Incidental Mutation 'R8292:Rbbp8'
| ID |
638770 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp8
|
| Ensembl Gene |
ENSMUSG00000041238 |
| Gene Name |
retinoblastoma binding protein 8, endonuclease |
| Synonyms |
CtIP, 9930104E21Rik |
| MMRRC Submission |
067782-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8292 (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 11838769 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 150
(V150A)
|
| 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: V150A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000046255
Gene: ENSMUSG00000041238
AA Change: V150A
| 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: V150A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000111527
Gene: ENSMUSG00000041238
AA Change: V150A
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
T |
5: 114,338,555 (GRCm39) |
|
probably null |
Het |
| Akirin2 |
T |
C |
4: 34,566,007 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
A |
G |
13: 4,130,995 (GRCm39) |
D229G |
possibly damaging |
Het |
| Arfgef1 |
T |
C |
1: 10,227,194 (GRCm39) |
I1382V |
probably benign |
Het |
| Bcas3 |
C |
A |
11: 85,348,729 (GRCm39) |
A207D |
probably damaging |
Het |
| Bcl2l10 |
T |
C |
9: 75,255,160 (GRCm39) |
|
probably benign |
Het |
| Cdc42 |
T |
C |
4: 137,063,384 (GRCm39) |
T3A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,791,819 (GRCm39) |
W2594L |
possibly damaging |
Het |
| Chrna6 |
A |
T |
8: 27,896,754 (GRCm39) |
H374Q |
probably benign |
Het |
| Cibar1 |
T |
G |
4: 12,153,963 (GRCm39) |
T330P |
possibly damaging |
Het |
| Clcnka |
G |
A |
4: 141,125,272 (GRCm39) |
R30* |
probably null |
Het |
| Clptm1l |
A |
T |
13: 73,765,854 (GRCm39) |
H464L |
probably damaging |
Het |
| Col6a4 |
A |
T |
9: 105,954,076 (GRCm39) |
M421K |
probably benign |
Het |
| Crybg2 |
T |
C |
4: 133,802,842 (GRCm39) |
S873P |
probably damaging |
Het |
| Dixdc1 |
A |
G |
9: 50,621,989 (GRCm39) |
V114A |
probably benign |
Het |
| Etv6 |
T |
C |
6: 134,225,509 (GRCm39) |
C247R |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,456,350 (GRCm39) |
L11S |
probably damaging |
Het |
| Gbp2 |
G |
A |
3: 142,329,584 (GRCm39) |
V44M |
probably damaging |
Het |
| Get4 |
A |
G |
5: 139,248,686 (GRCm39) |
D99G |
probably null |
Het |
| Glcci1 |
G |
A |
6: 8,558,549 (GRCm39) |
R212H |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,501,351 (GRCm39) |
F280L |
probably damaging |
Het |
| Gm5407 |
T |
A |
16: 49,117,550 (GRCm39) |
N70Y |
noncoding transcript |
Het |
| Hace1 |
C |
G |
10: 45,587,557 (GRCm39) |
Y885* |
probably null |
Het |
| Hectd4 |
G |
A |
5: 121,455,288 (GRCm39) |
R644Q |
possibly damaging |
Het |
| Impg2 |
A |
T |
16: 56,080,989 (GRCm39) |
E931V |
probably damaging |
Het |
| Kif5c |
A |
T |
2: 49,625,497 (GRCm39) |
Y589F |
probably benign |
Het |
| Krr1 |
T |
A |
10: 111,813,021 (GRCm39) |
V132E |
possibly damaging |
Het |
| Luzp1 |
T |
G |
4: 136,269,764 (GRCm39) |
D662E |
probably benign |
Het |
| Mc4r |
A |
T |
18: 66,993,082 (GRCm39) |
Y10* |
probably null |
Het |
| Mfng |
T |
C |
15: 78,657,370 (GRCm39) |
I35V |
probably benign |
Het |
| Mprip |
T |
A |
11: 59,650,340 (GRCm39) |
I1348K |
probably benign |
Het |
| Mrgprb3 |
G |
T |
7: 48,293,255 (GRCm39) |
Q99K |
probably benign |
Het |
| Mrgprb4 |
A |
T |
7: 47,848,554 (GRCm39) |
S125T |
probably damaging |
Het |
| Mrgprg |
A |
T |
7: 143,318,656 (GRCm39) |
M152K |
probably benign |
Het |
| Muc5ac |
A |
C |
7: 141,363,000 (GRCm39) |
I2104L |
unknown |
Het |
| Myom2 |
A |
G |
8: 15,182,888 (GRCm39) |
I1442V |
probably benign |
Het |
| Nell1 |
T |
C |
7: 49,907,995 (GRCm39) |
C385R |
probably damaging |
Het |
| Nid2 |
T |
G |
14: 19,818,346 (GRCm39) |
V280G |
probably damaging |
Het |
| Npr2 |
T |
A |
4: 43,643,086 (GRCm39) |
M490K |
possibly damaging |
Het |
| Prr12 |
A |
G |
7: 44,684,112 (GRCm39) |
F1643L |
probably damaging |
Het |
| Psg16 |
G |
A |
7: 16,827,701 (GRCm39) |
G128D |
probably damaging |
Het |
| Racgap1 |
A |
T |
15: 99,520,127 (GRCm39) |
L595* |
probably null |
Het |
| Rbbp9 |
T |
C |
2: 144,390,017 (GRCm39) |
T49A |
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,839,930 (GRCm39) |
T973K |
possibly damaging |
Het |
| Robo1 |
A |
T |
16: 72,769,420 (GRCm39) |
I582F |
possibly damaging |
Het |
| Rps6ka5 |
A |
T |
12: 100,644,791 (GRCm39) |
V53D |
possibly damaging |
Het |
| Slc35f6 |
G |
T |
5: 30,813,375 (GRCm39) |
V156L |
probably benign |
Het |
| Smpd3 |
T |
C |
8: 106,991,422 (GRCm39) |
H377R |
probably benign |
Het |
| Son |
G |
A |
16: 91,453,545 (GRCm39) |
S764N |
possibly damaging |
Het |
| Srgn |
A |
T |
10: 62,343,447 (GRCm39) |
V16D |
possibly damaging |
Het |
| Tex14 |
G |
A |
11: 87,388,664 (GRCm39) |
R297Q |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,557,142 (GRCm39) |
V1194A |
probably benign |
Het |
| Tlr6 |
A |
C |
5: 65,111,134 (GRCm39) |
L591R |
probably damaging |
Het |
| Tmem143 |
A |
G |
7: 45,558,964 (GRCm39) |
K302R |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,371,123 (GRCm39) |
Y555C |
probably damaging |
Het |
| Usp32 |
T |
A |
11: 84,968,227 (GRCm39) |
K145N |
probably damaging |
Het |
| Zbtb40 |
T |
C |
4: 136,726,878 (GRCm39) |
Y486C |
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 |
|
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 |
|
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'- AACAGTTGGGGTCAAGAATTCTAC -3'
(R):5'- CAAGTCTGATCCTTACCATTTGTAC -3'
Sequencing Primer
(F):5'- ATTTGCATACATCTCTATTCCCTGAG -3'
(R):5'- CCATTTGTACATAGAGAGCGCTC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation