Incidental Mutation 'R1603:Rbl1'
| ID |
176237 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbl1
|
| Ensembl Gene |
ENSMUSG00000027641 |
| Gene Name |
RB transcriptional corepressor like 1 |
| Synonyms |
retinoblastoma-like 1 (p107), p107 |
| MMRRC Submission |
039640-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1603 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
156987813-157046454 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 157017579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 547
(L547F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029170
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029170]
|
| AlphaFold |
Q64701 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029170
AA Change: L547F
PolyPhen 2
Score 0.750 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000029170
Gene: ENSMUSG00000027641
AA Change: L547F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
28 |
N/A |
INTRINSIC |
|
DUF3452
|
70 |
212 |
5.14e-78 |
SMART |
|
RB_A
|
385 |
578 |
9.58e-119 |
SMART |
|
low complexity region
|
706 |
719 |
N/A |
INTRINSIC |
|
CYCLIN
|
800 |
934 |
8.68e-6 |
SMART |
|
Rb_C
|
947 |
1063 |
2.29e-11 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154721
|
| Meta Mutation Damage Score |
0.8946 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.4%
- 20x: 89.3%
|
| Validation Efficiency |
96% (65/68) |
| 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 similar in sequence and possibly function to the product of the retinoblastoma 1 (RB1) gene. The RB1 gene product is a tumor suppressor protein that appears to be involved in cell cycle regulation, as it is phosphorylated in the S to M phase transition and is dephosphorylated in the G1 phase of the cell cycle. Both the RB1 protein and the product of this gene can form a complex with adenovirus E1A protein and SV40 large T-antigen, with the SV40 large T-antigen binding only to the unphosphorylated form of each protein. In addition, both proteins can inhibit the transcription of cell cycle genes containing E2F binding sites in their promoters. Due to the sequence and biochemical similarities with the RB1 protein, it is thought that the protein encoded by this gene may also be a tumor suppressor. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are viable and fertile, but may show impaired growth, myeloid hyperplasia in spleen and liver and give rise to cells with a 2X doubling time in vitro. These effects are genetic background dependent. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110032F04Rik |
G |
A |
3: 68,777,546 (GRCm39) |
S169N |
probably benign |
Het |
| Ace |
T |
A |
11: 105,862,925 (GRCm39) |
S315R |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,333,767 (GRCm39) |
I1491V |
probably benign |
Het |
| Adrb2 |
A |
T |
18: 62,312,579 (GRCm39) |
M82K |
probably damaging |
Het |
| Aebp2 |
A |
G |
6: 140,587,979 (GRCm39) |
N350D |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,268,899 (GRCm39) |
|
probably benign |
Het |
| Asap1 |
A |
T |
15: 64,001,106 (GRCm39) |
C492S |
probably damaging |
Het |
| Atp8b3 |
C |
A |
10: 80,361,619 (GRCm39) |
A768S |
probably benign |
Het |
| Chga |
T |
A |
12: 102,530,866 (GRCm39) |
|
probably null |
Het |
| Clca4b |
A |
G |
3: 144,627,780 (GRCm39) |
V397A |
probably benign |
Het |
| Cntnap5a |
A |
C |
1: 116,339,831 (GRCm39) |
T697P |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,520,244 (GRCm39) |
Q2810R |
probably damaging |
Het |
| Dchs1 |
G |
T |
7: 105,411,977 (GRCm39) |
R1380S |
probably benign |
Het |
| Dgkg |
T |
A |
16: 22,388,909 (GRCm39) |
|
probably benign |
Het |
| Dlgap3 |
G |
A |
4: 127,089,021 (GRCm39) |
G206R |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,295,131 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
A |
T |
15: 28,449,326 (GRCm39) |
I4243L |
probably benign |
Het |
| Eif1ad16 |
C |
A |
12: 87,985,134 (GRCm39) |
E136D |
probably benign |
Het |
| Fbxw22 |
G |
T |
9: 109,207,915 (GRCm39) |
P452H |
probably benign |
Het |
| Fgl1 |
T |
A |
8: 41,650,055 (GRCm39) |
D242V |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,567,823 (GRCm39) |
G794R |
probably damaging |
Het |
| Gimap7 |
A |
T |
6: 48,700,864 (GRCm39) |
D150V |
probably damaging |
Het |
| Gm5334 |
T |
C |
7: 68,268,620 (GRCm39) |
V13A |
probably benign |
Het |
| Grk5 |
T |
C |
19: 61,057,800 (GRCm39) |
F167L |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,751,472 (GRCm39) |
L1538P |
probably benign |
Het |
| Idh2 |
T |
G |
7: 79,748,906 (GRCm39) |
E125A |
probably damaging |
Het |
| Kmt2a |
A |
T |
9: 44,752,858 (GRCm39) |
|
probably null |
Het |
| Kras |
A |
T |
6: 145,170,871 (GRCm39) |
L168* |
probably null |
Het |
| Lrrc66 |
G |
A |
5: 73,764,769 (GRCm39) |
S758L |
possibly damaging |
Het |
| Mak |
T |
C |
13: 41,195,582 (GRCm39) |
D377G |
possibly damaging |
Het |
| Matn2 |
T |
C |
15: 34,388,914 (GRCm39) |
C335R |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 145,885,977 (GRCm39) |
S276F |
probably damaging |
Het |
| Morc3 |
C |
A |
16: 93,663,391 (GRCm39) |
N531K |
probably benign |
Het |
| Obp2a |
G |
A |
2: 25,592,757 (GRCm39) |
S175N |
probably benign |
Het |
| Or2ak6 |
T |
C |
11: 58,593,286 (GRCm39) |
V253A |
probably benign |
Het |
| Or4n4b |
T |
G |
14: 50,536,491 (GRCm39) |
I92L |
possibly damaging |
Het |
| Or5an1b |
A |
T |
19: 12,299,348 (GRCm39) |
V281E |
probably damaging |
Het |
| Osbpl3 |
C |
A |
6: 50,300,073 (GRCm39) |
K510N |
probably damaging |
Het |
| Pcnx2 |
G |
A |
8: 126,566,365 (GRCm39) |
S1026F |
probably damaging |
Het |
| Pom121l2 |
A |
T |
13: 22,167,514 (GRCm39) |
D595V |
probably damaging |
Het |
| Poteg |
T |
A |
8: 27,938,033 (GRCm39) |
M1K |
probably null |
Het |
| Rpap3 |
T |
C |
15: 97,599,002 (GRCm39) |
T82A |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,867,959 (GRCm39) |
D512N |
probably benign |
Het |
| Sgpl1 |
C |
T |
10: 60,941,230 (GRCm39) |
V294M |
possibly damaging |
Het |
| Slc22a28 |
A |
G |
19: 8,040,674 (GRCm39) |
S526P |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,650 (GRCm39) |
R177W |
probably damaging |
Het |
| Tent2 |
G |
A |
13: 93,312,073 (GRCm39) |
A209V |
probably benign |
Het |
| Trim30b |
T |
G |
7: 104,015,019 (GRCm39) |
Q123P |
possibly damaging |
Het |
| Trpm5 |
A |
G |
7: 142,638,946 (GRCm39) |
L275P |
probably benign |
Het |
| Ttc33 |
A |
G |
15: 5,219,275 (GRCm39) |
E71G |
probably damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,481 (GRCm39) |
T288A |
possibly damaging |
Het |
| Unc93a |
T |
A |
17: 13,328,521 (GRCm39) |
E444V |
probably benign |
Het |
| Usf3 |
T |
A |
16: 44,038,535 (GRCm39) |
M1005K |
probably benign |
Het |
| Vmn2r91 |
T |
C |
17: 18,326,405 (GRCm39) |
I230T |
probably benign |
Het |
| Wdr49 |
G |
A |
3: 75,304,177 (GRCm39) |
Q448* |
probably null |
Het |
| Zfp939 |
T |
A |
7: 39,122,695 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Rbl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01413:Rbl1
|
APN |
2 |
156,994,812 (GRCm39) |
splice site |
probably null |
|
|
IGL01418:Rbl1
|
APN |
2 |
156,994,812 (GRCm39) |
splice site |
probably null |
|
|
IGL01597:Rbl1
|
APN |
2 |
157,037,369 (GRCm39) |
splice site |
probably benign |
|
|
IGL01788:Rbl1
|
APN |
2 |
157,005,576 (GRCm39) |
missense |
probably benign |
0.15 |
|
IGL02366:Rbl1
|
APN |
2 |
157,016,813 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL02527:Rbl1
|
APN |
2 |
157,035,968 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02720:Rbl1
|
APN |
2 |
157,041,349 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02828:Rbl1
|
APN |
2 |
157,041,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02926:Rbl1
|
APN |
2 |
157,009,333 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02968:Rbl1
|
APN |
2 |
157,019,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03284:Rbl1
|
APN |
2 |
157,035,989 (GRCm39) |
splice site |
probably benign |
|
|
R0042:Rbl1
|
UTSW |
2 |
157,017,624 (GRCm39) |
splice site |
probably benign |
|
|
R0089:Rbl1
|
UTSW |
2 |
157,041,334 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0173:Rbl1
|
UTSW |
2 |
157,001,605 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0464:Rbl1
|
UTSW |
2 |
156,989,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1178:Rbl1
|
UTSW |
2 |
156,989,575 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1296:Rbl1
|
UTSW |
2 |
157,011,891 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1430:Rbl1
|
UTSW |
2 |
157,011,826 (GRCm39) |
missense |
probably benign |
|
|
R1445:Rbl1
|
UTSW |
2 |
157,035,018 (GRCm39) |
missense |
probably benign |
|
|
R1511:Rbl1
|
UTSW |
2 |
157,037,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1666:Rbl1
|
UTSW |
2 |
157,001,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1668:Rbl1
|
UTSW |
2 |
157,001,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1680:Rbl1
|
UTSW |
2 |
157,016,703 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1771:Rbl1
|
UTSW |
2 |
157,005,454 (GRCm39) |
splice site |
probably null |
|
|
R1833:Rbl1
|
UTSW |
2 |
157,037,475 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1852:Rbl1
|
UTSW |
2 |
157,016,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2304:Rbl1
|
UTSW |
2 |
156,989,551 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3552:Rbl1
|
UTSW |
2 |
157,037,505 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3605:Rbl1
|
UTSW |
2 |
157,019,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3607:Rbl1
|
UTSW |
2 |
157,019,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4160:Rbl1
|
UTSW |
2 |
157,034,039 (GRCm39) |
intron |
probably benign |
|
|
R4423:Rbl1
|
UTSW |
2 |
157,010,875 (GRCm39) |
intron |
probably benign |
|
|
R4636:Rbl1
|
UTSW |
2 |
157,009,340 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4780:Rbl1
|
UTSW |
2 |
157,016,724 (GRCm39) |
missense |
probably benign |
0.43 |
|
R4789:Rbl1
|
UTSW |
2 |
157,019,275 (GRCm39) |
missense |
probably benign |
|
|
R5145:Rbl1
|
UTSW |
2 |
157,017,397 (GRCm39) |
intron |
probably benign |
|
|
R5802:Rbl1
|
UTSW |
2 |
157,003,353 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5851:Rbl1
|
UTSW |
2 |
157,009,245 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6742:Rbl1
|
UTSW |
2 |
157,011,918 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6861:Rbl1
|
UTSW |
2 |
156,994,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6943:Rbl1
|
UTSW |
2 |
157,030,206 (GRCm39) |
missense |
probably benign |
|
|
R7090:Rbl1
|
UTSW |
2 |
156,994,820 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7176:Rbl1
|
UTSW |
2 |
157,030,245 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Rbl1
|
UTSW |
2 |
157,033,900 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8032:Rbl1
|
UTSW |
2 |
157,029,918 (GRCm39) |
nonsense |
probably null |
|
|
R8544:Rbl1
|
UTSW |
2 |
157,035,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8552:Rbl1
|
UTSW |
2 |
157,038,174 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8802:Rbl1
|
UTSW |
2 |
157,038,073 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8902:Rbl1
|
UTSW |
2 |
157,041,420 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9032:Rbl1
|
UTSW |
2 |
157,035,073 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9401:Rbl1
|
UTSW |
2 |
157,016,742 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9420:Rbl1
|
UTSW |
2 |
157,035,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9747:Rbl1
|
UTSW |
2 |
157,033,966 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0057:Rbl1
|
UTSW |
2 |
157,030,249 (GRCm39) |
nonsense |
probably null |
|
|
X0058:Rbl1
|
UTSW |
2 |
157,016,733 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTAGCCCTGGCTTACTTCTTCACAG -3'
(R):5'- GAACACAGGACCTTGCACATCGTAGATA -3'
Sequencing Primer
(F):5'- CTTACTTCTTCACAGGAAGGGAC -3'
(R):5'- gggggggggagaagagg -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation