Incidental Mutation 'R5210:Rb1'
| ID |
403105 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rb1
|
| Ensembl Gene |
ENSMUSG00000022105 |
| Gene Name |
RB transcriptional corepressor 1 |
| Synonyms |
Rb-1, retinoblastoma 1, Rb, pRb |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5210 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
73430298-73563446 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73436751 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 838
(F838S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022701
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022701]
[ENSMUST00000171767]
|
| AlphaFold |
P13405 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022701
AA Change: F838S
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000022701
Gene: ENSMUSG00000022105
AA Change: F838S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
28 |
N/A |
INTRINSIC |
|
low complexity region
|
37 |
53 |
N/A |
INTRINSIC |
|
DUF3452
|
97 |
223 |
4.59e-25 |
SMART |
|
RB_A
|
367 |
567 |
5.53e-92 |
SMART |
|
CYCLIN
|
653 |
740 |
1.62e-5 |
SMART |
|
Rb_C
|
761 |
920 |
1.28e-96 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163932
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000168495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171767
|
| SMART Domains |
Protein: ENSMUSP00000127397
Gene: ENSMUSG00000022106
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RCC1
|
117 |
167 |
1.7e-16 |
PFAM |
|
Pfam:RCC1_2
|
154 |
183 |
4.9e-15 |
PFAM |
|
Pfam:RCC1
|
170 |
220 |
8.4e-16 |
PFAM |
|
Pfam:RCC1
|
223 |
272 |
5.5e-18 |
PFAM |
|
Pfam:RCC1_2
|
259 |
288 |
1.7e-11 |
PFAM |
|
Pfam:RCC1
|
275 |
324 |
6.8e-14 |
PFAM |
|
BTB
|
394 |
487 |
2.69e-21 |
SMART |
|
| Meta Mutation Damage Score |
0.6360 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
98% (40/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a negative regulator of the cell cycle and was the first tumor suppressor gene found. The encoded protein also stabilizes constitutive heterochromatin to maintain the overall chromatin structure. The active, hypophosphorylated form of the protein binds transcription factor E2F1. Defects in this gene are a cause of childhood cancer retinoblastoma (RB), bladder cancer, and osteogenic sarcoma. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations exhibit abnormalities of the neuronal and hematopoietic systems and die in utero. Heterozygotes may develop pituitary tumors associated with loss of the normal allele. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim2 |
T |
A |
5: 35,994,416 (GRCm39) |
V342E |
probably benign |
Het |
| Adgre4 |
T |
A |
17: 56,092,029 (GRCm39) |
N96K |
probably damaging |
Het |
| Aopep |
A |
G |
13: 63,215,924 (GRCm39) |
I399V |
probably benign |
Het |
| Bltp1 |
T |
C |
3: 37,087,414 (GRCm39) |
V710A |
possibly damaging |
Het |
| Ccdc171 |
A |
G |
4: 83,473,093 (GRCm39) |
E174G |
probably damaging |
Het |
| Col11a1 |
T |
C |
3: 113,946,806 (GRCm39) |
F1026S |
probably damaging |
Het |
| Coro1c |
A |
G |
5: 113,983,367 (GRCm39) |
L387P |
probably damaging |
Het |
| Dsg1c |
C |
T |
18: 20,407,758 (GRCm39) |
T368I |
probably damaging |
Het |
| Exoc3l4 |
C |
A |
12: 111,395,275 (GRCm39) |
|
probably benign |
Het |
| Extl1 |
T |
C |
4: 134,087,895 (GRCm39) |
D453G |
probably benign |
Het |
| Gm21136 |
T |
C |
7: 38,567,165 (GRCm39) |
|
noncoding transcript |
Het |
| H3c4 |
G |
T |
13: 23,760,015 (GRCm39) |
G14C |
possibly damaging |
Het |
| Ifi208 |
T |
C |
1: 173,510,831 (GRCm39) |
S329P |
probably benign |
Het |
| Iscu |
T |
A |
5: 113,915,034 (GRCm39) |
L182* |
probably null |
Het |
| Klra6 |
T |
A |
6: 129,995,855 (GRCm39) |
K168* |
probably null |
Het |
| Map3k5 |
T |
C |
10: 19,900,647 (GRCm39) |
S274P |
possibly damaging |
Het |
| Megf6 |
G |
T |
4: 154,354,273 (GRCm39) |
|
probably benign |
Het |
| Mmp12 |
T |
A |
9: 7,349,729 (GRCm39) |
Y53* |
probably null |
Het |
| Nucb2 |
T |
A |
7: 116,128,222 (GRCm39) |
Y278N |
probably damaging |
Het |
| Numa1 |
C |
A |
7: 101,649,188 (GRCm39) |
A973E |
probably benign |
Het |
| Or1o4 |
C |
A |
17: 37,590,824 (GRCm39) |
K162N |
probably benign |
Het |
| Or2w1b |
A |
T |
13: 21,300,222 (GRCm39) |
Y120F |
probably damaging |
Het |
| Or5b123 |
A |
G |
19: 13,596,763 (GRCm39) |
K79R |
probably damaging |
Het |
| Or7g18 |
T |
A |
9: 18,787,103 (GRCm39) |
L157Q |
probably damaging |
Het |
| Pcdhga3 |
C |
A |
18: 37,808,963 (GRCm39) |
T472K |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,763,464 (GRCm39) |
D694G |
probably damaging |
Het |
| Plch1 |
A |
G |
3: 63,607,199 (GRCm39) |
|
probably null |
Het |
| Pou3f2 |
C |
T |
4: 22,487,324 (GRCm39) |
D270N |
probably damaging |
Het |
| Prrc2a |
G |
A |
17: 35,372,596 (GRCm39) |
R1682W |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,741,872 (GRCm39) |
E769G |
probably damaging |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Tmem63c |
A |
T |
12: 87,136,172 (GRCm39) |
E796V |
probably benign |
Het |
| Tomm70a |
G |
A |
16: 56,953,614 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
G |
A |
5: 120,677,279 (GRCm39) |
T676I |
probably damaging |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
|
| Other mutations in Rb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00497:Rb1
|
APN |
14 |
73,502,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00951:Rb1
|
APN |
14 |
73,559,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01152:Rb1
|
APN |
14 |
73,443,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01339:Rb1
|
APN |
14 |
73,501,811 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
IGL01349:Rb1
|
APN |
14 |
73,506,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01390:Rb1
|
APN |
14 |
73,532,439 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02066:Rb1
|
APN |
14 |
73,435,974 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02207:Rb1
|
APN |
14 |
73,443,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02860:Rb1
|
APN |
14 |
73,443,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03370:Rb1
|
APN |
14 |
73,520,306 (GRCm39) |
critical splice donor site |
probably null |
|
|
rubidium
|
UTSW |
14 |
73,436,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0028:Rb1
|
UTSW |
14 |
73,502,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0553:Rb1
|
UTSW |
14 |
73,449,152 (GRCm39) |
nonsense |
probably null |
|
|
R0563:Rb1
|
UTSW |
14 |
73,454,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0586:Rb1
|
UTSW |
14 |
73,525,124 (GRCm39) |
intron |
probably benign |
|
|
R0595:Rb1
|
UTSW |
14 |
73,511,120 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Rb1
|
UTSW |
14 |
73,434,653 (GRCm39) |
makesense |
probably null |
|
|
R1480:Rb1
|
UTSW |
14 |
73,500,042 (GRCm39) |
missense |
probably benign |
|
|
R1513:Rb1
|
UTSW |
14 |
73,559,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1752:Rb1
|
UTSW |
14 |
73,525,064 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1919:Rb1
|
UTSW |
14 |
73,450,430 (GRCm39) |
nonsense |
probably null |
|
|
R2010:Rb1
|
UTSW |
14 |
73,532,433 (GRCm39) |
missense |
probably benign |
0.16 |
|
R2087:Rb1
|
UTSW |
14 |
73,517,692 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2152:Rb1
|
UTSW |
14 |
73,526,165 (GRCm39) |
missense |
probably benign |
|
|
R2167:Rb1
|
UTSW |
14 |
73,449,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3950:Rb1
|
UTSW |
14 |
73,500,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4183:Rb1
|
UTSW |
14 |
73,435,966 (GRCm39) |
splice site |
probably null |
|
|
R4225:Rb1
|
UTSW |
14 |
73,506,631 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R4306:Rb1
|
UTSW |
14 |
73,500,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4464:Rb1
|
UTSW |
14 |
73,436,638 (GRCm39) |
splice site |
probably null |
|
|
R4609:Rb1
|
UTSW |
14 |
73,499,954 (GRCm39) |
splice site |
probably benign |
|
|
R4671:Rb1
|
UTSW |
14 |
73,511,116 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4916:Rb1
|
UTSW |
14 |
73,454,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5160:Rb1
|
UTSW |
14 |
73,501,895 (GRCm39) |
synonymous |
silent |
|
|
R5320:Rb1
|
UTSW |
14 |
73,450,566 (GRCm39) |
nonsense |
probably null |
|
|
R5436:Rb1
|
UTSW |
14 |
73,450,580 (GRCm39) |
splice site |
probably null |
|
|
R5467:Rb1
|
UTSW |
14 |
73,449,060 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5592:Rb1
|
UTSW |
14 |
73,449,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6326:Rb1
|
UTSW |
14 |
73,435,974 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6363:Rb1
|
UTSW |
14 |
73,525,081 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6395:Rb1
|
UTSW |
14 |
73,436,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6414:Rb1
|
UTSW |
14 |
73,520,414 (GRCm39) |
missense |
unknown |
|
|
R6460:Rb1
|
UTSW |
14 |
73,515,894 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6503:Rb1
|
UTSW |
14 |
73,443,320 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6519:Rb1
|
UTSW |
14 |
73,535,503 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6671:Rb1
|
UTSW |
14 |
73,434,706 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7026:Rb1
|
UTSW |
14 |
73,535,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7103:Rb1
|
UTSW |
14 |
73,500,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7263:Rb1
|
UTSW |
14 |
73,520,363 (GRCm39) |
nonsense |
probably null |
|
|
R7478:Rb1
|
UTSW |
14 |
73,506,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7519:Rb1
|
UTSW |
14 |
73,502,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Rb1
|
UTSW |
14 |
73,435,983 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8323:Rb1
|
UTSW |
14 |
73,503,023 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8809:Rb1
|
UTSW |
14 |
73,503,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8813:Rb1
|
UTSW |
14 |
73,500,027 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8849:Rb1
|
UTSW |
14 |
73,434,709 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9272:Rb1
|
UTSW |
14 |
73,517,602 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9482:Rb1
|
UTSW |
14 |
73,443,493 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9606:Rb1
|
UTSW |
14 |
73,517,573 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCACAAAGTGGTAAACTGGCAG -3'
(R):5'- GCTGCTTGCATAGATGGGAG -3'
Sequencing Primer
(F):5'- CAGTGGCTCTGTGCTCTGC -3'
(R):5'- CTTGCATAGATGGGAGGATTCAG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation