Incidental Mutation 'R0167:Rbbp8'
| ID |
50133 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
038443-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0167 (G1)
|
| Quality Score |
154 |
|
Status
|
Validated
(trace)
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 11793979 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 30
(Y30*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047322]
[ENSMUST00000115861]
|
| AlphaFold |
Q80YR6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000047322
AA Change: Y30*
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: Y30*
| 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 null
Transcript: ENSMUST00000115861
AA Change: Y30*
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: Y30*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
95% (58/61) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
C |
9: 107,806,969 (GRCm39) |
F431L |
probably damaging |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
C |
T |
17: 28,099,176 (GRCm39) |
T246M |
possibly damaging |
Het |
| Bsn |
T |
C |
9: 108,003,185 (GRCm39) |
T407A |
probably benign |
Het |
| Ccdc96 |
T |
C |
5: 36,642,497 (GRCm39) |
F168L |
probably benign |
Het |
| Cckar |
A |
T |
5: 53,863,795 (GRCm39) |
S55R |
probably damaging |
Het |
| Cdh5 |
A |
C |
8: 104,863,367 (GRCm39) |
I426L |
possibly damaging |
Het |
| Clcn1 |
T |
C |
6: 42,263,770 (GRCm39) |
Y24H |
probably damaging |
Het |
| Clpx |
G |
A |
9: 65,224,019 (GRCm39) |
R271K |
possibly damaging |
Het |
| Col6a3 |
C |
T |
1: 90,725,895 (GRCm39) |
G1978D |
probably damaging |
Het |
| Cpne2 |
T |
C |
8: 95,295,207 (GRCm39) |
|
probably benign |
Het |
| D630023F18Rik |
A |
G |
1: 65,156,340 (GRCm39) |
V51A |
possibly damaging |
Het |
| Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
| Dlk2 |
C |
A |
17: 46,613,530 (GRCm39) |
R262S |
possibly damaging |
Het |
| Dubr |
G |
T |
16: 50,553,007 (GRCm39) |
|
noncoding transcript |
Het |
| Elane |
T |
A |
10: 79,722,933 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
G |
2: 165,558,032 (GRCm39) |
S209R |
possibly damaging |
Het |
| Fam171a1 |
C |
T |
2: 3,187,469 (GRCm39) |
S112L |
probably damaging |
Het |
| Fsip2 |
T |
A |
2: 82,811,151 (GRCm39) |
M2490K |
possibly damaging |
Het |
| Galnt14 |
T |
C |
17: 73,829,715 (GRCm39) |
T277A |
probably damaging |
Het |
| Golga1 |
T |
C |
2: 38,937,660 (GRCm39) |
N128S |
probably benign |
Het |
| H1f6 |
T |
C |
13: 23,879,886 (GRCm39) |
V13A |
probably benign |
Het |
| Hdac2 |
T |
C |
10: 36,876,368 (GRCm39) |
V461A |
probably benign |
Het |
| Hey2 |
A |
G |
10: 30,716,661 (GRCm39) |
V34A |
probably benign |
Het |
| Ift22 |
T |
C |
5: 136,940,745 (GRCm39) |
C137R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,256,002 (GRCm39) |
D4657G |
possibly damaging |
Het |
| Lrrn3 |
T |
A |
12: 41,504,014 (GRCm39) |
Q101L |
probably damaging |
Het |
| Med25 |
A |
G |
7: 44,532,521 (GRCm39) |
|
probably null |
Het |
| Mup5 |
T |
A |
4: 61,752,019 (GRCm39) |
|
probably null |
Het |
| Or51aa5 |
A |
T |
7: 103,166,708 (GRCm39) |
Y294* |
probably null |
Het |
| Or5ac23 |
A |
T |
16: 59,149,337 (GRCm39) |
C178* |
probably null |
Het |
| Or9q2 |
T |
C |
19: 13,772,931 (GRCm39) |
T15A |
probably benign |
Het |
| Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
| Parg |
T |
C |
14: 31,939,693 (GRCm39) |
|
probably null |
Het |
| Prep |
A |
G |
10: 45,034,326 (GRCm39) |
|
probably null |
Het |
| Prss1l |
T |
A |
6: 41,373,195 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,385,055 (GRCm39) |
|
probably null |
Het |
| Rhbdd1 |
T |
C |
1: 82,320,505 (GRCm39) |
V163A |
probably benign |
Het |
| Setd2 |
T |
A |
9: 110,402,850 (GRCm39) |
N1830K |
probably damaging |
Het |
| Shc4 |
T |
G |
2: 125,564,933 (GRCm39) |
N122T |
probably benign |
Het |
| Shroom3 |
T |
C |
5: 93,096,254 (GRCm39) |
|
probably benign |
Het |
| Snx14 |
A |
T |
9: 88,289,469 (GRCm39) |
L261Q |
probably damaging |
Het |
| St8sia1 |
A |
G |
6: 142,859,907 (GRCm39) |
|
probably benign |
Het |
| Thbs2 |
A |
T |
17: 14,887,787 (GRCm39) |
|
probably benign |
Het |
| Tpp2 |
T |
C |
1: 44,009,648 (GRCm39) |
V494A |
probably benign |
Het |
| Trdmt1 |
A |
T |
2: 13,520,829 (GRCm39) |
F358I |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,719,867 (GRCm39) |
|
probably benign |
Het |
| Uggt1 |
A |
G |
1: 36,209,278 (GRCm39) |
|
probably null |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
| Zfp804a |
T |
G |
2: 82,086,860 (GRCm39) |
F230V |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCACACCTATGTAAGGACACAAGAAA -3'
(R):5'- GCACCACAGAGCAGAGTTACACAAG -3'
Sequencing Primer
(F):5'- AGGTCAGGGAAACATCAGC -3'
(R):5'- gcaggctcacacacatacac -3'
|
| Posted On |
2013-06-14 |
Incidental Mutation