Mutagenetix > Incidental Mutation

Incidental Mutation 'R2240:Rbbp8'

240357

Institutional Source

Beutler Lab

Gene Symbol

Rbbp8

Ensembl Gene

ENSMUSG00000041238

Gene Name

retinoblastoma binding protein 8, endonuclease

Synonyms

CtIP, 9930104E21Rik

MMRRC Submission

040240-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2240 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11766333-11876264 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11810726 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 76 (T76I)

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: T76I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: T76I

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 damaging
Transcript: ENSMUST00000115861
AA Change: T76I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: T76I

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.5%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,595,417 (GRCm39)	I318N	probably damaging	Het
Abl1	A	G	2: 31,690,517 (GRCm39)	K679E	probably benign	Het
Actr8	A	G	14: 29,711,714 (GRCm39)	H420R	possibly damaging	Het
Arhgap29	T	A	3: 121,805,102 (GRCm39)	V897D	probably benign	Het
Bckdk	C	A	7: 127,504,590 (GRCm39)	R105S	probably damaging	Het
Bicc1	A	G	10: 70,782,633 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,432,613 (GRCm39)		probably benign	Het
Camk2g	T	C	14: 20,815,514 (GRCm39)	E184G	probably damaging	Het
Camta1	T	C	4: 151,169,032 (GRCm39)	S240G	possibly damaging	Het
Cbx7	C	A	15: 79,802,558 (GRCm39)	A240S	probably damaging	Het
Ccdc181	A	T	1: 164,107,596 (GRCm39)	D93V	probably damaging	Het
Ces2g	A	C	8: 105,689,134 (GRCm39)	S37R	probably benign	Het
Clca3a1	T	A	3: 144,714,746 (GRCm39)	R624W	probably damaging	Het
Clca3b	T	C	3: 144,531,696 (GRCm39)	K703E	probably benign	Het
Clec2h	T	C	6: 128,652,845 (GRCm39)	V204A	probably benign	Het
Cltb	T	C	13: 54,746,967 (GRCm39)	N3S	possibly damaging	Het
Col9a1	A	G	1: 24,218,582 (GRCm39)	I65V	unknown	Het
D430041D05Rik	C	T	2: 103,987,161 (GRCm39)	R1895Q	probably damaging	Het
Dnah1	T	C	14: 31,021,931 (GRCm39)	S1191G	probably benign	Het
Ehf	G	A	2: 103,104,420 (GRCm39)	P163S	probably benign	Het
Fam170b	A	C	14: 32,557,825 (GRCm39)	H220P	probably damaging	Het
Fastkd1	G	A	2: 69,527,297 (GRCm39)	T598I	probably benign	Het
Fignl2	C	T	15: 100,951,916 (GRCm39)	G122D	probably damaging	Het
Foxp4	C	A	17: 48,182,201 (GRCm39)	V530L	unknown	Het
Gcnt1	G	T	19: 17,306,695 (GRCm39)	D343E	possibly damaging	Het
Gja8	T	G	3: 96,827,618 (GRCm39)	N15H	probably benign	Het
Gm128	T	C	3: 95,148,243 (GRCm39)	E17G	probably benign	Het
Gnl1	T	C	17: 36,293,571 (GRCm39)	V252A	probably benign	Het
Gpld1	G	A	13: 25,166,490 (GRCm39)		probably null	Het
Gpr179	A	G	11: 97,242,559 (GRCm39)	L95P	probably damaging	Het
Gtf2a1	A	T	12: 91,553,513 (GRCm39)	D31E	possibly damaging	Het
Il12a	T	A	3: 68,601,517 (GRCm39)	Y58*	probably null	Het
