Incidental Mutation 'R4789:Rbl1'
ID 472955
Institutional Source Beutler Lab
Gene Symbol Rbl1
Ensembl Gene ENSMUSG00000027641
Gene Name RB transcriptional corepressor like 1
Synonyms retinoblastoma-like 1 (p107), p107
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4789 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156987813-157046454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 157019275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 490 (V490A)
Ref Sequence ENSEMBL: ENSMUSP00000029170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029170]
AlphaFold Q64701
Predicted Effect probably benign
Transcript: ENSMUST00000029170
AA Change: V490A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: V490A

DomainStartEndE-ValueType
low complexity region 8 28 N/A INTRINSIC
DUF3452 70 212 5.14e-78 SMART
RB_A 385 578 9.58e-119 SMART
low complexity region 706 719 N/A INTRINSIC
CYCLIN 800 934 8.68e-6 SMART
Rb_C 947 1063 2.29e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154721
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 98.4%
  • 10x: 96.9%
  • 20x: 94.4%
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 similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are viable and fertile, but may show impaired growth, myeloid hyperplasia in spleen and liver and give rise to cells with a 2X doubling time in vitro. These effects are genetic background dependent. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004F10Rik C A 7: 115,692,757 (GRCm39) D20E probably benign Het
Abcb9 T A 5: 124,216,853 (GRCm39) M455L probably benign Het
Add2 G A 6: 86,095,752 (GRCm39) V475M probably benign Het
Apoh T A 11: 108,300,064 (GRCm39) Y238N probably damaging Het
Arpp21 A G 9: 111,896,360 (GRCm39) S681P probably benign Het
Atp1a3 A C 7: 24,698,389 (GRCm39) F149C probably damaging Het
B9d1 A G 11: 61,397,186 (GRCm39) D27G probably benign Het
Bfar T A 16: 13,503,001 (GRCm39) M1K probably null Het
Bok T C 1: 93,616,963 (GRCm39) V103A probably damaging Het
Brca1 A C 11: 101,414,758 (GRCm39) H1125Q probably benign Het
Card9 T A 2: 26,247,632 (GRCm39) M218L probably damaging Het
Cers1 T C 8: 70,776,018 (GRCm39) V303A probably damaging Het
Col6a5 T C 9: 105,814,534 (GRCm39) I493V unknown Het
Coro7 T C 16: 4,446,085 (GRCm39) Y880C probably damaging Het
Cyp2b19 T C 7: 26,463,801 (GRCm39) Y318H probably benign Het
Dennd3 T A 15: 73,394,131 (GRCm39) L52Q probably damaging Het
Dlat A T 9: 50,570,670 (GRCm39) C33S probably benign Het
Dmxl2 T A 9: 54,287,099 (GRCm39) Q2646L probably benign Het
Dnah3 T C 7: 119,610,295 (GRCm39) N1703D probably damaging Het
Dock10 T A 1: 80,518,998 (GRCm39) H1241L probably damaging Het
Fbxl17 T G 17: 63,794,910 (GRCm39) I391L probably benign Het
Fdxacb1 A G 9: 50,681,418 (GRCm39) D113G possibly damaging Het
Flii A G 11: 60,605,919 (GRCm39) S1185P probably benign Het
Gm14496 A T 2: 181,637,577 (GRCm39) Q217L possibly damaging Het
Heatr9 A T 11: 83,410,018 (GRCm39) D74E probably benign Het
Heca C A 10: 17,783,895 (GRCm39) E91* probably null Het
Ikzf4 T G 10: 128,468,575 (GRCm39) T635P probably benign Het
Kif17 C T 4: 138,008,688 (GRCm39) P382S probably damaging Het
Kmt5b T C 19: 3,865,330 (GRCm39) V775A probably benign Het
Mapk8ip2 T A 15: 89,343,241 (GRCm39) F661Y probably damaging Het
Mapkap1 A G 2: 34,423,859 (GRCm39) E111G possibly damaging Het
Med9 T A 11: 59,839,266 (GRCm39) N58K probably benign Het
Mid2 T A X: 139,578,981 (GRCm39) Y61N probably damaging Het
Mief1 T A 15: 80,132,080 (GRCm39) Y50* probably null Het
Mios T C 6: 8,235,429 (GRCm39) M859T probably benign Het
Muc5ac G T 7: 141,352,619 (GRCm39) C702F possibly damaging Het
Nkiras1 T C 14: 18,276,935 (GRCm38) probably benign Het
Or11i1 A C 3: 106,729,608 (GRCm39) I89R possibly damaging Het
Or11i1 T A 3: 106,729,624 (GRCm39) M84L possibly damaging Het
Or56a3b T G 7: 104,771,520 (GRCm39) H285Q probably null Het
Or5ae2 T A 7: 84,506,509 (GRCm39) C311S probably benign Het
Pcsk5 C T 19: 17,410,963 (GRCm39) V1810M probably benign Het
Pex1 T C 5: 3,680,270 (GRCm39) V964A probably damaging Het
Pgm2l1 A T 7: 99,916,794 (GRCm39) M471L probably benign Het
Pkd1l2 T C 8: 117,738,314 (GRCm39) T2182A probably damaging Het
Plscr1l1 G A 9: 92,233,084 (GRCm39) C69Y probably damaging Het
Polr1b T A 2: 128,951,257 (GRCm39) I290K probably benign Het
Prkg1 T A 19: 31,563,045 (GRCm39) M119L probably damaging Het
Shtn1 G C 19: 59,039,305 (GRCm39) R45G probably damaging Het
Slc10a6 T A 5: 103,776,848 (GRCm39) Y84F probably benign Het
Slc25a23 T C 17: 57,366,597 (GRCm39) D26G probably damaging Het
Slc41a2 T C 10: 83,152,320 (GRCm39) K52E probably damaging Het
Slc4a5 T C 6: 83,247,951 (GRCm39) F501L probably benign Het
Slfn5 T A 11: 82,847,226 (GRCm39) M37K probably benign Het
Sptbn1 A C 11: 30,067,759 (GRCm39) F1818L probably benign Het
Taf3 T C 2: 9,956,770 (GRCm39) T466A probably damaging Het
Thbs2 C T 17: 14,891,750 (GRCm39) G929D probably damaging Het
Tmc3 A T 7: 83,271,746 (GRCm39) D995V probably damaging Het
Tmem262 T C 19: 6,130,452 (GRCm39) F59L possibly damaging Het
Triobp A G 15: 78,875,228 (GRCm39) D137G probably damaging Het
Tspear T C 10: 77,702,199 (GRCm39) F211L possibly damaging Het
Ttn A T 2: 76,728,670 (GRCm39) probably benign Het
Ugt2b5 T A 5: 87,287,550 (GRCm39) M206L probably benign Het
Ush1g A T 11: 115,209,466 (GRCm39) S243T probably damaging Het
Usp19 A T 9: 108,370,433 (GRCm39) T86S possibly damaging Het
Wdhd1 A G 14: 47,506,149 (GRCm39) V255A probably benign Het
Wdr11 G A 7: 129,220,394 (GRCm39) W594* probably null Het
Wnk3 T A X: 149,993,933 (GRCm39) Y331* probably null Het
Zfp429 A T 13: 67,538,523 (GRCm39) I307K probably benign Het
Zkscan14 T A 5: 145,132,444 (GRCm39) K362N probably damaging Het
Other mutations in Rbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Rbl1 APN 2 156,994,812 (GRCm39) splice site probably null
IGL01418:Rbl1 APN 2 156,994,812 (GRCm39) splice site probably null
IGL01597:Rbl1 APN 2 157,037,369 (GRCm39) splice site probably benign
IGL01788:Rbl1 APN 2 157,005,576 (GRCm39) missense probably benign 0.15
IGL02366:Rbl1 APN 2 157,016,813 (GRCm39) missense probably benign 0.18
IGL02527:Rbl1 APN 2 157,035,968 (GRCm39) missense probably benign 0.05
IGL02720:Rbl1 APN 2 157,041,349 (GRCm39) missense possibly damaging 0.94
IGL02828:Rbl1 APN 2 157,041,384 (GRCm39) missense probably damaging 1.00
IGL02926:Rbl1 APN 2 157,009,333 (GRCm39) missense probably benign 0.08
IGL02968:Rbl1 APN 2 157,019,194 (GRCm39) missense probably damaging 1.00
IGL03284:Rbl1 APN 2 157,035,989 (GRCm39) splice site probably benign
R0042:Rbl1 UTSW 2 157,017,624 (GRCm39) splice site probably benign
R0089:Rbl1 UTSW 2 157,041,334 (GRCm39) critical splice donor site probably null
R0173:Rbl1 UTSW 2 157,001,605 (GRCm39) missense probably benign 0.00
R0464:Rbl1 UTSW 2 156,989,465 (GRCm39) missense probably damaging 1.00
R1178:Rbl1 UTSW 2 156,989,575 (GRCm39) missense possibly damaging 0.92
R1296:Rbl1 UTSW 2 157,011,891 (GRCm39) missense probably benign 0.09
R1430:Rbl1 UTSW 2 157,011,826 (GRCm39) missense probably benign
R1445:Rbl1 UTSW 2 157,035,018 (GRCm39) missense probably benign
R1511:Rbl1 UTSW 2 157,037,554 (GRCm39) missense probably damaging 1.00
R1603:Rbl1 UTSW 2 157,017,579 (GRCm39) missense possibly damaging 0.75
R1666:Rbl1 UTSW 2 157,001,654 (GRCm39) missense probably damaging 1.00
R1668:Rbl1 UTSW 2 157,001,654 (GRCm39) missense probably damaging 1.00
R1680:Rbl1 UTSW 2 157,016,703 (GRCm39) missense probably damaging 0.97
R1771:Rbl1 UTSW 2 157,005,454 (GRCm39) splice site probably null
R1833:Rbl1 UTSW 2 157,037,475 (GRCm39) missense probably damaging 0.98
R1852:Rbl1 UTSW 2 157,016,823 (GRCm39) missense probably benign 0.01
R2304:Rbl1 UTSW 2 156,989,551 (GRCm39) missense probably benign 0.02
R3552:Rbl1 UTSW 2 157,037,505 (GRCm39) missense probably benign 0.19
R3605:Rbl1 UTSW 2 157,019,153 (GRCm39) missense probably damaging 1.00
R3607:Rbl1 UTSW 2 157,019,153 (GRCm39) missense probably damaging 1.00
R4160:Rbl1 UTSW 2 157,034,039 (GRCm39) intron probably benign
R4423:Rbl1 UTSW 2 157,010,875 (GRCm39) intron probably benign
R4636:Rbl1 UTSW 2 157,009,340 (GRCm39) missense possibly damaging 0.82
R4780:Rbl1 UTSW 2 157,016,724 (GRCm39) missense probably benign 0.43
R5145:Rbl1 UTSW 2 157,017,397 (GRCm39) intron probably benign
R5802:Rbl1 UTSW 2 157,003,353 (GRCm39) missense probably benign 0.23
R5851:Rbl1 UTSW 2 157,009,245 (GRCm39) missense probably benign 0.00
R6742:Rbl1 UTSW 2 157,011,918 (GRCm39) missense probably benign 0.19
R6861:Rbl1 UTSW 2 156,994,887 (GRCm39) missense probably damaging 1.00
R6943:Rbl1 UTSW 2 157,030,206 (GRCm39) missense probably benign
R7090:Rbl1 UTSW 2 156,994,820 (GRCm39) missense probably benign 0.02
R7176:Rbl1 UTSW 2 157,030,245 (GRCm39) missense probably damaging 1.00
R7769:Rbl1 UTSW 2 157,033,900 (GRCm39) missense probably benign 0.01
R8032:Rbl1 UTSW 2 157,029,918 (GRCm39) nonsense probably null
R8544:Rbl1 UTSW 2 157,035,124 (GRCm39) missense probably damaging 1.00
R8552:Rbl1 UTSW 2 157,038,174 (GRCm39) missense probably damaging 1.00
R8802:Rbl1 UTSW 2 157,038,073 (GRCm39) critical splice donor site probably null
R8902:Rbl1 UTSW 2 157,041,420 (GRCm39) missense probably benign 0.00
R9032:Rbl1 UTSW 2 157,035,073 (GRCm39) missense probably benign 0.02
R9401:Rbl1 UTSW 2 157,016,742 (GRCm39) missense possibly damaging 0.81
R9420:Rbl1 UTSW 2 157,035,154 (GRCm39) missense probably damaging 0.99
R9747:Rbl1 UTSW 2 157,033,966 (GRCm39) missense probably damaging 0.99
X0057:Rbl1 UTSW 2 157,030,249 (GRCm39) nonsense probably null
X0058:Rbl1 UTSW 2 157,016,733 (GRCm39) missense possibly damaging 0.88
Predicted Primers PCR Primer
(F):5'- GTGAAACTGGCTCAATTTCCTCC -3'
(R):5'- AGCTTGCCTGTTCTTTGCAG -3'

Sequencing Primer
(F):5'- GCTTATGTGAATACATACCAGAACAG -3'
(R):5'- CTGTTCTTTGCAGGCTGC -3'
Posted On 2017-04-14