Incidental Mutation 'R4695:Rbbp8'
ID 355664
Institutional Source Beutler Lab
Gene Symbol Rbbp8
Ensembl Gene ENSMUSG00000041238
Gene Name retinoblastoma binding protein 8, endonuclease
Synonyms CtIP, 9930104E21Rik
MMRRC Submission 042016-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4695 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 11766333-11876264 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 11854839 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 355 (K355*)
Ref Sequence ENSEMBL: ENSMUSP00000111527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047322] [ENSMUST00000115861]
AlphaFold Q80YR6
Predicted Effect probably null
Transcript: ENSMUST00000047322
AA Change: K355*
SMART Domains Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: K355*

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 null
Transcript: ENSMUST00000115861
AA Change: K355*
SMART Domains Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: K355*

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 T A 17: 33,750,713 (GRCm39) M251K possibly damaging Het
Adcy2 A T 13: 68,875,962 (GRCm39) H513Q possibly damaging Het
Afg2a T G 3: 37,512,474 (GRCm39) F713C probably damaging Het
Ahctf1 A G 1: 179,580,619 (GRCm39) L1861P possibly damaging Het
Apc2 C A 10: 80,146,877 (GRCm39) R615S probably damaging Het
Arhgap45 A C 10: 79,861,364 (GRCm39) D509A probably damaging Het
Atp6v1c2 T C 12: 17,351,208 (GRCm39) T108A probably benign Het
Blm T A 7: 80,143,976 (GRCm39) D821V probably damaging Het
C3 T A 17: 57,528,057 (GRCm39) I721L probably benign Het
Ccdc13 A T 9: 121,649,826 (GRCm39) V207E probably damaging Het
Ccndbp1 C T 2: 120,845,208 (GRCm39) probably benign Het
Cd180 A C 13: 102,842,268 (GRCm39) Q438P probably benign Het
Cd248 C T 19: 5,118,473 (GRCm39) T107M probably damaging Het
Cdan1 G A 2: 120,558,864 (GRCm39) R445C probably damaging Het
Cic C A 7: 24,973,013 (GRCm39) H915N possibly damaging Het
Cox8c T C 12: 102,865,742 (GRCm39) S40P possibly damaging Het
Cyp2d34 A T 15: 82,501,092 (GRCm39) C347S probably benign Het
Dhx30 A T 9: 109,914,356 (GRCm39) F974I probably damaging Het
Dlec1 A T 9: 118,972,221 (GRCm39) T1414S probably benign Het
Dlg2 C A 7: 92,087,170 (GRCm39) probably null Het
Dynlt5 T A 4: 102,861,426 (GRCm39) I136K probably damaging Het
Dzip1l T A 9: 99,529,258 (GRCm39) M329K probably benign Het
Dzip3 A T 16: 48,771,924 (GRCm39) L582I probably damaging Het
Emilin2 T C 17: 71,559,773 (GRCm39) Y1068C probably damaging Het
Fam221b T A 4: 43,659,622 (GRCm39) probably null Het
Fbxw22 A G 9: 109,207,939 (GRCm39) I444T probably damaging Het
Flnc T A 6: 29,440,428 (GRCm39) N245K probably damaging Het
Fnip1 T A 11: 54,390,245 (GRCm39) I380N probably damaging Het
Gbf1 C T 19: 46,247,606 (GRCm39) R181* probably null Het
Igkv6-17 T A 6: 70,348,486 (GRCm39) F12I probably benign Het
Itln1 C A 1: 171,358,645 (GRCm39) G174V probably damaging Het
Lrrc52 A G 1: 167,293,660 (GRCm39) probably null Het
LTO1 T C 7: 144,482,715 (GRCm39) probably null Het
Matn2 A G 15: 34,403,071 (GRCm39) Y432C probably damaging Het
Metap1d A G 2: 71,355,305 (GRCm39) *336W probably null Het
Mgam2-ps T A 6: 40,779,489 (GRCm39) noncoding transcript Het
Mrps9 T A 1: 42,901,675 (GRCm39) V61D possibly damaging Het
Myh7b T C 2: 155,456,097 (GRCm39) Y161H probably damaging Het
Myh9 T A 15: 77,653,053 (GRCm39) D1428V probably damaging Het
N4bp3 A T 11: 51,535,306 (GRCm39) probably null Het
Nat9 T A 11: 115,075,416 (GRCm39) Q75L probably benign Het
Nop2 T C 6: 125,121,519 (GRCm39) V767A probably benign Het
Ntrk2 A G 13: 59,274,307 (GRCm39) K728E probably damaging Het
Or51e1 T G 7: 102,358,764 (GRCm39) C99W probably damaging Het
Or5p72 G A 7: 108,022,196 (GRCm39) M139I probably benign Het
Or7g21 T A 9: 19,032,306 (GRCm39) H15Q probably null Het
Pcdhgb2 A G 18: 37,825,375 (GRCm39) T789A probably benign Het
Pcyt2 T C 11: 120,502,000 (GRCm39) D321G probably benign Het
Rad9a G A 19: 4,250,560 (GRCm39) R85C probably damaging Het
Rhag T C 17: 41,147,358 (GRCm39) Y407H probably damaging Het
Robo4 G A 9: 37,314,495 (GRCm39) V161M probably damaging Het
Rpl27-ps3 C A 18: 6,332,922 (GRCm39) N97K probably benign Het
Slc45a4 A G 15: 73,453,924 (GRCm39) I691T possibly damaging Het
Slc9a9 A T 9: 94,818,502 (GRCm39) probably benign Het
Stard13 A G 5: 150,984,280 (GRCm39) F619L probably benign Het
Stt3b A T 9: 115,083,862 (GRCm39) V438E probably damaging Het
Tacr3 C T 3: 134,535,182 (GRCm39) T50I probably benign Het
Tacr3 G T 3: 134,635,690 (GRCm39) C298F probably damaging Het
Taok3 C T 5: 117,366,131 (GRCm39) T394M probably benign Het
Tgfb1i1 A G 7: 127,848,348 (GRCm39) D128G probably damaging Het
Tgfbr3l G T 8: 4,300,574 (GRCm39) V251L probably benign Het
Tom1l2 C G 11: 60,161,259 (GRCm39) R84P probably damaging Het
Top3a A G 11: 60,633,238 (GRCm39) S953P probably benign Het
Trappc10 T C 10: 78,033,697 (GRCm39) K957E probably damaging Het
Ttn T A 2: 76,565,668 (GRCm39) E28228V probably damaging Het
Ttn T A 2: 76,585,168 (GRCm39) I22042F probably damaging Het
Vdr A T 15: 97,756,801 (GRCm39) probably null Het
Zfp42 A T 8: 43,749,168 (GRCm39) L111Q 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
R4769:Rbbp8 UTSW 18 11,855,727 (GRCm39) missense probably damaging 1.00
R5161:Rbbp8 UTSW 18 11,855,171 (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'- GGATAATGCCTTACTATTCTGTAGC -3'
(R):5'- TCAGCACTGCACTGTTCATC -3'

Sequencing Primer
(F):5'- GCCTTACTATTCTGTAGCAAGAAATG -3'
(R):5'- GCACTGCACTGTTCATCTACAGAG -3'
Posted On 2015-10-21