Incidental Mutation 'R5195:Rbbp8'
| ID |
400180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
042771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5195 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
11766333-11876264 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 11855208 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 478
(F478L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000111527
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047322]
[ENSMUST00000115861]
|
| AlphaFold |
Q80YR6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047322
AA Change: F478L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: F478L
| 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: F478L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: F478L
| 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 |
0.0874 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (72/74) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
T |
C |
13: 107,551,053 (GRCm39) |
|
noncoding transcript |
Het |
| Arhgef40 |
T |
A |
14: 52,227,269 (GRCm39) |
S438T |
possibly damaging |
Het |
| Barhl2 |
A |
G |
5: 106,601,305 (GRCm39) |
L358P |
possibly damaging |
Het |
| Bicra |
G |
A |
7: 15,713,878 (GRCm39) |
P775S |
possibly damaging |
Het |
| Ccdc78 |
T |
A |
17: 26,008,962 (GRCm39) |
|
probably null |
Het |
| Ccnb1-ps |
T |
A |
7: 41,755,522 (GRCm39) |
|
noncoding transcript |
Het |
| Cct6a |
A |
T |
5: 129,871,718 (GRCm39) |
|
noncoding transcript |
Het |
| Cep120 |
T |
A |
18: 53,854,770 (GRCm39) |
H455L |
probably damaging |
Het |
| Cobl |
C |
T |
11: 12,203,565 (GRCm39) |
V964I |
probably benign |
Het |
| Cpt1a |
A |
T |
19: 3,433,800 (GRCm39) |
I761F |
possibly damaging |
Het |
| Crk |
T |
A |
11: 75,570,289 (GRCm39) |
Y14N |
probably damaging |
Het |
| Deup1 |
A |
T |
9: 15,486,487 (GRCm39) |
Y398N |
possibly damaging |
Het |
| Efcab15 |
T |
C |
11: 103,089,794 (GRCm39) |
Y381C |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,366,510 (GRCm39) |
G980D |
possibly damaging |
Het |
| Fanca |
A |
G |
8: 124,030,684 (GRCm39) |
|
probably benign |
Het |
| Gbp4 |
T |
A |
5: 105,267,398 (GRCm39) |
D507V |
probably benign |
Het |
| Gtf2i |
A |
T |
5: 134,273,686 (GRCm39) |
L740* |
probably null |
Het |
| Hmgn2 |
C |
A |
4: 133,694,597 (GRCm39) |
A8S |
probably benign |
Het |
| Hook2 |
A |
T |
8: 85,721,405 (GRCm39) |
N252I |
probably damaging |
Het |
| Igkv19-93 |
T |
A |
6: 68,713,510 (GRCm39) |
T39S |
probably damaging |
Het |
| Inpp5j |
A |
C |
11: 3,449,889 (GRCm39) |
|
probably null |
Het |
| Insyn2a |
A |
T |
7: 134,486,145 (GRCm39) |
F469I |
probably damaging |
Het |
| Kbtbd3 |
G |
C |
9: 4,316,905 (GRCm39) |
E19Q |
possibly damaging |
Het |
| Kcns2 |
G |
A |
15: 34,839,677 (GRCm39) |
A347T |
possibly damaging |
Het |
| Klhl31 |
A |
G |
9: 77,557,572 (GRCm39) |
E96G |
possibly damaging |
Het |
| Kptn |
A |
G |
7: 15,857,028 (GRCm39) |
Y172C |
probably damaging |
Het |
| Krt86 |
T |
A |
15: 101,374,814 (GRCm39) |
M328K |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,071,795 (GRCm39) |
D894G |
probably benign |
Het |
| Lars2 |
T |
C |
9: 123,282,375 (GRCm39) |
V653A |
probably damaging |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lhcgr |
A |
T |
17: 89,050,374 (GRCm39) |
V384D |
probably damaging |
Het |
| Malrd1 |
C |
T |
2: 16,155,621 (GRCm39) |
T2010M |
unknown |
Het |
| Maml2 |
T |
A |
9: 13,532,410 (GRCm39) |
N541K |
probably damaging |
Het |
| Med24 |
T |
C |
11: 98,601,107 (GRCm39) |
K585R |
possibly damaging |
Het |
| Muc20 |
G |
A |
16: 32,614,846 (GRCm39) |
S177L |
unknown |
Het |
| Mylk |
T |
A |
16: 34,799,585 (GRCm39) |
F1658L |
probably damaging |
Het |
| Obscn |
C |
T |
11: 58,951,676 (GRCm39) |
V4392I |
possibly damaging |
Het |
| Or10d5 |
A |
G |
9: 39,861,975 (GRCm39) |
S31P |
probably benign |
Het |
| Or11g2 |
T |
C |
14: 50,856,243 (GRCm39) |
L188P |
probably damaging |
Het |
| Pcnx2 |
A |
T |
8: 126,528,288 (GRCm39) |
F1311I |
possibly damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,974 (GRCm39) |
L521P |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,115,629 (GRCm39) |
T445A |
possibly damaging |
Het |
| Pgam5 |
A |
T |
5: 110,413,854 (GRCm39) |
L103* |
probably null |
Het |
| Pkd2 |
G |
A |
5: 104,634,547 (GRCm39) |
R526Q |
probably benign |
Het |
| Polr2a |
T |
C |
11: 69,634,905 (GRCm39) |
Y618C |
probably damaging |
Het |
| Pramel16 |
T |
A |
4: 143,677,450 (GRCm39) |
E43V |
probably damaging |
Het |
| Pramel5 |
T |
A |
4: 143,998,311 (GRCm39) |
M311L |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryk |
T |
C |
9: 102,744,812 (GRCm39) |
V122A |
probably benign |
Het |
| Sik3 |
G |
T |
9: 46,120,142 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
| Slc35e4 |
T |
A |
11: 3,862,872 (GRCm39) |
I106F |
possibly damaging |
Het |
| Slc41a3 |
T |
C |
6: 90,610,653 (GRCm39) |
S172P |
probably damaging |
Het |
| Snrnp70 |
T |
A |
7: 45,044,134 (GRCm39) |
K32N |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,008,704 (GRCm39) |
Y1945H |
probably benign |
Het |
| St7 |
A |
G |
6: 17,743,636 (GRCm39) |
|
probably benign |
Het |
| Stab1 |
C |
A |
14: 30,862,478 (GRCm39) |
|
probably benign |
Het |
| Taf13 |
G |
A |
3: 108,488,390 (GRCm39) |
R91Q |
probably damaging |
Het |
| Tmem200a |
T |
C |
10: 25,954,854 (GRCm39) |
|
probably benign |
Het |
| Tnc |
A |
T |
4: 63,885,489 (GRCm39) |
L1871Q |
probably damaging |
Het |
| Toe1 |
T |
C |
4: 116,661,852 (GRCm39) |
H439R |
probably damaging |
Het |
| Trpm1 |
T |
C |
7: 63,887,441 (GRCm39) |
V893A |
possibly damaging |
Het |
| Ubr3 |
G |
A |
2: 69,786,378 (GRCm39) |
A831T |
probably benign |
Het |
| Wdr89 |
C |
T |
12: 75,680,062 (GRCm39) |
R64Q |
probably benign |
Het |
| Zbed5 |
G |
T |
5: 129,931,019 (GRCm39) |
V323F |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,891,647 (GRCm39) |
R287G |
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 |
|
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'- AGATGAACAGTGCAGTGCTGAC -3'
(R):5'- AGAGTCTTTGGCTGGCATGC -3'
Sequencing Primer
(F):5'- GCTGACCACATGAATACTACTGTTGC -3'
(R):5'- CCACTCAAGGCTTTACGGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation