Incidental Mutation 'IGL01373:Rbbp5'
| ID |
84100 |
| 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 # |
IGL01373
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
132405103-132433397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 132420339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 191
(V191I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141003
(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: V64I
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: V64I
| 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 |
probably benign
Transcript: ENSMUST00000187505
AA Change: V64I
PolyPhen 2
Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: V64I
| 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 |
probably benign
Transcript: ENSMUST00000190825
AA Change: V191I
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: V191I
| 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 |
probably benign
Transcript: ENSMUST00000190997
AA Change: V191I
PolyPhen 2
Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: V191I
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm4 |
C |
T |
7: 119,310,642 (GRCm39) |
R510* |
probably null |
Het |
| Adamts12 |
A |
T |
15: 11,310,816 (GRCm39) |
E1024D |
probably benign |
Het |
| Aff2 |
T |
A |
X: 68,911,335 (GRCm39) |
D1239E |
possibly damaging |
Het |
| Agps |
T |
C |
2: 75,683,128 (GRCm39) |
V151A |
probably benign |
Het |
| Cables1 |
A |
T |
18: 12,021,821 (GRCm39) |
R276S |
probably damaging |
Het |
| Cep72 |
A |
G |
13: 74,207,578 (GRCm39) |
S64P |
probably damaging |
Het |
| Cmah |
A |
T |
13: 24,614,532 (GRCm39) |
D159V |
probably damaging |
Het |
| Cox6a1 |
C |
A |
5: 115,483,898 (GRCm39) |
|
probably benign |
Het |
| Cpxm1 |
T |
C |
2: 130,236,055 (GRCm39) |
E369G |
probably damaging |
Het |
| Dnah6 |
A |
G |
6: 73,051,731 (GRCm39) |
L3021P |
probably benign |
Het |
| Esyt1 |
T |
C |
10: 128,354,810 (GRCm39) |
E530G |
possibly damaging |
Het |
| Fancd2 |
A |
G |
6: 113,530,713 (GRCm39) |
I449V |
probably benign |
Het |
| Fbxw24 |
C |
T |
9: 109,452,701 (GRCm39) |
G98D |
probably damaging |
Het |
| Folh1 |
T |
C |
7: 86,395,350 (GRCm39) |
I361V |
probably benign |
Het |
| Gpr19 |
T |
A |
6: 134,847,284 (GRCm39) |
H41L |
possibly damaging |
Het |
| Kcnq4 |
A |
G |
4: 120,574,229 (GRCm39) |
V143A |
probably damaging |
Het |
| Larp7-ps |
A |
G |
4: 92,079,862 (GRCm39) |
V42A |
probably damaging |
Het |
| Lmcd1 |
A |
G |
6: 112,287,586 (GRCm39) |
I91V |
probably benign |
Het |
| Lpin3 |
G |
T |
2: 160,745,649 (GRCm39) |
D651Y |
probably damaging |
Het |
| Ms4a6b |
A |
T |
19: 11,506,871 (GRCm39) |
H220L |
possibly damaging |
Het |
| Mxd4 |
G |
A |
5: 34,341,690 (GRCm39) |
|
probably benign |
Het |
| Nxnl2 |
T |
C |
13: 51,325,488 (GRCm39) |
F44L |
probably damaging |
Het |
| Or11g2 |
T |
A |
14: 50,856,069 (GRCm39) |
I130N |
probably damaging |
Het |
| Or2ag16 |
T |
C |
7: 106,351,653 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
A |
T |
18: 37,639,621 (GRCm39) |
R716W |
probably benign |
Het |
| Pcx |
T |
A |
19: 4,670,263 (GRCm39) |
|
probably null |
Het |
| Plekhf1 |
T |
C |
7: 37,921,221 (GRCm39) |
T116A |
probably benign |
Het |
| Psmb2 |
G |
T |
4: 126,580,885 (GRCm39) |
R93L |
probably damaging |
Het |
| Pstpip2 |
T |
A |
18: 77,922,916 (GRCm39) |
L42* |
probably null |
Het |
| Ptpn22 |
A |
T |
3: 103,793,520 (GRCm39) |
D557V |
probably damaging |
Het |
| Rgs1 |
T |
A |
1: 144,121,116 (GRCm39) |
D185V |
probably damaging |
Het |
| Selenoh |
A |
G |
2: 84,500,938 (GRCm39) |
|
probably benign |
Het |
| Slc6a5 |
C |
T |
7: 49,567,481 (GRCm39) |
P312S |
probably benign |
Het |
| Snapc1 |
T |
A |
12: 74,011,454 (GRCm39) |
M40K |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,796,000 (GRCm39) |
Y1726* |
probably null |
Het |
| Syne2 |
T |
C |
12: 76,033,881 (GRCm39) |
I3710T |
probably damaging |
Het |
| Tdrd9 |
G |
A |
12: 112,006,868 (GRCm39) |
V911M |
probably damaging |
Het |
| Tex9 |
A |
T |
9: 72,388,036 (GRCm39) |
D134E |
possibly damaging |
Het |
| Ttc41 |
G |
T |
10: 86,611,821 (GRCm39) |
C1063F |
possibly damaging |
Het |
| Usp38 |
C |
A |
8: 81,716,647 (GRCm39) |
A496S |
possibly damaging |
Het |
| Vmn2r13 |
T |
A |
5: 109,304,568 (GRCm39) |
Y621F |
probably damaging |
Het |
| Vmn2r67 |
T |
A |
7: 84,785,834 (GRCm39) |
M724L |
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 |
|
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 |
|
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 |
2013-11-11 |
Incidental Mutation