Incidental Mutation 'IGL02926:Rbl1'
ID363886
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbl1
Ensembl Gene ENSMUSG00000027641
Gene NameRB transcriptional corepressor like 1
Synonymsp107
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02926
Quality Score
Status
Chromosome2
Chromosomal Location157145893-157204534 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 157167413 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 734 (V734A)
Ref Sequence ENSEMBL: ENSMUSP00000029170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029170]
Predicted Effect probably benign
Transcript: ENSMUST00000029170
AA Change: V734A

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: V734A

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
Coding Region Coverage
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik C T 2: 130,712,366 R921K probably benign Het
Alms1 A T 6: 85,641,450 D2826V probably damaging Het
Alpl C T 4: 137,742,634 A460T probably damaging Het
C2cd5 A G 6: 143,031,237 probably benign Het
C4b C T 17: 34,730,712 R1468Q possibly damaging Het
Calu A G 6: 29,366,920 T44A possibly damaging Het
Cgn T C 3: 94,778,016 K399R probably benign Het
Cyp2t4 G A 7: 27,157,803 V356M probably damaging Het
D430041D05Rik T C 2: 104,214,259 D683G probably damaging Het
Dhcr24 T A 4: 106,586,355 I410N probably damaging Het
Dmap1 T A 4: 117,681,888 E17V probably benign Het
Dnah7a A G 1: 53,495,950 I2717T possibly damaging Het
Epb41l3 G T 17: 69,247,746 K280N probably damaging Het
Espl1 T A 15: 102,299,855 M432K probably damaging Het
Fgf5 C A 5: 98,262,015 A141E probably damaging Het
Fto T A 8: 91,485,167 F373L probably damaging Het
Gpatch1 T C 7: 35,308,269 D122G probably damaging Het
Ints11 T C 4: 155,888,111 probably null Het
Jarid2 A G 13: 44,902,929 Q398R probably benign Het
Kcnh1 A G 1: 192,276,900 D254G probably damaging Het
Lamc3 C T 2: 31,935,725 probably benign Het
Lamc3 C T 2: 31,935,726 probably benign Het
Ltbp4 T C 7: 27,328,872 probably null Het
Mcm6 A G 1: 128,339,382 Y575H probably damaging Het
Myh9 A C 15: 77,787,626 Y422D probably damaging Het
Narfl A G 17: 25,782,154 H460R probably benign Het
Olfr1260 T C 2: 89,978,162 L128P probably damaging Het
Olfr1458 A C 19: 13,102,823 N160K possibly damaging Het
Olfr911-ps1 T C 9: 38,523,725 probably benign Het
Plcb1 T C 2: 135,364,762 probably benign Het
Pmfbp1 A G 8: 109,520,249 E251G probably damaging Het
Psg27 A T 7: 18,557,129 V383E probably damaging Het
Ptprn A T 1: 75,247,873 H946Q possibly damaging Het
Rspry1 T A 8: 94,649,811 N320K probably damaging Het
Ryr1 A T 7: 29,061,540 V3219D probably damaging Het
Ryr2 C A 13: 11,759,835 W1145L probably damaging Het
Scel A T 14: 103,576,247 R319* probably null Het
Stxbp2 C T 8: 3,635,629 T226I probably benign Het
Tac1 A T 6: 7,562,410 N106I possibly damaging Het
Trim13 G T 14: 61,605,244 probably null Het
Tspan31 T G 10: 127,068,909 probably null Het
Usp36 C T 11: 118,264,783 V723M probably benign Het
Utrn A T 10: 12,690,760 N1219K probably damaging Het
Vcan G T 13: 89,688,623 T2934K probably damaging Het
Other mutations in Rbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Rbl1 APN 2 157152892 splice site probably null
IGL01418:Rbl1 APN 2 157152892 splice site probably null
IGL01597:Rbl1 APN 2 157195449 splice site probably benign
IGL01788:Rbl1 APN 2 157163656 missense probably benign 0.15
IGL02366:Rbl1 APN 2 157174893 missense probably benign 0.18
IGL02527:Rbl1 APN 2 157194048 missense probably benign 0.05
IGL02720:Rbl1 APN 2 157199429 missense possibly damaging 0.94
IGL02828:Rbl1 APN 2 157199464 missense probably damaging 1.00
IGL02968:Rbl1 APN 2 157177274 missense probably damaging 1.00
IGL03284:Rbl1 APN 2 157194069 splice site probably benign
R0042:Rbl1 UTSW 2 157175704 splice site probably benign
R0089:Rbl1 UTSW 2 157199414 critical splice donor site probably null
R0173:Rbl1 UTSW 2 157159685 missense probably benign 0.00
R0464:Rbl1 UTSW 2 157147545 missense probably damaging 1.00
R1178:Rbl1 UTSW 2 157147655 missense possibly damaging 0.92
R1296:Rbl1 UTSW 2 157169971 missense probably benign 0.09
R1430:Rbl1 UTSW 2 157169906 missense probably benign
R1445:Rbl1 UTSW 2 157193098 missense probably benign
R1511:Rbl1 UTSW 2 157195634 missense probably damaging 1.00
R1603:Rbl1 UTSW 2 157175659 missense possibly damaging 0.75
R1666:Rbl1 UTSW 2 157159734 missense probably damaging 1.00
R1668:Rbl1 UTSW 2 157159734 missense probably damaging 1.00
R1680:Rbl1 UTSW 2 157174783 missense probably damaging 0.97
R1771:Rbl1 UTSW 2 157163534 splice site probably null
R1833:Rbl1 UTSW 2 157195555 missense probably damaging 0.98
R1852:Rbl1 UTSW 2 157174903 missense probably benign 0.01
R2304:Rbl1 UTSW 2 157147631 missense probably benign 0.02
R3552:Rbl1 UTSW 2 157195585 missense probably benign 0.19
R3605:Rbl1 UTSW 2 157177233 missense probably damaging 1.00
R3607:Rbl1 UTSW 2 157177233 missense probably damaging 1.00
R4160:Rbl1 UTSW 2 157192119 intron probably benign
R4423:Rbl1 UTSW 2 157168955 intron probably benign
R4636:Rbl1 UTSW 2 157167420 missense possibly damaging 0.82
R4780:Rbl1 UTSW 2 157174804 missense probably benign 0.43
R4789:Rbl1 UTSW 2 157177355 missense probably benign
R5145:Rbl1 UTSW 2 157175477 intron probably benign
R5802:Rbl1 UTSW 2 157161433 missense probably benign 0.23
R5851:Rbl1 UTSW 2 157167325 missense probably benign 0.00
R6742:Rbl1 UTSW 2 157169998 missense probably benign 0.19
R6861:Rbl1 UTSW 2 157152967 missense probably damaging 1.00
R6943:Rbl1 UTSW 2 157188286 missense probably benign
X0057:Rbl1 UTSW 2 157188329 nonsense probably null
X0058:Rbl1 UTSW 2 157174813 missense possibly damaging 0.88
Posted On2015-12-18