Incidental Mutation 'R3811:Rbbp5'
| ID |
275180 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbbp5
|
| Ensembl Gene |
ENSMUSG00000026439 |
| Gene Name |
retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit |
| Synonyms |
4933411J24Rik |
| MMRRC Submission |
040767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.960)
|
| Stock # |
R3811 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
132405103-132433397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 132420325 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 59
(V59A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027700]
[ENSMUST00000187505]
[ENSMUST00000188575]
[ENSMUST00000189786]
[ENSMUST00000190825]
[ENSMUST00000190997]
|
| AlphaFold |
Q8BX09 |
| PDB Structure |
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE RECRUITED TO NOVEL SITE [X-RAY DIFFRACTION]
WDR5 IN COMPLEX WITH AN RBBP5 PEPTIDE AND HISTONE H3 PEPTIDE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027700
AA Change: V59A
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: V59A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
52 |
2.31e-1 |
SMART |
|
WD40
|
55 |
94 |
7.33e-7 |
SMART |
|
Blast:WD40
|
97 |
177 |
2e-31 |
BLAST |
|
WD40
|
182 |
226 |
8.29e-1 |
SMART |
|
WD40
|
241 |
280 |
1.28e1 |
SMART |
|
WD40
|
283 |
322 |
2.97e0 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187505
AA Change: V59A
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: V59A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
1 |
52 |
9e-13 |
BLAST |
|
WD40
|
55 |
99 |
5.1e-3 |
SMART |
|
WD40
|
114 |
153 |
7.9e-2 |
SMART |
|
WD40
|
156 |
195 |
1.9e-2 |
SMART |
|
low complexity region
|
217 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000188575
|
| SMART Domains |
Protein: ENSMUSP00000140344
Gene: ENSMUSG00000026439
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:WD40
|
14 |
55 |
9e-9 |
BLAST |
|
SCOP:d1gxra_
|
34 |
87 |
8e-8 |
SMART |
|
Blast:WD40
|
58 |
107 |
8e-16 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189786
|
| SMART Domains |
Protein: ENSMUSP00000140790
Gene: ENSMUSG00000026439
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
1 |
27 |
1.2e0 |
SMART |
|
WD40
|
30 |
69 |
4.6e-9 |
SMART |
|
Blast:WD40
|
72 |
149 |
2e-32 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190825
AA Change: V186A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: V186A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
52 |
1.4e-3 |
SMART |
|
WD40
|
55 |
94 |
4.6e-9 |
SMART |
|
Blast:WD40
|
97 |
177 |
2e-31 |
BLAST |
|
WD40
|
182 |
226 |
5.1e-3 |
SMART |
|
WD40
|
241 |
280 |
7.9e-2 |
SMART |
|
WD40
|
283 |
322 |
1.9e-2 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000190997
AA Change: V186A
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: V186A
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
14 |
52 |
2.31e-1 |
SMART |
|
WD40
|
55 |
94 |
7.33e-7 |
SMART |
|
Blast:WD40
|
97 |
177 |
2e-31 |
BLAST |
|
WD40
|
182 |
226 |
8.29e-1 |
SMART |
|
WD40
|
241 |
280 |
1.28e1 |
SMART |
|
WD40
|
283 |
322 |
2.97e0 |
SMART |
|
low complexity region
|
344 |
358 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1089 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
97% (36/37) |
| 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. The encoded protein binds directly to retinoblastoma protein, which regulates cell proliferation. It interacts preferentially with the underphosphorylated retinoblastoma protein via the E1A-binding pocket B. Three alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl3 |
G |
T |
6: 34,776,664 (GRCm39) |
S385I |
probably damaging |
Het |
| Arhgap28 |
G |
A |
17: 68,203,088 (GRCm39) |
P122S |
probably benign |
Het |
| Arid2 |
T |
C |
15: 96,186,967 (GRCm39) |
V73A |
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Cacybp |
T |
C |
1: 160,031,222 (GRCm39) |
D202G |
probably benign |
Het |
| Chsy3 |
C |
G |
18: 59,309,242 (GRCm39) |
P165R |
probably benign |
Het |
| Creb3 |
C |
T |
4: 43,565,501 (GRCm39) |
Q227* |
probably null |
Het |
| Crnkl1 |
C |
A |
2: 145,773,226 (GRCm39) |
R140L |
probably damaging |
Het |
| Cyth4 |
A |
G |
15: 78,488,849 (GRCm39) |
E39G |
probably damaging |
Het |
| Dnah6 |
T |
C |
6: 73,168,481 (GRCm39) |
T481A |
probably benign |
Het |
| Dock4 |
T |
A |
12: 40,829,123 (GRCm39) |
I1003N |
possibly damaging |
Het |
| Galntl5 |
T |
C |
5: 25,391,178 (GRCm39) |
F26L |
probably benign |
Het |
| Glrx5 |
C |
G |
12: 104,999,147 (GRCm39) |
C63W |
probably damaging |
Het |
| Gm9602 |
T |
A |
14: 15,932,645 (GRCm39) |
I28N |
probably damaging |
Het |
| Hivep2 |
A |
G |
10: 14,006,101 (GRCm39) |
T900A |
probably benign |
Het |
| Hmcn1 |
A |
G |
1: 150,525,328 (GRCm39) |
|
probably null |
Het |
| Ighv1-24 |
G |
T |
12: 114,736,685 (GRCm39) |
L72I |
probably benign |
Het |
| Ilvbl |
G |
A |
10: 78,414,869 (GRCm39) |
C244Y |
probably benign |
Het |
| Kat7 |
A |
G |
11: 95,182,441 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,138,454 (GRCm39) |
|
probably null |
Het |
| Mall |
T |
A |
2: 127,550,774 (GRCm39) |
I129F |
probably damaging |
Het |
| Mdn1 |
A |
T |
4: 32,693,506 (GRCm39) |
K1044* |
probably null |
Het |
| Med23 |
A |
T |
10: 24,768,490 (GRCm39) |
R77* |
probably null |
Het |
| Med23 |
G |
A |
10: 24,768,491 (GRCm39) |
|
probably null |
Het |
| Metap2 |
A |
T |
10: 93,706,026 (GRCm39) |
L252* |
probably null |
Het |
| Or8k28 |
A |
T |
2: 86,285,691 (GRCm39) |
V308E |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,060,437 (GRCm39) |
V828D |
probably damaging |
Het |
| Psmd9 |
C |
T |
5: 123,372,653 (GRCm39) |
|
probably benign |
Het |
| Sco2 |
T |
C |
15: 89,257,882 (GRCm39) |
|
probably benign |
Het |
| Slc32a1 |
G |
T |
2: 158,456,656 (GRCm39) |
C437F |
possibly damaging |
Het |
| Spem2 |
T |
C |
11: 69,707,990 (GRCm39) |
E325G |
possibly damaging |
Het |
| Steap4 |
A |
G |
5: 8,027,017 (GRCm39) |
T327A |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,848,011 (GRCm39) |
D70G |
probably benign |
Het |
| Txndc5 |
T |
C |
13: 38,707,381 (GRCm39) |
K99E |
probably benign |
Het |
|
| Other mutations in Rbbp5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00823:Rbbp5
|
APN |
1 |
132,417,444 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01373:Rbbp5
|
APN |
1 |
132,420,339 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01577:Rbbp5
|
APN |
1 |
132,420,393 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL01728:Rbbp5
|
APN |
1 |
132,425,818 (GRCm39) |
missense |
probably benign |
|
|
R0097:Rbbp5
|
UTSW |
1 |
132,418,227 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R0420:Rbbp5
|
UTSW |
1 |
132,421,582 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1540:Rbbp5
|
UTSW |
1 |
132,422,020 (GRCm39) |
nonsense |
probably null |
|
|
R1965:Rbbp5
|
UTSW |
1 |
132,422,035 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2419:Rbbp5
|
UTSW |
1 |
132,421,564 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2924:Rbbp5
|
UTSW |
1 |
132,420,401 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3810:Rbbp5
|
UTSW |
1 |
132,420,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4234:Rbbp5
|
UTSW |
1 |
132,412,496 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5024:Rbbp5
|
UTSW |
1 |
132,418,226 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5166:Rbbp5
|
UTSW |
1 |
132,418,303 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5435:Rbbp5
|
UTSW |
1 |
132,422,013 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6018:Rbbp5
|
UTSW |
1 |
132,422,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6172:Rbbp5
|
UTSW |
1 |
132,424,554 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R7500:Rbbp5
|
UTSW |
1 |
132,421,879 (GRCm39) |
missense |
probably benign |
0.35 |
|
R9155:Rbbp5
|
UTSW |
1 |
132,422,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9168:Rbbp5
|
UTSW |
1 |
132,417,464 (GRCm39) |
missense |
probably benign |
0.28 |
|
R9273:Rbbp5
|
UTSW |
1 |
132,420,304 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0019:Rbbp5
|
UTSW |
1 |
132,417,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0025:Rbbp5
|
UTSW |
1 |
132,417,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCCTATGTGTCGTCACTAGT -3'
(R):5'- TAAGGCCGCACTGACACCT -3'
Sequencing Primer
(F):5'- ATGTGTCGTCACTAGTTTGTTTCCAC -3'
(R):5'- AGTGCCATTATCTCTGCACTCAGG -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation