Incidental Mutation 'R5161:Rbbp8'
ID |
397026 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbbp8
|
Ensembl Gene |
ENSMUSG00000041238 |
Gene Name |
retinoblastoma binding protein 8, endonuclease |
Synonyms |
CtIP, 9930104E21Rik |
MMRRC Submission |
042743-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5161 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 11855171 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 465
(D465E)
|
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: D465E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046255 Gene: ENSMUSG00000041238 AA Change: D465E
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: D465E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000111527 Gene: ENSMUSG00000041238 AA Change: D465E
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 |
|
Meta Mutation Damage Score |
0.0642 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (56/57) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
0610040J01Rik |
G |
T |
5: 64,055,344 (GRCm39) |
E27* |
probably null |
Het |
4930407I10Rik |
G |
T |
15: 81,947,542 (GRCm39) |
E480* |
probably null |
Het |
Acad11 |
T |
C |
9: 104,001,227 (GRCm39) |
I591T |
probably benign |
Het |
Acsbg3 |
A |
T |
17: 57,189,888 (GRCm39) |
I305F |
possibly damaging |
Het |
Adamts13 |
G |
A |
2: 26,883,020 (GRCm39) |
E857K |
probably benign |
Het |
Atf2 |
A |
C |
2: 73,660,134 (GRCm39) |
|
probably null |
Het |
Cass4 |
C |
A |
2: 172,274,244 (GRCm39) |
A675E |
probably damaging |
Het |
Coa8 |
C |
A |
12: 111,689,208 (GRCm39) |
Q97K |
possibly damaging |
Het |
Ctsd |
A |
T |
7: 141,930,881 (GRCm39) |
L283Q |
probably damaging |
Het |
Ddrgk1 |
A |
T |
2: 130,505,296 (GRCm39) |
M1K |
probably null |
Het |
Dipk1b |
C |
T |
2: 26,526,260 (GRCm39) |
T398M |
possibly damaging |
Het |
Dock1 |
G |
A |
7: 134,335,791 (GRCm39) |
A62T |
possibly damaging |
Het |
Ehmt1 |
T |
C |
2: 24,748,207 (GRCm39) |
D407G |
possibly damaging |
Het |
Eif1ad17 |
T |
A |
12: 87,978,887 (GRCm39) |
D90E |
possibly damaging |
Het |
Eml6 |
A |
G |
11: 29,974,467 (GRCm39) |
V37A |
probably damaging |
Het |
Fam20a |
C |
T |
11: 109,564,196 (GRCm39) |
R519Q |
probably benign |
Het |
Fat1 |
A |
G |
8: 45,405,549 (GRCm39) |
T767A |
probably benign |
Het |
Fbxl8 |
A |
T |
8: 105,995,538 (GRCm39) |
H350L |
possibly damaging |
Het |
Gm10226 |
A |
C |
17: 21,910,834 (GRCm39) |
Q23P |
possibly damaging |
Het |
Gm38706 |
A |
T |
6: 130,459,868 (GRCm39) |
|
noncoding transcript |
Het |
Gpatch2l |
G |
T |
12: 86,313,950 (GRCm39) |
R362L |
probably benign |
Het |
Hyal5 |
A |
T |
6: 24,891,602 (GRCm39) |
D472V |
probably benign |
Het |
Ighv5-9-1 |
T |
C |
12: 113,699,777 (GRCm39) |
S102G |
possibly damaging |
Het |
Itpripl1 |
A |
C |
2: 126,983,777 (GRCm39) |
L115R |
probably damaging |
Het |
Itsn1 |
G |
A |
16: 91,705,726 (GRCm39) |
C169Y |
possibly damaging |
Het |
Krt88 |
T |
A |
15: 101,348,349 (GRCm39) |
C12S |
probably benign |
Het |
Macroh2a1 |
T |
C |
13: 56,237,594 (GRCm39) |
D222G |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,582,895 (GRCm39) |
V2557M |
probably damaging |
Het |
Myh7b |
G |
C |
2: 155,474,293 (GRCm39) |
R1669S |
possibly damaging |
Het |
Nbeal2 |
G |
T |
9: 110,458,936 (GRCm39) |
Q1996K |
probably benign |
Het |
Obscn |
T |
C |
11: 58,919,430 (GRCm39) |
E6205G |
probably damaging |
Het |
Obscn |
A |
G |
11: 58,955,136 (GRCm39) |
Y3926H |
possibly damaging |
Het |
Or14a259 |
T |
C |
7: 86,013,546 (GRCm39) |
|
probably null |
Het |
Or5an10 |
A |
T |
19: 12,276,153 (GRCm39) |
S114R |
probably damaging |
Het |
P2ry2 |
A |
T |
7: 100,648,136 (GRCm39) |
Y56* |
probably null |
Het |
Pate10 |
T |
A |
9: 35,652,884 (GRCm39) |
L42* |
probably null |
Het |
Pde1a |
T |
C |
2: 79,708,488 (GRCm39) |
N242S |
probably null |
Het |
Pik3cg |
C |
T |
12: 32,254,977 (GRCm39) |
E337K |
possibly damaging |
Het |
Plxna2 |
A |
G |
1: 194,433,712 (GRCm39) |
N587S |
probably benign |
Het |
Pmpca |
T |
C |
2: 26,285,183 (GRCm39) |
|
probably null |
Het |
Ptpn4 |
C |
T |
1: 119,635,593 (GRCm39) |
W370* |
probably null |
Het |
Qki |
A |
T |
17: 10,434,419 (GRCm39) |
|
probably null |
Het |
Rapgef3 |
A |
G |
15: 97,655,606 (GRCm39) |
V427A |
probably damaging |
Het |
Scn2a |
A |
G |
2: 65,594,935 (GRCm39) |
K1928R |
probably benign |
Het |
Slc5a5 |
A |
C |
8: 71,341,492 (GRCm39) |
C346G |
probably damaging |
Het |
Spata2l |
A |
G |
8: 123,962,288 (GRCm39) |
L91P |
probably damaging |
Het |
Syt3 |
C |
A |
7: 44,045,439 (GRCm39) |
H560N |
possibly damaging |
Het |
Timm23 |
G |
A |
14: 31,915,882 (GRCm39) |
P63L |
probably damaging |
Het |
Tmem191 |
T |
C |
16: 17,094,743 (GRCm39) |
S108P |
possibly damaging |
Het |
Ttc21b |
A |
G |
2: 66,059,367 (GRCm39) |
C545R |
probably damaging |
Het |
Ttc23l |
G |
T |
15: 10,551,636 (GRCm39) |
T30K |
possibly damaging |
Het |
Usp17ld |
A |
T |
7: 102,899,579 (GRCm39) |
L451* |
probably null |
Het |
Vmn1r15 |
T |
C |
6: 57,235,497 (GRCm39) |
Y122H |
probably benign |
Het |
Vxn |
G |
T |
1: 9,692,902 (GRCm39) |
G145* |
probably null |
Het |
Zfp1002 |
A |
T |
2: 150,097,135 (GRCm39) |
I98K |
probably damaging |
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 |
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 |
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'- GGTCAGAAGTGAAGGTCATTAGCC -3'
(R):5'- AGCCTCGTAAATAGTGGCTTG -3'
Sequencing Primer
(F):5'- GTGAAGGTCATTAGCCAGTCATTTTC -3'
(R):5'- CCTCGTAAATAGTGGCTTGCTTAAG -3'
|
Posted On |
2016-06-21 |