Incidental Mutation 'R4234:Rbbp5'
| ID |
320993 |
| 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 # |
R4234 (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 132412496 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 20
(T20A)
|
| 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
|
| 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: T20A
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000140344
Gene: ENSMUSG00000026439
AA Change: T20A
| 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: T20A
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139519
Gene: ENSMUSG00000026439
AA Change: T20A
| 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: T20A
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000141003
Gene: ENSMUSG00000026439
AA Change: T20A
| 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: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| 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 |
|---|
| 4930567H17Rik |
C |
T |
X: 69,438,135 (GRCm39) |
A53T |
probably benign |
Het |
| Ahnak |
A |
T |
19: 8,978,150 (GRCm39) |
K90* |
probably null |
Het |
| Ajuba |
T |
C |
14: 54,806,983 (GRCm39) |
R490G |
probably damaging |
Het |
| Akap6 |
T |
A |
12: 53,186,454 (GRCm39) |
N1289K |
probably damaging |
Het |
| Ankfy1 |
G |
A |
11: 72,605,310 (GRCm39) |
|
probably null |
Het |
| Ap3s1 |
A |
T |
18: 46,912,267 (GRCm39) |
T96S |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,891,948 (GRCm39) |
V161A |
probably damaging |
Het |
| Arhgef18 |
T |
C |
8: 3,500,317 (GRCm39) |
I541T |
possibly damaging |
Het |
| Aspg |
T |
A |
12: 112,089,750 (GRCm39) |
Y429* |
probably null |
Het |
| Atg14 |
T |
C |
14: 47,788,802 (GRCm39) |
K184E |
probably benign |
Het |
| BC034090 |
C |
T |
1: 155,117,326 (GRCm39) |
G264D |
probably benign |
Het |
| Casp8 |
T |
C |
1: 58,883,929 (GRCm39) |
V432A |
probably damaging |
Het |
| Cerk |
T |
C |
15: 86,026,989 (GRCm39) |
K174E |
probably benign |
Het |
| Col19a1 |
T |
C |
1: 24,354,476 (GRCm39) |
|
probably null |
Het |
| Cyp2c23 |
G |
T |
19: 44,017,604 (GRCm39) |
T8K |
unknown |
Het |
| Ddx1 |
C |
T |
12: 13,273,858 (GRCm39) |
V590I |
possibly damaging |
Het |
| Dok4 |
T |
C |
8: 95,592,292 (GRCm39) |
E232G |
probably damaging |
Het |
| Dpf1 |
T |
C |
7: 29,015,057 (GRCm39) |
S304P |
probably damaging |
Het |
| Dpyd |
T |
A |
3: 119,225,233 (GRCm39) |
I1002N |
probably damaging |
Het |
| Fam107b |
T |
C |
2: 3,771,777 (GRCm39) |
S3P |
possibly damaging |
Het |
| Gm1527 |
G |
A |
3: 28,968,515 (GRCm39) |
G189D |
probably damaging |
Het |
| Hspa12b |
T |
C |
2: 130,980,932 (GRCm39) |
V162A |
probably benign |
Het |
| Lix1l |
T |
A |
3: 96,530,973 (GRCm39) |
|
probably null |
Het |
| Mdc1 |
T |
C |
17: 36,159,716 (GRCm39) |
C658R |
probably benign |
Het |
| Mrps30 |
T |
C |
13: 118,523,376 (GRCm39) |
D132G |
probably damaging |
Het |
| Myh15 |
G |
T |
16: 48,983,405 (GRCm39) |
V1507L |
probably benign |
Het |
| Nfe2l1 |
T |
C |
11: 96,710,735 (GRCm39) |
D210G |
probably damaging |
Het |
| Notch3 |
T |
A |
17: 32,360,315 (GRCm39) |
I1539F |
probably damaging |
Het |
| Pcdhac1 |
A |
C |
18: 37,224,011 (GRCm39) |
S275R |
probably damaging |
Het |
| Pcdhga5 |
A |
G |
18: 37,829,001 (GRCm39) |
D483G |
possibly damaging |
Het |
| Ralgapa1 |
C |
T |
12: 55,687,429 (GRCm39) |
R2019Q |
probably damaging |
Het |
| Rere |
T |
C |
4: 150,701,862 (GRCm39) |
V1414A |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr3 |
G |
T |
2: 112,740,752 (GRCm39) |
N538K |
probably damaging |
Het |
| Serpina3j |
C |
A |
12: 104,281,445 (GRCm39) |
T206K |
probably benign |
Het |
| Skint11 |
C |
A |
4: 114,101,856 (GRCm39) |
Q99K |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,722,370 (GRCm39) |
C416F |
probably benign |
Het |
| Tas2r140 |
A |
T |
6: 133,031,915 (GRCm39) |
V281D |
probably damaging |
Het |
| Tex30 |
A |
T |
1: 44,130,672 (GRCm39) |
I32K |
possibly damaging |
Het |
| Trpc2 |
T |
C |
7: 101,737,342 (GRCm39) |
I752T |
possibly damaging |
Het |
| Wnk2 |
A |
G |
13: 49,214,604 (GRCm39) |
V1314A |
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 |
|
R3811:Rbbp5
|
UTSW |
1 |
132,420,325 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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'- GCTCCAAAGTACAGAGATCCATTATAC -3'
(R):5'- ACCTGCAATTAATACTGGGCC -3'
Sequencing Primer
(F):5'- CAGAGATCCATTATACCCATTTGAG -3'
(R):5'- CCCAGAATGTATATGATCCTGGGC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation