Incidental Mutation 'IGL01150:Rbbp4'
ID 50996
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
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01150
Quality Score
Status
Chromosome 4
Chromosomal Location 129200893-129229163 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 129216668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102598]
AlphaFold Q60972
Predicted Effect probably benign
Transcript: ENSMUST00000102598
SMART Domains Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236

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: ENSMUST00000147183
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,752,550 (GRCm39) D507G possibly damaging Het
Actl6a A G 3: 32,766,313 (GRCm39) I60V probably benign Het
Adra2c T C 5: 35,438,485 (GRCm39) F419S probably damaging Het
Afap1l2 T C 19: 56,918,618 (GRCm39) Y105C probably damaging Het
Arid4b C T 13: 14,369,959 (GRCm39) Q1152* probably null Het
Arsj A G 3: 126,232,433 (GRCm39) D393G probably benign Het
Avp T C 2: 130,422,593 (GRCm39) probably benign Het
Cacna2d3 C T 14: 28,905,598 (GRCm39) V390I possibly damaging Het
Ccdc25 T A 14: 66,097,651 (GRCm39) M195K possibly damaging Het
Cdhr2 T A 13: 54,878,931 (GRCm39) S979T probably benign Het
Cog2 T C 8: 125,269,630 (GRCm39) F390S possibly damaging Het
Dennd5b A G 6: 148,969,583 (GRCm39) V290A probably benign Het
Ebf1 T C 11: 44,759,927 (GRCm39) L188P probably damaging Het
Galt T C 4: 41,757,786 (GRCm39) probably benign Het
Gm12830 C T 4: 114,702,261 (GRCm39) T141I unknown Het
Herc2 T A 7: 55,830,881 (GRCm39) W2965R probably damaging Het
Hrg A G 16: 22,777,909 (GRCm39) probably null Het
Ighv8-5 T C 12: 115,031,194 (GRCm39) Y115C probably damaging Het
Igkv12-89 A G 6: 68,812,127 (GRCm39) V14A probably benign Het
Nav2 A C 7: 49,102,269 (GRCm39) T295P probably benign Het
Niban1 T C 1: 151,593,472 (GRCm39) V719A probably benign Het
Nrg1 G A 8: 32,407,903 (GRCm39) T110I probably damaging Het
Or4c31 T C 2: 88,292,419 (GRCm39) V264A possibly damaging Het
Or51h1 A C 7: 102,308,699 (GRCm39) K224Q probably benign Het
Or7g29 A T 9: 19,286,535 (GRCm39) I214N probably damaging Het
Pclo T C 5: 14,726,926 (GRCm39) probably benign Het
Polg2 T C 11: 106,668,258 (GRCm39) probably null Het
Ptges G T 2: 30,782,720 (GRCm39) R111S probably damaging Het
Rundc3a T C 11: 102,284,602 (GRCm39) V34A probably benign Het
Scn3a C A 2: 65,327,709 (GRCm39) probably null Het
Sec14l3 T C 11: 4,026,238 (GRCm39) probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Svep1 T A 4: 58,070,302 (GRCm39) I2495F probably benign Het
Syne1 A G 10: 5,393,154 (GRCm39) S71P probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem161b C T 13: 84,440,526 (GRCm39) R133* probably null Het
Tnnc2 A T 2: 164,619,753 (GRCm39) I71N probably damaging Het
Vps13d T C 4: 144,875,845 (GRCm39) N1554S probably benign Het
Wfdc3 A T 2: 164,574,123 (GRCm39) probably benign Het
Zfp648 A T 1: 154,081,110 (GRCm39) H423L probably damaging Het
Other mutations in Rbbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Rbbp4 APN 4 129,203,946 (GRCm39) missense probably benign 0.06
IGL02228:Rbbp4 APN 4 129,211,543 (GRCm39) missense probably damaging 1.00
R0864:Rbbp4 UTSW 4 129,214,344 (GRCm39) splice site probably benign
R1056:Rbbp4 UTSW 4 129,211,442 (GRCm39) missense probably damaging 0.99
R3717:Rbbp4 UTSW 4 129,222,425 (GRCm39) missense probably benign 0.02
R3762:Rbbp4 UTSW 4 129,228,344 (GRCm39) missense probably damaging 1.00
R6148:Rbbp4 UTSW 4 129,215,751 (GRCm39) missense probably benign
R6593:Rbbp4 UTSW 4 129,216,168 (GRCm39) missense probably damaging 1.00
R6676:Rbbp4 UTSW 4 129,222,414 (GRCm39) missense probably benign
R7741:Rbbp4 UTSW 4 129,228,356 (GRCm39) missense probably damaging 0.99
R8045:Rbbp4 UTSW 4 129,211,693 (GRCm39) missense probably benign 0.00
R9010:Rbbp4 UTSW 4 129,216,180 (GRCm39) missense probably benign
R9352:Rbbp4 UTSW 4 129,211,498 (GRCm39) missense probably benign 0.36
R9629:Rbbp4 UTSW 4 129,212,243 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21