Incidental Mutation 'IGL03274:Rbbp8'
| ID |
415373 |
| 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)
|
| Stock # |
IGL03274
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 11874133 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 |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adissp |
A |
T |
2: 130,995,512 (GRCm39) |
|
probably null |
Het |
| Anln |
C |
A |
9: 22,293,565 (GRCm39) |
R26M |
probably damaging |
Het |
| Capn15 |
A |
T |
17: 26,180,812 (GRCm39) |
S753T |
probably damaging |
Het |
| Ccdc62 |
A |
G |
5: 124,092,743 (GRCm39) |
N576S |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,508,900 (GRCm39) |
D2895G |
probably damaging |
Het |
| Dspp |
T |
A |
5: 104,322,814 (GRCm39) |
V37E |
probably damaging |
Het |
| Efcab3 |
A |
T |
11: 104,611,919 (GRCm39) |
D587V |
probably benign |
Het |
| Efcab6 |
T |
C |
15: 83,752,450 (GRCm39) |
D1473G |
probably damaging |
Het |
| Ehhadh |
T |
C |
16: 21,582,090 (GRCm39) |
|
probably benign |
Het |
| Fbln1 |
T |
C |
15: 85,116,879 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
A |
G |
5: 105,230,652 (GRCm39) |
V424A |
possibly damaging |
Het |
| Gda |
T |
C |
19: 21,394,371 (GRCm39) |
Y236C |
possibly damaging |
Het |
| Gm4884 |
A |
G |
7: 40,693,969 (GRCm39) |
E646G |
probably damaging |
Het |
| Gm4952 |
C |
A |
19: 12,600,960 (GRCm39) |
|
probably benign |
Het |
| Gm5422 |
G |
T |
10: 31,126,348 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
C |
T |
6: 135,757,253 (GRCm39) |
D403N |
possibly damaging |
Het |
| Hsf2bp |
G |
A |
17: 32,226,744 (GRCm39) |
R204C |
probably damaging |
Het |
| Il16 |
T |
C |
7: 83,310,442 (GRCm39) |
E488G |
probably damaging |
Het |
| Kat6b |
G |
T |
14: 21,659,831 (GRCm39) |
D212Y |
possibly damaging |
Het |
| Kctd2 |
A |
C |
11: 115,320,208 (GRCm39) |
I247L |
possibly damaging |
Het |
| Kel |
T |
A |
6: 41,664,929 (GRCm39) |
|
probably null |
Het |
| Krt20 |
A |
T |
11: 99,320,855 (GRCm39) |
|
probably benign |
Het |
| Litaf |
T |
C |
16: 10,784,433 (GRCm39) |
T26A |
probably damaging |
Het |
| N4bp2l2 |
G |
T |
5: 150,584,931 (GRCm39) |
Q350K |
probably damaging |
Het |
| Nav2 |
T |
G |
7: 49,011,847 (GRCm39) |
I26S |
probably damaging |
Het |
| Nfya |
A |
G |
17: 48,698,375 (GRCm39) |
Y162H |
probably damaging |
Het |
| Or2g25 |
C |
T |
17: 37,970,646 (GRCm39) |
A193T |
probably benign |
Het |
| Pbx4 |
A |
T |
8: 70,319,200 (GRCm39) |
S244C |
probably damaging |
Het |
| Pcdhb16 |
T |
C |
18: 37,612,285 (GRCm39) |
V415A |
probably benign |
Het |
| Sp100 |
T |
C |
1: 85,635,025 (GRCm39) |
|
probably benign |
Het |
| Spag16 |
A |
G |
1: 69,883,540 (GRCm39) |
|
probably benign |
Het |
| Star |
A |
G |
8: 26,301,082 (GRCm39) |
D138G |
possibly 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 |
|
|
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 |
2016-08-02 |
Incidental Mutation