Incidental Mutation 'IGL02064:Rbbp7'
ID 185555
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp7
Ensembl Gene ENSMUSG00000031353
Gene Name retinoblastoma binding protein 7, chromatin remodeling factor
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02064
Quality Score
Status
Chromosome X
Chromosomal Location 161543398-161562088 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 161552783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033720] [ENSMUST00000112326] [ENSMUST00000112327]
AlphaFold Q60973
Predicted Effect probably benign
Transcript: ENSMUST00000033720
AA Change: T111A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033720
Gene: ENSMUSG00000031353
AA Change: T111A

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 18 87 1.9e-27 PFAM
WD40 113 152 2.57e0 SMART
WD40 165 205 1.78e-5 SMART
WD40 215 255 4.18e-2 SMART
WD40 261 301 3.07e-9 SMART
WD40 305 345 2.78e-7 SMART
WD40 362 402 8.75e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000112326
AA Change: T111A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107945
Gene: ENSMUSG00000031353
AA Change: T111A

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 17 88 2.6e-32 PFAM
WD40 113 152 2.57e0 SMART
WD40 165 205 1.78e-5 SMART
WD40 215 255 4.18e-2 SMART
WD40 261 301 3.07e-9 SMART
WD40 305 345 2.78e-7 SMART
Predicted Effect probably null
Transcript: ENSMUST00000112327
SMART Domains Protein: ENSMUSP00000107946
Gene: ENSMUSG00000031353

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 17 88 2.9e-32 PFAM
WD40 104 143 2.57e0 SMART
WD40 156 196 1.78e-5 SMART
WD40 206 246 4.18e-2 SMART
WD40 252 292 3.07e-9 SMART
WD40 296 336 2.78e-7 SMART
WD40 353 393 8.75e-5 SMART
Predicted Effect unknown
Transcript: ENSMUST00000138791
AA Change: T138A
SMART Domains Protein: ENSMUSP00000114734
Gene: ENSMUSG00000031353
AA Change: T138A

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:CAF1C_H4-bd 46 115 5.9e-25 PFAM
WD40 141 180 2.57e0 SMART
WD40 193 233 1.78e-5 SMART
Predicted Effect probably null
Transcript: ENSMUST00000143681
SMART Domains Protein: ENSMUSP00000115354
Gene: ENSMUSG00000031353

DomainStartEndE-ValueType
WD40 33 73 8.75e-5 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This protein is a ubiquitously expressed nuclear protein and belongs to a highly conserved subfamily of WD-repeat proteins. It is found among several proteins that binds directly to retinoblastoma protein, which regulates cell proliferation. The encoded protein is found in many histone deacetylase complexes, including mSin3 co-repressor complex. It is also present in protein complexes involved in chromatin assembly. This protein can interact with BRCA1 tumor-suppressor gene and may have a role in the regulation of cell proliferation and differentiation. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele exhibit posterior patterning and embryo turning defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm3 T C 3: 59,784,463 (GRCm39) L312P probably damaging Het
Acap2 A C 16: 30,946,146 (GRCm39) W284G probably damaging Het
Acsf3 T C 8: 123,506,986 (GRCm39) L93P possibly damaging Het
Agbl2 G T 2: 90,614,368 (GRCm39) probably benign Het
Arap3 C T 18: 38,124,754 (GRCm39) G242D probably damaging Het
Asxl3 G A 18: 22,657,401 (GRCm39) V1804I possibly damaging Het
Bnc1 C A 7: 81,623,251 (GRCm39) V659L probably benign Het
Brd8 C T 18: 34,735,780 (GRCm39) S899N probably damaging Het
Car9 A G 4: 43,507,363 (GRCm39) E103G probably benign Het
Chrm4 A G 2: 91,758,176 (GRCm39) T195A probably damaging Het
Cldn10 T C 14: 119,092,424 (GRCm39) I8T probably damaging Het
Col12a1 G A 9: 79,599,654 (GRCm39) S833F probably benign Het
Cryba2 T A 1: 74,929,720 (GRCm39) D139V possibly damaging Het
Emp1 T A 6: 135,354,210 (GRCm39) M1K probably null Het
Entrep3 C T 3: 89,095,903 (GRCm39) R545* probably null Het
Exosc4 C A 15: 76,213,836 (GRCm39) A220E probably damaging Het
Fryl A G 5: 73,282,112 (GRCm39) probably benign Het
Grid2 C T 6: 64,040,919 (GRCm39) T287I probably benign Het
Grifin C T 5: 140,550,494 (GRCm39) A7T probably damaging Het
Gzmg T C 14: 56,394,798 (GRCm39) K157E probably benign Het
Kcnq2 A T 2: 180,750,819 (GRCm39) I340N probably damaging Het
Klrb1 T A 6: 128,687,600 (GRCm39) H98L probably benign Het
Krt90 T C 15: 101,471,088 (GRCm39) H58R possibly damaging Het
Krtap5-2 C A 7: 141,729,468 (GRCm39) G71C unknown Het
Krtap7-1 A T 16: 89,305,011 (GRCm39) M47K probably benign Het
Lmntd1 T A 6: 145,373,002 (GRCm39) probably null Het
Ly6g2 A G 15: 75,093,505 (GRCm39) probably benign Het
Musk A G 4: 58,286,128 (GRCm39) N6S possibly damaging Het
Or2aj4 A G 16: 19,385,298 (GRCm39) C112R probably damaging Het
Or51a39 A G 7: 102,362,808 (GRCm39) F271L probably damaging Het
Or56a42-ps1 A T 7: 104,776,241 (GRCm39) F89Y possibly damaging Het
Or5p58 T G 7: 107,694,454 (GRCm39) T108P probably benign Het
Or8c15 T A 9: 38,120,874 (GRCm39) I122N probably damaging Het
Pcdh19 A G X: 132,586,719 (GRCm39) M432T probably benign Het
Prdm1 A G 10: 44,317,338 (GRCm39) F495S probably damaging Het
Prkar2a T C 9: 108,610,403 (GRCm39) Y211H possibly damaging Het
Ralgapa1 C A 12: 55,754,862 (GRCm39) G1143V probably damaging Het
Scel C A 14: 103,770,762 (GRCm39) H65Q probably damaging Het
Sec24d T C 3: 123,137,463 (GRCm39) probably benign Het
Sfswap C A 5: 129,637,860 (GRCm39) T839N probably benign Het
Slc15a1 T C 14: 121,699,911 (GRCm39) I636V possibly damaging Het
Slc15a1 G T 14: 121,699,886 (GRCm39) P644H probably benign Het
Slc6a21 T A 7: 44,935,883 (GRCm39) I38N possibly damaging Het
Sucla2 C T 14: 73,816,913 (GRCm39) Q218* probably null Het
Tbc1d14 A T 5: 36,665,019 (GRCm39) L237* probably null Het
Trpm7 C T 2: 126,639,863 (GRCm39) E1578K probably damaging Het
Ttc17 G A 2: 94,161,012 (GRCm39) T896I probably damaging Het
Virma A G 4: 11,513,163 (GRCm39) D339G possibly damaging Het
Vmn2r54 T A 7: 12,349,533 (GRCm39) Y683F probably benign Het
Xrra1 T A 7: 99,563,411 (GRCm39) L466Q probably damaging Het
Other mutations in Rbbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Rbbp7 APN X 161,552,939 (GRCm39) unclassified probably benign
IGL01414:Rbbp7 APN X 161,557,577 (GRCm39) missense probably damaging 1.00
IGL02089:Rbbp7 APN X 161,554,052 (GRCm39) missense probably benign 0.13
Posted On 2014-05-07