Incidental Mutation 'IGL01349:Rb1'
ID75274
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rb1
Ensembl Gene ENSMUSG00000022105
Gene NameRB transcriptional corepressor 1
SynonymsRb-1, Rb, pRb
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01349
Quality Score
Status
Chromosome14
Chromosomal Location73183673-73325822 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73269118 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 397 (Y397C)
Ref Sequence ENSEMBL: ENSMUSP00000022701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022701]
Predicted Effect probably damaging
Transcript: ENSMUST00000022701
AA Change: Y397C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: Y397C

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
low complexity region 37 53 N/A INTRINSIC
DUF3452 97 223 4.59e-25 SMART
RB_A 367 567 5.53e-92 SMART
CYCLIN 653 740 1.62e-5 SMART
Rb_C 761 920 1.28e-96 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163932
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169002
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 is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,292,076 S1313L probably benign Het
Adam28 T C 14: 68,611,006 H667R probably benign Het
Arap1 T C 7: 101,387,152 V382A possibly damaging Het
Arih2 T C 9: 108,605,410 Y444C probably damaging Het
Asxl3 T G 18: 22,524,237 V1768G probably benign Het
Bbs9 T A 9: 22,887,683 M869K probably benign Het
C4bp A G 1: 130,642,928 probably benign Het
Cc2d2a A T 5: 43,723,784 Y1167F probably benign Het
Cgn T A 3: 94,767,176 K884* probably null Het
Chd1l T C 3: 97,591,234 Y283C probably benign Het
Cry1 A G 10: 85,148,739 V157A probably benign Het
Dcc T A 18: 71,370,737 D950V probably damaging Het
Dlc1 A G 8: 36,583,824 F918L probably damaging Het
Dnah2 T C 11: 69,475,606 N1890S probably damaging Het
Dnah5 A G 15: 28,294,913 probably benign Het
Eif4b C T 15: 102,091,423 T412I probably benign Het
Eloa A C 4: 136,014,447 Y29D probably benign Het
Erbb4 A G 1: 68,346,593 F279S probably benign Het
Etl4 A G 2: 20,713,396 D316G probably damaging Het
Gm5114 T C 7: 39,409,107 S363G probably benign Het
Gpam A G 19: 55,096,119 probably null Het
Il17rd T A 14: 27,095,944 S197T probably damaging Het
Iqsec3 T C 6: 121,473,124 E147G possibly damaging Het
Itk T A 11: 46,341,200 T303S possibly damaging Het
Kcnh6 A G 11: 106,023,917 D716G possibly damaging Het
Lca5 A G 9: 83,426,617 S59P probably damaging Het
Lrrc40 T C 3: 158,058,665 probably benign Het
Mmp7 T C 9: 7,699,334 probably benign Het
Mycbp2 T C 14: 103,122,547 T4427A probably damaging Het
Nf2 T C 11: 4,784,472 D513G possibly damaging Het
Olfr10 T A 11: 49,318,300 Y251* probably null Het
Pde7a C T 3: 19,229,679 probably benign Het
Pira2 T C 7: 3,844,139 T135A probably damaging Het
Ros1 A T 10: 52,051,026 M2187K probably damaging Het
Ryr2 T A 13: 11,587,239 I4586F possibly damaging Het
Serpinb3c A T 1: 107,272,783 M210K probably damaging Het
Slc22a19 C A 19: 7,674,427 V472F probably benign Het
Slc4a11 A G 2: 130,686,943 I462T probably benign Het
Spag11b A T 8: 19,141,476 H55L probably damaging Het
Trpv5 G T 6: 41,675,375 N125K possibly damaging Het
Ubr4 G T 4: 139,480,728 R4940L unknown Het
Vcan T A 13: 89,703,943 H966L probably damaging Het
Vmn1r204 T A 13: 22,556,334 I45K probably damaging Het
Vnn3 A T 10: 23,851,916 I75F probably damaging Het
Vps13b A T 15: 35,793,945 M2256L probably benign Het
Zfc3h1 T A 10: 115,423,448 L1642M probably damaging Het
Other mutations in Rb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Rb1 APN 14 73264598 missense probably damaging 1.00
IGL00951:Rb1 APN 14 73322072 missense probably damaging 1.00
IGL01152:Rb1 APN 14 73205870 missense probably damaging 1.00
IGL01339:Rb1 APN 14 73264371 critical splice acceptor site probably null
IGL01390:Rb1 APN 14 73294999 missense probably benign 0.02
IGL02066:Rb1 APN 14 73198534 missense probably benign 0.06
IGL02207:Rb1 APN 14 73206085 missense probably damaging 1.00
IGL02860:Rb1 APN 14 73206012 missense probably damaging 1.00
IGL03370:Rb1 APN 14 73282866 critical splice donor site probably null
rubidium UTSW 14 73199311 missense probably damaging 1.00
P0028:Rb1 UTSW 14 73264628 missense probably damaging 1.00
R0553:Rb1 UTSW 14 73211712 nonsense probably null
R0563:Rb1 UTSW 14 73216767 missense probably damaging 1.00
R0586:Rb1 UTSW 14 73287684 intron probably benign
R0595:Rb1 UTSW 14 73273680 missense probably damaging 1.00
R0755:Rb1 UTSW 14 73197213 makesense probably null
R1480:Rb1 UTSW 14 73262602 missense probably benign
R1513:Rb1 UTSW 14 73322084 missense probably benign 0.00
R1752:Rb1 UTSW 14 73287624 missense probably damaging 0.99
R1919:Rb1 UTSW 14 73212990 nonsense probably null
R2010:Rb1 UTSW 14 73294993 missense probably benign 0.16
R2087:Rb1 UTSW 14 73280252 missense probably benign 0.09
R2152:Rb1 UTSW 14 73288725 missense probably benign
R2167:Rb1 UTSW 14 73211651 missense probably damaging 1.00
R3950:Rb1 UTSW 14 73262662 missense probably damaging 1.00
R4183:Rb1 UTSW 14 73198526 splice site probably null
R4225:Rb1 UTSW 14 73269191 missense possibly damaging 0.58
R4306:Rb1 UTSW 14 73262695 missense probably damaging 1.00
R4464:Rb1 UTSW 14 73199198 intron probably null
R4609:Rb1 UTSW 14 73262514 splice site probably benign
R4671:Rb1 UTSW 14 73273676 missense probably damaging 1.00
R4916:Rb1 UTSW 14 73216691 missense probably damaging 1.00
R5160:Rb1 UTSW 14 73264455 synonymous silent
R5210:Rb1 UTSW 14 73199311 missense probably damaging 1.00
R5320:Rb1 UTSW 14 73213126 nonsense probably null
R5436:Rb1 UTSW 14 73213140 splice site probably null
R5467:Rb1 UTSW 14 73211620 missense possibly damaging 0.92
R5592:Rb1 UTSW 14 73211747 missense probably damaging 1.00
R6326:Rb1 UTSW 14 73198534 missense probably benign 0.06
R6363:Rb1 UTSW 14 73287641 missense probably benign 0.01
R6395:Rb1 UTSW 14 73199196 missense probably damaging 1.00
R6414:Rb1 UTSW 14 73282974 missense unknown
R6460:Rb1 UTSW 14 73278454 missense probably benign 0.06
R6503:Rb1 UTSW 14 73205880 missense probably benign 0.08
R6519:Rb1 UTSW 14 73298063 missense probably benign 0.00
R6671:Rb1 UTSW 14 73197266 missense probably damaging 1.00
R7026:Rb1 UTSW 14 73298099 missense probably benign 0.00
R7103:Rb1 UTSW 14 73262644 missense probably damaging 1.00
R7263:Rb1 UTSW 14 73282923 nonsense probably null
Posted On2013-10-07