Incidental Mutation 'IGL01577:Rbbp5'
| ID |
91302 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbbp5
|
| Ensembl Gene |
ENSMUSG00000026439 |
| Gene Name |
retinoblastoma binding protein 5, histone lysine methyltransferase complex subunit |
| Synonyms |
4933411J24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.957)
|
| Stock # |
IGL01577
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132405103-132433397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132420393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 209
(K209E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139519
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027700]
[ENSMUST00000187505]
[ENSMUST00000188575]
[ENSMUST00000189786]
[ENSMUST00000190825]
[ENSMUST00000190997]
|
| AlphaFold |
Q8BX09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027700
AA Change: K82E
PolyPhen 2
Score 0.401 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: K82E
| 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: K82E
PolyPhen 2
Score 0.657 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: K82E
| 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: K209E
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: K209E
| 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: K209E
PolyPhen 2
Score 0.526 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: K209E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr8 |
A |
G |
14: 29,709,232 (GRCm39) |
T279A |
probably benign |
Het |
| Adamts9 |
T |
G |
6: 92,835,128 (GRCm39) |
|
probably benign |
Het |
| Apba3 |
G |
A |
10: 81,108,053 (GRCm39) |
G403D |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,260,102 (GRCm39) |
V235I |
possibly damaging |
Het |
| Brca2 |
T |
A |
5: 150,465,085 (GRCm39) |
C1616* |
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,715,244 (GRCm39) |
E280V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,268,477 (GRCm39) |
I1241T |
possibly damaging |
Het |
| Cplx4 |
G |
T |
18: 66,103,015 (GRCm39) |
A35E |
probably damaging |
Het |
| Cyp2j8 |
T |
G |
4: 96,367,308 (GRCm39) |
D270A |
probably damaging |
Het |
| Cyp7a1 |
T |
C |
4: 6,273,618 (GRCm39) |
D96G |
probably damaging |
Het |
| Ddx11 |
G |
A |
17: 66,446,398 (GRCm39) |
R429H |
possibly damaging |
Het |
| Depdc5 |
C |
A |
5: 33,113,241 (GRCm39) |
T419N |
possibly damaging |
Het |
| Diaph3 |
A |
C |
14: 87,143,467 (GRCm39) |
I737R |
probably damaging |
Het |
| Elf2 |
C |
T |
3: 51,163,773 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
A |
16: 59,777,289 (GRCm39) |
I673L |
possibly damaging |
Het |
| Ephx1 |
A |
G |
1: 180,829,545 (GRCm39) |
M1T |
probably null |
Het |
| Fndc3a |
A |
T |
14: 72,827,298 (GRCm39) |
M84K |
probably damaging |
Het |
| Gad2 |
T |
C |
2: 22,571,292 (GRCm39) |
|
probably benign |
Het |
| Gba2 |
G |
A |
4: 43,573,753 (GRCm39) |
Q180* |
probably null |
Het |
| Gga2 |
A |
G |
7: 121,589,006 (GRCm39) |
Y574H |
probably damaging |
Het |
| Gm7168 |
A |
T |
17: 14,169,649 (GRCm39) |
R339W |
probably damaging |
Het |
| Hdac10 |
T |
C |
15: 89,010,416 (GRCm39) |
E302G |
possibly damaging |
Het |
| Ighv1-72 |
A |
G |
12: 115,721,893 (GRCm39) |
V21A |
possibly damaging |
Het |
| Kif15 |
A |
G |
9: 122,825,399 (GRCm39) |
E774G |
probably benign |
Het |
| Lig3 |
A |
G |
11: 82,674,303 (GRCm39) |
N43S |
probably benign |
Het |
| Nmnat1 |
T |
A |
4: 149,554,135 (GRCm39) |
D135V |
possibly damaging |
Het |
| Or1s2 |
A |
G |
19: 13,758,162 (GRCm39) |
Y62C |
probably damaging |
Het |
| Or52n2 |
A |
G |
7: 104,542,730 (GRCm39) |
F35S |
probably benign |
Het |
| Pak6 |
A |
C |
2: 118,524,129 (GRCm39) |
K428T |
probably benign |
Het |
| Pou2f3 |
G |
A |
9: 43,058,178 (GRCm39) |
Q56* |
probably null |
Het |
| Prep |
T |
C |
10: 44,948,144 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
C |
T |
2: 24,293,234 (GRCm39) |
P700S |
probably damaging |
Het |
| Rad18 |
A |
T |
6: 112,642,302 (GRCm39) |
|
probably benign |
Het |
| Smurf1 |
G |
A |
5: 144,829,998 (GRCm39) |
T335I |
probably damaging |
Het |
| Tbcd |
G |
A |
11: 121,387,838 (GRCm39) |
R72Q |
probably damaging |
Het |
| Tsga10 |
T |
C |
1: 37,874,538 (GRCm39) |
T116A |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,569,127 (GRCm39) |
|
probably null |
Het |
| Vmn1r87 |
C |
A |
7: 12,865,775 (GRCm39) |
V171F |
probably benign |
Het |
| Ythdc2 |
A |
T |
18: 44,991,349 (GRCm39) |
M786L |
probably benign |
Het |
| Zmym6 |
C |
A |
4: 126,999,223 (GRCm39) |
T469K |
probably damaging |
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 |
|
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 |
|
R3811: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 |
|
| Posted On |
2013-12-09 |
Incidental Mutation