Incidental Mutation 'R1056:Rbbp4'
ID 94348
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 039146-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1056 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 129200893-129229163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 129211442 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 404 (M404K)
Ref Sequence ENSEMBL: ENSMUSP00000099658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102598]
AlphaFold Q60972
Predicted Effect probably damaging
Transcript: ENSMUST00000102598
AA Change: M404K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236
AA Change: M404K

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
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.7%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,924,295 (GRCm39) Y1649C probably damaging Het
Abcc10 A C 17: 46,614,880 (GRCm39) C1459W possibly damaging Het
Amfr A T 8: 94,712,097 (GRCm39) F278I probably benign Het
Anks1b G T 10: 90,757,291 (GRCm39) probably null Het
Bak1 A G 17: 27,240,247 (GRCm39) S147P possibly damaging Het
Bltp1 C A 3: 37,037,602 (GRCm39) H2469N possibly damaging Het
Bltp1 T A 3: 37,098,829 (GRCm39) M1152K probably benign Het
C7 T C 15: 5,075,260 (GRCm39) N144S possibly damaging Het
Casd1 T C 6: 4,641,967 (GRCm39) V748A probably benign Het
Ccdc168 C T 1: 44,100,087 (GRCm39) G337D probably damaging Het
Ccdc180 T C 4: 45,916,375 (GRCm39) S859P probably benign Het
Ccne2 T C 4: 11,192,707 (GRCm39) S2P probably damaging Het
Cdc42bpg T A 19: 6,364,051 (GRCm39) I541N probably benign Het
Cgnl1 T A 9: 71,633,177 (GRCm39) N58I probably damaging Het
Chd7 T C 4: 8,822,402 (GRCm39) S832P possibly damaging Het
Chl1 A T 6: 103,652,038 (GRCm39) Y318F possibly damaging Het
Coq2 G T 5: 100,805,813 (GRCm39) N274K probably benign Het
Crhr2 A T 6: 55,077,720 (GRCm39) V214E probably damaging Het
Dgkg G C 16: 22,419,291 (GRCm39) P70A probably damaging Het
Dync2h1 T C 9: 7,147,731 (GRCm39) I966M probably benign Het
Eif5b C G 1: 38,061,248 (GRCm39) R380G unknown Het
Fat4 T A 3: 38,945,541 (GRCm39) I1478N probably damaging Het
Impact A T 18: 13,109,581 (GRCm39) I92L probably benign Het
Ly6c2 A G 15: 74,983,445 (GRCm39) probably null Het
Lypd6b G A 2: 49,837,468 (GRCm39) V147I possibly damaging Het
Mdga2 T C 12: 66,769,894 (GRCm39) D192G probably damaging Het
Mms22l T C 4: 24,586,344 (GRCm39) probably null Het
Myo9a C T 9: 59,739,484 (GRCm39) T732I possibly damaging Het
Myrf C T 19: 10,200,850 (GRCm39) M274I probably benign Het
Nfx1 G A 4: 41,003,057 (GRCm39) R686Q probably damaging Het
Ofcc1 C T 13: 40,362,305 (GRCm39) G206R probably benign Het
Oog4 T C 4: 143,164,581 (GRCm39) T245A possibly damaging Het
Or1a1b C T 11: 74,097,608 (GRCm39) V145I probably benign Het
Or52e3 A T 7: 102,869,625 (GRCm39) E233D probably benign Het
Pclo A T 5: 14,590,069 (GRCm39) K790* probably null Het
Pcm1 A G 8: 41,774,937 (GRCm39) E1668G probably damaging Het
Pkhd1l1 T A 15: 44,455,360 (GRCm39) N4040K probably damaging Het
Podnl1 T A 8: 84,855,905 (GRCm39) S222T probably benign Het
Ppil4 A G 10: 7,675,396 (GRCm39) T182A possibly damaging Het
Prdm13 T C 4: 21,678,544 (GRCm39) K649E probably damaging Het
Prob1 A T 18: 35,786,663 (GRCm39) H530Q probably benign Het
Rilpl1 A T 5: 124,631,900 (GRCm39) F149I probably damaging Het
Sema6c T A 3: 95,078,527 (GRCm39) S543T probably benign Het
Sh3rf3 G T 10: 58,842,904 (GRCm39) W290L probably damaging Het
Slc2a12 T G 10: 22,541,350 (GRCm39) S402A probably benign Het
Tas2r131 T A 6: 132,934,030 (GRCm39) I260F possibly damaging Het
Tasp1 A G 2: 139,850,684 (GRCm39) I113T possibly damaging Het
Tnrc18 G A 5: 142,759,614 (GRCm39) R741* probably null Het
Ube2o G T 11: 116,437,290 (GRCm39) D244E probably damaging Het
Vmn1r206 A T 13: 22,804,784 (GRCm39) M141K probably benign Het
Zbtb14 C A 17: 69,695,497 (GRCm39) F398L probably damaging Het
Zfp747 A G 7: 126,973,760 (GRCm39) S137P probably benign Het
Zfp951 A T 5: 104,963,151 (GRCm39) H138Q possibly damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACTAACCAGTGGCACAATCAGATAAAGG -3'
(R):5'- TGCAGAGGATGGCCCACCAG -3'

Sequencing Primer
(F):5'- cgggaagcagaggcagg -3'
(R):5'- ATGGCCCACCAGAATTGTTG -3'
Posted On 2014-01-05