Incidental Mutation 'R6148:Rbbp4'
ID 489000
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 044295-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6148 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 129200893-129229163 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 129215751 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 262 (T262A)
Ref Sequence ENSEMBL: ENSMUSP00000099658 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102598]
AlphaFold Q60972
Predicted Effect probably benign
Transcript: ENSMUST00000102598
AA Change: T262A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236
AA Change: T262A

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
Meta Mutation Damage Score 0.0611 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.6%
Validation Efficiency 95% (61/64)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T A 12: 71,234,200 (GRCm39) C1067S possibly damaging Het
AAdacl4fm3 T C 4: 144,447,887 (GRCm39) T30A possibly damaging Het
Agbl3 T A 6: 34,834,688 (GRCm39) S952R possibly damaging Het
Ano9 A G 7: 140,686,698 (GRCm39) Y429H probably damaging Het
Bbs7 C A 3: 36,667,415 (GRCm39) R7L probably damaging Het
Birc2 T A 9: 7,849,684 (GRCm39) D535V possibly damaging Het
Catsper4 A G 4: 133,945,240 (GRCm39) V206A probably damaging Het
Ccdc73 T G 2: 104,822,482 (GRCm39) S810R possibly damaging Het
Cd177 A T 7: 24,443,698 (GRCm39) L800* probably null Het
Cd34 T C 1: 194,630,316 (GRCm39) probably null Het
Cep78 G A 19: 15,959,150 (GRCm39) R95* probably null Het
Cfap69 T C 5: 5,713,996 (GRCm39) D12G probably benign Het
Cpne7 A G 8: 123,854,171 (GRCm39) D286G probably benign Het
Cwc22 ATCTCTCTCTCTCTCTCT ATCTCTCTCTCTCTCT 2: 77,759,803 (GRCm39) probably null Het
Cxcl5 A T 5: 90,907,565 (GRCm39) I46L probably benign Het
Cyp19a1 C T 9: 54,087,540 (GRCm39) G59D probably damaging Het
Dclre1c A G 2: 3,438,742 (GRCm39) D35G probably damaging Het
Defa41 A G 8: 21,692,428 (GRCm39) N83S probably benign Het
Dvl1 A G 4: 155,939,409 (GRCm39) Y279C probably damaging Het
Fes A G 7: 80,030,044 (GRCm39) L578P probably damaging Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fmn2 T C 1: 174,494,229 (GRCm39) S1248P probably damaging Het
Fmo1 T G 1: 162,679,088 (GRCm39) S53R probably damaging Het
Gabrg1 A T 5: 70,931,804 (GRCm39) M313K probably damaging Het
Galnt10 T C 11: 57,675,474 (GRCm39) C578R probably damaging Het
Gpr39 T C 1: 125,800,323 (GRCm39) V358A probably damaging Het
Gsap A G 5: 21,431,323 (GRCm39) R216G probably damaging Het
Gsap A T 5: 21,475,575 (GRCm39) T570S probably benign Het
Gucy2d A T 7: 98,093,030 (GRCm39) I136L probably benign Het
Hap1 A T 11: 100,240,218 (GRCm39) V294E probably damaging Het
Ipo8 A G 6: 148,701,278 (GRCm39) V514A probably damaging Het
Irf5 T C 6: 29,535,958 (GRCm39) L324P probably damaging Het
Itsn1 C T 16: 91,613,740 (GRCm39) R251C probably damaging Het
Klf11 T C 12: 24,701,567 (GRCm39) probably null Het
Kpna6 G A 4: 129,543,099 (GRCm39) Q439* probably null Het
Mark4 A T 7: 19,163,441 (GRCm39) S563T probably benign Het
Mrpl21 A T 19: 3,333,084 (GRCm39) I5L probably benign Het
Muc4 T C 16: 32,753,802 (GRCm38) I1226T probably benign Het
Myrf G A 19: 10,189,839 (GRCm39) T815I probably damaging Het
Olfr515-ps1 A T 7: 108,444,178 (GRCm39) probably null Het
Or10d4c G T 9: 39,558,555 (GRCm39) D178Y probably damaging Het
Or11g27 A G 14: 50,771,778 (GRCm39) N303S probably benign Het
Or4c15 C T 2: 88,760,597 (GRCm39) V21I probably benign Het
Or52n3 A G 7: 104,530,289 (GRCm39) Y125C possibly damaging Het
Os9 T C 10: 126,935,812 (GRCm39) D280G probably benign Het
Pcdhb14 A G 18: 37,582,283 (GRCm39) N463S probably damaging Het
Pex19 G A 1: 171,961,606 (GRCm39) E271K probably damaging Het
Ppdpf G A 2: 180,829,641 (GRCm39) S32N probably benign Het
Prdm2 A G 4: 142,859,477 (GRCm39) I1271T probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Sult1e1 A T 5: 87,727,770 (GRCm39) S171T probably damaging Het
Tns1 T C 1: 73,992,612 (GRCm39) T689A probably damaging Het
Unc13c G C 9: 73,600,648 (GRCm39) N1365K probably benign Het
Vmn2r52 T C 7: 9,905,090 (GRCm39) I250V probably benign Het
Vmn2r55 C A 7: 12,402,069 (GRCm39) L406F probably benign Het
Wdcp T C 12: 4,900,621 (GRCm39) V159A possibly damaging Het
Zbtb3 C T 19: 8,781,560 (GRCm39) A391V probably benign Het
Znhit1 A T 5: 137,011,487 (GRCm39) S109T 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
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'- CATGCTCAAGACATATATGTAAGTGAA -3'
(R):5'- TCCACGAGTCTCTATTTGGC -3'

Sequencing Primer
(F):5'- CTGTGATAACTCCAGCTGTGTCAAG -3'
(R):5'- CTCAGTTGCTGATGACCAGAAGC -3'
Posted On 2017-10-10