) S523G probably damaging Het
Cep43 T A 17: 8,411,041 (GRCm39) S331R probably damaging Het
Cfap70 T C 14: 20,447,283 (GRCm39) T1055A probably damaging Het
Fn1 C A 1: 71,676,455 (GRCm39) R592L probably damaging Het
Frmpd4 T A X: 166,262,479 (GRCm39) D550V possibly damaging Het
Gcm2 A G 13: 41,256,711 (GRCm39) V346A probably benign Het
Gm10112 C T X: 110,209,673 (GRCm39) T4I probably damaging Het
Gm3115 T C 14: 4,084,302 (GRCm38) probably benign Het
Has2 A T 15: 56,545,491 (GRCm39) I37N possibly damaging Het
Hmgn3 A G 9: 83,028,482 (GRCm39) probably benign Het
Klhl29 T A 12: 5,187,603 (GRCm39) N254Y probably damaging Het
Kti12 A G 4: 108,705,362 (GRCm39) Y92C probably damaging Het
Lyset G A 12: 102,710,933 (GRCm39) S52N probably damaging Het
Mgat5 A C 1: 127,339,960 (GRCm39) Q447P probably damaging Het
Mlh3 C A 12: 85,297,075 (GRCm39) probably null Het
Mrpl45 T C 11: 97,206,751 (GRCm39) W18R probably benign Het
Mtor A G 4: 148,538,356 (GRCm39) D138G probably benign Het
Mycbp2 C T 14: 103,536,212 (GRCm39) C246Y probably damaging Het
Mylk4 A T 13: 32,904,582 (GRCm39) V415E probably damaging Het
Olfm3 A T 3: 114,890,679 (GRCm39) Q124L probably damaging Het
Or4d11 A T 19: 12,013,752 (GRCm39) M118K probably damaging Het
Pam C T 1: 97,822,111 (GRCm39) G298R probably damaging Het
Pappa2 A C 1: 158,682,501 (GRCm39) I849R probably damaging Het
Pde3a T A 6: 141,438,025 (GRCm39) D1031E probably benign Het
Pik3cb A T 9: 98,947,615 (GRCm39) S521T probably benign Het
Pkn1 A G 8: 84,397,652 (GRCm39) F824L possibly damaging Het
Pspn C T 17: 57,306,566 (GRCm39) R121Q probably benign Het
Ric1 A G 19: 29,578,380 (GRCm39) D1195G possibly damaging Het
Sin3b A G 8: 73,471,196 (GRCm39) D381G probably damaging Het
Slc37a3 T C 6: 39,336,919 (GRCm39) probably null Het
Smtn T A 11: 3,482,601 (GRCm39) K124* probably null Het
Tbce A G 13: 14,194,449 (GRCm39) V70A possibly damaging Het
Tti1 A G 2: 157,842,597 (GRCm39) Y811H probably damaging Het
Uggt2 T C 14: 119,235,603 (GRCm39) Y1424C probably damaging Het
Upf1 A G 8: 70,785,977 (GRCm39) V994A probably benign Het
Vmn2r121 T C X: 123,042,635 (GRCm39) D174G possibly 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
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
R9769:Ccnb1 UTSW 13 100,917,393 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02