Incidental Mutation 'IGL02823:Rbbp8'
ID 361089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbbp8
Ensembl Gene ENSMUSG00000041238
Gene Name retinoblastoma binding protein 8, endonuclease
Synonyms CtIP, 9930104E21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02823
Quality Score
Status
Chromosome 18
Chromosomal Location 11766333-11876264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11865270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 720 (S720G)
Ref Sequence ENSEMBL: ENSMUSP00000111527 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047322] [ENSMUST00000115861]
AlphaFold Q80YR6
Predicted Effect possibly damaging
Transcript: ENSMUST00000047322
AA Change: S720G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: S720G

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 possibly damaging
Transcript: ENSMUST00000115861
AA Change: S720G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: S720G

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,410,074 (GRCm39) S194P probably damaging Het
Abca7 T A 10: 79,844,656 (GRCm39) D1488E probably damaging Het
Abhd18 A G 3: 40,887,953 (GRCm39) probably benign Het
Atp6ap1l A G 13: 91,047,644 (GRCm39) V56A probably benign Het
Atrip A G 9: 108,890,246 (GRCm39) Y631H probably damaging Het
C9orf72 A T 4: 35,213,031 (GRCm39) C215S probably damaging Het
Dst A T 1: 34,231,164 (GRCm39) H3097L possibly damaging Het
Ear1 G T 14: 44,056,502 (GRCm39) S122* probably null Het
Eif2a G T 3: 58,456,092 (GRCm39) A364S probably benign Het
Eps8l2 A T 7: 140,921,988 (GRCm39) D22V probably damaging Het
Fndc7 A G 3: 108,776,487 (GRCm39) F432S probably damaging Het
Gemin5 T C 11: 58,058,531 (GRCm39) probably benign Het
Grxcr2 T C 18: 42,125,046 (GRCm39) K121E probably damaging Het
Gucy1a2 T C 9: 3,894,656 (GRCm39) I713T possibly damaging Het
Hs3st1 A G 5: 39,772,100 (GRCm39) L181P probably damaging Het
Ksr1 C A 11: 78,912,229 (GRCm39) V627L probably benign Het
Lama2 T C 10: 26,877,141 (GRCm39) N2682D probably damaging Het
Lratd2 T C 15: 60,694,972 (GRCm39) D258G probably damaging Het
Map3k19 G T 1: 127,750,001 (GRCm39) H1117N probably benign Het
Mdc1 C T 17: 36,163,815 (GRCm39) A1121V probably damaging Het
Nlrp1a C T 11: 70,983,249 (GRCm39) S1239N probably damaging Het
Or2w3 T C 11: 58,556,793 (GRCm39) M136T possibly damaging Het
Prkra G T 2: 76,460,768 (GRCm39) A310E probably damaging Het
Prl2c1 T C 13: 28,040,416 (GRCm39) probably benign Het
Prl7a2 T C 13: 27,846,734 (GRCm39) Y93C possibly damaging Het
Prob1 A T 18: 35,785,800 (GRCm39) V818E possibly damaging Het
Rexo4 T C 2: 26,852,489 (GRCm39) T149A probably benign Het
Slc39a2 T A 14: 52,132,869 (GRCm39) Y271N probably damaging Het
Sprr2d T A 3: 92,247,734 (GRCm39) C58* probably null Het
Srebf2 G A 15: 82,083,975 (GRCm39) G965D possibly damaging Het
Tcof1 T C 18: 60,949,120 (GRCm39) E1265G probably benign Het
Terf2 T C 8: 107,799,257 (GRCm39) N389S possibly damaging Het
Vsig10l T C 7: 43,115,888 (GRCm39) S410P probably damaging Het
Vwa3b A T 1: 37,225,985 (GRCm39) probably benign 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
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
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
Posted On 2015-12-18