Incidental Mutation 'IGL00823:Rbbp5'
ID |
13773 |
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 # |
IGL00823
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
132405103-132433397 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 132417444 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 88
(V88I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000140790
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027700]
[ENSMUST00000187505]
[ENSMUST00000188575]
[ENSMUST00000189786]
[ENSMUST00000190825]
[ENSMUST00000190997]
|
AlphaFold |
Q8BX09 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027700
|
SMART Domains |
Protein: ENSMUSP00000027700 Gene: ENSMUSG00000026439
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
|
SMART Domains |
Protein: ENSMUSP00000141176 Gene: ENSMUSG00000026439
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
AA Change: V74I
PolyPhen 2
Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000140344 Gene: ENSMUSG00000026439 AA Change: V74I
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 damaging
Transcript: ENSMUST00000189786
AA Change: V88I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000140790 Gene: ENSMUSG00000026439 AA Change: V88I
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: V113I
PolyPhen 2
Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000139519 Gene: ENSMUSG00000026439 AA Change: V113I
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: V113I
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000141003 Gene: ENSMUSG00000026439 AA Change: V113I
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdh |
T |
C |
5: 77,026,381 (GRCm39) |
|
probably benign |
Het |
Adam5 |
T |
C |
8: 25,308,758 (GRCm39) |
E39G |
probably benign |
Het |
Anapc7 |
G |
A |
5: 122,571,540 (GRCm39) |
W205* |
probably null |
Het |
Arhgap5 |
C |
T |
12: 52,565,525 (GRCm39) |
T832I |
possibly damaging |
Het |
Arhgef10 |
T |
A |
8: 14,990,378 (GRCm39) |
|
probably benign |
Het |
Atg5 |
A |
G |
10: 44,239,040 (GRCm39) |
T274A |
probably benign |
Het |
Baiap2l2 |
G |
T |
15: 79,168,765 (GRCm39) |
|
probably benign |
Het |
Brap |
T |
A |
5: 121,803,290 (GRCm39) |
M146K |
probably damaging |
Het |
Brpf1 |
T |
C |
6: 113,298,847 (GRCm39) |
S1074P |
probably benign |
Het |
Camta1 |
A |
C |
4: 151,169,058 (GRCm39) |
I231R |
probably benign |
Het |
Ccdc15 |
C |
T |
9: 37,231,709 (GRCm39) |
G205D |
probably benign |
Het |
Cd6 |
G |
T |
19: 10,773,758 (GRCm39) |
|
probably benign |
Het |
Cdh17 |
T |
G |
4: 11,783,412 (GRCm39) |
S219R |
possibly damaging |
Het |
Cgn |
G |
A |
3: 94,674,519 (GRCm39) |
R873W |
probably damaging |
Het |
Ctnna3 |
C |
T |
10: 63,373,322 (GRCm39) |
P41L |
possibly damaging |
Het |
Dmbt1 |
T |
C |
7: 130,659,888 (GRCm39) |
W484R |
probably benign |
Het |
Dmd |
A |
G |
X: 83,469,419 (GRCm39) |
|
probably null |
Het |
Dnah17 |
C |
T |
11: 117,937,987 (GRCm39) |
V3347I |
probably benign |
Het |
Fgd5 |
T |
A |
6: 91,965,440 (GRCm39) |
S400T |
possibly damaging |
Het |
Kitl |
C |
A |
10: 99,923,206 (GRCm39) |
|
probably benign |
Het |
Lamc3 |
A |
T |
2: 31,808,533 (GRCm39) |
D763V |
probably damaging |
Het |
Lgmn |
T |
C |
12: 102,364,435 (GRCm39) |
|
probably benign |
Het |
Lpcat2 |
T |
G |
8: 93,591,598 (GRCm39) |
W81G |
possibly damaging |
Het |
Myh13 |
A |
G |
11: 67,246,773 (GRCm39) |
I1165V |
probably benign |
Het |
Nf1 |
A |
G |
11: 79,456,343 (GRCm39) |
D599G |
probably damaging |
Het |
Nin |
T |
C |
12: 70,061,567 (GRCm39) |
N2099S |
probably benign |
Het |
Nlrc4 |
T |
C |
17: 74,754,985 (GRCm39) |
D77G |
probably benign |
Het |
Otub1 |
A |
G |
19: 7,181,416 (GRCm39) |
|
probably benign |
Het |
Pabir2 |
A |
T |
X: 52,334,208 (GRCm39) |
C222S |
probably damaging |
Het |
Pah |
A |
G |
10: 87,406,193 (GRCm39) |
Y174C |
probably null |
Het |
Scn1a |
C |
T |
2: 66,155,279 (GRCm39) |
R560H |
probably benign |
Het |
Snx5 |
T |
C |
2: 144,097,485 (GRCm39) |
I217V |
probably benign |
Het |
Syne2 |
T |
C |
12: 76,036,016 (GRCm39) |
S3769P |
probably damaging |
Het |
Tent2 |
T |
C |
13: 93,322,905 (GRCm39) |
T15A |
probably benign |
Het |
Tmem255b |
T |
C |
8: 13,507,054 (GRCm39) |
M261T |
probably benign |
Het |
Top3b |
T |
C |
16: 16,705,486 (GRCm39) |
I417T |
probably damaging |
Het |
Tspan2 |
T |
C |
3: 102,665,549 (GRCm39) |
|
probably null |
Het |
Ttn |
T |
C |
2: 76,540,057 (GRCm39) |
T34310A |
possibly damaging |
Het |
Ush2a |
G |
A |
1: 188,643,640 (GRCm39) |
C4334Y |
possibly damaging |
Het |
Wdpcp |
A |
G |
11: 21,609,995 (GRCm39) |
D21G |
probably damaging |
Het |
Yy2 |
A |
C |
X: 156,351,207 (GRCm39) |
D186E |
probably benign |
Het |
|
Other mutations in Rbbp5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2012-12-06 |