Incidental Mutation 'R5166:Rbbp5'
| ID |
397281 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R5166 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
132405103-132433397 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132418303 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 41
(T41A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141176
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027700]
[ENSMUST00000187505]
[ENSMUST00000188575]
[ENSMUST00000189786]
[ENSMUST00000190825]
[ENSMUST00000190997]
|
| AlphaFold |
Q8BX09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027700
AA Change: T41A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000027700
Gene: ENSMUSG00000026439
AA Change: T41A
| 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: T41A
PolyPhen 2
Score 0.595 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000141176
Gene: ENSMUSG00000026439
AA Change: T41A
| 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
AA Change: T143A
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000140790
Gene: ENSMUSG00000026439
AA Change: T143A
| 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: T168A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: T168A
| 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: T168A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: T168A
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,738,083 (GRCm39) |
T435A |
probably benign |
Het |
| Adcy3 |
T |
A |
12: 4,184,438 (GRCm39) |
I38N |
probably damaging |
Het |
| Aff1 |
A |
G |
5: 103,902,523 (GRCm39) |
|
probably benign |
Het |
| Asxl1 |
A |
G |
2: 153,243,041 (GRCm39) |
E1197G |
probably damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,105 (GRCm39) |
N517K |
probably damaging |
Het |
| Carmil1 |
C |
T |
13: 24,338,966 (GRCm39) |
|
probably null |
Het |
| Ccdc185 |
G |
A |
1: 182,576,564 (GRCm39) |
Q42* |
probably null |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Cdh10 |
A |
G |
15: 19,013,446 (GRCm39) |
E682G |
probably damaging |
Het |
| Col6a3 |
C |
A |
1: 90,738,330 (GRCm39) |
R456L |
probably damaging |
Het |
| Egf |
C |
T |
3: 129,529,489 (GRCm39) |
R307H |
probably benign |
Het |
| Flt4 |
T |
C |
11: 49,524,084 (GRCm39) |
|
probably null |
Het |
| Fstl5 |
A |
C |
3: 76,536,267 (GRCm39) |
K26Q |
possibly damaging |
Het |
| Gk5 |
G |
T |
9: 96,056,821 (GRCm39) |
A413S |
probably damaging |
Het |
| Glcci1 |
T |
A |
6: 8,537,854 (GRCm39) |
S157R |
probably benign |
Het |
| Gzmc |
G |
A |
14: 56,471,433 (GRCm39) |
A36V |
probably damaging |
Het |
| Hexb |
T |
C |
13: 97,318,512 (GRCm39) |
N283S |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,249,774 (GRCm39) |
E2239G |
possibly damaging |
Het |
| Igkv10-95 |
A |
T |
6: 68,657,544 (GRCm39) |
Y20F |
probably benign |
Het |
| Il17re |
A |
G |
6: 113,439,923 (GRCm39) |
T181A |
probably benign |
Het |
| Kcnh6 |
G |
A |
11: 105,911,145 (GRCm39) |
A514T |
possibly damaging |
Het |
| Kcnk10 |
G |
A |
12: 98,401,254 (GRCm39) |
R460W |
probably damaging |
Het |
| Krtap5-2 |
A |
T |
7: 141,728,721 (GRCm39) |
S320T |
unknown |
Het |
| Larp1b |
G |
T |
3: 40,918,487 (GRCm39) |
E24* |
probably null |
Het |
| Mettl22 |
A |
G |
16: 8,296,115 (GRCm39) |
T135A |
probably benign |
Het |
| Mlh1 |
A |
G |
9: 111,070,581 (GRCm39) |
V378A |
probably benign |
Het |
| Mmrn1 |
A |
T |
6: 60,953,474 (GRCm39) |
H585L |
probably benign |
Het |
| Myh14 |
A |
G |
7: 44,278,279 (GRCm39) |
F1024L |
probably damaging |
Het |
| Nbea |
A |
T |
3: 55,926,874 (GRCm39) |
H776Q |
probably damaging |
Het |
| Nod2 |
A |
G |
8: 89,390,875 (GRCm39) |
D372G |
possibly damaging |
Het |
| Nptn |
C |
T |
9: 58,526,263 (GRCm39) |
R137* |
probably null |
Het |
| Or9k2 |
T |
C |
10: 129,998,430 (GRCm39) |
Y255C |
possibly damaging |
Het |
| Pm20d2 |
C |
T |
4: 33,181,803 (GRCm39) |
V267I |
probably benign |
Het |
| Rassf10 |
A |
G |
7: 112,553,627 (GRCm39) |
D76G |
probably benign |
Het |
| Rttn |
T |
C |
18: 89,031,218 (GRCm39) |
V643A |
possibly damaging |
Het |
| Sbno2 |
C |
A |
10: 79,902,762 (GRCm39) |
E421* |
probably null |
Het |
| Slc17a3 |
T |
C |
13: 24,026,525 (GRCm39) |
|
probably null |
Het |
| Slc1a6 |
T |
A |
10: 78,632,103 (GRCm39) |
|
probably null |
Het |
| Slco2b1 |
A |
G |
7: 99,338,220 (GRCm39) |
S106P |
possibly damaging |
Het |
| Spef1 |
T |
C |
2: 131,016,511 (GRCm39) |
N28S |
probably damaging |
Het |
| Srebf2 |
C |
A |
15: 82,069,603 (GRCm39) |
T675N |
probably damaging |
Het |
| Srp68 |
C |
A |
11: 116,156,300 (GRCm39) |
E147D |
probably damaging |
Het |
| Tbcd |
T |
A |
11: 121,500,216 (GRCm39) |
L1114H |
possibly damaging |
Het |
| Tex15 |
T |
C |
8: 34,066,420 (GRCm39) |
V1950A |
probably benign |
Het |
| Tnfsf9 |
T |
A |
17: 57,413,263 (GRCm39) |
F148Y |
possibly damaging |
Het |
| Traf6 |
A |
G |
2: 101,520,402 (GRCm39) |
D150G |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,693,717 (GRCm39) |
Y262H |
possibly damaging |
Het |
| Unc93b1 |
A |
G |
19: 3,994,027 (GRCm39) |
Y386C |
probably damaging |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,125 (GRCm39) |
E119V |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,842,100 (GRCm39) |
|
probably null |
Het |
| Zfp398 |
A |
G |
6: 47,842,838 (GRCm39) |
I165V |
probably benign |
Het |
| Zfp850 |
A |
T |
7: 27,689,781 (GRCm39) |
C142* |
probably null |
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 |
|
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 |
|
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'- CATTTGTTGGAGCTGGGAGA -3'
(R):5'- AATCGTCTACTCTAATTCAAAGTACAG -3'
Sequencing Primer
(F):5'- GGGACTCAATCTGCTGATACCATAG -3'
(R):5'- ATTTCAGGTGAGAGACCG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation