Incidental Mutation 'R1430:Rbl1'
ID 161472
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 039486-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1430 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 156987813-157046454 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 157011826 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 710 (T710A)
Ref Sequence ENSEMBL: ENSMUSP00000029170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029170]
AlphaFold Q64701
Predicted Effect probably benign
Transcript: ENSMUST00000029170
AA Change: T710A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: T710A

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: ENSMUST00000121195
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154721
Meta Mutation Damage Score 0.0594 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.9%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T A 8: 25,204,287 (GRCm39) probably benign Het
Aoc2 A G 11: 101,217,321 (GRCm39) Y468C probably damaging Het
Cdyl2 A G 8: 117,306,056 (GRCm39) probably benign Het
Cfh A G 1: 140,030,436 (GRCm39) probably benign Het
Cyp2j9 G T 4: 96,472,201 (GRCm39) probably benign Het
Dapk1 T G 13: 60,901,957 (GRCm39) F929V probably benign Het
Dhx9 A T 1: 153,359,493 (GRCm39) M35K probably benign Het
Dnah5 G A 15: 28,346,003 (GRCm39) E2448K probably benign Het
Doc2b A T 11: 75,670,981 (GRCm39) C217S possibly damaging Het
Dock11 A G X: 35,333,565 (GRCm39) I2010V probably benign Het
Dram1 T C 10: 88,160,641 (GRCm39) T227A possibly damaging Het
Eppin G A 2: 164,431,323 (GRCm39) T101M probably damaging Het
F13a1 T C 13: 37,082,105 (GRCm39) D533G probably damaging Het
Fmo1 C A 1: 162,667,293 (GRCm39) R174L probably damaging Het
Fsip2 C A 2: 82,828,407 (GRCm39) L6735I possibly damaging Het
Gab1 G T 8: 81,515,241 (GRCm39) T359K probably benign Het
Ggta1 T C 2: 35,298,029 (GRCm39) D118G possibly damaging Het
Gramd1a A G 7: 30,832,211 (GRCm39) S609P probably damaging Het
Gtf3c3 C T 1: 54,456,937 (GRCm39) A488T probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Lama1 A G 17: 68,089,150 (GRCm39) Y1607C possibly damaging Het
Lrrc24 G T 15: 76,607,992 (GRCm39) probably null Het
Mak C A 13: 41,223,760 (GRCm39) probably benign Het
Megf8 G A 7: 25,063,768 (GRCm39) R2708Q possibly damaging Het
Mettl24 T C 10: 40,613,791 (GRCm39) C177R probably damaging Het
Mgam G C 6: 40,733,305 (GRCm39) E812D probably benign Het
Mroh8 T C 2: 157,111,445 (GRCm39) R170G possibly damaging Het
Msn G A X: 95,196,325 (GRCm39) V130I probably benign Het
Ncoa4 G A 14: 31,898,679 (GRCm39) V500I probably benign Het
Or2aj5 A G 16: 19,424,752 (GRCm39) L222P probably damaging Het
Or2y1b A G 11: 49,208,928 (GRCm39) probably null Het
Or5an6 C T 19: 12,371,801 (GRCm39) T58I probably benign Het
Or8k3b T C 2: 86,520,866 (GRCm39) Y151C possibly damaging Het
Ppm1h T C 10: 122,693,004 (GRCm39) S302P probably damaging Het
Prkce T A 17: 86,866,565 (GRCm39) probably benign Het
Psenen T C 7: 30,261,815 (GRCm39) I34V probably benign Het
Sdk2 C T 11: 113,729,472 (GRCm39) silent Het
Slc1a5 A G 7: 16,516,328 (GRCm39) D168G probably benign Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Syce1 A T 7: 140,359,351 (GRCm39) probably benign Het
Tbc1d23 G T 16: 57,034,573 (GRCm39) D75E probably damaging Het
Tbk1 A G 10: 121,395,839 (GRCm39) V418A probably benign Het
Tmem132e T C 11: 82,329,122 (GRCm39) V467A probably damaging Het
Tmem241 T C 18: 12,126,651 (GRCm39) D144G probably benign Het
Tsc2 A G 17: 24,817,997 (GRCm39) probably null Het
Ubxn4 T A 1: 128,202,617 (GRCm39) F420I probably benign Het
Usp34 A G 11: 23,409,151 (GRCm39) T2645A probably damaging Het
Utp14b A G 1: 78,644,111 (GRCm39) K670E probably benign Het
Zfp407 C T 18: 84,227,580 (GRCm39) V2010M probably benign Het
Zfp879 A G 11: 50,724,784 (GRCm39) F91L probably benign Het
Zfyve26 A G 12: 79,329,591 (GRCm39) S532P 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
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
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'- TCAGGGAGTTGGACGCATGAAATAC -3'
(R):5'- TTGGAGATGACCCACCAAAGGACAC -3'

Sequencing Primer
(F):5'- acccaaagttcagttctcacc -3'
(R):5'- CACACTGATGGATAAGATTATGGC -3'
Posted On 2014-03-14