Incidental Mutation 'R6593:Rbbp4'
| ID |
523466 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp4
|
| Ensembl Gene |
ENSMUSG00000057236 |
| Gene Name |
retinoblastoma binding protein 4, chromatin remodeling factor |
| Synonyms |
CAF-1 p48 subunit, RBAP48 |
| MMRRC Submission |
044717-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6593 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
129200893-129229163 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129216168 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Serine
at position 193
(L193S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099658
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102598]
|
| AlphaFold |
Q60972 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000102598
AA Change: L193S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099658
Gene: ENSMUSG00000057236
AA Change: L193S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CAF1C_H4-bd
|
19 |
88 |
1.3e-28 |
PFAM |
|
WD40
|
112 |
153 |
8.25e0 |
SMART |
|
WD40
|
166 |
206 |
2.07e-6 |
SMART |
|
WD40
|
216 |
256 |
4.48e-2 |
SMART |
|
WD40
|
262 |
302 |
5.81e-10 |
SMART |
|
WD40
|
306 |
346 |
3.93e-7 |
SMART |
|
WD40
|
363 |
403 |
1.08e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140291
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181237
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.2%
- 10x: 96.6%
- 20x: 89.6%
|
| Validation Efficiency |
100% (37/37) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a ubiquitously expressed nuclear protein which belongs to a highly conserved subfamily of WD-repeat proteins. It is present in protein complexes involved in histone acetylation and chromatin assembly. It is part of the Mi-2 complex which has been implicated in chromatin remodeling and transcriptional repression associated with histone deacetylation. This encoded protein is also part of co-repressor complexes, which is an integral component of transcriptional silencing. It is found among several cellular proteins that bind directly to retinoblastoma protein to regulate cell proliferation. This protein also seems to be involved in transcriptional repression of E2F-responsive genes. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
C |
A |
5: 8,903,491 (GRCm39) |
N1047K |
probably benign |
Het |
| AI597479 |
C |
A |
1: 43,150,408 (GRCm39) |
Q173K |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,522 (GRCm39) |
L282P |
probably damaging |
Het |
| Arhgef10 |
T |
C |
8: 15,012,564 (GRCm39) |
I296T |
possibly damaging |
Het |
| Atg2b |
A |
G |
12: 105,611,107 (GRCm39) |
S1275P |
probably damaging |
Het |
| Cep290 |
T |
C |
10: 100,344,638 (GRCm39) |
M485T |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,514,338 (GRCm39) |
|
probably null |
Het |
| Clcn6 |
C |
T |
4: 148,095,226 (GRCm39) |
S731N |
probably benign |
Het |
| Clic6 |
A |
G |
16: 92,325,005 (GRCm39) |
I388V |
possibly damaging |
Het |
| Cpsf4l |
G |
T |
11: 113,600,192 (GRCm39) |
|
probably benign |
Het |
| Dlg5 |
G |
A |
14: 24,200,720 (GRCm39) |
H1350Y |
probably benign |
Het |
| Dnase2b |
T |
C |
3: 146,292,666 (GRCm39) |
Y169C |
probably damaging |
Het |
| Elavl3 |
C |
T |
9: 21,929,843 (GRCm39) |
V354M |
possibly damaging |
Het |
| Farp2 |
A |
C |
1: 93,497,662 (GRCm39) |
I231L |
possibly damaging |
Het |
| Gcc2 |
T |
A |
10: 58,107,329 (GRCm39) |
M755K |
probably damaging |
Het |
| Gpr88 |
T |
C |
3: 116,046,273 (GRCm39) |
T13A |
unknown |
Het |
| Gstm3 |
T |
A |
3: 107,875,511 (GRCm39) |
N40Y |
probably benign |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,697 (GRCm39) |
C328S |
unknown |
Het |
| Lpar1 |
A |
T |
4: 58,486,605 (GRCm39) |
V222E |
probably damaging |
Het |
| Neto2 |
A |
G |
8: 86,396,175 (GRCm39) |
S192P |
probably damaging |
Het |
| Odad1 |
T |
A |
7: 45,596,808 (GRCm39) |
D378E |
probably damaging |
Het |
| Or52n3 |
C |
T |
7: 104,530,640 (GRCm39) |
T242I |
probably damaging |
Het |
| Pcdhgb1 |
G |
T |
18: 37,815,134 (GRCm39) |
D542Y |
probably damaging |
Het |
| Phldb2 |
G |
A |
16: 45,645,790 (GRCm39) |
Q264* |
probably null |
Het |
| Ptgs2 |
G |
A |
1: 149,976,784 (GRCm39) |
D6N |
possibly damaging |
Het |
| Rasef |
G |
T |
4: 73,663,327 (GRCm39) |
H167N |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,226,651 (GRCm39) |
I169V |
probably benign |
Het |
| Sec24d |
T |
C |
3: 123,147,061 (GRCm39) |
F673S |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,063,219 (GRCm39) |
M1T |
probably null |
Het |
| Stra6 |
A |
G |
9: 58,059,262 (GRCm39) |
T542A |
probably benign |
Het |
| Stt3b |
T |
C |
9: 115,081,579 (GRCm39) |
Y569C |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,455,417 (GRCm39) |
K626R |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,210 (GRCm39) |
I1227N |
probably damaging |
Het |
| Xpo7 |
G |
A |
14: 70,919,802 (GRCm39) |
A671V |
probably damaging |
Het |
| Zfp799 |
A |
G |
17: 33,038,764 (GRCm39) |
Y501H |
probably damaging |
Het |
|
| Other mutations in Rbbp4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00494:Rbbp4
|
APN |
4 |
129,203,946 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01150:Rbbp4
|
APN |
4 |
129,216,668 (GRCm39) |
splice site |
probably benign |
|
|
IGL02228:Rbbp4
|
APN |
4 |
129,211,543 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0864:Rbbp4
|
UTSW |
4 |
129,214,344 (GRCm39) |
splice site |
probably benign |
|
|
R1056:Rbbp4
|
UTSW |
4 |
129,211,442 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3717:Rbbp4
|
UTSW |
4 |
129,222,425 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3762:Rbbp4
|
UTSW |
4 |
129,228,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6148:Rbbp4
|
UTSW |
4 |
129,215,751 (GRCm39) |
missense |
probably benign |
|
|
R6676:Rbbp4
|
UTSW |
4 |
129,222,414 (GRCm39) |
missense |
probably benign |
|
|
R7741:Rbbp4
|
UTSW |
4 |
129,228,356 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8045:Rbbp4
|
UTSW |
4 |
129,211,693 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9010:Rbbp4
|
UTSW |
4 |
129,216,180 (GRCm39) |
missense |
probably benign |
|
|
R9352:Rbbp4
|
UTSW |
4 |
129,211,498 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9629:Rbbp4
|
UTSW |
4 |
129,212,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTTGGAACTGCACTGATGTCC -3'
(R):5'- ATCGTGATTGCTCAGCTTTAGC -3'
Sequencing Primer
(F):5'- TCCCACAGGCAGATGGTCTTAAATG -3'
(R):5'- AGCGTTATATATCTGGTAAAGGGTC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation