Incidental Mutation 'IGL02228:Rbbp4'
ID 285382
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp4
Ensembl Gene ENSMUSG00000057236
Gene Name retinoblastoma binding protein 4, chromatin remodeling factor
Synonyms CAF-1 p48 subunit, RBAP48
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL02228
Quality Score
Status
Chromosome 4
Chromosomal Location 129307100-129335370 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129317750 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 370 (H370Q)
Ref Sequence ENSEMBL: ENSMUSP00000099658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102598]
AlphaFold Q60972
Predicted Effect probably damaging
Transcript: ENSMUST00000102598
AA Change: H370Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236
AA Change: H370Q

DomainStartEndE-ValueType
Pfam:CAF1C_H4-bd 19 88 1.3e-28 PFAM
WD40 112 153 8.25e0 SMART
WD40 166 206 2.07e-6 SMART
WD40 216 256 4.48e-2 SMART
WD40 262 302 5.81e-10 SMART
WD40 306 346 3.93e-7 SMART
WD40 363 403 1.08e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181237
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. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,016,964 V282A probably benign Het
Acsm5 A G 7: 119,531,866 D169G probably damaging Het
Adam8 C T 7: 139,988,806 probably null Het
Agpat1 T C 17: 34,610,562 F37L possibly damaging Het
Asah2 A T 19: 32,016,714 D410E probably benign Het
Atg2a T A 19: 6,246,800 V378D probably benign Het
Atp1a4 T C 1: 172,254,885 Y130C possibly damaging Het
B020004J07Rik T C 4: 101,836,858 Y276C probably benign Het
Bnc2 T C 4: 84,293,076 H419R possibly damaging Het
Capza3 A G 6: 140,041,915 D80G probably benign Het
Col6a4 C T 9: 106,068,078 D946N probably benign Het
Crat T C 2: 30,413,182 H31R probably damaging Het
Dsc2 A G 18: 20,043,733 V419A probably damaging Het
Ebf1 T C 11: 44,972,912 V363A probably damaging Het
Gm13119 A G 4: 144,362,661 K183R probably damaging Het
Lcp2 T C 11: 34,047,424 F24S probably damaging Het
Lgmn G A 12: 102,395,714 T376I probably benign Het
Lrrc8d C T 5: 105,811,864 L47F probably benign Het
Mier1 T A 4: 103,131,062 M44K possibly damaging Het
Ogfod1 C A 8: 94,062,987 Q439K probably benign Het
Olfr303 A C 7: 86,395,078 I140S possibly damaging Het
Pcgf6 A C 19: 47,047,982 F216C probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Reln A G 5: 21,904,731 V3127A probably damaging Het
Rttn T A 18: 89,042,231 V1019E probably damaging Het
Serpina9 C T 12: 104,008,600 R98Q probably benign Het
Slc16a7 C A 10: 125,230,798 G324V probably damaging Het
Slc22a3 A G 17: 12,459,810 L209P probably damaging Het
Tet1 T A 10: 62,813,734 T1695S probably damaging Het
Tulp3 G A 6: 128,334,485 T74M probably damaging Het
Ube3a A G 7: 59,288,396 probably benign Het
Ufl1 A T 4: 25,281,686 S23T probably benign Het
Unc80 A G 1: 66,608,428 E1509G possibly damaging Het
Wnk2 A T 13: 49,056,940 I1801N probably damaging Het
Other mutations in Rbbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Rbbp4 APN 4 129310153 missense probably benign 0.06
IGL01150:Rbbp4 APN 4 129322875 splice site probably benign
R0864:Rbbp4 UTSW 4 129320551 splice site probably benign
R1056:Rbbp4 UTSW 4 129317649 missense probably damaging 0.99
R3717:Rbbp4 UTSW 4 129328632 missense probably benign 0.02
R3762:Rbbp4 UTSW 4 129334551 missense probably damaging 1.00
R6148:Rbbp4 UTSW 4 129321958 missense probably benign
R6593:Rbbp4 UTSW 4 129322375 missense probably damaging 1.00
R6676:Rbbp4 UTSW 4 129328621 missense probably benign
R7741:Rbbp4 UTSW 4 129334563 missense probably damaging 0.99
R8045:Rbbp4 UTSW 4 129317900 missense probably benign 0.00
R9010:Rbbp4 UTSW 4 129322387 missense probably benign
R9352:Rbbp4 UTSW 4 129317705 missense probably benign 0.36
R9629:Rbbp4 UTSW 4 129318450 missense probably damaging 1.00
Posted On 2015-04-16