Incidental Mutation 'R6395:Rb1'
ID 514746
Institutional Source Beutler Lab
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 # R6395 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 73430298-73563446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73436636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 876 (D876E)
Ref Sequence ENSEMBL: ENSMUSP00000022701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000171767]
AlphaFold P13405
Predicted Effect probably damaging
Transcript: ENSMUST00000022701
AA Change: D876E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: D876E

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: ENSMUST00000168495
Predicted Effect probably benign
Transcript: ENSMUST00000171767
SMART Domains Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106

DomainStartEndE-ValueType
Pfam:RCC1 117 167 1.7e-16 PFAM
Pfam:RCC1_2 154 183 4.9e-15 PFAM
Pfam:RCC1 170 220 8.4e-16 PFAM
Pfam:RCC1 223 272 5.5e-18 PFAM
Pfam:RCC1_2 259 288 1.7e-11 PFAM
Pfam:RCC1 275 324 6.8e-14 PFAM
BTB 394 487 2.69e-21 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.6%
  • 20x: 98.3%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actc1 C A 2: 113,879,731 (GRCm39) E243* probably null Het
Ahi1 T C 10: 20,855,491 (GRCm39) I600T possibly damaging Het
Apob A G 12: 8,058,507 (GRCm39) T2330A probably benign Het
Cabin1 A T 10: 75,582,576 (GRCm39) M280K probably benign Het
Ccdc117 T C 11: 5,484,762 (GRCm39) probably null Het
Cct8 G T 16: 87,283,364 (GRCm39) Y292* probably null Het
Celf1 A G 2: 90,834,203 (GRCm39) I165V probably benign Het
Cenpc1 A T 5: 86,183,429 (GRCm39) N453K probably benign Het
Chst10 T C 1: 38,910,770 (GRCm39) I131M probably damaging Het
Cltc A G 11: 86,616,006 (GRCm39) I420T probably damaging Het
Cspg4b T G 13: 113,506,003 (GRCm39) C2377W probably damaging Het
Dact3 A C 7: 16,617,086 (GRCm39) Q95P probably damaging Het
Dennd2c T C 3: 103,056,540 (GRCm39) probably null Het
Dock2 G T 11: 34,182,874 (GRCm39) H1586Q probably damaging Het
Dst T C 1: 34,221,771 (GRCm39) M2525T probably benign Het
Egflam T C 15: 7,261,176 (GRCm39) H786R probably damaging Het
Eml6 T C 11: 29,759,321 (GRCm39) T811A probably benign Het
Epha1 T C 6: 42,343,106 (GRCm39) T148A probably damaging Het
Fsip1 A C 2: 118,067,406 (GRCm39) S306A probably damaging Het
Gga2 A T 7: 121,607,661 (GRCm39) probably null Het
Gm10801 C CGTT 2: 98,494,152 (GRCm39) probably benign Het
Gm9837 T A 11: 53,360,885 (GRCm39) probably benign Het
Gnl2 A T 4: 124,940,058 (GRCm39) Q310L probably damaging Het
H2-M1 T C 17: 36,982,701 (GRCm39) D53G probably benign Het
Hmcn2 T A 2: 31,259,269 (GRCm39) D1036E probably damaging Het
Htr3a A T 9: 48,811,871 (GRCm39) D381E probably benign Het
Igdcc4 G A 9: 65,042,400 (GRCm39) G106R probably damaging Het
Igfbp2 A G 1: 72,864,078 (GRCm39) T114A probably damaging Het
Ints14 A G 9: 64,885,406 (GRCm39) probably null Het
Kcnt1 T A 2: 25,799,251 (GRCm39) M906K possibly damaging Het
Kif13a C T 13: 46,905,931 (GRCm39) V671M possibly damaging Het
Lars2 A G 9: 123,200,990 (GRCm39) Q18R probably benign Het
Mndal C T 1: 173,698,999 (GRCm39) C222Y possibly damaging Het
Msto1 C T 3: 88,812,781 (GRCm39) A1854V possibly damaging Het
Musk G A 4: 58,286,169 (GRCm39) G20R probably benign Het
Or6c215 G T 10: 129,638,013 (GRCm39) P127Q probably damaging Het
Oxct1 G T 15: 4,056,309 (GRCm39) S19I possibly damaging Het
Papss2 G A 19: 32,641,876 (GRCm39) G517D probably damaging Het
Parp14 T C 16: 35,676,918 (GRCm39) S1017G probably benign Het
Pde2a A G 7: 101,150,242 (GRCm39) Q227R probably benign Het
Pdlim5 G T 3: 142,020,183 (GRCm39) P92Q probably damaging Het
Pkd1l3 C T 8: 110,350,595 (GRCm39) T480I probably benign Het
Pla2g4c C T 7: 13,077,933 (GRCm39) T357I probably benign Het
Ppp3ca A G 3: 136,583,531 (GRCm39) R213G possibly damaging Het
Pramel18 G A 4: 101,767,189 (GRCm39) R146H probably benign Het
Prrc1 C T 18: 57,495,619 (GRCm39) S32L probably null Het
Prss47 C T 13: 65,197,116 (GRCm39) V207I probably benign Het
Prtg G A 9: 72,819,414 (GRCm39) V1136I possibly damaging Het
Psmb8 T A 17: 34,418,265 (GRCm39) M69K possibly damaging Het
Rnasel T C 1: 153,637,867 (GRCm39) M680T probably damaging Het
Rnf111 G T 9: 70,383,692 (GRCm39) N80K possibly damaging Het
Senp1 C T 15: 97,946,074 (GRCm39) C557Y probably damaging Het
Serpina3a A T 12: 104,082,710 (GRCm39) Y161F probably damaging Het
Serpinb11 A T 1: 107,299,781 (GRCm39) probably null Het
Sgpl1 C A 10: 60,947,936 (GRCm39) probably null Het
Slc37a4 A G 9: 44,310,576 (GRCm39) Y60C probably damaging Het
Slc38a10 A G 11: 120,015,208 (GRCm39) S381P probably benign Het
Slc5a7 C T 17: 54,585,849 (GRCm39) V323I probably damaging Het
Slco1a7 T A 6: 141,668,818 (GRCm39) probably null Het
Smarcal1 A T 1: 72,655,716 (GRCm39) E665V possibly damaging Het
Specc1 C A 11: 62,023,164 (GRCm39) N736K probably damaging Het
Tas2r121 T C 6: 132,677,495 (GRCm39) Y159C probably benign Het
Tex54 A G 19: 8,718,462 (GRCm39) D68G probably benign Het
Trank1 A G 9: 111,196,268 (GRCm39) I1431V probably damaging Het
Ttll6 T C 11: 96,047,414 (GRCm39) V671A probably benign Het
Ttn A T 2: 76,748,931 (GRCm39) probably benign Het
Uimc1 T C 13: 55,188,389 (GRCm39) T557A possibly damaging Het
Uri1 C A 7: 37,661,974 (GRCm39) V446L probably benign Het
Vpreb1b C T 16: 17,798,771 (GRCm39) R86C probably damaging Het
Vwa8 A G 14: 79,331,184 (GRCm39) K1231E probably benign Het
Xcr1 G A 9: 123,684,854 (GRCm39) R303C probably damaging Het
Zfp619 C A 7: 39,186,454 (GRCm39) A828E possibly damaging Het
Zfp687 T C 3: 94,915,049 (GRCm39) S1151G possibly damaging Het
Other mutations in Rb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Rb1 APN 14 73,502,038 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- CCACTGTACCACTTTACACTTAGTATG -3'
(R):5'- CTGCTGACTTCAAAATGTGGC -3'

Sequencing Primer
(F):5'- CAAGGTCTCACTATATAGCTGTGGC -3'
(R):5'- GACTTCAAAATGTGGCTATTTAATGG -3'
Posted On 2018-05-04