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

9930104E21Rik, CtIP

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

11633276-11743207 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 11727166 bp (GRCm38)

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: 46,625,606		noncoding transcript	Het
Abcb4	T	A	5: 8,905,989	S98T	probably benign	Het
Acan	T	C	7: 79,100,793	S1771P	probably damaging	Het
Acvr1c	T	A	2: 58,315,975	Q41L	probably benign	Het
Ak2	T	A	4: 129,008,229	S232T	probably benign	Het
Akr1e1	T	A	13: 4,607,565		probably benign	Het
Ano7	T	C	1: 93,400,581		probably benign	Het
Aox1	T	A	1: 58,047,141	H68Q	possibly damaging	Het
Apaf1	A	G	10: 91,061,814	V269A	possibly damaging	Het
Apba2	A	T	7: 64,733,542	I368F	probably damaging	Het
Armc3	A	G	2: 19,288,936	M513V	probably benign	Het
Asb5	G	A	8: 54,583,620	V116M	probably damaging	Het
Atg16l2	A	G	7: 101,294,920	S280P	possibly damaging	Het
Atp6v0c	G	T	17: 24,164,861	T40K	probably damaging	Het
C330027C09Rik	T	C	16: 49,005,851		probably benign	Het
Cdk2ap2	A	G	19: 4,097,903	M57V	possibly damaging	Het
Ctnnd1	T	C	2: 84,620,360	N172S	probably benign	Het
Ddx55	T	A	5: 124,566,440	V370E	probably damaging	Het
Ddx6	A	G	9: 44,607,534	T48A	probably benign	Het
Dnah10	C	T	5: 124,833,988	R4490W	probably damaging	Het
Dspp	T	A	5: 104,178,559	S929R	unknown	Het
Erbb3	T	C	10: 128,586,225	Y50C	probably benign	Het
Fam209	C	A	2: 172,472,769	N59K	probably benign	Het
Fgd3	T	C	13: 49,296,455	E106G	probably benign	Het
Frmd4a	A	C	2: 4,572,365	K344T	probably damaging	Het
Gbe1	A	G	16: 70,528,926	E617G	probably damaging	Het
Gm5089	T	A	14: 122,436,274	I12F	unknown	Het
Gm7052	T	A	17: 22,039,939		probably benign	Het
Gria1	A	T	11: 57,012,104	N24I	possibly damaging	Het
Grin2b	T	C	6: 135,733,245	E1101G	probably damaging	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Kcnma1	A	C	14: 23,337,029	S982A	probably damaging	Het
Khdrbs3	T	A	15: 69,013,479		probably benign	Het
Kif23	A	T	9: 61,927,384	C426*	probably null	Het
Lmo7	G	T	14: 101,887,061	A319S	probably benign	Het
Ly6c1	T	A	15: 75,048,493	T7S	possibly damaging	Het
Magel2	G	A	7: 62,379,096	V583I	unknown	Het
Mamdc4	A	T	2: 25,567,232	W548R	probably damaging	Het
Mfsd2a	C	T	4: 122,956,816	R88Q	probably damaging	Het
Mkrn1	T	C	6: 39,405,803	T158A	probably benign	Het
Mroh2b	G	T	15: 4,925,684	D720Y	probably damaging	Het
Mycbp2	A	G	14: 103,248,403	V1041A	probably damaging	Het
Ncam2	A	T	16: 81,589,698	H655L	possibly damaging	Het
Npas2	T	C	1: 39,338,195	V546A	probably benign	Het
Nrxn3	G	A	12: 90,332,315	A400T	probably damaging	Het
Olfr1020	T	A	2: 85,850,400	V316E	probably benign	Het
Olfr1066	T	C	2: 86,455,473	H266R	probably benign	Het
Olfr139	A	T	11: 74,045,039	S78R	possibly damaging	Het
Oog3	G	T	4: 144,158,105	H420Q	possibly damaging	Het
Pak7	T	A	2: 136,116,637	H177L	probably benign	Het
Pcca	A	G	14: 122,887,065	I683V	probably benign	Het
Pea15a	T	C	1: 172,198,685	I90V	probably benign	Het
Plagl1	C	A	10: 13,128,658		probably benign	Het
Prmt1	A	G	7: 44,978,724	V237A	probably damaging	Het
Ptprz1	T	A	6: 23,027,834	Y910*	probably null	Het
Rasal3	T	A	17: 32,393,611	T757S	probably damaging	Het
S1pr1	A	G	3: 115,712,895	S17P	probably benign	Het
Scel	G	A	14: 103,541,985	V131M	probably damaging	Het
Scn2a	G	A	2: 65,682,083	R188Q	probably null	Het
Snap29	T	A	16: 17,406,326	Y68*	probably null	Het
Spdl1	T	C	11: 34,822,646	T199A	probably benign	Het
Srbd1	T	C	17: 86,142,400	N14D	probably benign	Het
Ston1	G	A	17: 88,635,529	G121D	probably benign	Het
Syt16	G	A	12: 74,235,203	G367E	possibly damaging	Het
Tdpoz1	T	C	3: 93,671,403	T25A	possibly damaging	Het
Tmem182	T	A	1: 40,806,195	Y77N	probably damaging	Het
Tmprss11f	A	T	5: 86,539,768		probably benign	Het
Trp73	T	C	4: 154,081,445	T56A	probably damaging	Het
Trpm3	A	G	19: 22,982,583	K1194R	probably damaging	Het
Ttc39c	T	A	18: 12,697,878		probably null	Het
Ube4b	T	C	4: 149,383,797	D174G	probably benign	Het
Vmn1r211	A	T	13: 22,851,783	M238K	probably damaging	Het
Wsb2	T	A	5: 117,370,733	N77K	probably benign	Het
Xkr4	C	T	1: 3,671,095	R85Q	probably benign	Het
Zmynd11	T	A	13: 9,689,478		probably null	Het

