Incidental Mutation 'IGL00494:Rbbp4'
ID 88889
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 # IGL00494
Quality Score
Status
Chromosome 4
Chromosomal Location 129200893-129229163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129203946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 406 (E406G)
Ref Sequence ENSEMBL: ENSMUSP00000099658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102598] [ENSMUST00000102599]
AlphaFold Q60972
Predicted Effect probably benign
Transcript: ENSMUST00000102598
AA Change: E406G

PolyPhen 2 Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236
AA Change: E406G

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 probably benign
Transcript: ENSMUST00000102599
SMART Domains Protein: ENSMUSP00000099659
Gene: ENSMUSG00000001333

DomainStartEndE-ValueType
low complexity region 65 75 N/A INTRINSIC
Filament 156 453 1.2e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146448
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,621,108 (GRCm39) T271A possibly damaging Het
Amer3 A G 1: 34,627,608 (GRCm39) T616A probably benign Het
Cacna1d A T 14: 29,818,907 (GRCm39) M1216K probably damaging Het
Clec16a A T 16: 10,413,760 (GRCm39) K389M probably damaging Het
Grin2b T G 6: 135,713,329 (GRCm39) M851L possibly damaging Het
Hapln1 T C 13: 89,753,590 (GRCm39) V252A probably benign Het
Hspa13 A G 16: 75,554,880 (GRCm39) V402A possibly damaging Het
Lrfn1 T C 7: 28,159,442 (GRCm39) Y454H probably damaging Het
Map3k21 G A 8: 126,671,412 (GRCm39) S900N possibly damaging Het
Mdm1 C A 10: 118,000,346 (GRCm39) H615N probably damaging Het
Meak7 T C 8: 120,499,334 (GRCm39) K53E probably benign Het
Nabp1 A T 1: 51,516,687 (GRCm39) D60E probably damaging Het
Nmur1 T C 1: 86,314,084 (GRCm39) E361G probably benign Het
Pms1 A G 1: 53,245,715 (GRCm39) probably benign Het
Ralgapa1 T G 12: 55,793,970 (GRCm39) D555A probably damaging Het
Rp1l1 T A 14: 64,266,174 (GRCm39) C587S probably benign Het
Sez6l A T 5: 112,610,869 (GRCm39) N516K probably damaging Het
Taar7e T C 10: 23,914,038 (GRCm39) I176T probably benign Het
Tex14 G T 11: 87,446,310 (GRCm39) R1439S probably damaging Het
Tle3 T A 9: 61,316,039 (GRCm39) probably benign Het
Xntrpc T A 7: 101,736,754 (GRCm39) L327Q probably damaging Het
Other mutations in Rbbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Rbbp4 APN 4 129,216,668 (GRCm39) splice site probably benign
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 2013-12-03