Incidental Mutation 'IGL00823:Rbbp5'
ID 13773
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp5
Ensembl Gene ENSMUSG00000026439
Gene Name retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit
Synonyms 4933411J24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL00823
Quality Score
Status
Chromosome 1
Chromosomal Location 132405103-132433397 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 132417444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 88 (V88I)
Ref Sequence ENSEMBL: ENSMUSP00000140790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027700] [ENSMUST00000187505] [ENSMUST00000188575] [ENSMUST00000189786] [ENSMUST00000190825] [ENSMUST00000190997]
AlphaFold Q8BX09
Predicted Effect probably benign
Transcript: ENSMUST00000027700
SMART Domains Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439

DomainStartEndE-ValueType
WD40 14 52 2.31e-1 SMART
WD40 55 94 7.33e-7 SMART
Blast:WD40 97 177 2e-31 BLAST
WD40 182 226 8.29e-1 SMART
WD40 241 280 1.28e1 SMART
WD40 283 322 2.97e0 SMART
low complexity region 344 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000187505
SMART Domains Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439

DomainStartEndE-ValueType
Blast:WD40 1 52 9e-13 BLAST
WD40 55 99 5.1e-3 SMART
WD40 114 153 7.9e-2 SMART
WD40 156 195 1.9e-2 SMART
low complexity region 217 231 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000188575
AA Change: V74I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000140344
Gene: ENSMUSG00000026439
AA Change: V74I

DomainStartEndE-ValueType
Blast:WD40 14 55 9e-9 BLAST
SCOP:d1gxra_ 34 87 8e-8 SMART
Blast:WD40 58 107 8e-16 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000189786
AA Change: V88I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000140790
Gene: ENSMUSG00000026439
AA Change: V88I

DomainStartEndE-ValueType
WD40 1 27 1.2e0 SMART
WD40 30 69 4.6e-9 SMART
Blast:WD40 72 149 2e-32 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000190825
AA Change: V113I

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: V113I

DomainStartEndE-ValueType
WD40 14 52 1.4e-3 SMART
WD40 55 94 4.6e-9 SMART
Blast:WD40 97 177 2e-31 BLAST
WD40 182 226 5.1e-3 SMART
WD40 241 280 7.9e-2 SMART
WD40 283 322 1.9e-2 SMART
low complexity region 344 358 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000190997
AA Change: V113I

PolyPhen 2 Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: V113I

DomainStartEndE-ValueType
WD40 14 52 2.31e-1 SMART
WD40 55 94 7.33e-7 SMART
Blast:WD40 97 177 2e-31 BLAST
WD40 182 226 8.29e-1 SMART
WD40 241 280 1.28e1 SMART
WD40 283 322 2.97e0 SMART
low complexity region 344 358 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 77,026,381 (GRCm39) probably benign Het
Adam5 T C 8: 25,308,758 (GRCm39) E39G probably benign Het
Anapc7 G A 5: 122,571,540 (GRCm39) W205* probably null Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arhgef10 T A 8: 14,990,378 (GRCm39) probably benign Het
Atg5 A G 10: 44,239,040 (GRCm39) T274A probably benign Het
Baiap2l2 G T 15: 79,168,765 (GRCm39) probably benign Het
Brap T A 5: 121,803,290 (GRCm39) M146K probably damaging Het
Brpf1 T C 6: 113,298,847 (GRCm39) S1074P probably benign Het
Camta1 A C 4: 151,169,058 (GRCm39) I231R probably benign Het
Ccdc15 C T 9: 37,231,709 (GRCm39) G205D probably benign Het
Cd6 G T 19: 10,773,758 (GRCm39) probably benign Het
Cdh17 T G 4: 11,783,412 (GRCm39) S219R possibly damaging Het
Cgn G A 3: 94,674,519 (GRCm39) R873W probably damaging Het
Ctnna3 C T 10: 63,373,322 (GRCm39) P41L possibly damaging Het
Dmbt1 T C 7: 130,659,888 (GRCm39) W484R probably benign Het
Dmd A G X: 83,469,419 (GRCm39) probably null Het
Dnah17 C T 11: 117,937,987 (GRCm39) V3347I probably benign Het
Fgd5 T A 6: 91,965,440 (GRCm39) S400T possibly damaging Het
Kitl C A 10: 99,923,206 (GRCm39) probably benign Het
Lamc3 A T 2: 31,808,533 (GRCm39) D763V probably damaging Het
Lgmn T C 12: 102,364,435 (GRCm39) probably benign Het
Lpcat2 T G 8: 93,591,598 (GRCm39) W81G possibly damaging Het
Myh13 A G 11: 67,246,773 (GRCm39) I1165V probably benign Het
Nf1 A G 11: 79,456,343 (GRCm39) D599G probably damaging Het
Nin T C 12: 70,061,567 (GRCm39) N2099S probably benign Het
Nlrc4 T C 17: 74,754,985 (GRCm39) D77G probably benign Het
Otub1 A G 19: 7,181,416 (GRCm39) probably benign Het
Pabir2 A T X: 52,334,208 (GRCm39) C222S probably damaging Het
Pah A G 10: 87,406,193 (GRCm39) Y174C probably null Het
Scn1a C T 2: 66,155,279 (GRCm39) R560H probably benign Het
Snx5 T C 2: 144,097,485 (GRCm39) I217V probably benign Het
Syne2 T C 12: 76,036,016 (GRCm39) S3769P probably damaging Het
Tent2 T C 13: 93,322,905 (GRCm39) T15A probably benign Het
Tmem255b T C 8: 13,507,054 (GRCm39) M261T probably benign Het
Top3b T C 16: 16,705,486 (GRCm39) I417T probably damaging Het
Tspan2 T C 3: 102,665,549 (GRCm39) probably null Het
Ttn T C 2: 76,540,057 (GRCm39) T34310A possibly damaging Het
Ush2a G A 1: 188,643,640 (GRCm39) C4334Y possibly damaging Het
Wdpcp A G 11: 21,609,995 (GRCm39) D21G probably damaging Het
Yy2 A C X: 156,351,207 (GRCm39) D186E probably benign Het
Other mutations in Rbbp5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Rbbp5 APN 1 132,420,339 (GRCm39) missense probably benign 0.07
IGL01577:Rbbp5 APN 1 132,420,393 (GRCm39) missense possibly damaging 0.68
IGL01728:Rbbp5 APN 1 132,425,818 (GRCm39) missense probably benign
R0097:Rbbp5 UTSW 1 132,418,227 (GRCm39) missense possibly damaging 0.81
R0420:Rbbp5 UTSW 1 132,421,582 (GRCm39) missense possibly damaging 0.88
R1540:Rbbp5 UTSW 1 132,422,020 (GRCm39) nonsense probably null
R1965:Rbbp5 UTSW 1 132,422,035 (GRCm39) missense probably damaging 1.00
R2419:Rbbp5 UTSW 1 132,421,564 (GRCm39) missense possibly damaging 0.95
R2924:Rbbp5 UTSW 1 132,420,401 (GRCm39) critical splice donor site probably null
R3810:Rbbp5 UTSW 1 132,420,325 (GRCm39) missense probably damaging 0.98
R3811:Rbbp5 UTSW 1 132,420,325 (GRCm39) missense probably damaging 0.98
R4234:Rbbp5 UTSW 1 132,412,496 (GRCm39) missense probably benign 0.08
R5024:Rbbp5 UTSW 1 132,418,226 (GRCm39) missense possibly damaging 0.65
R5166:Rbbp5 UTSW 1 132,418,303 (GRCm39) missense possibly damaging 0.60
R5435:Rbbp5 UTSW 1 132,422,013 (GRCm39) missense probably damaging 1.00
R6018:Rbbp5 UTSW 1 132,422,078 (GRCm39) missense probably damaging 1.00
R6172:Rbbp5 UTSW 1 132,424,554 (GRCm39) missense possibly damaging 0.89
R7500:Rbbp5 UTSW 1 132,421,879 (GRCm39) missense probably benign 0.35
R9155:Rbbp5 UTSW 1 132,422,023 (GRCm39) missense probably damaging 1.00
R9168:Rbbp5 UTSW 1 132,417,464 (GRCm39) missense probably benign 0.28
R9273:Rbbp5 UTSW 1 132,420,304 (GRCm39) missense probably benign 0.00
X0019:Rbbp5 UTSW 1 132,417,436 (GRCm39) missense probably damaging 1.00
X0025:Rbbp5 UTSW 1 132,417,396 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06