Incidental Mutation 'R0864:Rbbp8'
| ID |
82273 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
039038-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0864 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 11865241 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047322]
[ENSMUST00000115861]
|
| AlphaFold |
Q80YR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047322
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
| 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
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
| 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: 99.8%
- 3x: 99.1%
- 10x: 97.3%
- 20x: 93.8%
|
| Validation Efficiency |
93% (39/42) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr2a |
A |
G |
2: 48,784,798 (GRCm39) |
|
probably benign |
Het |
| Alx4 |
A |
G |
2: 93,473,200 (GRCm39) |
Y66C |
probably damaging |
Het |
| Apol7e |
T |
A |
15: 77,601,993 (GRCm39) |
V197E |
probably damaging |
Het |
| Chac1 |
C |
A |
2: 119,183,950 (GRCm39) |
A184E |
probably damaging |
Het |
| Clmn |
G |
A |
12: 104,756,274 (GRCm39) |
T192I |
possibly damaging |
Het |
| Csmd1 |
T |
A |
8: 16,240,040 (GRCm39) |
Y1124F |
probably damaging |
Het |
| Ctnnbl1 |
C |
T |
2: 157,641,337 (GRCm39) |
|
probably benign |
Het |
| D430041D05Rik |
G |
A |
2: 104,060,773 (GRCm39) |
P1374S |
possibly damaging |
Het |
| Dyrk4 |
T |
C |
6: 126,854,296 (GRCm39) |
E499G |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,471,074 (GRCm39) |
I1603N |
probably damaging |
Het |
| Fbn1 |
A |
T |
2: 125,184,811 (GRCm39) |
C1660* |
probably null |
Het |
| Gapt |
G |
C |
13: 110,490,273 (GRCm39) |
T130R |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,808,426 (GRCm39) |
I41V |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Map4 |
A |
G |
9: 109,808,037 (GRCm39) |
Y34C |
probably damaging |
Het |
| Mapk8 |
C |
T |
14: 33,114,949 (GRCm39) |
R189H |
probably damaging |
Het |
| Mprip |
T |
C |
11: 59,649,587 (GRCm39) |
V1097A |
probably benign |
Het |
| Msh2 |
A |
G |
17: 87,987,480 (GRCm39) |
T207A |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,570,820 (GRCm39) |
S627G |
probably benign |
Het |
| Nbeal2 |
G |
A |
9: 110,457,263 (GRCm39) |
T2266I |
probably damaging |
Het |
| Pdcd6ip |
A |
T |
9: 113,503,578 (GRCm39) |
|
probably benign |
Het |
| Pdk2 |
A |
G |
11: 94,918,759 (GRCm39) |
Y339H |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,632,823 (GRCm39) |
D583G |
probably benign |
Het |
| Plin4 |
T |
A |
17: 56,410,966 (GRCm39) |
M1022L |
probably benign |
Het |
| Pmpca |
G |
A |
2: 26,283,221 (GRCm39) |
|
probably null |
Het |
| Rbbp4 |
G |
T |
4: 129,214,344 (GRCm39) |
|
probably benign |
Het |
| Rbms3 |
A |
T |
9: 117,458,860 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,266,049 (GRCm39) |
S726T |
possibly damaging |
Het |
| Supt4a |
T |
A |
11: 87,633,913 (GRCm39) |
S88T |
probably benign |
Het |
| Tmem245 |
G |
T |
4: 56,890,837 (GRCm39) |
H321Q |
probably damaging |
Het |
| Trim43c |
A |
T |
9: 88,725,087 (GRCm39) |
H202L |
probably benign |
Het |
| Trip12 |
A |
G |
1: 84,721,730 (GRCm39) |
F1334S |
probably damaging |
Het |
| Vmn1r36 |
T |
C |
6: 66,693,840 (GRCm39) |
T12A |
probably null |
Het |
| Ywhae |
T |
G |
11: 75,650,256 (GRCm39) |
|
probably null |
Het |
| Zc3h4 |
T |
A |
7: 16,154,104 (GRCm39) |
S131T |
probably damaging |
Het |
| Zfp280b |
C |
T |
10: 75,874,139 (GRCm39) |
T6M |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTCCAGCTCACTCCATATTCAGTAA -3'
(R):5'- AAGTAACTGggagagaaggctcaagt -3'
Sequencing Primer
(F):5'- TCTCTCTTGACAAGGTGACAG -3'
(R):5'- gattcacaaccttctgtaactcc -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation