Mutagenetix > Incidental Mutation

Incidental Mutation 'R1678:Rbbp8'

188318

Institutional Source

Beutler Lab

Gene Symbol

Rbbp8

Ensembl Gene

ENSMUSG00000041238

Gene Name

retinoblastoma binding protein 8, endonuclease

Synonyms

9930104E21Rik, CtIP

MMRRC Submission

039714-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

11633276-11743207 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11732315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 754 (T754A)

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: T754A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: T754A

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: T754A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: T754A

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: 98.4%
10x: 96.5%
20x: 93.2%

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700074P13Rik	C	A	6: 40,929,519		probably benign	Het
4930402H24Rik	A	G	2: 130,814,273	V105A	probably damaging	Het
Abca17	A	C	17: 24,335,620	I120S	probably benign	Het
Abcb5	A	C	12: 118,965,329		probably benign	Het
Abcc4	T	A	14: 118,594,894	T775S	probably benign	Het
Acnat2	T	A	4: 49,380,568	Y270F	probably damaging	Het
Aif1	G	A	17: 35,172,151	P44L	probably benign	Het
Ankib1	A	G	5: 3,706,301	I548T	probably damaging	Het
Apbb1ip	A	T	2: 22,874,880		probably null	Het
Asb17	C	T	3: 153,844,367	S12F	probably damaging	Het
Atad2b	G	A	12: 4,965,899	V542I	possibly damaging	Het
Atxn7	T	C	14: 14,096,239	F515L	probably damaging	Het
Bicc1	A	G	10: 70,943,518	L680P	probably damaging	Het
Bpifb6	G	A	2: 153,908,642	R351H	probably damaging	Het
C4b	A	G	17: 34,743,650	F26S	probably benign	Het
Cadps	A	G	14: 12,517,802		probably null	Het
Capza1	G	T	3: 104,864,353	S9*	probably null	Het
Ccdc129	G	T	6: 55,968,514	C740F	probably benign	Het
Ccl11	C	T	11: 82,058,040	P25L	probably damaging	Het
Cdyl	A	T	13: 35,856,889	K306N	probably damaging	Het
Cnga3	T	C	1: 37,261,498	V471A	possibly damaging	Het
Col4a4	T	C	1: 82,486,659	K983E	unknown	Het
Cp	A	C	3: 19,972,717	K436N	probably damaging	Het
Csmd1	T	A	8: 15,918,252	D3125V	possibly damaging	Het
Daw1	A	T	1: 83,183,366	N143I	probably damaging	Het
Dmd	T	A	X: 84,974,762	I3067N	probably benign	Het
Dnah11	T	G	12: 117,933,845	N3550T	possibly damaging	Het
Dnm2	T	C	9: 21,467,532	V129A	possibly damaging	Het
Dync1h1	A	T	12: 110,665,662		probably null	Het
Efemp1	G	A	11: 28,916,942	E325K	probably benign	Het
Enox1	A	G	14: 77,577,656	T85A	probably benign	Het
Faim2	C	A	15: 99,520,336	V123F	possibly damaging	Het
Fgfr2	T	C	7: 130,228,620		probably null	Het
Fign	T	C	2: 63,980,374	E184G	probably damaging	Het
Fnd3c2	T	C	X: 106,237,699	T799A	probably benign	Het
Frem2	T	C	3: 53,519,938	D2931G	probably damaging	Het
Fsip2	A	G	2: 82,986,345	T4141A	probably benign	Het
Gigyf2	T	A	1: 87,416,983	M546K	probably benign	Het
Gm21775	G	A	Y: 10,553,867	V139M	probably damaging	Het
Gpr83	G	T	9: 14,866,849	V172F	probably damaging	Het
Jmjd4	A	G	11: 59,453,612	Y179C	probably damaging	Het
Kcnq3	A	G	15: 66,031,432	L143P	probably damaging	Het
Klhl41	T	C	2: 69,670,939	V248A	probably benign	Het
Lama1	T	C	17: 67,810,155	Y2482H	possibly damaging	Het
Lamb2	A	T	9: 108,483,686		probably null	Het
Lclat1	G	A	17: 73,196,720	G162R	probably damaging	Het
Map6	T	C	7: 99,268,098	V26A	probably damaging	Het
Mdn1	A	T	4: 32,663,050	D107V	probably damaging	Het
Metap1d	T	A	2: 71,524,777	V304D	possibly damaging	Het
Naca	A	G	10: 128,043,526		probably benign	Het
Napg	T	C	18: 62,984,072		probably null	Het
Nbeal1	T	A	1: 60,260,334	F7L	probably benign	Het
Ndst2	T	C	14: 20,724,514	T825A	probably benign	Het
Nsun2	T	C	13: 69,627,103	I353T	probably damaging	Het
Nt5c3b	T	A	11: 100,436,210	I87F	probably damaging	Het
Nxf3	T	C	X: 136,075,521	D407G	probably damaging	Het
Olfr568	T	A	7: 102,877,663	V181E	probably damaging	Het
Olfr891	A	T	9: 38,180,637	F62Y	possibly damaging	Het
Osbpl3	A	C	6: 50,336,213		probably null	Het
P2rx3	T	C	2: 85,022,467	T172A	possibly damaging	Het
Pcdh10	G	T	3: 45,381,881	E877*	probably null	Het
Pcdhb9	A	T	18: 37,401,629	K225N	probably damaging	Het
Plch1	A	G	3: 63,740,694	S419P	probably damaging	Het
Prex2	T	G	1: 11,285,089	I1538S	possibly damaging	Het
Rasl10a	A	G	11: 5,059,815	E121G	possibly damaging	Het
Rictor	T	C	15: 6,756,471	V156A	probably benign	Het
Ryr1	A	T	7: 29,116,154	Y104N	probably damaging	Het
Sctr	G	T	1: 120,036,439		probably null	Het
Sptbn2	T	C	19: 4,750,497	Y2247H	probably damaging	Het
Sqle	C	T	15: 59,324,509	R384W	probably damaging	Het
Srcin1	C	A	11: 97,518,644	R1163L	probably damaging	Het
Srp72	A	G	5: 76,980,307	Y125C	probably damaging	Het
Srrm2	T	C	17: 23,818,986	S1535P	probably benign	Het
Sumf2	A	G	5: 129,854,716	E125G	possibly damaging	Het
Tas2r144	A	T	6: 42,215,556	I77F	probably benign	Het
Tcerg1	T	C	18: 42,524,349	S299P	unknown	Het
Tcp1	T	A	17: 12,920,423	N212K	probably benign	Het
Ttc7	G	T	17: 87,361,901	G659C	probably damaging	Het
Ttn	A	T	2: 76,861,559		probably null	Het
Ubtf	A	T	11: 102,308,978	D440E	probably benign	Het
Usp30	A	G	5: 114,121,146	D428G	probably damaging	Het
Vmn2r115	ATCTTCT	ATCT	17: 23,359,988		probably benign	Het
Vmn2r58	G	A	7: 41,864,056	H388Y	probably benign	Het
Wdr60	A	G	12: 116,225,970	S640P	probably damaging	Het
Zbtb49	T	C	5: 38,213,694	D281G	probably damaging	Het
Zfp248	A	G	6: 118,429,804	S174P	probably benign	Het
Zswim9	T	C	7: 13,277,411	T4A	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
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
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
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'- GCTTGCTGCTAAGCCGATGCTTT -3'
(R):5'- CTGGAACCAGCTTTGTGTGTCCT -3'

Sequencing Primer
(F):5'- GTCCTGTTTGGCAGATAGCTTCT -3'
(R):5'- gattcacaaccttctgtaactcc -3'

Posted On

2014-05-09