Other mutations in Rbbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00825:Rbbp8	APN	18	11722607	missense	probably benign
IGL01302:Rbbp8	APN	18	11721979	missense	probably benign
IGL01965:Rbbp8	APN	18	11722260	missense	probably benign	0.04
IGL02076:Rbbp8	APN	18	11705819	missense	probably damaging	1.00
IGL02410:Rbbp8	APN	18	11732212	missense	probably damaging	1.00
IGL02823:Rbbp8	APN	18	11732213	missense	possibly damaging	0.89
IGL02859:Rbbp8	APN	18	11738614	missense	probably benign	0.42
IGL02966:Rbbp8	APN	18	11705812	missense	possibly damaging	0.88
IGL03022:Rbbp8	APN	18	11725502	splice site	probably benign
IGL03274:Rbbp8	APN	18	11741076	splice site	probably benign
IGL03367:Rbbp8	APN	18	11721719	missense	probably benign	0.08
R0063:Rbbp8	UTSW	18	11734557	splice site	probably benign
R0063:Rbbp8	UTSW	18	11734557	splice site	probably benign
R0167:Rbbp8	UTSW	18	11660922	nonsense	probably null
R0314:Rbbp8	UTSW	18	11715818	missense	probably benign	0.17
R0864:Rbbp8	UTSW	18	11732184	splice site	probably benign
R1033:Rbbp8	UTSW	18	11742705	missense	probably benign	0.41
R1678:Rbbp8	UTSW	18	11732315	missense	probably benign	0.05
R1964:Rbbp8	UTSW	18	11742679	missense	possibly damaging	0.62
R2015:Rbbp8	UTSW	18	11720624	missense	probably benign	0.01
R2240:Rbbp8	UTSW	18	11677669	missense	probably damaging	0.99
R2308:Rbbp8	UTSW	18	11696776	missense	possibly damaging	0.95
R3946:Rbbp8	UTSW	18	11718868	missense	probably benign
R4375:Rbbp8	UTSW	18	11725410	missense	probably benign	0.00
R4590:Rbbp8	UTSW	18	11732265	nonsense	probably null
R4695:Rbbp8	UTSW	18	11721782	nonsense	probably null
R4769:Rbbp8	UTSW	18	11722670	missense	probably damaging	1.00
R5161:Rbbp8	UTSW	18	11722114	missense	probably damaging	1.00
R5195:Rbbp8	UTSW	18	11722151	missense	probably benign	0.00
R5223:Rbbp8	UTSW	18	11721690	missense	probably benign	0.19
R5573:Rbbp8	UTSW	18	11722607	missense	probably benign
R5671:Rbbp8	UTSW	18	11742642	missense	probably benign	0.00
R6051:Rbbp8	UTSW	18	11738607	missense	probably benign	0.17
R6995:Rbbp8	UTSW	18	11718908	missense	probably damaging	1.00
R7048:Rbbp8	UTSW	18	11732220	missense	possibly damaging	0.92
R7261:Rbbp8	UTSW	18	11705742	missense	probably damaging	0.99
R7305:Rbbp8	UTSW	18	11672581	critical splice acceptor site	probably null
R7319:Rbbp8	UTSW	18	11732212	missense	probably damaging	1.00
R7447:Rbbp8	UTSW	18	11660877	missense	probably benign	0.00
R7949:Rbbp8	UTSW	18	11718835	missense	probably benign	0.00
R8010:Rbbp8	UTSW	18	11722233	missense	possibly damaging	0.67
R8116:Rbbp8	UTSW	18	11722670	missense	probably damaging	1.00
R8292:Rbbp8	UTSW	18	11705712	missense	probably benign
R8300:Rbbp8	UTSW	18	11705776	synonymous	silent
R8314:Rbbp8	UTSW	18	11720625	missense	probably benign	0.06
R8510:Rbbp8	UTSW	18	11696802	nonsense	probably null
R8961:Rbbp8	UTSW	18	11732205	missense	probably benign	0.18
R9056:Rbbp8	UTSW	18	11677620	missense	possibly damaging	0.65
R9086:Rbbp8	UTSW	18	11742679	missense	possibly damaging	0.62
R9375:Rbbp8	UTSW	18	11705831	missense	probably benign
R9391:Rbbp8	UTSW	18	11721933	missense	possibly damaging	0.49
R9763:Rbbp8	UTSW	18	11732204	missense	probably benign	0.01
Z1176:Rbbp8	UTSW	18	11732262	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