Incidental Mutation 'IGL01418:Rbl1'
ID278480
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 #IGL01418
Quality Score
Status
Chromosome2
Chromosomal Location157145893-157204534 bp(-) (GRCm38)
Type of Mutationsplice site (4 bp from exon)
DNA Base Change (assembly) T to C at 157152892 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000029170 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029170]
Predicted Effect probably null
Transcript: ENSMUST00000029170
SMART Domains Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641

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
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 T A 14: 68,525,206 H190L probably benign Het
Apoo-ps T A 13: 107,414,532 noncoding transcript Het
Asic1 T A 15: 99,672,117 N106K probably damaging Het
Ceacam5 G A 7: 17,745,599 A214T probably damaging Het
Cfap221 T A 1: 119,985,071 H91L possibly damaging Het
Cnga4 A T 7: 105,404,962 M46L probably benign Het
Ctcfl T C 2: 173,118,331 E153G probably benign Het
Cubn C T 2: 13,284,041 V3374I probably benign Het
Cyb561a3 T A 19: 10,585,246 H83Q probably damaging Het
Dnah11 C T 12: 117,987,482 W1126* probably null Het
E130311K13Rik A C 3: 63,920,262 L141R possibly damaging Het
Ercc5 A G 1: 44,167,280 K451R probably benign Het
Fbxo34 T A 14: 47,530,784 C585S possibly damaging Het
Gm13088 A T 4: 143,655,317 F270I probably benign Het
Hoxc9 T A 15: 102,984,000 M215K probably damaging Het
Ifi214 T A 1: 173,529,429 N36I probably damaging Het
Il17ra A G 6: 120,475,581 N242D probably benign Het
Itpr1 T A 6: 108,339,624 probably null Het
Lactb T C 9: 66,967,763 D349G possibly damaging Het
Lrp2 C T 2: 69,525,286 V405I probably benign Het
Map1b A T 13: 99,431,830 I1461K unknown Het
Mdh2 T A 5: 135,786,025 I116N probably damaging Het
Nek5 A C 8: 22,095,269 I364S probably damaging Het
Nr2c1 A T 10: 94,190,690 M476L probably damaging Het
Olfr1152 T C 2: 87,868,465 V158A probably benign Het
Olfr1290 T C 2: 111,489,639 E173G probably benign Het
Olfr412 T C 11: 74,364,984 V105A possibly damaging Het
Olfr418 T A 1: 173,270,708 C178S probably damaging Het
Pcdhb8 A G 18: 37,355,976 N236D probably damaging Het
Phf10 C A 17: 14,945,134 V487L probably benign Het
Ptpn3 G A 4: 57,270,156 T2I probably damaging Het
Slc24a3 A G 2: 145,640,249 D609G probably damaging Het
Slc25a40 A C 5: 8,453,298 *338Y probably null Het
Slc5a8 G T 10: 88,905,033 C270F probably damaging Het
Slfn8 T C 11: 83,004,636 D448G probably damaging Het
Tmem87a T C 2: 120,385,870 T180A probably benign Het
Trim30c A G 7: 104,382,334 S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 R414S probably benign Het
Vipas39 G A 12: 87,249,397 T274I probably benign Het
Zfp507 T A 7: 35,793,812 probably null Het
Other mutations in Rbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413: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
IGL02926:Rbl1 APN 2 157167413 missense probably benign 0.08
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
R7090:Rbl1 UTSW 2 157152900 missense probably benign 0.02
R7176:Rbl1 UTSW 2 157188325 missense probably damaging 1.00
X0057:Rbl1 UTSW 2 157188329 nonsense probably null
X0058:Rbl1 UTSW 2 157174813 missense possibly damaging 0.88
Posted On2015-04-16