Incidental Mutation 'IGL02372:Ccnb1'
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ID290975
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnb1
Ensembl Gene ENSMUSG00000041431
Gene Namecyclin B1
SynonymsCcnb1-rs13, Cycb-4
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02372
Quality Score
Status
Chromosome13
Chromosomal Location100778650-100786570 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 100781316 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 259 (Y259H)
Ref Sequence ENSEMBL: ENSMUSP00000071989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072119] [ENSMUST00000091295] [ENSMUST00000174038]
Predicted Effect probably damaging
Transcript: ENSMUST00000072119
AA Change: Y259H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071989
Gene: ENSMUSG00000041431
AA Change: Y259H

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 damaging
Transcript: ENSMUST00000091295
AA Change: Y198H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000088841
Gene: ENSMUSG00000041431
AA Change: Y198H

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: Y259H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000133962
Gene: ENSMUSG00000041431
AA Change: Y259H

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A T 11: 97,775,699 Y54N probably damaging Het
Alyref A G 11: 120,594,875 probably benign Het
Ankrd27 A G 7: 35,633,036 probably null Het
Arc A G 15: 74,672,105 S90P probably damaging Het
Atp6v1e1 T A 6: 120,801,123 K150N probably benign Het
Atrn T C 2: 131,002,754 probably benign Het
Celsr1 A G 15: 85,929,907 V1938A probably benign Het
Ckmt2 A G 13: 91,865,224 V37A probably benign Het
Dpys G T 15: 39,793,271 P467T probably benign Het
Ehbp1l1 T C 19: 5,710,834 T1535A possibly damaging Het
Eif4enif1 T C 11: 3,229,986 L302P probably benign Het
Faf1 T G 4: 109,935,582 F584V probably benign Het
Glb1l2 G A 9: 26,796,476 R72C probably damaging Het
Gm9892 T C 8: 52,196,836 noncoding transcript Het
Hecw1 G T 13: 14,264,121 D892E probably damaging Het
Hr A G 14: 70,558,350 E474G possibly damaging Het
Ltbp1 T G 17: 75,252,406 F297V probably damaging Het
Myc A G 15: 61,987,858 N127D probably damaging Het
Nbn T A 4: 15,986,613 N671K probably benign Het
Nup210l C A 3: 90,201,971 T1607N possibly damaging Het
Olfr281 A T 15: 98,456,828 T173S probably damaging Het
Osbpl1a T A 18: 12,841,313 K22* probably null Het
Phf20l1 T C 15: 66,641,801 L942P probably damaging Het
Plekhg5 C T 4: 152,102,080 R40W probably damaging Het
Pomt2 C T 12: 87,122,835 probably benign Het
Rab3gap1 A G 1: 127,919,561 probably benign Het
Sbk1 T C 7: 126,291,058 L81P probably damaging Het
Scrib G A 15: 76,048,255 P1524S probably damaging Het
Smpdl3a T A 10: 57,807,515 N240K probably benign Het
Smyd4 A T 11: 75,390,285 K195* probably null Het
Tulp3 A T 6: 128,327,598 M231K possibly damaging Het
Zfp87 A G 13: 67,520,620 probably benign Het
Other mutations in Ccnb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00897:Ccnb1 APN 13 100785911 splice site probably benign
IGL01775:Ccnb1 APN 13 100783509 missense probably benign 0.36
IGL01874:Ccnb1 APN 13 100783493 missense probably damaging 1.00
IGL02108:Ccnb1 APN 13 100781157 critical splice donor site probably null
IGL02170:Ccnb1 APN 13 100783486 nonsense probably null
IGL02755:Ccnb1 APN 13 100781660 missense possibly damaging 0.89
IGL03142:Ccnb1 APN 13 100783531 missense probably damaging 1.00
R0025:Ccnb1 UTSW 13 100779781 missense probably damaging 1.00
R0499:Ccnb1 UTSW 13 100780134 critical splice acceptor site probably null
R2249:Ccnb1 UTSW 13 100781319 missense possibly damaging 0.79
R3108:Ccnb1 UTSW 13 100781624 critical splice donor site probably null
R4934:Ccnb1 UTSW 13 100781701 missense possibly damaging 0.49
R5126:Ccnb1 UTSW 13 100781775 missense possibly damaging 0.88
R5127:Ccnb1 UTSW 13 100781775 missense possibly damaging 0.88
R5180:Ccnb1 UTSW 13 100781775 missense possibly damaging 0.88
R5181:Ccnb1 UTSW 13 100781775 missense possibly damaging 0.88
R5325:Ccnb1 UTSW 13 100781775 missense possibly damaging 0.88
R7024:Ccnb1 UTSW 13 100786380 critical splice donor site probably null
R7583:Ccnb1 UTSW 13 100779754 missense probably benign 0.06
R7632:Ccnb1 UTSW 13 100781701 missense probably benign 0.32
R7833:Ccnb1 UTSW 13 100781351 missense probably damaging 1.00
Posted On2015-04-16