Incidental Mutation 'IGL01965:Rbbp8'
ID |
182485 |
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 # |
IGL01965
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 11855317 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Isoleucine
at position 514
(K514I)
|
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: K514I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000046255 Gene: ENSMUSG00000041238 AA Change: K514I
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: K514I
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000111527 Gene: ENSMUSG00000041238 AA Change: K514I
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411G06Rik |
T |
A |
10: 51,633,078 (GRCm39) |
|
noncoding transcript |
Het |
Adm |
C |
T |
7: 110,227,832 (GRCm39) |
L67F |
probably benign |
Het |
Bcl10 |
C |
T |
3: 145,638,939 (GRCm39) |
R194* |
probably null |
Het |
Brat1 |
T |
C |
5: 140,703,811 (GRCm39) |
V688A |
probably benign |
Het |
Cep57 |
T |
A |
9: 13,732,816 (GRCm39) |
|
probably benign |
Het |
Dhx57 |
G |
A |
17: 80,576,279 (GRCm39) |
R604W |
probably damaging |
Het |
Fndc3a |
A |
G |
14: 72,777,842 (GRCm39) |
I1121T |
probably benign |
Het |
Fry |
A |
G |
5: 150,305,086 (GRCm39) |
E597G |
probably damaging |
Het |
Gabra2 |
A |
G |
5: 71,165,418 (GRCm39) |
|
probably benign |
Het |
Golgb1 |
A |
G |
16: 36,738,282 (GRCm39) |
D2207G |
probably damaging |
Het |
Htr4 |
T |
A |
18: 62,570,740 (GRCm39) |
M265K |
probably damaging |
Het |
Igf2r |
C |
T |
17: 12,923,225 (GRCm39) |
V1195M |
probably benign |
Het |
Itga2 |
C |
A |
13: 114,984,600 (GRCm39) |
|
probably benign |
Het |
Itih3 |
T |
C |
14: 30,637,677 (GRCm39) |
H494R |
probably damaging |
Het |
Itpkb |
C |
A |
1: 180,159,970 (GRCm39) |
T32K |
probably damaging |
Het |
Kif16b |
A |
T |
2: 142,690,325 (GRCm39) |
D252E |
probably damaging |
Het |
Klhl33 |
A |
G |
14: 51,129,187 (GRCm39) |
Y681H |
probably damaging |
Het |
Lats1 |
T |
A |
10: 7,577,470 (GRCm39) |
V198E |
probably benign |
Het |
Me3 |
A |
G |
7: 89,500,951 (GRCm39) |
D554G |
probably benign |
Het |
Mindy4 |
C |
T |
6: 55,237,517 (GRCm39) |
|
probably benign |
Het |
Nipa2 |
G |
A |
7: 55,594,371 (GRCm39) |
|
probably benign |
Het |
Or4c116 |
G |
A |
2: 88,942,535 (GRCm39) |
T107I |
probably benign |
Het |
Or52r1 |
T |
C |
7: 102,536,814 (GRCm39) |
E182G |
probably damaging |
Het |
Or5d14 |
A |
G |
2: 87,880,780 (GRCm39) |
F63L |
probably benign |
Het |
Or8b51 |
A |
T |
9: 38,568,918 (GRCm39) |
F257I |
probably benign |
Het |
Ptgis |
A |
T |
2: 167,050,173 (GRCm39) |
W319R |
probably benign |
Het |
Pygl |
C |
T |
12: 70,237,888 (GRCm39) |
A717T |
probably benign |
Het |
Scn9a |
A |
T |
2: 66,314,777 (GRCm39) |
L1636H |
probably damaging |
Het |
Serpina3j |
A |
G |
12: 104,281,063 (GRCm39) |
T79A |
probably benign |
Het |
Sfxn4 |
A |
G |
19: 60,847,182 (GRCm39) |
|
probably benign |
Het |
Shc2 |
T |
A |
10: 79,463,023 (GRCm39) |
|
probably benign |
Het |
Sim2 |
A |
T |
16: 93,922,037 (GRCm39) |
Y294F |
probably benign |
Het |
Tep1 |
A |
G |
14: 51,100,952 (GRCm39) |
|
probably benign |
Het |
Ubr1 |
A |
G |
2: 120,705,879 (GRCm39) |
L1528P |
probably damaging |
Het |
Usp53 |
A |
G |
3: 122,754,802 (GRCm39) |
|
probably null |
Het |
Vmn2r87 |
G |
T |
10: 130,314,924 (GRCm39) |
L221I |
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 |
|
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 |
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 |
2014-05-07 |