Incidental Mutation 'R0173:Rbl1'
ID 23697
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 038445-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0173 (G1)
Quality Score 225
Status Validated (trace)
Chromosome 2
Chromosomal Location 156987813-157046454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 157001605 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 894 (N894K)
Ref Sequence ENSEMBL: ENSMUSP00000029170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029170]
AlphaFold Q64701
Predicted Effect probably benign
Transcript: ENSMUST00000029170
AA Change: N894K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: N894K

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
Meta Mutation Damage Score 0.2231 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 95.1%
Validation Efficiency 96% (64/67)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A330008L17Rik G A 8: 100,148,286 (GRCm39) noncoding transcript Het
Akt1s1 C T 7: 44,502,284 (GRCm39) P95S possibly damaging Het
Ambra1 T C 2: 91,640,564 (GRCm39) probably benign Het
Aunip T A 4: 134,250,861 (GRCm39) W269R probably damaging Het
Bmper A G 9: 23,136,125 (GRCm39) M69V probably benign Het
Cdh2 A T 18: 16,783,314 (GRCm39) probably benign Het
Cenpe T C 3: 134,965,744 (GRCm39) M2074T probably benign Het
Col14a1 C T 15: 55,351,928 (GRCm39) P1592S probably damaging Het
Csgalnact1 G A 8: 68,913,681 (GRCm39) R175C probably damaging Het
Dtx1 A G 5: 120,820,818 (GRCm39) probably benign Het
Elmod3 T C 6: 72,554,571 (GRCm39) D154G probably damaging Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Gab1 T C 8: 81,526,789 (GRCm39) D103G possibly damaging Het
Gon4l A G 3: 88,765,710 (GRCm39) D377G probably damaging Het
Gramd1c C T 16: 43,818,196 (GRCm39) R328K possibly damaging Het
Hdac3 A G 18: 38,074,806 (GRCm39) S312P probably damaging Het
Hmcn2 T C 2: 31,328,343 (GRCm39) probably null Het
Intu T C 3: 40,629,776 (GRCm39) probably null Het
Lnpk T C 2: 74,381,409 (GRCm39) K118R probably damaging Het
Lzts3 A C 2: 130,476,688 (GRCm39) *587G probably null Het
Mctp2 C T 7: 71,896,855 (GRCm39) probably null Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mmp23 G T 4: 155,735,222 (GRCm39) R374S possibly damaging Het
Morc3 G A 16: 93,629,094 (GRCm39) probably null Het
Mymk C T 2: 26,952,262 (GRCm39) A161T probably damaging Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Neb T C 2: 52,133,859 (GRCm39) S3375G probably damaging Het
Nedd1 T C 10: 92,534,745 (GRCm39) D255G probably benign Het
Nid2 T C 14: 19,852,400 (GRCm39) probably benign Het
Nr1d2 A G 14: 18,215,502 (GRCm38) probably benign Het
Nus1 A G 10: 52,294,094 (GRCm39) H86R possibly damaging Het
Or5b118 A T 19: 13,449,065 (GRCm39) I244F probably benign Het
Or7g17 A G 9: 18,768,325 (GRCm39) I135V probably damaging Het
Plcxd2 A T 16: 45,785,542 (GRCm39) probably null Het
Prdm9 T A 17: 15,764,275 (GRCm39) D835V probably benign Het
Prdm9 A G 17: 15,764,297 (GRCm39) W828R probably benign Het
Prkd2 T C 7: 16,582,969 (GRCm39) S244P probably benign Het
Psmd4 A T 3: 94,940,234 (GRCm39) L159H probably damaging Het
Qprt C T 7: 126,707,543 (GRCm39) G215E probably damaging Het
Rab3gap2 C A 1: 184,982,104 (GRCm39) H385Q possibly damaging Het
Rapgef5 A G 12: 117,652,411 (GRCm39) D300G probably benign Het
Rgma C T 7: 73,067,302 (GRCm39) R280W probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rundc3a T A 11: 102,289,071 (GRCm39) probably benign Het
Scaf11 A T 15: 96,318,075 (GRCm39) D496E probably benign Het
Scn9a T C 2: 66,363,437 (GRCm39) Y936C probably damaging Het
Sdk1 A G 5: 142,159,564 (GRCm39) probably benign Het
Serpinb9 G A 13: 33,194,705 (GRCm39) D154N probably benign Het
Slc48a1 A T 15: 97,688,555 (GRCm39) H131L possibly damaging Het
Slco1a6 T C 6: 142,048,848 (GRCm39) N311D probably benign Het
Sorl1 A G 9: 41,979,229 (GRCm39) V423A probably damaging Het
Srrm2 C A 17: 24,034,103 (GRCm39) probably benign Het
Srsf12 A T 4: 33,226,117 (GRCm39) S122C probably damaging Het
Suclg2 G C 6: 95,452,154 (GRCm39) probably benign Het
Tbpl1 A T 10: 22,583,523 (GRCm39) L149* probably null Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Tmem63a T C 1: 180,782,363 (GRCm39) probably benign Het
Tut1 C T 19: 8,942,847 (GRCm39) R645* probably null Het
Ubqln4 T A 3: 88,462,686 (GRCm39) D50E probably benign Het
Ubr5 A G 15: 38,004,919 (GRCm39) S1227P probably damaging Het
Vipas39 A G 12: 87,297,285 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps26b G A 9: 26,924,101 (GRCm39) T214I probably benign Het
Xpc A G 6: 91,481,717 (GRCm39) probably benign 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
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
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 2013-04-16