Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00825:Rbbp8'

13774

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 #

IGL00825

Quality Score

Status

Chromosome

Chromosomal Location

11766333-11876264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11855664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 604 (T604A)

Ref Sequence

ENSEMBL: ENSMUSP00000111527 (fasta)

Gene Model

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

AlphaFold

Q80YR6

Predicted Effect

probably benign
Transcript: ENSMUST00000047322
AA Change: T604A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: T604A

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
AA Change: T604A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: T604A

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: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd3	C	T	18: 10,704,657 (GRCm39)	V129M	probably benign	Het
Casp8	G	A	1: 58,868,165 (GRCm39)	S202N	probably benign	Het
Cimap1c	A	G	9: 56,758,975 (GRCm39)	I60T	probably benign	Het
Clec2g	C	A	6: 128,957,144 (GRCm39)		probably null	Het
Dnah7b	T	C	1: 46,263,811 (GRCm39)	Y2098H	probably damaging	Het
Dzip3	T	C	16: 48,748,778 (GRCm39)	K1053E	probably damaging	Het
Ern1	T	C	11: 106,312,793 (GRCm39)	K196R	probably benign	Het
Jcad	A	T	18: 4,673,516 (GRCm39)	Y426F	probably damaging	Het
Kansl1l	T	C	1: 66,840,671 (GRCm39)	T210A	probably benign	Het
Map2k2	G	A	10: 80,954,052 (GRCm39)	V173I	probably benign	Het
P3h2	A	G	16: 25,811,548 (GRCm39)	I225T	probably damaging	Het
Pld2	G	A	11: 70,442,006 (GRCm39)	W337*	probably null	Het
Ppp2r2b	C	T	18: 42,778,840 (GRCm39)	V429M	probably damaging	Het
Pprc1	G	T	19: 46,059,845 (GRCm39)		probably benign	Het
Ptpn4	A	G	1: 119,587,655 (GRCm39)		probably benign	Het
Rap1gds1	T	A	3: 138,689,588 (GRCm39)	I135F	possibly damaging	Het
Rasa2	A	T	9: 96,452,772 (GRCm39)	N371K	probably benign	Het
Safb2	A	G	17: 56,878,208 (GRCm39)		probably null	Het
Sec23ip	C	A	7: 128,369,333 (GRCm39)	L686I	probably damaging	Het
Slc22a6	T	C	19: 8,595,721 (GRCm39)	V21A	possibly damaging	Het
Slco1c1	A	T	6: 141,487,868 (GRCm39)	N79Y	probably damaging	Het
Tbl1xr1	G	T	3: 22,243,950 (GRCm39)		probably null	Het
Zfp961	T	A	8: 72,721,888 (GRCm39)	C134S	possibly damaging	Het

Other mutations in Rbbp8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06