Incidental Mutation 'R8314:Rbbp8'
| ID |
641603 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
067719-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8314 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 11853682 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 296
(M296I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047322]
[ENSMUST00000115861]
|
| AlphaFold |
Q80YR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047322
AA Change: M296I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: M296I
| 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: M296I
PolyPhen 2
Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: M296I
| 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: 98.9%
|
| Validation Efficiency |
100% (67/67) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
A |
9: 122,777,993 (GRCm39) |
T84S |
probably benign |
Het |
| 4930533K18Rik |
A |
G |
10: 70,711,106 (GRCm39) |
T76A |
noncoding transcript |
Het |
| Adgrl1 |
C |
T |
8: 84,665,018 (GRCm39) |
T1235I |
probably damaging |
Het |
| Ak4 |
C |
T |
4: 101,320,782 (GRCm39) |
T197M |
possibly damaging |
Het |
| Alkal2 |
G |
T |
12: 30,934,850 (GRCm39) |
G23V |
probably damaging |
Het |
| Alox12e |
T |
C |
11: 70,206,998 (GRCm39) |
M603V |
possibly damaging |
Het |
| Ap3d1 |
A |
T |
10: 80,559,373 (GRCm39) |
I267N |
possibly damaging |
Het |
| Arhgef2 |
T |
A |
3: 88,528,600 (GRCm39) |
I12N |
probably benign |
Het |
| Asnsd1 |
A |
T |
1: 53,385,814 (GRCm39) |
M520K |
probably damaging |
Het |
| B3galt5 |
T |
C |
16: 96,116,649 (GRCm39) |
L94P |
probably damaging |
Het |
| Birc2 |
T |
C |
9: 7,872,942 (GRCm39) |
|
probably benign |
Het |
| Cd177 |
T |
C |
7: 24,450,013 (GRCm39) |
S541G |
probably benign |
Het |
| Cdh8 |
T |
C |
8: 99,898,011 (GRCm39) |
D434G |
probably damaging |
Het |
| Cdkn3 |
A |
T |
14: 47,007,330 (GRCm39) |
|
silent |
Het |
| Ciita |
A |
T |
16: 10,328,852 (GRCm39) |
R379W |
probably damaging |
Het |
| Cntrl |
T |
A |
2: 35,065,155 (GRCm39) |
M2153K |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,208,258 (GRCm39) |
D1232E |
probably benign |
Het |
| Cyp4a30b |
A |
C |
4: 115,315,535 (GRCm39) |
H252P |
probably benign |
Het |
| Dad1 |
G |
A |
14: 54,491,269 (GRCm39) |
R11W |
probably damaging |
Het |
| Ddit3 |
A |
G |
10: 127,131,590 (GRCm39) |
|
probably null |
Het |
| Dusp22 |
G |
A |
13: 30,892,914 (GRCm39) |
|
probably benign |
Het |
| Dzank1 |
A |
G |
2: 144,344,878 (GRCm39) |
L293P |
probably damaging |
Het |
| Edf1 |
A |
G |
2: 25,447,977 (GRCm39) |
D5G |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,095,453 (GRCm39) |
|
probably null |
Het |
| Ep400 |
T |
A |
5: 110,903,619 (GRCm39) |
M327L |
unknown |
Het |
| Fam135a |
A |
T |
1: 24,061,002 (GRCm39) |
H1341Q |
possibly damaging |
Het |
| Fbxl3 |
C |
T |
14: 103,326,876 (GRCm39) |
V169I |
probably benign |
Het |
| Gm4787 |
A |
G |
12: 81,425,909 (GRCm39) |
L83P |
probably damaging |
Het |
| Habp4 |
A |
G |
13: 64,332,565 (GRCm39) |
E392G |
probably damaging |
Het |
| Hspg2 |
C |
A |
4: 137,266,986 (GRCm39) |
P1997Q |
probably benign |
Het |
| Ints9 |
T |
C |
14: 65,266,479 (GRCm39) |
S444P |
