Incidental Mutation 'IGL01843:Rbl2'
| ID |
178101 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbl2
|
| Ensembl Gene |
ENSMUSG00000031666 |
| Gene Name |
RB transcriptional corepressor like 2 |
| Synonyms |
p130, Rb2, retinoblastoma-like 2 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01843
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
91796685-91850472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91816844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 401
(I401M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147579
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034091]
[ENSMUST00000209518]
[ENSMUST00000211136]
|
| AlphaFold |
Q64700 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034091
AA Change: I444M
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000034091
Gene: ENSMUSG00000031666
AA Change: I444M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
CYCLIN
|
44 |
131 |
5.81e-1 |
SMART |
|
DUF3452
|
94 |
236 |
2.36e-77 |
SMART |
|
low complexity region
|
301 |
313 |
N/A |
INTRINSIC |
|
RB_A
|
414 |
606 |
3.42e-106 |
SMART |
|
low complexity region
|
722 |
733 |
N/A |
INTRINSIC |
|
low complexity region
|
758 |
771 |
N/A |
INTRINSIC |
|
low complexity region
|
776 |
789 |
N/A |
INTRINSIC |
|
low complexity region
|
804 |
818 |
N/A |
INTRINSIC |
|
CYCLIN
|
845 |
1008 |
2.86e-6 |
SMART |
|
Rb_C
|
1019 |
1135 |
5.42e-4 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000209518
AA Change: I444M
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211136
AA Change: I401M
PolyPhen 2
Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Nullizygous mice generally show no overt phenotype. Homozygotes for a null allele show strain-dependent embryonic lethality and growth arrest associated with altered apoptosis and cell proliferation, impaired neurogenesis and myogenesis, failed embryo turning and heart looping, and thin myocardium. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,530,301 (GRCm39) |
|
probably benign |
Het |
| Ap1b1 |
T |
C |
11: 4,989,169 (GRCm39) |
L782P |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,408,765 (GRCm39) |
D1914G |
unknown |
Het |
| C8a |
G |
A |
4: 104,719,808 (GRCm39) |
Q57* |
probably null |
Het |
| Cachd1 |
T |
C |
4: 100,850,069 (GRCm39) |
S1144P |
probably damaging |
Het |
| Cdh23 |
A |
T |
10: 60,255,598 (GRCm39) |
|
probably null |
Het |
| Cenpe |
A |
G |
3: 134,924,268 (GRCm39) |
Q198R |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,453,700 (GRCm39) |
I228V |
probably benign |
Het |
| Cr2 |
A |
T |
1: 194,833,222 (GRCm39) |
|
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,522,395 (GRCm39) |
|
probably benign |
Het |
| Cyp2c23 |
A |
G |
19: 43,994,046 (GRCm39) |
V440A |
probably benign |
Het |
| Dag1 |
T |
C |
9: 108,085,281 (GRCm39) |
D620G |
possibly damaging |
Het |
| Dmxl1 |
T |
A |
18: 50,011,449 (GRCm39) |
L1202* |
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,542,798 (GRCm39) |
H3538P |
probably benign |
Het |
| Dock8 |
A |
T |
19: 25,067,292 (GRCm39) |
Q312L |
probably benign |
Het |
| E2f7 |
T |
G |
10: 110,610,596 (GRCm39) |
V407G |
probably benign |
Het |
| F13b |
T |
C |
1: 139,444,165 (GRCm39) |
S500P |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,039,395 (GRCm39) |
I2002V |
probably benign |
Het |
| Flywch1 |
T |
A |
17: 23,979,319 (GRCm39) |
M439L |
possibly damaging |
Het |
| Gcn1 |
C |
A |
5: 115,757,759 (GRCm39) |
A2488E |
probably damaging |
Het |
| Gria1 |
T |
C |
11: 57,208,600 (GRCm39) |
S832P |
probably damaging |
Het |
| Hnrnpr |
T |
C |
4: 136,066,724 (GRCm39) |
|
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,083,165 (GRCm39) |
I177T |
probably benign |
Het |
| Irgm2 |
G |
A |
11: 58,111,167 (GRCm39) |
G298D |
probably benign |
Het |
| Kcnk7 |
G |
A |
19: 5,756,230 (GRCm39) |
G152D |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,012,654 (GRCm39) |
T620A |
probably benign |
Het |
| Mapk12 |
A |
G |
15: 89,021,669 (GRCm39) |
|
probably benign |
Het |
| Mapk6 |
T |
C |
9: 75,297,572 (GRCm39) |
Y315C |
probably damaging |
Het |
| Mdga2 |
T |
A |
12: 66,769,905 (GRCm39) |
|
probably null |
Het |
| Met |
T |
A |
6: 17,491,700 (GRCm39) |
I154N |
probably damaging |
Het |
| Mtrex |
T |
C |
13: 113,055,095 (GRCm39) |
|
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,328,772 (GRCm39) |
R234G |
possibly damaging |
Het |
| Olfm5 |
C |
A |
7: 103,809,951 (GRCm39) |
V137F |
possibly damaging |
Het |
| Or4d11 |
G |
T |
19: 12,014,041 (GRCm39) |
H22N |
probably benign |
Het |
| Pcdha11 |
C |
T |
18: 37,145,886 (GRCm39) |
T659I |
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,027,187 (GRCm39) |
V620A |
possibly damaging |
Het |
| Rbak |
A |
G |
5: 143,162,355 (GRCm39) |
|
probably benign |
Het |
| Rragc |
T |
C |
4: 123,814,852 (GRCm39) |
S183P |
probably damaging |
Het |
| Septin3 |
A |
G |
15: 82,163,814 (GRCm39) |
|
probably benign |
Het |
| Slc22a6 |
A |
T |
19: 8,603,578 (GRCm39) |
|
probably benign |
Het |
| Spag4 |
A |
T |
2: 155,910,417 (GRCm39) |
T348S |
probably benign |
Het |
| Sptbn1 |
T |
C |
11: 30,054,623 (GRCm39) |
R2157G |
probably benign |
Het |
| Tmem168 |
G |
A |
6: 13,582,940 (GRCm39) |
T263M |
probably damaging |
Het |
| Tnik |
T |
A |
3: 28,625,007 (GRCm39) |
|
probably null |
Het |
| Tnpo2 |
T |
A |
8: 85,777,137 (GRCm39) |
V549E |
probably damaging |
Het |
| Ttll7 |
A |
C |
3: 146,645,776 (GRCm39) |
K545Q |
possibly damaging |
Het |
| Tubgcp5 |
T |
G |
7: 55,449,221 (GRCm39) |
D139E |
probably benign |
Het |
| Vmn1r233 |
T |
A |
17: 21,214,861 (GRCm39) |
N30Y |
probably damaging |
Het |
| Vmn2r25 |
T |
G |
6: 123,829,962 (GRCm39) |
D63A |
possibly damaging |
Het |
| Vmn2r79 |
T |
A |
7: 86,686,485 (GRCm39) |
L622Q |
probably damaging |
Het |
| Vmn2r84 |
T |
C |
10: 130,222,148 (GRCm39) |
M691V |
probably benign |
Het |
| Zc3hc1 |
A |
T |
6: 30,372,729 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rbl2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00832:Rbl2
|
APN |
8 |
91,812,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01084:Rbl2
|
APN |
8 |
91,848,941 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01317:Rbl2
|
APN |
8 |
91,826,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01637:Rbl2
|
APN |
8 |
91,833,066 (GRCm39) |
missense |
probably benign |
|
|
IGL01884:Rbl2
|
APN |
8 |
91,823,464 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02071:Rbl2
|
APN |
8 |
91,828,826 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02588:Rbl2
|
APN |
8 |
91,813,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03027:Rbl2
|
APN |
8 |
91,805,534 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03162:Rbl2
|
APN |
8 |
91,812,330 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03200:Rbl2
|
APN |
8 |
91,823,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0165:Rbl2
|
UTSW |
8 |
91,800,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0238:Rbl2
|
UTSW |
8 |
91,833,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0238:Rbl2
|
UTSW |
8 |
91,833,135 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0317:Rbl2
|
UTSW |
8 |
91,813,772 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0539:Rbl2
|
UTSW |
8 |
91,839,133 (GRCm39) |
splice site |
probably benign |
|
|
R1532:Rbl2
|
UTSW |
8 |
91,833,045 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1696:Rbl2
|
UTSW |
8 |
91,812,352 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1852:Rbl2
|
UTSW |
8 |
91,822,191 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R1866:Rbl2
|
UTSW |
8 |
91,839,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1975:Rbl2
|
UTSW |
8 |
91,812,090 (GRCm39) |
missense |
probably benign |
|
|
R2062:Rbl2
|
UTSW |
8 |
91,833,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2180:Rbl2
|
UTSW |
8 |
91,816,683 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R2423:Rbl2
|
UTSW |
8 |
91,813,774 (GRCm39) |
missense |
probably benign |
0.34 |
|
R3109:Rbl2
|
UTSW |
8 |
91,828,863 (GRCm39) |
missense |
probably benign |
|
|
R4356:Rbl2
|
UTSW |
8 |
91,833,735 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4692:Rbl2
|
UTSW |
8 |
91,849,047 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4707:Rbl2
|
UTSW |
8 |
91,812,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4784:Rbl2
|
UTSW |
8 |
91,812,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5084:Rbl2
|
UTSW |
8 |
91,841,759 (GRCm39) |
missense |
probably benign |
0.43 |
|
R5432:Rbl2
|
UTSW |
8 |
91,828,911 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5493:Rbl2
|
UTSW |
8 |
91,842,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5546:Rbl2
|
UTSW |
8 |
91,805,560 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5918:Rbl2
|
UTSW |
8 |
91,816,758 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6186:Rbl2
|
UTSW |
8 |
91,833,358 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6257:Rbl2
|
UTSW |
8 |
91,842,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6526:Rbl2
|
UTSW |
8 |
91,823,467 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6546:Rbl2
|
UTSW |
8 |
91,796,998 (GRCm39) |
missense |
probably benign |
|
|
R6714:Rbl2
|
UTSW |
8 |
91,833,415 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7214:Rbl2
|
UTSW |
8 |
91,810,057 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7286:Rbl2
|
UTSW |
8 |
91,828,922 (GRCm39) |
nonsense |
probably null |
|
|
R7290:Rbl2
|
UTSW |
8 |
91,841,669 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7315:Rbl2
|
UTSW |
8 |
91,802,640 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7524:Rbl2
|
UTSW |
8 |
91,841,821 (GRCm39) |
missense |
probably benign |
|
|
R8060:Rbl2
|
UTSW |
8 |
91,823,497 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8071:Rbl2
|
UTSW |
8 |
91,840,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8154:Rbl2
|
UTSW |
8 |
91,833,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8302:Rbl2
|
UTSW |
8 |
91,812,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8344:Rbl2
|
UTSW |
8 |
91,842,387 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R8724:Rbl2
|
UTSW |
8 |
91,841,837 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8822:Rbl2
|
UTSW |
8 |
91,833,346 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9186:Rbl2
|
UTSW |
8 |
91,828,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9729:Rbl2
|
UTSW |
8 |
91,805,527 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9801:Rbl2
|
UTSW |
8 |
91,822,229 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0023:Rbl2
|
UTSW |
8 |
91,816,707 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2014-05-07 |
Incidental Mutation