Incidental Mutation 'R5161:Rbbp8'
ID 397026
Institutional Source Beutler Lab
Gene Symbol Rbbp8
Ensembl Gene ENSMUSG00000041238
Gene Name retinoblastoma binding protein 8, endonuclease
Synonyms CtIP, 9930104E21Rik
MMRRC Submission 042743-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5161 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 11766333-11876264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 11855171 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 465 (D465E)
Ref Sequence ENSEMBL: ENSMUSP00000111527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047322] [ENSMUST00000115861]
AlphaFold Q80YR6
Predicted Effect probably damaging
Transcript: ENSMUST00000047322
AA Change: D465E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: D465E

DomainStartEndE-ValueType
Pfam:CtIP_N 20 139 9.6e-61 PFAM
PDB:2L4Z|A 639 675 3e-15 PDB
Pfam:SAE2 790 854 8.7e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115861
AA Change: D465E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: D465E

DomainStartEndE-ValueType
Pfam:CtIP_N 20 139 5.2e-55 PFAM
PDB:2L4Z|A 639 675 3e-15 PDB
Pfam:SAE2 817 854 1.4e-8 PFAM
Meta Mutation Damage Score 0.0642 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (56/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co-repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. It is suggested that this gene may itself be a tumor suppressor acting in the same pathway as BRCA1. Three transcript variants encoding two different isoforms have been found for this gene. More transcript variants exist, but their full-length natures have not been determined. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele die at E4.0 as blastocysts fail to enter S phase and arrest at G1, leading to elevated cell death. Heterozygous mutant mice display a shortened lifespan due to formation of multiple tumors, mostly large lymphomasof both B and T cells. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,055,344 (GRCm39) E27* probably null Het
4930407I10Rik G T 15: 81,947,542 (GRCm39) E480* probably null Het
Acad11 T C 9: 104,001,227 (GRCm39) I591T probably benign Het
Acsbg3 A T 17: 57,189,888 (GRCm39) I305F possibly damaging Het
Adamts13 G A 2: 26,883,020 (GRCm39) E857K probably benign Het
Atf2 A C 2: 73,660,134 (GRCm39) probably null Het
Cass4 C A 2: 172,274,244 (GRCm39) A675E probably damaging Het
Coa8 C A 12: 111,689,208 (GRCm39) Q97K possibly damaging Het
Ctsd A T 7: 141,930,881 (GRCm39) L283Q probably damaging Het
Ddrgk1 A T 2: 130,505,296 (GRCm39) M1K probably null Het
Dipk1b C T 2: 26,526,260 (GRCm39) T398M possibly damaging Het
Dock1 G A 7: 134,335,791 (GRCm39) A62T possibly damaging Het
Ehmt1 T C 2: 24,748,207 (GRCm39) D407G possibly damaging Het
Eif1ad17 T A 12: 87,978,887 (GRCm39) D90E possibly damaging Het
Eml6 A G 11: 29,974,467 (GRCm39) V37A probably damaging Het
Fam20a C T 11: 109,564,196 (GRCm39) R519Q probably benign Het
Fat1 A G 8: 45,405,549 (GRCm39) T767A probably benign Het
Fbxl8 A T 8: 105,995,538 (GRCm39) H350L possibly damaging Het
Gm10226 A C 17: 21,910,834 (GRCm39) Q23P possibly damaging Het
Gm38706 A T 6: 130,459,868 (GRCm39) noncoding transcript Het
Gpatch2l G T 12: 86,313,950 (GRCm39) R362L probably benign Het
Hyal5 A T 6: 24,891,602 (GRCm39) D472V probably benign Het
Ighv5-9-1 T C 12: 113,699,777 (GRCm39) S102G possibly damaging Het
Itpripl1 A C 2: 126,983,777 (GRCm39) L115R probably damaging Het
Itsn1 G A 16: 91,705,726 (GRCm39) C169Y possibly damaging Het
Krt88 T A 15: 101,348,349 (GRCm39) C12S probably benign Het
Macroh2a1 T C 13: 56,237,594 (GRCm39) D222G probably benign Het
Muc4 G A 16: 32,582,895 (GRCm39) V2557M probably damaging Het
Myh7b G C 2: 155,474,293 (GRCm39) R1669S possibly damaging Het
Nbeal2 G T 9: 110,458,936 (GRCm39) Q1996K probably benign Het
Obscn T C 11: 58,919,430 (GRCm39) E6205G probably damaging Het
Obscn A G 11: 58,955,136 (GRCm39) Y3926H possibly damaging Het
Or14a259 T C 7: 86,013,546 (GRCm39) probably null Het
Or5an10 A T 19: 12,276,153 (GRCm39) S114R probably damaging Het
P2ry2 A T 7: 100,648,136 (GRCm39) Y56* probably null Het
Pate10 T A 9: 35,652,884 (GRCm39) L42* probably null Het
Pde1a T C 2: 79,708,488 (GRCm39) N242S probably null Het
Pik3cg C T 12: 32,254,977 (GRCm39) E337K possibly damaging Het
Plxna2 A G 1: 194,433,712 (GRCm39) N587S probably benign Het
Pmpca T C 2: 26,285,183 (GRCm39) probably null Het
Ptpn4 C T 1: 119,635,593 (GRCm39) W370* probably null Het
Qki A T 17: 10,434,419 (GRCm39) probably null Het
Rapgef3 A G 15: 97,655,606 (GRCm39) V427A probably damaging Het
Scn2a A G 2: 65,594,935 (GRCm39) K1928R probably benign Het
Slc5a5 A C 8: 71,341,492 (GRCm39) C346G probably damaging Het
Spata2l A G 8: 123,962,288 (GRCm39) L91P probably damaging Het
Syt3 C A 7: 44,045,439 (GRCm39) H560N possibly damaging Het
Timm23 G A 14: 31,915,882 (GRCm39) P63L probably damaging Het
Tmem191 T C 16: 17,094,743 (GRCm39) S108P possibly damaging Het
Ttc21b A G 2: 66,059,367 (GRCm39) C545R probably damaging Het
Ttc23l G T 15: 10,551,636 (GRCm39) T30K possibly damaging Het
Usp17ld A T 7: 102,899,579 (GRCm39) L451* probably null Het
Vmn1r15 T C 6: 57,235,497 (GRCm39) Y122H probably benign Het
Vxn G T 1: 9,692,902 (GRCm39) G145* probably null Het
Zfp1002 A T 2: 150,097,135 (GRCm39) I98K probably damaging Het
Other mutations in Rbbp8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00825:Rbbp8 APN 18 11,855,664 (GRCm39) missense probably benign
IGL01302:Rbbp8 APN 18 11,855,036 (GRCm39) missense probably benign
IGL01965:Rbbp8 APN 18 11,855,317 (GRCm39) missense probably benign 0.04
IGL02076:Rbbp8 APN 18 11,838,876 (GRCm39) missense probably damaging 1.00
IGL02410:Rbbp8 APN 18 11,865,269 (GRCm39) missense probably damaging 1.00
IGL02823:Rbbp8 APN 18 11,865,270 (GRCm39) missense possibly damaging 0.89
IGL02859:Rbbp8 APN 18 11,871,671 (GRCm39) missense probably benign 0.42
IGL02966:Rbbp8 APN 18 11,838,869 (GRCm39) missense possibly damaging 0.88
IGL03022:Rbbp8 APN 18 11,858,559 (GRCm39) splice site probably benign
IGL03274:Rbbp8 APN 18 11,874,133 (GRCm39) splice site probably benign
IGL03367:Rbbp8 APN 18 11,854,776 (GRCm39) missense probably benign 0.08
R0063:Rbbp8 UTSW 18 11,867,614 (GRCm39) splice site probably benign
R0063:Rbbp8 UTSW 18 11,867,614 (GRCm39) splice site probably benign
R0167:Rbbp8 UTSW 18 11,793,979 (GRCm39) nonsense probably null
R0314:Rbbp8 UTSW 18 11,848,875 (GRCm39) missense probably benign 0.17
R0864:Rbbp8 UTSW 18 11,865,241 (GRCm39) splice site probably benign
R1033:Rbbp8 UTSW 18 11,875,762 (GRCm39) missense probably benign 0.41
R1678:Rbbp8 UTSW 18 11,865,372 (GRCm39) missense probably benign 0.05
R1964:Rbbp8 UTSW 18 11,875,736 (GRCm39) missense possibly damaging 0.62
R2002:Rbbp8 UTSW 18 11,860,223 (GRCm39) splice site probably benign
R2015:Rbbp8 UTSW 18 11,853,681 (GRCm39) missense probably benign 0.01
R2240:Rbbp8 UTSW 18 11,810,726 (GRCm39) missense probably damaging 0.99
R2308:Rbbp8 UTSW 18 11,829,833 (GRCm39) missense possibly damaging 0.95
R3946:Rbbp8 UTSW 18 11,851,925 (GRCm39) missense probably benign
R4375:Rbbp8 UTSW 18 11,858,467 (GRCm39) missense probably benign 0.00
R4590:Rbbp8 UTSW 18 11,865,322 (GRCm39) nonsense probably null
R4695:Rbbp8 UTSW 18 11,854,839 (GRCm39) nonsense probably null
R4769:Rbbp8 UTSW 18 11,855,727 (GRCm39) missense probably damaging 1.00
R5195:Rbbp8 UTSW 18 11,855,208 (GRCm39) missense probably benign 0.00
R5223:Rbbp8 UTSW 18 11,854,747 (GRCm39) missense probably benign 0.19
R5573:Rbbp8 UTSW 18 11,855,664 (GRCm39) missense probably benign
R5671:Rbbp8 UTSW 18 11,875,699 (GRCm39) missense probably benign 0.00
R6051:Rbbp8 UTSW 18 11,871,664 (GRCm39) missense probably benign 0.17
R6995:Rbbp8 UTSW 18 11,851,965 (GRCm39) missense probably damaging 1.00
R7048:Rbbp8 UTSW 18 11,865,277 (GRCm39) missense possibly damaging 0.92
R7261:Rbbp8 UTSW 18 11,838,799 (GRCm39) missense probably damaging 0.99
R7305:Rbbp8 UTSW 18 11,805,638 (GRCm39) critical splice acceptor site probably null
R7319:Rbbp8 UTSW 18 11,865,269 (GRCm39) missense probably damaging 1.00
R7447:Rbbp8 UTSW 18 11,793,934 (GRCm39) missense probably benign 0.00
R7949:Rbbp8 UTSW 18 11,851,892 (GRCm39) missense probably benign 0.00
R8010:Rbbp8 UTSW 18 11,855,290 (GRCm39) missense possibly damaging 0.67
R8116:Rbbp8 UTSW 18 11,855,727 (GRCm39) missense probably damaging 1.00
R8292:Rbbp8 UTSW 18 11,838,769 (GRCm39) missense probably benign
R8300:Rbbp8 UTSW 18 11,838,833 (GRCm39) synonymous silent
R8314:Rbbp8 UTSW 18 11,853,682 (GRCm39) missense probably benign 0.06
R8510:Rbbp8 UTSW 18 11,829,859 (GRCm39) nonsense probably null
R8961:Rbbp8 UTSW 18 11,865,262 (GRCm39) missense probably benign 0.18
R9056:Rbbp8 UTSW 18 11,810,677 (GRCm39) missense possibly damaging 0.65
R9086:Rbbp8 UTSW 18 11,875,736 (GRCm39) missense possibly damaging 0.62
R9375:Rbbp8 UTSW 18 11,838,888 (GRCm39) missense probably benign
R9391:Rbbp8 UTSW 18 11,854,990 (GRCm39) missense possibly damaging 0.49
R9763:Rbbp8 UTSW 18 11,865,261 (GRCm39) missense probably benign 0.01
Z1176:Rbbp8 UTSW 18 11,865,319 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GGTCAGAAGTGAAGGTCATTAGCC -3'
(R):5'- AGCCTCGTAAATAGTGGCTTG -3'

Sequencing Primer
(F):5'- GTGAAGGTCATTAGCCAGTCATTTTC -3'
(R):5'- CCTCGTAAATAGTGGCTTGCTTAAG -3'
Posted On 2016-06-21