Incidental Mutation 'IGL00951:Rb1'
ID 28965
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rb1
Ensembl Gene ENSMUSG00000022105
Gene Name RB transcriptional corepressor 1
Synonyms Rb-1, retinoblastoma 1, Rb, pRb
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00951
Quality Score
Status
Chromosome 14
Chromosomal Location 73430298-73563446 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 73559512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 64 (V64D)
Ref Sequence ENSEMBL: ENSMUSP00000022701 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022701] [ENSMUST00000164624]
AlphaFold P13405
Predicted Effect probably damaging
Transcript: ENSMUST00000022701
AA Change: V64D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: V64D

DomainStartEndE-ValueType
low complexity region 2 28 N/A INTRINSIC
low complexity region 37 53 N/A INTRINSIC
DUF3452 97 223 4.59e-25 SMART
RB_A 367 567 5.53e-92 SMART
CYCLIN 653 740 1.62e-5 SMART
Rb_C 761 920 1.28e-96 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164624
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 a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Armc8 C A 9: 99,387,757 (GRCm39) R388L probably benign Het
Bcan T C 3: 87,901,481 (GRCm39) E407G probably damaging Het
Brms1l A G 12: 55,912,834 (GRCm39) I276V possibly damaging Het
Brpf1 C A 6: 113,299,514 (GRCm39) D1182E probably damaging Het
Clpb A G 7: 101,400,467 (GRCm39) M268V probably benign Het
Cpne8 A T 15: 90,486,096 (GRCm39) probably benign Het
Ddx25 A T 9: 35,464,131 (GRCm39) probably null Het
Dgki A G 6: 36,977,094 (GRCm39) M672T probably damaging Het
Fhdc1 T C 3: 84,371,620 (GRCm39) T112A possibly damaging Het
Galnt7 A T 8: 58,036,858 (GRCm39) M177K probably damaging Het
Gucy1a1 T C 3: 82,018,498 (GRCm39) D113G probably benign Het
Hp T C 8: 110,304,129 (GRCm39) D24G possibly damaging Het
Jak2 A G 19: 29,276,983 (GRCm39) R847G probably damaging Het
Lama2 A T 10: 26,906,281 (GRCm39) D2391E probably benign Het
Mpzl1 A G 1: 165,433,391 (GRCm39) F87L probably damaging Het
Ms4a4d A T 19: 11,532,285 (GRCm39) I144F probably benign Het
Or5h18 G A 16: 58,848,216 (GRCm39) T18I probably benign Het
Or5h23 A C 16: 58,906,756 (GRCm39) L30R possibly damaging Het
Or5i1 A T 2: 87,612,883 (GRCm39) I2F probably benign Het
Or6c219 A G 10: 129,781,581 (GRCm39) S2P probably damaging Het
Or6d14 G A 6: 116,534,027 (GRCm39) V214I probably benign Het
Prr16 A G 18: 51,436,411 (GRCm39) R297G probably damaging Het
Ralgps1 A C 2: 33,163,614 (GRCm39) L148V probably damaging Het
Rara A G 11: 98,858,992 (GRCm39) D150G probably benign Het
Ros1 A G 10: 52,019,348 (GRCm39) Y742H probably damaging Het
Rpl7a A G 2: 26,802,441 (GRCm39) D160G possibly damaging Het
Sdccag8 A G 1: 176,705,568 (GRCm39) M461V possibly damaging Het
Tagln T A 9: 45,842,170 (GRCm39) N141I probably benign Het
Tas2r140 A T 6: 40,468,913 (GRCm39) R248* probably null Het
Ube2j2 C T 4: 156,030,834 (GRCm39) probably benign Het
Ulk1 A G 5: 110,940,270 (GRCm39) C384R possibly damaging Het
Ush2a A T 1: 187,995,662 (GRCm39) E144D probably benign Het
Vkorc1l1 C T 5: 130,011,108 (GRCm39) T144I probably benign Het
Zfp235 T C 7: 23,836,505 (GRCm39) F17S probably damaging Het
Other mutations in Rb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00497:Rb1 APN 14 73,502,038 (GRCm39) missense probably damaging 1.00
IGL01152:Rb1 APN 14 73,443,310 (GRCm39) missense probably damaging 1.00
IGL01339:Rb1 APN 14 73,501,811 (GRCm39) critical splice acceptor site probably null
IGL01349:Rb1 APN 14 73,506,558 (GRCm39) missense probably damaging 1.00
IGL01390:Rb1 APN 14 73,532,439 (GRCm39) missense probably benign 0.02
IGL02066:Rb1 APN 14 73,435,974 (GRCm39) missense probably benign 0.06
IGL02207:Rb1 APN 14 73,443,525 (GRCm39) missense probably damaging 1.00
IGL02860:Rb1 APN 14 73,443,452 (GRCm39) missense probably damaging 1.00
IGL03370:Rb1 APN 14 73,520,306 (GRCm39) critical splice donor site probably null
rubidium UTSW 14 73,436,751 (GRCm39) missense probably damaging 1.00
P0028:Rb1 UTSW 14 73,502,068 (GRCm39) missense probably damaging 1.00
R0553:Rb1 UTSW 14 73,449,152 (GRCm39) nonsense probably null
R0563:Rb1 UTSW 14 73,454,207 (GRCm39) missense probably damaging 1.00
R0586:Rb1 UTSW 14 73,525,124 (GRCm39) intron probably benign
R0595:Rb1 UTSW 14 73,511,120 (GRCm39) missense probably damaging 1.00
R0755:Rb1 UTSW 14 73,434,653 (GRCm39) makesense probably null
R1480:Rb1 UTSW 14 73,500,042 (GRCm39) missense probably benign
R1513:Rb1 UTSW 14 73,559,524 (GRCm39) missense probably benign 0.00
R1752:Rb1 UTSW 14 73,525,064 (GRCm39) missense probably damaging 0.99
R1919:Rb1 UTSW 14 73,450,430 (GRCm39) nonsense probably null
R2010:Rb1 UTSW 14 73,532,433 (GRCm39) missense probably benign 0.16
R2087:Rb1 UTSW 14 73,517,692 (GRCm39) missense probably benign 0.09
R2152:Rb1 UTSW 14 73,526,165 (GRCm39) missense probably benign
R2167:Rb1 UTSW 14 73,449,091 (GRCm39) missense probably damaging 1.00
R3950:Rb1 UTSW 14 73,500,102 (GRCm39) missense probably damaging 1.00
R4183:Rb1 UTSW 14 73,435,966 (GRCm39) splice site probably null
R4225:Rb1 UTSW 14 73,506,631 (GRCm39) missense possibly damaging 0.58
R4306:Rb1 UTSW 14 73,500,135 (GRCm39) missense probably damaging 1.00
R4464:Rb1 UTSW 14 73,436,638 (GRCm39) splice site probably null
R4609:Rb1 UTSW 14 73,499,954 (GRCm39) splice site probably benign
R4671:Rb1 UTSW 14 73,511,116 (GRCm39) missense probably damaging 1.00
R4916:Rb1 UTSW 14 73,454,131 (GRCm39) missense probably damaging 1.00
R5160:Rb1 UTSW 14 73,501,895 (GRCm39) synonymous silent
R5210:Rb1 UTSW 14 73,436,751 (GRCm39) missense probably damaging 1.00
R5320:Rb1 UTSW 14 73,450,566 (GRCm39) nonsense probably null
R5436:Rb1 UTSW 14 73,450,580 (GRCm39) splice site probably null
R5467:Rb1 UTSW 14 73,449,060 (GRCm39) missense possibly damaging 0.92
R5592:Rb1 UTSW 14 73,449,187 (GRCm39) missense probably damaging 1.00
R6326:Rb1 UTSW 14 73,435,974 (GRCm39) missense probably benign 0.06
R6363:Rb1 UTSW 14 73,525,081 (GRCm39) missense probably benign 0.01
R6395:Rb1 UTSW 14 73,436,636 (GRCm39) missense probably damaging 1.00
R6414:Rb1 UTSW 14 73,520,414 (GRCm39) missense unknown
R6460:Rb1 UTSW 14 73,515,894 (GRCm39) missense probably benign 0.06
R6503:Rb1 UTSW 14 73,443,320 (GRCm39) missense probably benign 0.08
R6519:Rb1 UTSW 14 73,535,503 (GRCm39) missense probably benign 0.00
R6671:Rb1 UTSW 14 73,434,706 (GRCm39) missense probably damaging 1.00
R7026:Rb1 UTSW 14 73,535,539 (GRCm39) missense probably benign 0.00
R7103:Rb1 UTSW 14 73,500,084 (GRCm39) missense probably damaging 1.00
R7263:Rb1 UTSW 14 73,520,363 (GRCm39) nonsense probably null
R7478:Rb1 UTSW 14 73,506,577 (GRCm39) missense probably damaging 1.00
R7519:Rb1 UTSW 14 73,502,048 (GRCm39) missense probably damaging 1.00
R7817:Rb1 UTSW 14 73,435,983 (GRCm39) missense probably damaging 1.00
R8323:Rb1 UTSW 14 73,503,023 (GRCm39) missense probably benign 0.09
R8809:Rb1 UTSW 14 73,503,000 (GRCm39) missense probably damaging 1.00
R8813:Rb1 UTSW 14 73,500,027 (GRCm39) missense probably damaging 0.96
R8849:Rb1 UTSW 14 73,434,709 (GRCm39) missense probably damaging 1.00
R9272:Rb1 UTSW 14 73,517,602 (GRCm39) missense possibly damaging 0.85
R9482:Rb1 UTSW 14 73,443,493 (GRCm39) missense probably damaging 1.00
R9606:Rb1 UTSW 14 73,517,573 (GRCm39) missense probably damaging 0.98
Posted On 2013-04-17