Incidental Mutation 'R9086:Rbbp8'
| ID |
690636 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
068905-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9086 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11875736 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 883
(V883A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047322]
[ENSMUST00000115861]
|
| AlphaFold |
Q80YR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047322
AA Change: V883A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: V883A
| 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 |
possibly damaging
Transcript: ENSMUST00000115861
AA Change: V883A
PolyPhen 2
Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: V883A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 109,992,879 (GRCm39) |
E1595G |
probably damaging |
Het |
| Ank1 |
T |
C |
8: 23,589,636 (GRCm39) |
V608A |
probably damaging |
Het |
| Arl14epl |
T |
C |
18: 47,065,661 (GRCm39) |
V142A |
possibly damaging |
Het |
| Atp8a1 |
T |
C |
5: 67,932,159 (GRCm39) |
D210G |
|
Het |
| Baz1b |
T |
C |
5: 135,260,538 (GRCm39) |
F1112L |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,206,898 (GRCm39) |
I316F |
probably damaging |
Het |
| Car2 |
A |
C |
3: 14,952,968 (GRCm39) |
T37P |
probably benign |
Het |
| Catsper2 |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
TAGGATGGCTTTTCTCAGGATAGCTTTTCTCAGGATGGCTTTTCTCAGGATAGCTTTTCT |
2: 121,228,053 (GRCm39) |
|
probably benign |
Het |
| Cntnap3 |
T |
A |
13: 64,929,573 (GRCm39) |
D542V |
probably damaging |
Het |
| Coro1b |
T |
C |
19: 4,202,525 (GRCm39) |
Y338H |
probably damaging |
Het |
| Ctdspl2 |
G |
A |
2: 121,838,298 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
T |
C |
7: 26,735,944 (GRCm39) |
F451S |
probably damaging |
Het |
| Dpm2 |
T |
C |
2: 32,462,391 (GRCm39) |
L59P |
probably damaging |
Het |
| Duoxa2 |
A |
G |
2: 122,131,821 (GRCm39) |
Y170C |
probably damaging |
Het |
| Dus2 |
T |
A |
8: 106,742,573 (GRCm39) |
Y34* |
probably null |
Het |
| Dzip3 |
A |
G |
16: 48,781,493 (GRCm39) |
I266T |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,800,994 (GRCm39) |
T455A |
possibly damaging |
Het |
| Echdc2 |
C |
T |
4: 108,027,076 (GRCm39) |
Q74* |
probably null |
Het |
| Efhc1 |
T |
C |
1: 21,025,592 (GRCm39) |
Y33H |
probably damaging |
Het |
| Fam20a |
A |
T |
11: 109,566,754 (GRCm39) |
C378* |
probably null |
Het |
| Fbxo25 |
C |
A |
8: 13,989,621 (GRCm39) |
P356Q |
probably damaging |
Het |
| Fig4 |
G |
T |
10: 41,161,399 (GRCm39) |
T59K |
possibly damaging |
Het |
| Gbp10 |
T |
A |
5: 105,366,369 (GRCm39) |
M512L |
probably benign |
Het |
| Gdf10 |
T |
A |
14: 33,654,221 (GRCm39) |
Y243N |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,458,476 (GRCm39) |
S640T |
probably benign |
Het |
| H1f9 |
A |
T |
11: 94,859,083 (GRCm39) |
K126M |
possibly damaging |
Het |
| Ints1 |
A |
T |
5: 139,743,947 (GRCm39) |
H1540Q |
probably benign |
Het |
| Lipo3 |
A |
T |
19: 33,534,529 (GRCm39) |
L310Q |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,640,051 (GRCm39) |
K1532R |
probably benign |
Het |
| Ltc4s |
T |
C |
11: 50,128,074 (GRCm39) |
Y59C |
probably damaging |
Het |
| Macf1 |
T |
A |
4: 123,377,944 (GRCm39) |
H1427L |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,982,754 (GRCm39) |
|
probably null |
Het |
| Mthfd1l |
A |
T |
10: 3,923,412 (GRCm39) |
D53V |
probably benign |
Het |
| Muc4 |
C |
A |
16: 32,577,842 (GRCm39) |
P303Q |
|
Het |
| Nrxn1 |
A |
G |
17: 90,469,792 (GRCm39) |
F1293S |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,540,108 (GRCm39) |
E803K |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,177,830 (GRCm39) |
D1071G |
possibly damaging |
Het |
| Or1l4b |
T |
A |
2: 37,036,426 (GRCm39) |
D67E |
probably damaging |
Het |
| Or2ag18 |
A |
T |
7: 106,405,126 (GRCm39) |
I181N |
probably benign |
Het |
| Or2ak6 |
T |
A |
11: 58,592,955 (GRCm39) |
S143T |
possibly damaging |
Het |
| Papln |
A |
G |
12: 83,821,633 (GRCm39) |
E287G |
probably damaging |
Het |
| Pex13 |
C |
A |
11: 23,615,760 (GRCm39) |
G29C |
probably damaging |
Het |
| Phrf1 |
C |
A |
7: 140,839,412 (GRCm39) |
T869K |
unknown |
Het |
| Pitrm1 |
A |
G |
13: 6,627,517 (GRCm39) |
T912A |
probably benign |
Het |
| Pla2g4c |
A |
G |
7: 13,071,692 (GRCm39) |
K171E |
probably benign |
Het |
| Pnpla7 |
A |
T |
2: 24,929,709 (GRCm39) |
T833S |
probably damaging |
Het |
| Por |
G |
T |
5: 135,744,918 (GRCm39) |
|
probably null |
Het |
| Rab3ip |
G |
A |
10: 116,775,310 (GRCm39) |
S16L |
probably damaging |
Het |
| Rabgef1 |
A |
T |
5: 130,240,792 (GRCm39) |
I304F |
probably benign |
Het |
| Rnase4 |
A |
G |
14: 51,342,429 (GRCm39) |
D51G |
possibly damaging |
Het |
| Rnf13 |
A |
C |
3: 57,740,997 (GRCm39) |
D291A |
probably benign |
Het |
| Rps6kb2 |
A |
T |
19: 4,209,270 (GRCm39) |
I191N |
probably damaging |
Het |
| Scn1a |
A |
G |
2: 66,181,358 (GRCm39) |
L55S |
probably benign |
Het |
| Son |
T |
A |
16: 91,467,418 (GRCm39) |
F2260I |
unknown |
Het |
| Spata31h1 |
C |
T |
10: 82,124,577 (GRCm39) |
S2811N |
probably benign |
Het |
| Ssr1 |
A |
G |
13: 38,167,449 (GRCm39) |
I238T |
probably benign |
Het |
| Stk11ip |
A |
G |
1: 75,506,818 (GRCm39) |
E633G |
possibly damaging |
Het |
| Svs3a |
A |
G |
2: 164,132,062 (GRCm39) |
Y211C |
probably benign |
Het |
| Sytl1 |
T |
A |
4: 132,988,175 (GRCm39) |
E60D |
possibly damaging |
Het |
| Tlcd5 |
C |
T |
9: 43,022,664 (GRCm39) |
R230Q |
probably benign |
Het |
| Tlr1 |
T |
C |
5: 65,083,198 (GRCm39) |
I460V |
probably damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,718 (GRCm39) |
I256T |
probably damaging |
Het |
| Ttll5 |
G |
A |
12: 85,964,516 (GRCm39) |
A553T |
possibly damaging |
Het |
| Ttll5 |
A |
T |
12: 86,071,107 (GRCm39) |
T1327S |
probably benign |
Het |
| Upp2 |
T |
A |
2: 58,680,177 (GRCm39) |
C334* |
probably null |
Het |
| Wdr74 |
C |
A |
19: 8,713,358 (GRCm39) |
N24K |
possibly damaging |
Het |
| Zbtb42 |
G |
A |
12: 112,645,848 (GRCm39) |
V8I |
probably benign |
Het |
| Zfp541 |
T |
A |
7: 15,824,329 (GRCm39) |
L1078Q |
probably damaging |
Het |
| Zfr2 |
T |
C |
10: 81,076,029 (GRCm39) |
V212A |
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 |
|
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 |
|
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'- TGCTGAAAGAAATGCTGTTGG -3'
(R):5'- CCCTACTGCTTAAAGGTACAAAAG -3'
Sequencing Primer
(F):5'- AAGGTGGTGTCTCATGCCCAG -3'
(R):5'- GGTTGGTATATGCCATTTAAAACAC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation