Incidental Mutation 'R9391:Rbbp8'
| ID |
710615 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9391 (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 11854990 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 405
(I405T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046255
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047322]
[ENSMUST00000115861]
|
| AlphaFold |
Q80YR6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047322
AA Change: I405T
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: I405T
| 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: I405T
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: I405T
| 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: 99.7%
- 20x: 99.1%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,178,542 (GRCm39) |
T1144A |
probably benign |
Het |
| Adam32 |
C |
T |
8: 25,374,472 (GRCm39) |
E507K |
probably damaging |
Het |
| Adgrf3 |
T |
C |
5: 30,400,071 (GRCm39) |
E974G |
possibly damaging |
Het |
| Agbl1 |
A |
G |
7: 76,071,602 (GRCm39) |
E560G |
unknown |
Het |
| Ank2 |
A |
T |
3: 126,731,394 (GRCm39) |
H671Q |
probably damaging |
Het |
| Asic5 |
C |
T |
3: 81,928,366 (GRCm39) |
T485M |
probably benign |
Het |
| Bco2 |
T |
C |
9: 50,446,022 (GRCm39) |
|
probably null |
Het |
| C1qtnf6 |
A |
G |
15: 78,415,516 (GRCm39) |
C23R |
unknown |
Het |
| Ccdc18 |
T |
C |
5: 108,376,770 (GRCm39) |
F1404L |
probably benign |
Het |
| Cfap46 |
A |
T |
7: 139,198,027 (GRCm39) |
I2107N |
unknown |
Het |
| Cfap97d1 |
G |
T |
11: 101,881,655 (GRCm39) |
R117I |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Cpb2 |
A |
C |
14: 75,508,136 (GRCm39) |
Q199P |
probably damaging |
Het |
| Dnah7b |
T |
A |
1: 46,272,914 (GRCm39) |
Y2347* |
probably null |
Het |
| Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
| F2r |
A |
T |
13: 95,740,656 (GRCm39) |
V293D |
probably damaging |
Het |
| Gm28363 |
G |
A |
1: 117,626,629 (GRCm39) |
W22* |
probably null |
Het |
| Hira |
T |
C |
16: 18,767,892 (GRCm39) |
S696P |
possibly damaging |
Het |
| Klhl2 |
A |
G |
8: 65,275,684 (GRCm39) |
V73A |
probably damaging |
Het |
| Lalba |
A |
T |
15: 98,380,417 (GRCm39) |
W46R |
probably damaging |
Het |
| Map3k13 |
C |
A |
16: 21,740,665 (GRCm39) |
T664N |
probably benign |
Het |
| Ncor1 |
T |
A |
11: 62,216,376 (GRCm39) |
K1166* |
probably null |
Het |
| Npdc1 |
T |
A |
2: 25,297,979 (GRCm39) |
M176K |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,408 (GRCm39) |
S3045P |
probably damaging |
Het |
| Or13a20 |
G |
A |
7: 140,232,272 (GRCm39) |
A127T |
probably damaging |
Het |
| Plekhg4 |
G |
C |
8: 106,106,043 (GRCm39) |
K813N |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Prdm12 |
G |
A |
2: 31,544,162 (GRCm39) |
R255H |
probably benign |
Het |
| Sctr |
A |
G |
1: 119,983,178 (GRCm39) |
T328A |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,681,101 (GRCm39) |
S362T |
probably benign |
Het |
| Sgsm2 |
A |
G |
11: 74,744,630 (GRCm39) |
L818P |
probably damaging |
Het |
| Shprh |
G |
A |
10: 11,038,633 (GRCm39) |
V463I |
probably benign |
Het |
| Smyd5 |
T |
C |
6: 85,418,739 (GRCm39) |
F241S |
probably damaging |
Het |
| Tax1bp1 |
T |
A |
6: 52,735,220 (GRCm39) |
Y680* |
probably null |
Het |
| Tbc1d17 |
A |
G |
7: 44,494,683 (GRCm39) |
S212P |
probably damaging |
Het |
| Tle1 |
A |
T |
4: 72,116,159 (GRCm39) |
V62E |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,883,075 (GRCm39) |
N163K |
probably damaging |
Het |
| Trim8 |
T |
A |
19: 46,503,955 (GRCm39) |
Y502* |
probably null |
Het |
| Trip12 |
A |
T |
1: 84,773,473 (GRCm39) |
F54L |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,745,067 (GRCm39) |
L761Q |
probably damaging |
Het |
| Vps41 |
A |
T |
13: 18,994,616 (GRCm39) |
E154D |
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 |
|
|
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'- CTCTACTGTGAAAGCTCATTTGGG -3'
(R):5'- TCCTTATCAAAACAGGCCTGGG -3'
Sequencing Primer
(F):5'- GGGTTTGAATACAAGTTTCTCCC -3'
(R):5'- GGGGCACTTTACTGCATGCTC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation