Incidental Mutation 'R6676:Rbbp4'
ID 527283
Institutional Source Beutler Lab
Gene Symbol Rbbp4
Ensembl Gene ENSMUSG00000057236
Gene Name retinoblastoma binding protein 4, chromatin remodeling factor
Synonyms CAF-1 p48 subunit, RBAP48
MMRRC Submission 044795-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6676 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 129200893-129229163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129222414 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 93 (F93L)
Ref Sequence ENSEMBL: ENSMUSP00000099658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102598] [ENSMUST00000135585]
AlphaFold Q60972
Predicted Effect probably benign
Transcript: ENSMUST00000102598
AA Change: F93L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236
AA Change: F93L

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: ENSMUST00000135585
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147183
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.3%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra2 A T 8: 27,601,268 (GRCm39) I303F possibly damaging Het
Cldn9 A G 17: 23,902,023 (GRCm39) S201P probably benign Het
Clstn2 G T 9: 97,343,584 (GRCm39) P621Q probably damaging Het
Ctdspl2 A G 2: 121,837,445 (GRCm39) N403S probably damaging Het
Cyp2j5 T C 4: 96,524,045 (GRCm39) Y329C possibly damaging Het
Elapor1 A G 3: 108,377,231 (GRCm39) L461P probably damaging Het
Elovl1 A G 4: 118,287,700 (GRCm39) probably benign Het
Fam83a A G 15: 57,856,439 (GRCm39) D206G possibly damaging Het
Fancd2 C T 6: 113,514,626 (GRCm39) Q144* probably null Het
Fhl2 T C 1: 43,170,970 (GRCm39) M115V possibly damaging Het
Fry T A 5: 150,304,387 (GRCm39) D592E probably benign Het
Lrp1 G A 10: 127,396,005 (GRCm39) H2422Y probably damaging Het
Mamdc2 T A 19: 23,280,997 (GRCm39) I684F probably damaging Het
Mia2 T C 12: 59,155,156 (GRCm39) Y290H probably damaging Het
Mup12 C T 4: 60,696,642 (GRCm39) probably null Het
Olr1 T A 6: 129,477,040 (GRCm39) probably null Het
Or51a24 T C 7: 103,733,661 (GRCm39) T209A probably benign Het
Pcdhb15 T C 18: 37,607,860 (GRCm39) V364A possibly damaging Het
Pfkp A G 13: 6,636,575 (GRCm39) S654P possibly damaging Het
Rab3gap2 T G 1: 185,015,607 (GRCm39) V1275G probably damaging Het
Ripk1 T C 13: 34,194,587 (GRCm39) V75A probably damaging Het
Scg2 T A 1: 79,413,499 (GRCm39) Q368L possibly damaging Het
Tmprss9 A G 10: 80,734,145 (GRCm39) probably benign Het
Other mutations in Rbbp4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00494:Rbbp4 APN 4 129,203,946 (GRCm39) missense probably benign 0.06
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
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
Predicted Primers PCR Primer
(F):5'- TAGTCTGCATCTCATGTACCTGG -3'
(R):5'- ATTGCTGACTGATATCCTGGG -3'

Sequencing Primer
(F):5'- CACTTCCAGGGGATCTGATATC -3'
(R):5'- GCTGACTGATATCCTGGGTTACC -3'
Posted On 2018-07-23