Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02823:Rbbp8'

361089

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbbp8

Ensembl Gene

ENSMUSG00000041238

Gene Name

retinoblastoma binding protein 8, endonuclease

Synonyms

9930104E21Rik, CtIP

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02823

Quality Score

Status

Chromosome

Chromosomal Location

11633276-11743207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11732213 bp

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]

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

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

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

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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	T	C	13: 77,261,955	S194P	probably damaging	Het
3110043O21Rik	A	T	4: 35,213,031	C215S	probably damaging	Het
Abca7	T	A	10: 80,008,822	D1488E	probably damaging	Het
Abhd18	A	G	3: 40,933,518		probably benign	Het
Atp6ap1l	A	G	13: 90,899,525	V56A	probably benign	Het
Atrip	A	G	9: 109,061,178	Y631H	probably damaging	Het
Dst	A	T	1: 34,192,083	H3097L	possibly damaging	Het
Ear1	G	T	14: 43,819,045	S122*	probably null	Het
Eif2a	G	T	3: 58,548,671	A364S	probably benign	Het
Eps8l2	A	T	7: 141,342,075	D22V	probably damaging	Het
Fam84b	T	C	15: 60,823,123	D258G	probably damaging	Het
Fndc7	A	G	3: 108,869,171	F432S	probably damaging	Het
Gemin5	T	C	11: 58,167,705		probably benign	Het
Grxcr2	T	C	18: 41,991,981	K121E	probably damaging	Het
Gucy1a2	T	C	9: 3,894,656	I713T	possibly damaging	Het
Hs3st1	A	G	5: 39,614,757	L181P	probably damaging	Het
Ksr1	C	A	11: 79,021,403	V627L	probably benign	Het
Lama2	T	C	10: 27,001,145	N2682D	probably damaging	Het
Map3k19	G	T	1: 127,822,264	H1117N	probably benign	Het
Mdc1	C	T	17: 35,852,923	A1121V	probably damaging	Het
Nlrp1a	C	T	11: 71,092,423	S1239N	probably damaging	Het
Olfr322	T	C	11: 58,665,967	M136T	possibly damaging	Het
Prkra	G	T	2: 76,630,424	A310E	probably damaging	Het
Prl2c1	T	C	13: 27,856,433		probably benign	Het
Prl7a2	T	C	13: 27,662,751	Y93C	possibly damaging	Het
Prob1	A	T	18: 35,652,747	V818E	possibly damaging	Het
Rexo4	T	C	2: 26,962,477	T149A	probably benign	Het
Slc39a2	T	A	14: 51,895,412	Y271N	probably damaging	Het
Sprr2d	T	A	3: 92,340,427	C58*	probably null	Het
Srebf2	G	A	15: 82,199,774	G965D	possibly damaging	Het
Tcof1	T	C	18: 60,816,048	E1265G	probably benign	Het
Terf2	T	C	8: 107,072,625	N389S	possibly damaging	Het
Vsig10l	T	C	7: 43,466,464	S410P	probably damaging	Het
Vwa3b	A	T	1: 37,186,904		probably benign	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
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
R2002:Rbbp8	UTSW	18	11727166	splice site	probably benign
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
Z1176:Rbbp8	UTSW	18	11732262	missense	probably benign	0.01

Posted On

2015-12-18