Incidental Mutation 'IGL01414:Rbbp7'
ID80167
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 #IGL01414
Quality Score
Status
ChromosomeX
Chromosomal Location162760402-162779092 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 162774581 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 322 (I322N)
Ref Sequence ENSEMBL: ENSMUSP00000107946 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033720] [ENSMUST00000041370] [ENSMUST00000112316] [ENSMUST00000112326] [ENSMUST00000112327]
Predicted Effect probably damaging
Transcript: ENSMUST00000033720
AA Change: I331N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033720
Gene: ENSMUSG00000031353
AA Change: I331N

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: ENSMUST00000041370
SMART Domains Protein: ENSMUSP00000038615
Gene: ENSMUSG00000038344

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 136 445 4.8e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112316
SMART Domains Protein: ENSMUSP00000107935
Gene: ENSMUSG00000038344

DomainStartEndE-ValueType
low complexity region 3 29 N/A INTRINSIC
Pfam:Taxilin 84 396 1.2e-118 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112326
AA Change: I331N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107945
Gene: ENSMUSG00000031353
AA Change: I331N

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 damaging
Transcript: ENSMUST00000112327
AA Change: I322N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107946
Gene: ENSMUSG00000031353
AA Change: I322N

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 noncoding transcript
Transcript: ENSMUST00000131463
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 unknown
Transcript: ENSMUST00000143681
AA Change: I1N
SMART Domains Protein: ENSMUSP00000115354
Gene: ENSMUSG00000031353
AA Change: I1N

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
Agrn C T 4: 156,195,239 probably null Het
Arhgap45 T A 10: 80,027,104 S705T probably damaging Het
B4galt4 A G 16: 38,757,791 E200G probably damaging Het
Cdh12 A T 15: 21,492,689 N265Y probably damaging Het
Cerk T A 15: 86,159,142 T153S probably benign Het
Ddx58 C A 4: 40,222,176 V368F probably damaging Het
Ect2 A T 3: 27,127,729 probably benign Het
Ep300 T A 15: 81,627,266 probably benign Het
Gm26920 T G 7: 30,068,078 probably benign Het
Ighv1-66 T C 12: 115,593,309 Y51C probably benign Het
Ints1 T C 5: 139,758,498 D1503G probably benign Het
Lhpp A G 7: 132,642,520 K189E probably damaging Het
Myh13 A G 11: 67,342,472 T606A probably benign Het
Naip1 T C 13: 100,409,173 probably null Het
Nckap5 G T 1: 126,528,713 Q38K probably damaging Het
Nlgn3 A G X: 101,302,260 I93V probably benign Het
Nxpe2 A G 9: 48,320,623 F345L probably benign Het
Pcdhb22 A G 18: 37,519,496 N339S probably damaging Het
Rprd2 A T 3: 95,765,525 F855L probably damaging Het
Scin A T 12: 40,124,699 H128Q probably damaging Het
Sema4g A G 19: 44,997,996 Y337C probably damaging Het
Stx6 C T 1: 155,201,945 R233C possibly damaging Het
Supt16 C T 14: 52,177,032 E438K probably benign Het
Trem3 G T 17: 48,249,815 V105L probably benign Het
Vmn2r108 T A 17: 20,471,680 M194L probably benign Het
Zfyve16 A T 13: 92,522,196 D402E probably benign Het
Other mutations in Rbbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Rbbp7 APN X 162769943 unclassified probably benign
IGL02064:Rbbp7 APN X 162769787 splice site probably null
IGL02089:Rbbp7 APN X 162771056 missense probably benign 0.13
Posted On2013-11-05