Incidental Mutation 'R7319:Rbbp8'
ID 568096
Institutional Source Beutler Lab
Gene Symbol Rbbp8
Ensembl Gene ENSMUSG00000041238
Gene Name retinoblastoma binding protein 8, endonuclease
Synonyms CtIP, 9930104E21Rik
MMRRC Submission 045415-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7319 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 11766333-11876264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 11865269 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 719 (D719E)
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: D719E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: D719E

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: D719E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: D719E

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (79/82)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930012K11Rik A T 14: 70,393,635 (GRCm39) I287N probably benign Het
Aco2 G T 15: 81,787,820 (GRCm39) E223D probably damaging Het
Acsf3 T A 8: 123,539,770 (GRCm39) I466N probably damaging Het
Albfm1 G A 5: 90,719,625 (GRCm39) probably null Het
Aox3 T A 1: 58,191,761 (GRCm39) F438I probably benign Het
Arhgap33 T C 7: 30,225,794 (GRCm39) T591A probably benign Het
Ash1l C T 3: 88,888,694 (GRCm39) A191V probably benign Het
Btg2 T C 1: 134,006,779 (GRCm39) K5E probably benign Het
C1galt1 T A 6: 7,871,150 (GRCm39) Y329N probably damaging Het
Cacna1h A G 17: 25,608,435 (GRCm39) I824T possibly damaging Het
Carmil3 A G 14: 55,731,817 (GRCm39) I182V probably benign Het
Ccdc150 T A 1: 54,302,496 (GRCm39) probably null Het
Chek1 T A 9: 36,633,939 (GRCm39) R129W probably damaging Het
Chrna6 A G 8: 27,896,815 (GRCm39) M354T possibly damaging Het
Cpq A G 15: 33,250,185 (GRCm39) T181A probably benign Het
Csmd2 A T 4: 128,287,472 (GRCm39) Y1069F Het
Defb28 T A 2: 152,361,974 (GRCm39) C45S possibly damaging Het
Dnah1 A G 14: 31,018,551 (GRCm39) Y1360H probably benign Het
Dnah7c T C 1: 46,823,608 (GRCm39) V3749A possibly damaging Het
Dnah7c T A 1: 46,819,935 (GRCm39) D3728E probably benign Het
Dym G A 18: 75,196,245 (GRCm39) probably null Het
Dync2i2 G A 2: 29,928,341 (GRCm39) P95L probably benign Het
Dzip3 A G 16: 48,747,903 (GRCm39) probably null Het
Eef1akmt4 A G 16: 20,436,666 (GRCm39) K163E probably benign Het
Fbrs A G 7: 127,081,985 (GRCm39) T242A possibly damaging Het
Fgfr3 G A 5: 33,885,146 (GRCm39) V87M possibly damaging Het
Fst A T 13: 114,595,068 (GRCm39) C19S probably benign Het
Gm7276 G A 18: 77,273,216 (GRCm39) R173W unknown Het
Gm9195 G A 14: 72,697,929 (GRCm39) H1284Y probably benign Het
Herc6 C A 6: 57,581,074 (GRCm39) T258K probably damaging Het
Hip1r A G 5: 124,137,174 (GRCm39) Y678C probably damaging Het
Ifne A T 4: 88,798,243 (GRCm39) N58K probably damaging Het
Ighv1-26 A T 12: 114,752,163 (GRCm39) H60Q possibly damaging Het
Ints1 A G 5: 139,746,520 (GRCm39) F1276L probably damaging Het
Itprid2 A T 2: 79,466,416 (GRCm39) D82V probably damaging Het
Kcnc4 T A 3: 107,366,100 (GRCm39) E36V probably benign Het
Kcnq2 C T 2: 180,750,895 (GRCm39) G315S probably damaging Het
Kdm4c G A 4: 74,255,200 (GRCm39) V585M probably damaging Het
Klhl26 C T 8: 70,905,592 (GRCm39) R106H probably damaging Het
Kmo T C 1: 175,481,221 (GRCm39) F313S probably damaging Het
Lmtk3 T A 7: 45,443,740 (GRCm39) S808T unknown Het
Lrch3 A G 16: 32,815,363 (GRCm39) T585A probably benign Het
Lrch4 T A 5: 137,637,977 (GRCm39) H86Q Het
Map3k20 A G 2: 72,195,062 (GRCm39) D113G probably damaging Het
Mbd3l1 T C 9: 18,396,417 (GRCm39) S181P probably benign Het
Mccc2 T C 13: 100,104,241 (GRCm39) T303A probably benign Het
Med27 A G 2: 29,303,490 (GRCm39) R147G possibly damaging Het
Mrps5 T A 2: 127,437,762 (GRCm39) S196R possibly damaging Het
Muc21 GGGGTGGGCATAGATCCTGAGGCAGAGCTGGATGCAGTGGTGGTCAGGGTGGG GGGGTGGG 17: 35,932,935 (GRCm39) probably benign Het
Myo16 A T 8: 10,526,185 (GRCm39) probably null Het
Nudt2 A T 4: 41,477,575 (GRCm39) M19L probably benign Het
Pcdha11 C T 18: 37,146,245 (GRCm39) P779S probably benign Het
Phykpl A G 11: 51,489,530 (GRCm39) T379A probably benign Het
Plekha8 A C 6: 54,601,206 (GRCm39) M270L probably benign Het
Plekhg5 A G 4: 152,192,885 (GRCm39) H593R probably benign Het
Polr2a T C 11: 69,637,196 (GRCm39) N293S possibly damaging Het
Pramel32 G A 4: 88,548,184 (GRCm39) P74S probably benign Het
Prex2 T A 1: 11,232,532 (GRCm39) N866K probably benign Het
Psme4 A T 11: 30,757,790 (GRCm39) I308L probably benign Het
Ptprb T C 10: 116,177,309 (GRCm39) V1003A probably benign Het
Rnaset2b A T 17: 7,259,166 (GRCm39) D144V probably benign Het
Senp6 T G 9: 80,033,481 (GRCm39) D662E probably damaging Het
Serpinb3c T C 1: 107,200,817 (GRCm39) N200S possibly damaging Het
Serpinb9g C G 13: 33,672,543 (GRCm39) Y113* probably null Het
Sgf29 T C 7: 126,270,821 (GRCm39) I134T probably benign Het
Sh3bp4 T G 1: 89,080,824 (GRCm39) probably null Het
Stab1 G A 14: 30,862,783 (GRCm39) L2243F probably damaging Het
Sympk T C 7: 18,769,770 (GRCm39) V149A probably benign Het
Syt3 C T 7: 44,041,953 (GRCm39) Q271* probably null Het
Tas2r109 A G 6: 132,957,663 (GRCm39) I89T probably benign Het
Tgif1 A G 17: 71,151,847 (GRCm39) S255P probably damaging Het
Tm9sf1 G A 14: 55,875,432 (GRCm39) probably benign Het
Tnf A G 17: 35,419,347 (GRCm39) F161S possibly damaging Het
Topaz1 T A 9: 122,579,428 (GRCm39) S779R possibly damaging Het
Topors A G 4: 40,260,540 (GRCm39) S915P unknown Het
Tpm4 C T 8: 72,900,321 (GRCm39) L161F probably damaging Het
Trim38 C T 13: 23,975,384 (GRCm39) T441I probably damaging Het
Trpv1 A G 11: 73,141,620 (GRCm39) M548V probably benign Het
Vmn2r68 T A 7: 84,883,042 (GRCm39) T237S probably benign Het
Zc3hav1 A G 6: 38,309,209 (GRCm39) S538P probably benign Het
Zfp541 C T 7: 15,813,294 (GRCm39) T649I 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
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
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
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'- GCACTTCAGCACTCTTGAAGG -3'
(R):5'- AGGCACATATGTGGTGTACAG -3'

Sequencing Primer
(F):5'- GCACTTCAGCACTCTTGAAGGTATAG -3'
(R):5'- TGTACAGACACATACACACAGG -3'
Posted On 2019-06-26