Incidental Mutation 'R9763:Rbbp8'
| ID |
735844 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9763 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 11865261 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 717
(M717L)
|
| 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: M717L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: M717L
| 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: M717L
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: M717L
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.5%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,302,717 (GRCm39) |
D2167E |
possibly damaging |
Het |
| Acadsb |
T |
A |
7: 131,045,327 (GRCm39) |
Y420N |
probably benign |
Het |
| Adcy1 |
T |
A |
11: 7,014,126 (GRCm39) |
L176Q |
probably damaging |
Het |
| Amdhd1 |
T |
A |
10: 93,367,398 (GRCm39) |
K252M |
possibly damaging |
Het |
| Aspa |
C |
A |
11: 73,213,094 (GRCm39) |
E83* |
probably null |
Het |
| Atat1 |
A |
G |
17: 36,220,899 (GRCm39) |
L10P |
probably damaging |
Het |
| Ccdc141 |
T |
A |
2: 76,869,919 (GRCm39) |
N862I |
probably damaging |
Het |
| Cdkal1 |
A |
T |
13: 29,809,692 (GRCm39) |
C217* |
probably null |
Het |
| Cttnbp2 |
C |
T |
6: 18,435,240 (GRCm39) |
S206N |
probably benign |
Het |
| Dner |
A |
T |
1: 84,361,656 (GRCm39) |
I651N |
possibly damaging |
Het |
| Efcab3 |
G |
A |
11: 104,890,485 (GRCm39) |
G4189E |
possibly damaging |
Het |
| Epha8 |
G |
T |
4: 136,665,897 (GRCm39) |
L420M |
probably damaging |
Het |
| Ercc6l2 |
T |
C |
13: 63,982,438 (GRCm39) |
V91A |
probably damaging |
Het |
| Gask1a |
A |
G |
9: 121,805,421 (GRCm39) |
D404G |
probably damaging |
Het |
| Gm13941 |
A |
G |
2: 110,931,518 (GRCm39) |
L38S |
unknown |
Het |
| Golph3l |
G |
A |
3: 95,517,085 (GRCm39) |
E198K |
possibly damaging |
Het |
| Hecw2 |
A |
C |
1: 53,963,074 (GRCm39) |
D812E |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,587,835 (GRCm39) |
E212V |
possibly damaging |
Het |
| Il6st |
C |
T |
13: 112,627,051 (GRCm39) |
S281F |
probably damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Krt71 |
T |
G |
15: 101,646,757 (GRCm39) |
K317T |
probably damaging |
Het |
| Lgi4 |
T |
C |
7: 30,760,020 (GRCm39) |
F72S |
probably damaging |
Het |
| Map3k1 |
C |
T |
13: 111,912,499 (GRCm39) |
R174H |
probably damaging |
Het |
| Marveld3 |
T |
A |
8: 110,688,375 (GRCm39) |
H122L |
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,174 (GRCm39) |
S184P |
probably benign |
Het |
| Mylk |
G |
T |
16: 34,699,482 (GRCm39) |
G282* |
probably null |
Het |
| Myo16 |
T |
A |
8: 10,450,528 (GRCm39) |
M510K |
unknown |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Or10a3 |
T |
A |
7: 108,480,874 (GRCm39) |
|
probably benign |
Het |
| Or10a3n |
T |
G |
7: 108,493,210 (GRCm39) |
I140L |
probably benign |
Het |
| Or3a1d |
T |
C |
11: 74,238,041 (GRCm39) |
Y3C |
probably damaging |
Het |
| Or4e5 |
T |
G |
14: 52,728,307 (GRCm39) |
Y38S |
probably damaging |
Het |
| Or8j3 |
A |
T |
2: 86,028,181 (GRCm39) |
M305K |
probably benign |
Het |
| Or9g20 |
T |
G |
2: 85,630,060 (GRCm39) |
N185H |
possibly damaging |
Het |
| Pdzrn4 |
T |
C |
15: 92,668,376 (GRCm39) |
Y843H |
probably damaging |
Het |
| Prkca |
A |
G |
11: 107,903,867 (GRCm39) |
V242A |
possibly damaging |
Het |
| Rnf150 |
T |
C |
8: 83,732,968 (GRCm39) |
S272P |
probably benign |
Het |
| Rtraf |
A |
G |
14: 19,866,314 (GRCm39) |
V134A |
probably damaging |
Het |
| Rubcnl |
T |
A |
14: 75,287,108 (GRCm39) |
L592* |
probably null |
Het |
| Slc23a1 |
A |
G |
18: 35,755,364 (GRCm39) |
S484P |
probably damaging |
Het |
| Slmap |
A |
G |
14: 26,204,118 (GRCm39) |
Y68H |
probably damaging |
Het |
| Speer4b |
C |
A |
5: 27,705,206 (GRCm39) |
V56L |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,306,232 (GRCm39) |
S84T |
|
Het |
| Syne1 |
T |
C |
10: 5,007,858 (GRCm39) |
D122G |
probably benign |
Het |
| Timd2 |
G |
T |
11: 46,573,540 (GRCm39) |
P155T |
probably benign |
Het |
| Topbp1 |
G |
A |
9: 103,223,923 (GRCm39) |
R1401Q |
probably benign |
Het |
| Trim36 |
C |
A |
18: 46,309,125 (GRCm39) |
D312Y |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,818,860 (GRCm39) |
T1094A |
probably benign |
Het |
| Vwa8 |
T |
A |
14: 79,186,988 (GRCm39) |
Y465N |
probably damaging |
Het |
| Zfpm1 |
T |
C |
8: 123,062,531 (GRCm39) |
L530P |
probably damaging |
Het |
| Zmynd10 |
A |
T |
9: 107,425,965 (GRCm39) |
T100S |
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 |
|
|
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 |
|
Z1176:Rbbp8
|
UTSW |
18 |
11,865,319 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGCACTTCAGCACTCTTG -3'
(R):5'- AGGCACATATGTGGTGTACAG -3'
Sequencing Primer
(F):5'- GCACTTCAGCACTCTTGAAGGTATAG -3'
(R):5'- TGTACAGACACATACACACAGG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation