Incidental Mutation 'R8300:Rbbp8'
| ID |
656553 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
067788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8300 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
synonymous |
| DNA Base Change (assembly) |
T to A
at 11838833 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 |
silent
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 |
silent
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 |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AB124611 |
A |
G |
9: 21,437,561 (GRCm39) |
M1V |
probably null |
Het |
| Abca12 |
T |
A |
1: 71,353,123 (GRCm39) |
N773I |
possibly damaging |
Het |
| Adh7 |
A |
G |
3: 137,929,825 (GRCm39) |
E167G |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,804,555 (GRCm39) |
D622V |
|
Het |
| Asf1b |
T |
A |
8: 84,695,805 (GRCm39) |
F149I |
possibly damaging |
Het |
| Bach1 |
T |
C |
16: 87,515,996 (GRCm39) |
V179A |
probably benign |
Het |
| C1ra |
C |
T |
6: 124,498,597 (GRCm39) |
A430V |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,575,717 (GRCm39) |
Q1944L |
|
Het |
| Camkk1 |
T |
C |
11: 72,918,266 (GRCm39) |
V158A |
probably benign |
Het |
| Ccdc152 |
T |
C |
15: 3,327,634 (GRCm39) |
T48A |
probably benign |
Het |
| Cd180 |
A |
T |
13: 102,841,301 (GRCm39) |
M116L |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,804,692 (GRCm39) |
G12R |
probably benign |
Het |
| Coq8b |
T |
C |
7: 26,941,671 (GRCm39) |
V252A |
possibly damaging |
Het |
| Cp |
A |
G |
3: 20,011,385 (GRCm39) |
|
probably benign |
Het |
| Ctsj |
A |
T |
13: 61,150,285 (GRCm39) |
V238E |
probably damaging |
Het |
| Ctsj |
C |
T |
13: 61,150,286 (GRCm39) |
V238I |
probably damaging |
Het |
| Cxcr2 |
A |
T |
1: 74,198,333 (GRCm39) |
M276L |
probably benign |
Het |
| Drd5 |
T |
C |
5: 38,477,672 (GRCm39) |
S222P |
probably damaging |
Het |
| Egflam |
T |
C |
15: 7,283,932 (GRCm39) |
D269G |
possibly damaging |
Het |
| Fbn2 |
C |
T |
18: 58,342,687 (GRCm39) |
R64Q |
probably benign |
Het |
| Fyb2 |
A |
T |
4: 104,857,689 (GRCm39) |
K622M |
probably damaging |
Het |
| Gm10220 |
T |
C |
5: 26,322,818 (GRCm39) |
E198G |
probably damaging |
Het |
| Gm1527 |
A |
T |
3: 28,980,744 (GRCm39) |
N615Y |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,307,140 (GRCm39) |
H308R |
probably damaging |
Het |
| Gsdmc4 |
A |
G |
15: 63,766,790 (GRCm39) |
I261T |
probably damaging |
Het |
| Gsg1 |
T |
G |
6: 135,214,580 (GRCm39) |
T310P |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,926,775 (GRCm39) |
S1075G |
probably null |
Het |
| Hyal6 |
A |
G |
6: 24,734,087 (GRCm39) |
T7A |
probably benign |
Het |
| Ighv1-59 |
T |
G |
12: 115,298,987 (GRCm39) |
Q22H |
probably damaging |
Het |
| Lyst |
T |
A |
13: 13,838,643 (GRCm39) |
M1853K |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,762 (GRCm39) |
I237T |
probably benign |
Het |
| Mccc1 |
A |
T |
3: 36,017,753 (GRCm39) |
M649K |
probably damaging |
Het |
| Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
| Nek4 |
A |
G |
14: 30,692,352 (GRCm39) |
D399G |
|
Het |
| Obscn |
T |
C |
11: 58,933,896 (GRCm39) |
K5323E |
probably benign |
Het |
| Or6p1 |
T |
A |
1: 174,258,100 (GRCm39) |
Y35* |
probably null |
Het |
| Paics |
T |
C |
5: 77,109,253 (GRCm39) |
V196A |
probably damaging |
Het |
| Pced1a |
C |
A |
2: 130,266,157 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
A |
T |
2: 28,352,435 (GRCm39) |
Y109* |
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,928,711 (GRCm39) |
V848A |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,618,118 (GRCm39) |
N92K |
probably damaging |
Het |
| Ppp1r16b |
T |
A |
2: 158,588,571 (GRCm39) |
I152N |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,319,967 (GRCm39) |
M442T |
probably benign |
Het |
| Prex2 |
A |
T |
1: 11,301,942 (GRCm39) |
N1415I |
possibly damaging |
Het |
| Pum3 |
T |
C |
19: 27,399,773 (GRCm39) |
K220R |
probably benign |
Het |
| Qrich2 |
G |
T |
11: 116,347,175 (GRCm39) |
D1216E |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rimbp2 |
C |
T |
5: 128,874,835 (GRCm39) |
R252Q |
probably damaging |
Het |
| Rnpep |
T |
C |
1: 135,211,397 (GRCm39) |
H117R |
probably benign |
Het |
| Serpinb10 |
A |
G |
1: 107,474,456 (GRCm39) |
D206G |
probably benign |
Het |
| Sh3tc1 |
C |
T |
5: 35,854,792 (GRCm39) |
V1302M |
probably benign |
Het |
| Slmap |
T |
C |
14: 26,139,374 (GRCm39) |
E780G |
possibly damaging |
Het |
| Snrpg |
T |
A |
6: 86,353,558 (GRCm39) |
V46E |
probably damaging |
Het |
| Spef1l |
A |
T |
7: 139,557,091 (GRCm39) |
I98N |
probably damaging |
Het |
| Sptbn5 |
T |
A |
2: 119,878,058 (GRCm39) |
Q953L |
noncoding transcript |
Het |
| Stard9 |
C |
T |
2: 120,535,250 (GRCm39) |
L3836F |
possibly damaging |
Het |
| Tcerg1 |
T |
A |
18: 42,683,137 (GRCm39) |
M619K |
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tnfrsf9 |
C |
T |
4: 151,017,556 (GRCm39) |
T137M |
probably damaging |
Het |
| Tpbgl |
G |
T |
7: 99,274,774 (GRCm39) |
A361E |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,289,565 (GRCm39) |
E626* |
probably null |
Het |
| Trio |
G |
T |
15: 27,855,108 (GRCm39) |
H750Q |
possibly damaging |
Het |
| U2af2 |
T |
C |
7: 5,070,414 (GRCm39) |
|
probably benign |
Het |
| Vmn2r3 |
T |
C |
3: 64,182,347 (GRCm39) |
I451V |
probably benign |
Het |
| Zfp930 |
A |
T |
8: 69,680,998 (GRCm39) |
N230I |
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 |
|
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 |
|
|
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'- TTCCCTGAGTTTAGAGCATCAG -3'
(R):5'- GCAGACGTATTCAGATTAACTACTG -3'
Sequencing Primer
(F):5'- TCAGATGCAAGGGATAACATCTC -3'
(R):5'- TTCAGATTAACTACTGTTCATGTCTG -3'
|
| Posted On |
2020-12-17 |
Incidental Mutation