probably damaging |
Het |
| Kif18b |
G |
A |
11: 102,803,900 (GRCm39) |
S420L |
probably benign |
Het |
| Klhl17 |
T |
A |
4: 156,318,470 (GRCm39) |
M51L |
probably benign |
Het |
| Kmt2b |
C |
T |
7: 30,278,347 (GRCm39) |
E1555K |
probably damaging |
Het |
| Malrd1 |
T |
A |
2: 15,757,643 (GRCm39) |
D972E |
unknown |
Het |
| Mapk8ip3 |
A |
T |
17: 25,120,748 (GRCm39) |
S805R |
probably benign |
Het |
| Mmp13 |
G |
A |
9: 7,272,931 (GRCm39) |
C97Y |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,128,438 (GRCm39) |
N163K |
possibly damaging |
Het |
| Nbea |
T |
C |
3: 55,916,672 (GRCm39) |
I863V |
probably damaging |
Het |
| Nectin4 |
A |
G |
1: 171,212,295 (GRCm39) |
T298A |
probably benign |
Het |
| Net1 |
T |
C |
13: 3,962,672 (GRCm39) |
|
probably benign |
Het |
| Ntn1 |
T |
C |
11: 68,276,450 (GRCm39) |
D166G |
probably damaging |
Het |
| Opa3 |
C |
A |
7: 18,978,940 (GRCm39) |
A135E |
possibly damaging |
Het |
| Or1e31 |
T |
G |
11: 73,690,568 (GRCm39) |
N5T |
noncoding transcript |
Het |
| Or4c3d |
T |
C |
2: 89,882,441 (GRCm39) |
T76A |
probably benign |
Het |
| Or51v14 |
T |
C |
7: 103,261,254 (GRCm39) |
Q102R |
probably damaging |
Het |
| Or5w14 |
A |
G |
2: 87,541,546 (GRCm39) |
F235L |
probably benign |
Het |
| Or8g30 |
A |
G |
9: 39,230,601 (GRCm39) |
F103S |
probably damaging |
Het |
| Osbpl5 |
T |
C |
7: 143,248,833 (GRCm39) |
I608V |
probably benign |
Het |
| Phc1 |
A |
C |
6: 122,297,937 (GRCm39) |
S782R |
unknown |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pip5k1b |
T |
A |
19: 24,332,563 (GRCm39) |
T374S |
probably benign |
Het |
| Prkaa1 |
A |
G |
15: 5,208,354 (GRCm39) |
S541G |
probably damaging |
Het |
| Ptpn20 |
A |
G |
14: 33,344,504 (GRCm39) |
N143D |
possibly damaging |
Het |
| Rabep1 |
A |
G |
11: 70,784,486 (GRCm39) |
D207G |
possibly damaging |
Het |
| Recql4 |
C |
A |
15: 76,594,380 (GRCm39) |
R46L |
probably damaging |
Het |
| Scgb2b18 |
T |
C |
7: 32,872,582 (GRCm39) |
I74M |
probably benign |
Het |
| Shc4 |
A |
G |
2: 125,497,536 (GRCm39) |
I391T |
possibly damaging |
Het |
| Slc38a4 |
A |
G |
15: 96,908,190 (GRCm39) |
F184L |
probably benign |
Het |
| Slc7a6 |
A |
G |
8: 106,895,590 (GRCm39) |
|
probably benign |
Het |
| Smim13 |
G |
T |
13: 41,426,110 (GRCm39) |
G49* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
| Tnpo1 |
T |
C |
13: 99,021,133 (GRCm39) |
N82S |
possibly damaging |
Het |
| Tpp2 |
G |
A |
1: 43,973,387 (GRCm39) |
V47I |
probably benign |
Het |
| Umodl1 |
G |
T |
17: 31,203,806 (GRCm39) |
A540S |
probably damaging |
Het |
| Vmn2r83 |
G |
A |
10: 79,317,313 (GRCm39) |
V519I |
possibly damaging |
Het |
| Zfp641 |
T |
C |
15: 98,188,464 (GRCm39) |
I139V |
probably damaging |
Het |
| Zfyve21 |
A |
T |
12: 111,789,715 (GRCm39) |
I60F |
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 |
|
|
R8300:Rbbp8
|
UTSW |
18 |
11,838,833 (GRCm39) |
synonymous |
silent |
|
|
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'- CTTGTATGCAGTCTTGAGAATTTCC -3'
(R):5'- CTGGGAGCTCTTAATGCTGC -3'
Sequencing Primer
(F):5'- CTAGTCACTTCAAAGTCTGCAATAC -3'
(R):5'- CTCTTAATGCTGCTTGATGATACAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation