Incidental Mutation 'IGL00497:Rb1'
ID 4158
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rb1
Ensembl Gene ENSMUSG00000022105
Gene Name RB transcriptional corepressor 1
Synonyms Rb-1, retinoblastoma 1, Rb, pRb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00497
Quality Score
Status
Chromosome 14
Chromosomal Location 73430298-73563446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 73502038 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 449 (R449H)
Ref Sequence ENSEMBL: ENSMUSP00000022701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022701]
AlphaFold P13405
Predicted Effect probably damaging
Transcript: ENSMUST00000022701
AA Change: R449H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: R449H

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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik G A 3: 79,538,598 (GRCm39) probably benign Het
Aatk C T 11: 119,901,012 (GRCm39) R1128Q probably benign Het
Acot6 C T 12: 84,156,212 (GRCm39) R387C probably damaging Het
Adam11 A G 11: 102,660,973 (GRCm39) E118G probably damaging Het
Adcyap1r1 G A 6: 55,449,264 (GRCm39) V73I probably damaging Het
Apol8 T C 15: 77,634,214 (GRCm39) T121A probably damaging Het
Bltp2 A G 11: 78,163,759 (GRCm39) N1076D probably damaging Het
Ccdc91 C A 6: 147,508,485 (GRCm39) Q404K unknown Het
Cpt1b T C 15: 89,306,496 (GRCm39) K294R probably benign Het
Dnah6 A C 6: 73,172,744 (GRCm39) V238G probably damaging Het
Dscaml1 T C 9: 45,663,536 (GRCm39) S1920P probably damaging Het
Gcfc2 A T 6: 81,934,951 (GRCm39) I737L probably benign Het
Gmeb1 A G 4: 131,955,296 (GRCm39) V293A probably benign Het
Gpi-ps T C 8: 5,690,563 (GRCm39) noncoding transcript Het
Hibch A G 1: 52,924,349 (GRCm39) probably benign Het
Ifnab A G 4: 88,609,419 (GRCm39) Y16H probably benign Het
Il17rc T C 6: 113,451,132 (GRCm39) V155A probably damaging Het
Lrr1 A G 12: 69,221,356 (GRCm39) H166R probably benign Het
Map4k5 G T 12: 69,892,506 (GRCm39) A141E probably damaging Het
Mettl17 A T 14: 52,126,292 (GRCm39) K233N probably damaging Het
Mon2 A G 10: 122,862,204 (GRCm39) L740S probably damaging Het
Mpdz A C 4: 81,253,979 (GRCm39) I1051S probably benign Het
Mroh8 A G 2: 157,058,834 (GRCm39) F944S probably damaging Het
Myh13 A G 11: 67,233,314 (GRCm39) Y611C probably damaging Het
Npat A G 9: 53,478,100 (GRCm39) N951D possibly damaging Het
Osmr T C 15: 6,876,547 (GRCm39) S126G probably benign Het
Parp14 T C 16: 35,655,206 (GRCm39) Y1755C probably damaging Het
Phf14 T C 6: 11,941,423 (GRCm39) probably benign Het
Prex2 T A 1: 11,256,876 (GRCm39) M1196K possibly damaging Het
Prkd1 A T 12: 50,430,264 (GRCm39) D614E probably damaging Het
Ptprm A G 17: 67,124,967 (GRCm39) L794P probably damaging Het
Scfd1 A G 12: 51,474,652 (GRCm39) D469G probably benign Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Sgo1 A G 17: 53,984,130 (GRCm39) probably benign Het
Slc11a1 A G 1: 74,421,057 (GRCm39) probably null Het
Snw1 A G 12: 87,499,350 (GRCm39) probably null Het
Stac3 T C 10: 127,339,533 (GRCm39) I143T probably damaging Het
Tcta A T 9: 108,183,115 (GRCm39) L10Q probably damaging Het
Tha1 T C 11: 117,761,831 (GRCm39) probably benign Het
Trmt1 T C 8: 85,422,138 (GRCm39) M254T possibly damaging Het
Trps1 T A 15: 50,524,703 (GRCm39) M887L possibly damaging Het
Zfyve28 A G 5: 34,400,539 (GRCm39) V53A probably damaging Het
Other mutations in Rb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00951:Rb1 APN 14 73,559,512 (GRCm39) missense probably damaging 1.00
IGL01152:Rb1 APN 14 73,443,310 (GRCm39) missense probably damaging 1.00
IGL01339:Rb1 APN 14 73,501,811 (GRCm39) critical splice acceptor site probably null
IGL01349:Rb1 APN 14 73,506,558 (GRCm39) missense probably damaging 1.00
IGL01390:Rb1 APN 14 73,532,439 (GRCm39) missense probably benign 0.02
IGL02066:Rb1 APN 14 73,435,974 (GRCm39) missense probably benign 0.06
IGL02207:Rb1 APN 14 73,443,525 (GRCm39) missense probably damaging 1.00
IGL02860:Rb1 APN 14 73,443,452 (GRCm39) missense probably damaging 1.00
IGL03370:Rb1 APN 14 73,520,306 (GRCm39) critical splice donor site probably null
rubidium UTSW 14 73,436,751 (GRCm39) missense probably damaging 1.00
P0028:Rb1 UTSW 14 73,502,068 (GRCm39) missense probably damaging 1.00
R0553:Rb1 UTSW 14 73,449,152 (GRCm39) nonsense probably null
R0563:Rb1 UTSW 14 73,454,207 (GRCm39) missense probably damaging 1.00
R0586:Rb1 UTSW 14 73,525,124 (GRCm39) intron probably benign
R0595:Rb1 UTSW 14 73,511,120 (GRCm39) missense probably damaging 1.00
R0755:Rb1 UTSW 14 73,434,653 (GRCm39) makesense probably null
R1480:Rb1 UTSW 14 73,500,042 (GRCm39) missense probably benign
R1513:Rb1 UTSW 14 73,559,524 (GRCm39) missense probably benign 0.00
R1752:Rb1 UTSW 14 73,525,064 (GRCm39) missense probably damaging 0.99
R1919:Rb1 UTSW 14 73,450,430 (GRCm39) nonsense probably null
R2010:Rb1 UTSW 14 73,532,433 (GRCm39) missense probably benign 0.16
R2087:Rb1 UTSW 14 73,517,692 (GRCm39) missense probably benign 0.09
R2152:Rb1 UTSW 14 73,526,165 (GRCm39) missense probably benign
R2167:Rb1 UTSW 14 73,449,091 (GRCm39) missense probably damaging 1.00
R3950:Rb1 UTSW 14 73,500,102 (GRCm39) missense probably damaging 1.00
R4183:Rb1 UTSW 14 73,435,966 (GRCm39) splice site probably null
R4225:Rb1 UTSW 14 73,506,631 (GRCm39) missense possibly damaging 0.58
R4306:Rb1 UTSW 14 73,500,135 (GRCm39) missense probably damaging 1.00
R4464:Rb1 UTSW 14 73,436,638 (GRCm39) splice site probably null
R4609:Rb1 UTSW 14 73,499,954 (GRCm39) splice site probably benign
R4671:Rb1 UTSW 14 73,511,116 (GRCm39) missense probably damaging 1.00
R4916:Rb1 UTSW 14 73,454,131 (GRCm39) missense probably damaging 1.00
R5160:Rb1 UTSW 14 73,501,895 (GRCm39) synonymous silent
R5210:Rb1 UTSW 14 73,436,751 (GRCm39) missense probably damaging 1.00
R5320:Rb1 UTSW 14 73,450,566 (GRCm39) nonsense probably null
R5436:Rb1 UTSW 14 73,450,580 (GRCm39) splice site probably null
R5467:Rb1 UTSW 14 73,449,060 (GRCm39) missense possibly damaging 0.92
R5592:Rb1 UTSW 14 73,449,187 (GRCm39) missense probably damaging 1.00
R6326:Rb1 UTSW 14 73,435,974 (GRCm39) missense probably benign 0.06
R6363:Rb1 UTSW 14 73,525,081 (GRCm39) missense probably benign 0.01
R6395:Rb1 UTSW 14 73,436,636 (GRCm39) missense probably damaging 1.00
R6414:Rb1 UTSW 14 73,520,414 (GRCm39) missense unknown
R6460:Rb1 UTSW 14 73,515,894 (GRCm39) missense probably benign 0.06
R6503:Rb1 UTSW 14 73,443,320 (GRCm39) missense probably benign 0.08
R6519:Rb1 UTSW 14 73,535,503 (GRCm39) missense probably benign 0.00
R6671:Rb1 UTSW 14 73,434,706 (GRCm39) missense probably damaging 1.00
R7026:Rb1 UTSW 14 73,535,539 (GRCm39) missense probably benign 0.00
R7103:Rb1 UTSW 14 73,500,084 (GRCm39) missense probably damaging 1.00
R7263:Rb1 UTSW 14 73,520,363 (GRCm39) nonsense probably null
R7478:Rb1 UTSW 14 73,506,577 (GRCm39) missense probably damaging 1.00
R7519:Rb1 UTSW 14 73,502,048 (GRCm39) missense probably damaging 1.00
R7817:Rb1 UTSW 14 73,435,983 (GRCm39) missense probably damaging 1.00
R8323:Rb1 UTSW 14 73,503,023 (GRCm39) missense probably benign 0.09
R8809:Rb1 UTSW 14 73,503,000 (GRCm39) missense probably damaging 1.00
R8813:Rb1 UTSW 14 73,500,027 (GRCm39) missense probably damaging 0.96
R8849:Rb1 UTSW 14 73,434,709 (GRCm39) missense probably damaging 1.00
R9272:Rb1 UTSW 14 73,517,602 (GRCm39) missense possibly damaging 0.85
R9482:Rb1 UTSW 14 73,443,493 (GRCm39) missense probably damaging 1.00
R9606:Rb1 UTSW 14 73,517,573 (GRCm39) missense probably damaging 0.98
Posted On 2012-04-20