Incidental Mutation 'IGL02270:Bmi1'
| ID |
287089 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Bmi1
|
| Ensembl Gene |
ENSMUSG00000026739 |
| Gene Name |
Bmi1 polycomb ring finger oncogene |
| Synonyms |
Pcgf4, Bmi-1, Bmi1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
IGL02270
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18681953-18691440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18689269 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 318
(S318T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110300
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028071]
[ENSMUST00000051929]
[ENSMUST00000134734]
[ENSMUST00000147365]
[ENSMUST00000150834]
[ENSMUST00000156284]
|
| AlphaFold |
P25916 |
| PDB Structure |
RING1B-BMI1 E3 CATALYTIC DOMAIN STRUCTURE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028071
AA Change: S318T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: S318T
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
low complexity region
|
264 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000051929
AA Change: S318T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: S318T
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
Pfam:RAWUL
|
142 |
224 |
1.5e-27 |
PFAM |
|
low complexity region
|
264 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
313 |
323 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132014
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134734
|
| SMART Domains |
Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147365
|
| SMART Domains |
Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150834
|
| SMART Domains |
Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156284
|
| SMART Domains |
Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus represents naturally occurring read-through transcription between the neighboring COMM domain-containing protein 3 and polycomb complex protein BMI-1 genes on chromosome 10. The read-through transcript produces a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Feb 2011]
PHENOTYPE: Homozygous null mutants display decreased hematopoietic cell number, immune deficiency, neurological abnormalities, and posterior transformation, while transgenic overexpressing mice show an opposite dose-dependent anterior transformation of vertebral identity. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
T |
C |
13: 81,707,314 (GRCm39) |
|
probably null |
Het |
| Cntnap5c |
G |
A |
17: 58,341,848 (GRCm39) |
V180I |
probably benign |
Het |
| Cyp2b10 |
A |
G |
7: 25,613,362 (GRCm39) |
E186G |
probably damaging |
Het |
| Ddx25 |
G |
T |
9: 35,465,708 (GRCm39) |
|
probably benign |
Het |
| Dis3 |
A |
G |
14: 99,315,790 (GRCm39) |
F901L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,512,052 (GRCm39) |
N3003I |
possibly damaging |
Het |
| Ebf2 |
A |
G |
14: 67,476,402 (GRCm39) |
D124G |
probably damaging |
Het |
| Efcab5 |
A |
T |
11: 76,995,139 (GRCm39) |
I1144N |
probably damaging |
Het |
| Exoc4 |
G |
A |
6: 33,556,961 (GRCm39) |
V489I |
possibly damaging |
Het |
| Garem1 |
A |
G |
18: 21,281,507 (GRCm39) |
V283A |
probably damaging |
Het |
| Gfra2 |
G |
A |
14: 71,163,347 (GRCm39) |
R210H |
possibly damaging |
Het |
| Gli3 |
T |
C |
13: 15,901,371 (GRCm39) |
|
probably benign |
Het |
| Gm7247 |
A |
T |
14: 51,759,341 (GRCm39) |
M107L |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,229,479 (GRCm39) |
|
probably null |
Het |
| Mki67 |
C |
T |
7: 135,300,361 (GRCm39) |
D1558N |
probably damaging |
Het |
| Mylk4 |
A |
G |
13: 32,913,049 (GRCm39) |
|
probably benign |
Het |
| Or14j9 |
G |
T |
17: 37,874,471 (GRCm39) |
H244N |
possibly damaging |
Het |
| Or1e16 |
A |
G |
11: 73,286,191 (GRCm39) |
V219A |
probably benign |
Het |
| Or52n5 |
A |
G |
7: 104,588,576 (GRCm39) |
N281S |
possibly damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,630 (GRCm39) |
C146S |
probably damaging |
Het |
| Plcd1 |
T |
C |
9: 118,913,709 (GRCm39) |
T50A |
probably damaging |
Het |
| Rasgrp3 |
A |
G |
17: 75,823,368 (GRCm39) |
R480G |
probably benign |
Het |
| Ripor3 |
T |
C |
2: 167,835,416 (GRCm39) |
E185G |
probably damaging |
Het |
| S1pr3 |
T |
C |
13: 51,573,092 (GRCm39) |
I91T |
probably benign |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Slc28a3 |
T |
C |
13: 58,728,398 (GRCm39) |
T104A |
probably benign |
Het |
| Slc6a11 |
A |
G |
6: 114,215,357 (GRCm39) |
D419G |
probably damaging |
Het |
| St3gal2 |
A |
G |
8: 111,684,398 (GRCm39) |
I19V |
probably benign |
Het |
| Sycp1 |
C |
A |
3: 102,803,259 (GRCm39) |
C517F |
probably benign |
Het |
| Trav15-1-dv6-1 |
G |
A |
14: 53,797,455 (GRCm39) |
E35K |
possibly damaging |
Het |
| Vmn1r121 |
T |
C |
7: 20,832,401 (GRCm39) |
E13G |
probably damaging |
Het |
| Vmn1r199 |
T |
A |
13: 22,567,176 (GRCm39) |
S114T |
probably damaging |
Het |
| Vmn2r129 |
T |
C |
4: 156,686,950 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Bmi1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02133:Bmi1
|
APN |
2 |
18,688,488 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02801:Bmi1
|
APN |
2 |
18,686,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03265:Bmi1
|
APN |
2 |
18,686,672 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
PIT4280001:Bmi1
|
UTSW |
2 |
18,687,820 (GRCm39) |
nonsense |
probably null |
|
|
PIT4434001:Bmi1
|
UTSW |
2 |
18,689,042 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0142:Bmi1
|
UTSW |
2 |
18,688,095 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0411:Bmi1
|
UTSW |
2 |
18,687,983 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Bmi1
|
UTSW |
2 |
18,688,883 (GRCm39) |
splice site |
probably null |
|
|
R1926:Bmi1
|
UTSW |
2 |
18,687,084 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2070:Bmi1
|
UTSW |
2 |
18,688,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2238:Bmi1
|
UTSW |
2 |
18,688,225 (GRCm39) |
splice site |
probably benign |
|
|
R2412:Bmi1
|
UTSW |
2 |
18,688,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4915:Bmi1
|
UTSW |
2 |
18,687,143 (GRCm39) |
splice site |
probably benign |
|
|
R5514:Bmi1
|
UTSW |
2 |
18,686,714 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6222:Bmi1
|
UTSW |
2 |
18,688,513 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6320:Bmi1
|
UTSW |
2 |
18,689,186 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6456:Bmi1
|
UTSW |
2 |
18,687,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6757:Bmi1
|
UTSW |
2 |
18,688,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7310:Bmi1
|
UTSW |
2 |
18,689,230 (GRCm39) |
missense |
probably benign |
|
|
R8412:Bmi1
|
UTSW |
2 |
18,689,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9211:Bmi1
|
UTSW |
2 |
18,689,152 (GRCm39) |
missense |
probably benign |
0.02 |
|
X0063:Bmi1
|
UTSW |
2 |
18,687,034 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation