Incidental Mutation 'IGL02089:Rbbp7'
ID279377
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 #IGL02089
Quality Score
Status
ChromosomeX
Chromosomal Location162760402-162779092 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 162771056 bp
ZygosityHeterozygous
Amino Acid Change Proline to Glutamine at position 162 (P162Q)
Ref Sequence ENSEMBL: ENSMUSP00000033720 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033720] [ENSMUST00000112326] [ENSMUST00000112327]
Predicted Effect probably benign
Transcript: ENSMUST00000033720
AA Change: P162Q

PolyPhen 2 Score 0.132 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000033720
Gene: ENSMUSG00000031353
AA Change: P162Q

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: P162Q

PolyPhen 2 Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000107945
Gene: ENSMUSG00000031353
AA Change: P162Q

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
AA Change: P153Q

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000107946
Gene: ENSMUSG00000031353
AA Change: P153Q

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: P189Q
SMART Domains Protein: ENSMUSP00000114734
Gene: ENSMUSG00000031353
AA Change: P189Q

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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330160F10Rik C T 11: 69,060,187 silent Het
Adck1 G T 12: 88,446,710 V271F probably damaging Het
Aggf1 T C 13: 95,370,929 D116G probably benign Het
Anapc1 A T 2: 128,663,933 V661E probably damaging Het
Apoa5 T C 9: 46,269,139 probably null Het
Atp8a2 C T 14: 60,026,920 probably null Het
Bnipl A T 3: 95,250,266 probably benign Het
Cbs T G 17: 31,615,545 D490A probably benign Het
Chrdl1 G T X: 143,303,514 H199N possibly damaging Het
D3Ertd254e T C 3: 36,164,728 F300S possibly damaging Het
Dcaf1 C T 9: 106,863,111 T1232I probably benign Het
Ddx19b T C 8: 111,008,845 probably benign Het
Ephb4 A G 5: 137,370,762 K805E probably damaging Het
Ergic3 A G 2: 156,010,475 N135D probably benign Het
Fbxw18 C T 9: 109,701,322 V74I probably benign Het
Fmo4 G T 1: 162,799,080 T299N probably benign Het
Gmeb1 T C 4: 132,225,836 K540E probably damaging Het
H60c T A 10: 3,259,826 S154C possibly damaging Het
Herc1 T C 9: 66,480,869 L3812S probably damaging Het
Hipk3 T C 2: 104,431,379 D937G probably damaging Het
Ift122 A G 6: 115,925,437 D1079G probably benign Het
Il6st T C 13: 112,495,240 W438R probably benign Het
Lypla2 C T 4: 135,969,621 V117I probably benign Het
Mapk8ip1 T C 2: 92,385,875 Y516C probably damaging Het
Mmp24 G A 2: 155,812,293 G397D probably damaging Het
Muc4 G A 16: 32,751,313 S397N possibly damaging Het
Muc5b T G 7: 141,863,250 V3311G probably benign Het
Naca A G 10: 128,036,489 probably benign Het
Nrxn1 A G 17: 91,088,401 V109A probably benign Het
Nup210 T G 6: 91,076,698 D279A probably benign Het
Olfr1097 A G 2: 86,891,116 S20P possibly damaging Het
Olfr981 A T 9: 40,022,770 I126F probably damaging Het
Pappa T A 4: 65,156,124 V305E possibly damaging Het
Pcdh19 A T X: 133,588,496 M977K probably benign Het
Pdzph1 T A 17: 58,967,339 I837F possibly damaging Het
Phip A T 9: 82,871,319 L1791M probably damaging Het
Pkdrej C T 15: 85,816,288 V1816I possibly damaging Het
Ptprz1 G A 6: 23,033,448 V1063M probably damaging Het
Qprt A T 7: 127,108,356 M220K probably damaging Het
R3hcc1 T C 14: 69,700,026 K391E possibly damaging Het
Rev3l A T 10: 39,825,099 N1864I probably damaging Het
Rims1 A G 1: 22,630,475 I84T possibly damaging Het
Rnase2b A T 14: 51,162,783 K107I probably benign Het
Sbf1 C A 15: 89,302,505 E864* probably null Het
Strip2 G A 6: 29,917,180 probably benign Het
Stx4a T C 7: 127,848,398 I238T probably damaging Het
Tbc1d2b C T 9: 90,222,359 V577I possibly damaging Het
Tex38 T C 4: 115,780,394 T71A possibly damaging Het
Usp38 T C 8: 80,985,714 E564G possibly damaging Het
Vmn2r72 A T 7: 85,738,166 V730E probably benign Het
Wwp2 T A 8: 107,554,057 L644Q probably damaging Het
Zpld1 A G 16: 55,251,611 I95T probably benign Het
Other mutations in Rbbp7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Rbbp7 APN X 162769943 unclassified probably benign
IGL01414:Rbbp7 APN X 162774581 missense probably damaging 1.00
IGL02064:Rbbp7 APN X 162769787 splice site probably null
Posted On2015-04-16