Incidental Mutation 'R1668:Rbl1'
ID 187340
Institutional Source Beutler Lab
Gene Symbol Rbl1
Ensembl Gene ENSMUSG00000027641
Gene Name RB transcriptional corepressor like 1
Synonyms retinoblastoma-like 1 (p107), p107
MMRRC Submission 039704-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1668 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 156987813-157046454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157001654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 878 (Y878C)
Ref Sequence ENSEMBL: ENSMUSP00000029170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029170]
AlphaFold Q64701
Predicted Effect probably damaging
Transcript: ENSMUST00000029170
AA Change: Y878C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: Y878C

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.0%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2c T C 5: 35,437,641 (GRCm39) S138P probably damaging Het
Appl1 A C 14: 26,645,811 (GRCm39) S666R probably damaging Het
Arhgap45 A G 10: 79,864,584 (GRCm39) S879G possibly damaging Het
Calcoco2 T C 11: 95,993,563 (GRCm39) M140V probably benign Het
Cap2 C A 13: 46,768,799 (GRCm39) H147N probably damaging Het
Chd9 A T 8: 91,767,814 (GRCm39) H2437L probably damaging Het
Col5a3 A G 9: 20,682,392 (GRCm39) I1684T unknown Het
Comp A T 8: 70,831,607 (GRCm39) probably null Het
Cyp2c50 A T 19: 40,079,499 (GRCm39) M198L probably benign Het
Dnaaf2 A G 12: 69,243,465 (GRCm39) V532A probably benign Het
Dnah10 A T 5: 124,842,626 (GRCm39) Q1358L probably benign Het
Dop1b T A 16: 93,562,404 (GRCm39) S832T probably damaging Het
Dus3l T G 17: 57,073,912 (GRCm39) F162C possibly damaging Het
Epb41l4a A G 18: 34,054,962 (GRCm39) L42P probably damaging Het
Ercc5 T A 1: 44,206,193 (GRCm39) S369T probably benign Het
Fbxl2 C T 9: 113,818,214 (GRCm39) V211M probably benign Het
Fermt3 A G 19: 6,996,060 (GRCm39) V45A probably damaging Het
Frs3 C A 17: 48,014,147 (GRCm39) P280Q possibly damaging Het
Fxn A G 19: 24,239,377 (GRCm39) Y172H probably damaging Het
Gabpa T C 16: 84,643,069 (GRCm39) V122A probably damaging Het
Gsta4 A G 9: 78,111,570 (GRCm39) T66A probably benign Het
Hsdl2 C T 4: 59,612,697 (GRCm39) T296M probably damaging Het
Kank4 T C 4: 98,667,133 (GRCm39) N438S probably damaging Het
Krt24 A G 11: 99,175,444 (GRCm39) I197T probably benign Het
Lct T C 1: 128,215,459 (GRCm39) probably null Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Mc4r A G 18: 66,992,480 (GRCm39) L211P probably damaging Het
Mfsd4b5 T C 10: 39,849,687 (GRCm39) T111A probably damaging Het
Mgat5b T A 11: 116,874,474 (GRCm39) N635K probably benign Het
Mms19 A T 19: 41,940,995 (GRCm39) M443K possibly damaging Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Mroh5 T C 15: 73,659,754 (GRCm39) N359S probably benign Het
Mroh9 T C 1: 162,852,161 (GRCm39) I843V possibly damaging Het
Nbeal2 T C 9: 110,467,961 (GRCm39) D436G probably damaging Het
Nbr1 A G 11: 101,460,592 (GRCm39) D502G probably benign Het
Ngfr C T 11: 95,478,371 (GRCm39) G5D probably damaging Het
Nlrc4 G A 17: 74,752,901 (GRCm39) T494M probably damaging Het
Notch3 T A 17: 32,377,563 (GRCm39) H171L probably damaging Het
Nsmaf A G 4: 6,398,880 (GRCm39) L795P probably damaging Het
Nup210 T C 6: 91,005,787 (GRCm39) T616A possibly damaging Het
Or10d5 C A 9: 39,861,465 (GRCm39) V201L possibly damaging Het
Or1j18 T A 2: 36,625,204 (GRCm39) Y290* probably null Het
Or5ak25 T A 2: 85,269,220 (GRCm39) Y94F probably benign Het
Or5b113 A C 19: 13,342,234 (GRCm39) M81L probably benign Het
Osbpl5 T C 7: 143,262,776 (GRCm39) H192R probably damaging Het
Parp2 G A 14: 51,058,313 (GRCm39) R486Q probably benign Het
Pcgf6 G A 19: 47,028,544 (GRCm39) A286V probably damaging Het
Pla2r1 T C 2: 60,258,990 (GRCm39) T1133A probably damaging Het
Plekha2 T C 8: 25,562,070 (GRCm39) N48S probably damaging Het
Pole T G 5: 110,445,235 (GRCm39) S461A probably damaging Het
Ppfibp2 T C 7: 107,329,099 (GRCm39) L536P probably damaging Het
Prkcz G T 4: 155,374,208 (GRCm39) F69L probably damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Rab23 A T 1: 33,773,935 (GRCm39) K132* probably null Het
Rbck1 T A 2: 152,158,819 (GRCm39) S488C probably damaging Het
Rpn2 C T 2: 157,136,075 (GRCm39) T161M possibly damaging Het
Rufy4 G A 1: 74,186,837 (GRCm39) V542I probably benign Het
Serpinb3d A G 1: 107,008,481 (GRCm39) V128A probably benign Het
Smarca2 A G 19: 26,624,434 (GRCm39) I365V possibly damaging Het
Spata31f1a G T 4: 42,848,424 (GRCm39) T1244K probably damaging Het
Sptb A G 12: 76,667,943 (GRCm39) V718A probably benign Het
Susd4 A G 1: 182,686,128 (GRCm39) H226R probably benign Het
Tmem151b T C 17: 45,856,831 (GRCm39) Y203C probably damaging Het
Tmppe T C 9: 114,233,968 (GRCm39) V89A possibly damaging Het
Trappc6b A T 12: 59,094,907 (GRCm39) probably null Het
Ube4b A T 4: 149,445,751 (GRCm39) M433K probably benign Het
Vmn1r202 A T 13: 22,685,540 (GRCm39) D292E possibly damaging Het
Vmn1r22 A G 6: 57,877,704 (GRCm39) M91T probably benign Het
Vmn1r43 T C 6: 89,846,683 (GRCm39) I268V probably benign Het
Vmn1r49 T A 6: 90,049,764 (GRCm39) R79S probably benign Het
Vmn2r14 T A 5: 109,366,913 (GRCm39) K436* probably null Het
Wdr72 A G 9: 74,117,444 (GRCm39) S719G probably damaging Het
Zfp526 T C 7: 24,924,967 (GRCm39) F409L probably benign Het
Zfp804b A C 5: 6,821,323 (GRCm39) L580R possibly damaging Het
Zfp977 T C 7: 42,230,070 (GRCm39) T152A probably benign Het
Zyx T A 6: 42,332,966 (GRCm39) V372E possibly 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
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
R4789:Rbl1 UTSW 2 157,019,275 (GRCm39) missense probably benign
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'- tctctctctctcCTTACACAGCCAC -3'
(R):5'- TGGAACACAGTCTAGAAGAGGCCC -3'

Sequencing Primer
(F):5'- tctcCTTACACAGCCACTTTCAC -3'
(R):5'- gaggcagaggcaggtgg -3'
Posted On 2014-05-09