Incidental Mutation 'R4609:Rb1'
ID 344546
Institutional Source Beutler Lab
Gene Symbol Rb1
Ensembl Gene ENSMUSG00000022105
Gene Name RB transcriptional corepressor 1
Synonyms Rb-1, retinoblastoma 1, Rb, pRb
MMRRC Submission 041820-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4609 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 73430298-73563446 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 73499954 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022701]
AlphaFold P13405
Predicted Effect probably benign
Transcript: ENSMUST00000022701
SMART Domains Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 99% (78/79)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7530416G11Rik T C 15: 85,378,370 (GRCm39) D91G unknown Het
Adam10 T C 9: 70,647,425 (GRCm39) Y42H probably damaging Het
Baiap3 A T 17: 25,469,235 (GRCm39) C183S probably damaging Het
Bbs10 A G 10: 111,136,995 (GRCm39) K703E probably benign Het
Bmp1 C T 14: 70,715,406 (GRCm39) V910M probably benign Het
Brdt G A 5: 107,507,802 (GRCm39) A677T probably benign Het
Cadps2 A T 6: 23,587,578 (GRCm39) M304K probably damaging Het
Car9 A T 4: 43,507,267 (GRCm39) D71V possibly damaging Het
Chml A T 1: 175,514,723 (GRCm39) Y399* probably null Het
Cilk1 T A 9: 78,075,071 (GRCm39) probably benign Het
Clasp1 A G 1: 118,430,765 (GRCm39) probably benign Het
Cntnap5b G A 1: 99,700,572 (GRCm39) probably null Het
Cpvl A T 6: 53,951,605 (GRCm39) probably null Het
Crocc2 G A 1: 93,096,516 (GRCm39) V24M possibly damaging Het
Cxcl16 T C 11: 70,346,255 (GRCm39) Y226C probably damaging Het
Dio3 G T 12: 110,246,444 (GRCm39) R260L probably damaging Het
Dmxl2 A G 9: 54,353,796 (GRCm39) L724P probably damaging Het
Dnah7a A C 1: 53,495,816 (GRCm39) F3214V possibly damaging Het
Dpy19l4 A T 4: 11,295,999 (GRCm39) Y223* probably null Het
Dpysl4 T C 7: 138,678,537 (GRCm39) V499A probably damaging Het
Ets2 A T 16: 95,512,818 (GRCm39) K101N probably benign Het
Fbn2 A T 18: 58,323,341 (GRCm39) Y200* probably null Het
Fem1c A T 18: 46,639,015 (GRCm39) I329N probably damaging Het
Fhip1b A G 7: 105,037,431 (GRCm39) I384T probably damaging Het
Gm8919 T C 3: 11,724,530 (GRCm39) noncoding transcript Het
H2-Q5 A T 17: 35,616,056 (GRCm39) H206L probably benign Het
Hexa T C 9: 59,464,602 (GRCm39) F164S probably benign Het
Hk1 G T 10: 62,194,194 (GRCm39) probably benign Het
Itih4 G A 14: 30,623,626 (GRCm39) G915R probably damaging Het
Kcnq5 A T 1: 21,475,292 (GRCm39) probably null Het
Krtap10-4 A T 10: 77,662,630 (GRCm39) probably benign Het
Maml3 G T 3: 51,763,013 (GRCm39) H650Q probably damaging Het
Mief1 C A 15: 80,132,454 (GRCm39) P112Q probably benign Het
Morc3 A G 16: 93,661,856 (GRCm39) E472G probably benign Het
Nap1l1 T A 10: 111,328,741 (GRCm39) Y223* probably null Het
Nfix A T 8: 85,453,119 (GRCm39) W312R probably damaging Het
Nfkbie A T 17: 45,869,510 (GRCm39) N155I probably damaging Het
Nlgn2 A T 11: 69,724,912 (GRCm39) M118K probably damaging Het
Nlrp5 A T 7: 23,117,173 (GRCm39) Y299F probably benign Het
Nnt T C 13: 119,494,072 (GRCm39) I556V possibly damaging Het
Oasl2 A T 5: 115,037,857 (GRCm39) I85F possibly damaging Het
Ogg1 A C 6: 113,305,393 (GRCm39) T69P probably damaging Het
Olfml2a G T 2: 38,847,733 (GRCm39) V431L probably damaging Het
Or4d5 T C 9: 40,012,102 (GRCm39) H228R possibly damaging Het
Or5p79 A T 7: 108,221,711 (GRCm39) M231L probably benign Het
Palb2 G T 7: 121,723,946 (GRCm39) A601E probably benign Het
Pcdhb20 G A 18: 37,638,849 (GRCm39) M458I probably benign Het
Pde11a T C 2: 76,121,585 (GRCm39) D332G possibly damaging Het
Pkd1l1 C T 11: 8,908,964 (GRCm39) E347K unknown Het
Pou2af1 G A 9: 51,149,525 (GRCm39) V206I possibly damaging Het
Prr16 A G 18: 51,251,139 (GRCm39) D46G possibly damaging Het
Pus1 A G 5: 110,928,184 (GRCm39) M1T probably null Het
Pygm T A 19: 6,441,439 (GRCm39) V566D possibly damaging Het
Rhoj A T 12: 75,446,980 (GRCm39) K200* probably null Het
Rnf213 A G 11: 119,328,521 (GRCm39) I1985V possibly damaging Het
Septin11 G T 5: 93,310,113 (GRCm39) M305I possibly damaging Het
Setdb2 T C 14: 59,653,153 (GRCm39) Y383C probably damaging Het
Sfpq G C 4: 126,915,404 (GRCm39) Q65H unknown Het
Skic8 A G 9: 54,635,463 (GRCm39) V46A probably benign Het
Stard3nl G T 13: 19,554,434 (GRCm39) A180E probably damaging Het
Tanc2 A G 11: 105,801,066 (GRCm39) N1094S probably benign Het
Trf C T 9: 103,089,184 (GRCm39) A554T possibly damaging Het
Trmt13 T C 3: 116,388,476 (GRCm39) probably benign Het
Tubb3 A G 8: 124,147,658 (GRCm39) D197G probably damaging Het
Ube2e3 A G 2: 78,749,056 (GRCm39) H135R probably damaging Het
Ugt1a10 A T 1: 87,983,204 (GRCm39) M1L possibly damaging Het
Vmn1r233 A T 17: 21,214,677 (GRCm39) I91N possibly damaging Het
Vmn2r88 A T 14: 51,655,531 (GRCm39) D580V probably damaging Het
Vps33b A G 7: 79,940,866 (GRCm39) Y593C probably benign Het
Wdr19 A G 5: 65,385,885 (GRCm39) T622A possibly damaging Het
Wdr3 C T 3: 100,047,516 (GRCm39) R853Q probably damaging Het
Xirp1 T C 9: 119,845,572 (GRCm39) T1104A probably benign Het
Yipf1 G A 4: 107,201,880 (GRCm39) probably null Het
Zbtb17 A G 4: 141,193,809 (GRCm39) D651G probably damaging Het
Zbtb42 C T 12: 112,646,976 (GRCm39) R384W probably damaging Het
Zbtb43 A T 2: 33,344,055 (GRCm39) M390K probably benign Het
Zfp462 C T 4: 55,011,889 (GRCm39) T1285M probably 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
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
Predicted Primers PCR Primer
(F):5'- TCCGACTTTAAAGCGCCGAC -3'
(R):5'- CTTCCCGTGGATTCTGAACGTAC -3'

Sequencing Primer
(F):5'- GACTTTAAAGCGCCGACTTTGATG -3'
(R):5'- GTGGAAGCCAACTTGACAA -3'
Posted On 2015-09-25