Incidental Mutation 'IGL01389:Rbbp7'
ID79159
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp7
Ensembl Gene ENSMUSG00000031353
Gene Nameretinoblastoma binding protein 7, chromatin remodeling factor
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01389
Quality Score
Status
ChromosomeX
Chromosomal Location162760402-162779092 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 162769943 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000033720] [ENSMUST00000112326] [ENSMUST00000112327]
Predicted Effect probably benign
Transcript: ENSMUST00000033720
SMART Domains Protein: ENSMUSP00000033720
Gene: ENSMUSG00000031353

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
SMART Domains Protein: ENSMUSP00000107945
Gene: ENSMUSG00000031353

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 benign
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 probably benign
Transcript: ENSMUST00000138791
SMART Domains Protein: ENSMUSP00000114734
Gene: ENSMUSG00000031353

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 benign
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc163 T C 4: 116,711,306 probably benign Het
Ceacam5 T G 7: 17,747,375 V349G probably damaging Het
Ces2e T A 8: 104,929,565 D169E probably benign Het
Cfh G T 1: 140,154,639 T150K probably benign Het
Chrd A G 16: 20,741,225 M859V possibly damaging Het
Clca2 C T 3: 145,077,868 probably null Het
Crocc T C 4: 141,022,112 E1536G probably damaging Het
Dhx57 A G 17: 80,281,223 V67A probably benign Het
Dock11 T C X: 35,993,048 V576A probably benign Het
Ighv1-85 A G 12: 116,000,051 S110P probably damaging Het
Lyg1 G A 1: 37,949,930 P70S probably damaging Het
Numbl T G 7: 27,281,047 F485V possibly damaging Het
Olfr1269 A T 2: 90,119,068 C177S probably damaging Het
Pclo A G 5: 14,714,521 E1051G probably damaging Het
Pdzd2 T C 15: 12,374,626 S1808G possibly damaging Het
Rad51b T A 12: 79,302,553 H54Q probably benign Het
Rhbdl2 G T 4: 123,829,657 V285L probably benign Het
Slc22a16 T A 10: 40,585,135 M311K probably damaging Het
Slc22a21 A G 11: 53,979,581 S93P probably damaging Het
Stt3b T C 9: 115,253,900 E488G probably benign Het
Tas2r108 A G 6: 40,493,932 H114R possibly damaging Het
Tcaim A G 9: 122,814,562 E109G possibly damaging Het
Tsc22d2 A G 3: 58,416,238 T184A probably damaging Het
Vmn2r2 G T 3: 64,117,009 T717N probably damaging Het
Vps25 C T 11: 101,254,035 Q20* probably null Het
Xiap T C X: 42,094,552 F52L probably damaging Het
Other mutations in Rbbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01414:Rbbp7 APN X 162774581 missense probably damaging 1.00
IGL02064:Rbbp7 APN X 162769787 splice site probably null
IGL02089:Rbbp7 APN X 162771056 missense probably benign 0.13
Posted On2013-11-05