Il1r2	T	C	1: 40,144,630 (GRCm39)	W106R	probably damaging	Het
Kif26b	A	G	1: 178,543,488 (GRCm39)	S374G	probably benign	Het
Mafb	A	T	2: 160,207,947 (GRCm39)	V217E	probably damaging	Het
Mapk13	T	A	17: 28,997,085 (GRCm39)	D292E	probably damaging	Het
Matn2	A	G	15: 34,433,209 (GRCm39)	D871G	probably damaging	Het
Mdn1	C	A	4: 32,765,701 (GRCm39)	T5220K	possibly damaging	Het
Mfsd6	T	C	1: 52,699,978 (GRCm39)	I723M	probably damaging	Het
Mia2	G	A	12: 59,154,668 (GRCm39)	S127N	probably benign	Het
Mpeg1	A	C	19: 12,440,402 (GRCm39)	E620A	probably damaging	Het
Mrgprb3	A	T	7: 48,293,389 (GRCm39)	F54Y	probably damaging	Het
Mtx2	A	G	2: 74,699,696 (GRCm39)	I156V	probably benign	Het
Neurog1	T	C	13: 56,399,348 (GRCm39)	E133G	probably damaging	Het
Nid2	G	A	14: 19,855,982 (GRCm39)	D1236N	probably damaging	Het
Nif3l1	A	G	1: 58,491,288 (GRCm39)	T213A	probably benign	Het
Or7e173	A	G	9: 19,938,440 (GRCm39)	S265P	probably damaging	Het
Otog	A	G	7: 45,890,453 (GRCm39)	M1V	probably null	Het
Pde4dip	C	T	3: 97,631,480 (GRCm39)	R1143K	probably benign	Het
Pgam2	T	C	11: 5,753,265 (GRCm39)		probably benign	Het
Plec	T	C	15: 76,090,250 (GRCm39)	D30G	probably damaging	Het
Pramel5	C	A	4: 143,999,506 (GRCm39)	E194*	probably null	Het
Prss22	T	A	17: 24,215,755 (GRCm39)	S56C	probably damaging	Het
Rab23	A	G	1: 33,778,406 (GRCm39)	N216S	probably benign	Het
Rasgrf1	A	T	9: 89,858,815 (GRCm39)	E491V	probably damaging	Het
Rtn2	G	A	7: 19,020,754 (GRCm39)		probably null	Het
Sdr39u1	A	T	14: 56,137,124 (GRCm39)	N62K	probably damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc26a3	T	C	12: 31,507,071 (GRCm39)	V342A	probably damaging	Het
Slc49a3	A	G	5: 108,592,573 (GRCm39)	S234P	probably benign	Het
Snx30	G	T	4: 59,886,515 (GRCm39)	C308F	probably damaging	Het
Timd2	A	T	11: 46,569,043 (GRCm39)	V205E	probably benign	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Tnfaip6	G	A	2: 51,940,926 (GRCm39)	D156N	probably benign	Het
Uggt2	T	A	14: 119,232,461 (GRCm39)	E1463D	probably damaging	Het
Urb2	C	A	8: 124,756,878 (GRCm39)	P862T	probably benign	Het
Vmn1r64	A	T	7: 5,887,369 (GRCm39)	L58*	probably null	Het
Vmn2r3	C	A	3: 64,166,483 (GRCm39)	G883C	probably benign	Het
Vps13d	A	T	4: 144,837,465 (GRCm39)	C2707S	possibly damaging	Het
Wdr11	G	T	7: 129,207,418 (GRCm39)		probably null	Het
Wdr37	T	A	13: 8,911,268 (GRCm39)		probably benign	Het
Wtap	G	A	17: 13,194,352 (GRCm39)	Q95*	probably null	Het
Zfp26	A	T	9: 20,348,563 (GRCm39)	L667H	probably damaging	Het
Zfp268	C	T	4: 145,311,891 (GRCm39)		probably benign	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
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
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'- ACCACTAGTGCAGATGCCATTC -3'
(R):5'- AAAACCTAGCAGTATATTGTCAGCC -3'

Sequencing Primer
(F):5'- TATTCTGCCCGCATGCAAGAAG -3'
(R):5'- AGCAGTATATTGTCAGCCTTATAAAG -3'

Posted On

2014-10-15