Mutagenetix > Incidental Mutation

Incidental Mutation 'R2002:Rbbp8'

223276

Institutional Source

Beutler Lab

Gene Symbol

Rbbp8

Ensembl Gene

ENSMUSG00000041238

Gene Name

retinoblastoma binding protein 8, endonuclease

Synonyms

CtIP, 9930104E21Rik

MMRRC Submission

040012-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2002 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11766333-11876264 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 11860223 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111527 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047322] [ENSMUST00000115861]

AlphaFold

Q80YR6

Predicted Effect

probably benign
Transcript: ENSMUST00000047322

SMART Domains

Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000115861

SMART Domains

Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.6%

Validation Efficiency

97% (72/74)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548G14Rik	T	C	15: 46,489,002 (GRCm39)		noncoding transcript	Het
Abcb4	T	A	5: 8,955,989 (GRCm39)	S98T	probably benign	Het
Acan	T	C	7: 78,750,541 (GRCm39)	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,205,987 (GRCm39)	Q41L	probably benign	Het
Ak2	T	A	4: 128,902,022 (GRCm39)	S232T	probably benign	Het
Akr1e1	T	A	13: 4,657,564 (GRCm39)		probably benign	Het
Ano7	T	C	1: 93,328,303 (GRCm39)		probably benign	Het
Aox1	T	A	1: 58,086,300 (GRCm39)	H68Q	possibly damaging	Het
Apaf1	A	G	10: 90,897,676 (GRCm39)	V269A	possibly damaging	Het
Apba2	A	T	7: 64,383,290 (GRCm39)	I368F	probably damaging	Het
Armc3	A	G	2: 19,293,747 (GRCm39)	M513V	probably benign	Het
Asb5	G	A	8: 55,036,655 (GRCm39)	V116M	probably damaging	Het
Atg16l2	A	G	7: 100,944,127 (GRCm39)	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,383,835 (GRCm39)	T40K	probably damaging	Het
Cdk2ap2	A	G	19: 4,147,903 (GRCm39)	M57V	possibly damaging	Het
Cip2a	T	C	16: 48,826,214 (GRCm39)		probably benign	Het
Ctnnd1	T	C	2: 84,450,704 (GRCm39)	N172S	probably benign	Het
Ddx55	T	A	5: 124,704,503 (GRCm39)	V370E	probably damaging	Het
Ddx6	A	G	9: 44,518,831 (GRCm39)	T48A	probably benign	Het
Dnah10	C	T	5: 124,911,052 (GRCm39)	R4490W	probably damaging	Het
Dspp	T	A	5: 104,326,425 (GRCm39)	S929R	unknown	Het
Erbb3	T	C	10: 128,422,094 (GRCm39)	Y50C	probably benign	Het
Fam209	C	A	2: 172,314,689 (GRCm39)	N59K	probably benign	Het
Fgd3	T	C	13: 49,449,931 (GRCm39)	E106G	probably benign	Het
Frmd4a	A	C	2: 4,577,176 (GRCm39)	K344T	probably damaging	Het
Gbe1	A	G	16: 70,325,814 (GRCm39)	E617G	probably damaging	Het
Gm5089	T	A	14: 122,673,686 (GRCm39)	I12F	unknown	Het
Gm7052	T	A	17: 22,258,920 (GRCm39)		probably benign	Het
Gria1	A	T	11: 56,902,930 (GRCm39)	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,710,243 (GRCm39)	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Kcnma1	A	C	14: 23,387,097 (GRCm39)	S982A	probably damaging	Het
Khdrbs3	T	A	15: 68,885,328 (GRCm39)		probably benign	Het
Kif23	A	T	9: 61,834,666 (GRCm39)	C426*	probably null	Het
Lmo7	G	T	14: 102,124,497 (GRCm39)	A319S	probably benign	Het
Ly6c1	T	A	15: 74,920,342 (GRCm39)	T7S	possibly damaging	Het
Magel2	G	A	7: 62,028,844 (GRCm39)	V583I	unknown	Het
Mamdc4	A	T	2: 25,457,244 (GRCm39)	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,850,609 (GRCm39)	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,382,737 (GRCm39)	T158A	probably benign	Het
Mroh2b	G	T	15: 4,955,166 (GRCm39)	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,485,839 (GRCm39)	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,386,586 (GRCm39)	H655L	possibly damaging	Het
Npas2	T	C	1: 39,377,276 (GRCm39)	V546A	probably benign	Het
Nrxn3	G	A	12: 90,299,089 (GRCm39)	A400T	probably damaging	Het
Oog3	G	T	4: 143,884,675 (GRCm39)	H420Q	possibly damaging	Het
Or3a10	A	T	11: 73,935,865 (GRCm39)	S78R	possibly damaging	Het
Or5ap2	T	A	2: 85,680,744 (GRCm39)	V316E	probably benign	Het
Or8k28	T	C	2: 86,285,817 (GRCm39)	H266R	probably benign	Het
Pak5	T	A	2: 135,958,557 (GRCm39)	H177L	probably benign	Het
Pcca	A	G	14: 123,124,477 (GRCm39)	I683V	probably benign	Het
Pea15a	T	C	1: 172,026,252 (GRCm39)	I90V	probably benign	Het
Plagl1	C	A	10: 13,004,402 (GRCm39)		probably benign	Het
Prmt1	A	G	7: 44,628,148 (GRCm39)	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,833 (GRCm39)	Y910*	probably null	Het
Rasal3	T	A	17: 32,612,585 (GRCm39)	T757S	probably damaging	Het
S1pr1	A	G	3: 115,506,544 (GRCm39)	S17P	probably benign	Het
Scel	G	A	14: 103,779,421 (GRCm39)	V131M	probably damaging	Het
Scn2a	G	A	2: 65,512,427 (GRCm39)	R188Q	probably null	Het
Snap29	T	A	16: 17,224,190 (GRCm39)	Y68*	probably null	Het
Spdl1	T	C	11: 34,713,473 (GRCm39)	T199A	probably benign	Het
Srbd1	T	C	17: 86,449,828 (GRCm39)	N14D	probably benign	Het
Ston1	G	A	17: 88,942,957 (GRCm39)	G121D	probably benign	Het
Syt16	G	A	12: 74,281,977 (GRCm39)	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,578,710 (GRCm39)	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,845,355 (GRCm39)	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,687,627 (GRCm39)		probably benign	Het
Trp73	T	C	4: 154,165,902 (GRCm39)	T56A	probably damaging	Het
Trpm3	A	G	19: 22,959,947 (GRCm39)	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,830,935 (GRCm39)		probably null	Het
Ube4b	T	C	4: 149,468,254 (GRCm39)	D174G	probably benign	Het
Vmn1r211	A	T	13: 23,035,953 (GRCm39)	M238K	probably damaging	Het
Wsb2	T	A	5: 117,508,798 (GRCm39)	N77K	probably benign	Het
Xkr4	C	T	1: 3,741,318 (GRCm39)	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,739,514 (GRCm39)		probably null	Het

Other mutations in Rbbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

Predicted Primers

PCR Primer
(F):5'- TCCTAAGGTACAAAAGGAAATATGGC -3'
(R):5'- TGACTATACATCTCATTCCACATTTG -3'

Sequencing Primer
(F):5'- CAGATCTCTTGAGTTTGAGGCCAAC -3'
(R):5'- CATTCCACATTTGATCAAAGTAACC -3'

Posted On

2014-08-25