Incidental Mutation 'IGL03265:Bmi1'
| ID |
415039 |
| 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: 0.945)
|
| Stock # |
IGL03265
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
18681953-18691440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 18686672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 17
(M17K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028071]
[ENSMUST00000051929]
[ENSMUST00000134734]
[ENSMUST00000147365]
[ENSMUST00000150834]
[ENSMUST00000156284]
|
| AlphaFold |
P25916 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000028071
AA Change: M17K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: M17K
| 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 |
possibly damaging
Transcript: ENSMUST00000051929
AA Change: M17K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: M17K
| 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 |
possibly damaging
Transcript: ENSMUST00000134734
AA Change: M17K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
AA Change: M17K
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147365
AA Change: M17K
PolyPhen 2
Score 0.516 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739
AA Change: M17K
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150834
AA Change: M17K
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
AA Change: M17K
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000156284
AA Change: M17K
PolyPhen 2
Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: M17K
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
C |
A |
11: 109,943,929 (GRCm39) |
M1113I |
probably benign |
Het |
| Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
| Akr1a1 |
A |
G |
4: 116,495,014 (GRCm39) |
M286T |
probably benign |
Het |
| Anapc1 |
T |
C |
2: 128,469,117 (GRCm39) |
S1575G |
probably damaging |
Het |
| Apba2 |
A |
G |
7: 64,345,071 (GRCm39) |
D87G |
probably damaging |
Het |
| Arhgap21 |
A |
G |
2: 20,854,439 (GRCm39) |
F1641S |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,074,628 (GRCm39) |
H1062Q |
probably benign |
Het |
| Bivm |
A |
G |
1: 44,181,005 (GRCm39) |
R396G |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,102,140 (GRCm39) |
D4777E |
probably benign |
Het |
| Bptf |
T |
C |
11: 106,945,454 (GRCm39) |
N2480S |
probably benign |
Het |
| Cacna2d3 |
T |
C |
14: 28,674,243 (GRCm39) |
E944G |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,075 (GRCm39) |
H236Y |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,568,007 (GRCm39) |
D1863G |
probably benign |
Het |
| Dnajc17 |
C |
A |
2: 119,016,199 (GRCm39) |
E91D |
probably benign |
Het |
| Dus2 |
C |
A |
8: 106,760,423 (GRCm39) |
|
probably benign |
Het |
| Epha6 |
T |
C |
16: 59,880,594 (GRCm39) |
|
probably benign |
Het |
| Erap1 |
A |
T |
13: 74,812,246 (GRCm39) |
T354S |
probably damaging |
Het |
| Fbxo11 |
T |
C |
17: 88,300,259 (GRCm39) |
H851R |
probably damaging |
Het |
| Gm20532 |
G |
A |
2: 26,522,696 (GRCm39) |
C90Y |
unknown |
Het |
| Gpr21 |
T |
C |
2: 37,408,086 (GRCm39) |
Y211H |
probably damaging |
Het |
| Hectd4 |
A |
G |
5: 121,398,002 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
G |
A |
9: 14,972,255 (GRCm39) |
T895I |
probably benign |
Het |
| Hey1 |
T |
C |
3: 8,729,974 (GRCm39) |
Y161C |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,121,433 (GRCm39) |
Y526H |
probably damaging |
Het |
| Lpp |
A |
G |
16: 24,580,737 (GRCm39) |
Y151C |
probably damaging |
Het |
| Macc1 |
A |
G |
12: 119,410,711 (GRCm39) |
N493S |
probably benign |
Het |
| Or2t45 |
T |
C |
11: 58,669,697 (GRCm39) |
V248A |
probably damaging |
Het |
| Or52s6 |
C |
A |
7: 103,091,655 (GRCm39) |
R225L |
probably benign |
Het |
| Or5m10b |
T |
A |
2: 85,699,494 (GRCm39) |
M186K |
possibly damaging |
Het |
| Or5t16 |
T |
A |
2: 86,819,424 (GRCm39) |
Y32F |
probably damaging |
Het |
| Or6c1b |
A |
T |
10: 129,272,794 (GRCm39) |
T38S |
possibly damaging |
Het |
| Pcdhb21 |
A |
G |
18: 37,648,206 (GRCm39) |
D445G |
probably damaging |
Het |
| Prkra |
T |
C |
2: 76,470,614 (GRCm39) |
N123D |
probably benign |
Het |
| Slc25a33 |
A |
C |
4: 149,846,893 (GRCm39) |
L56R |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,155,635 (GRCm39) |
V714A |
possibly damaging |
Het |
| Vmn1r174 |
T |
A |
7: 23,453,898 (GRCm39) |
L188* |
probably null |
Het |
| Vmn2r12 |
A |
G |
5: 109,239,936 (GRCm39) |
V209A |
probably benign |
Het |
| Zfp809 |
A |
G |
9: 22,154,339 (GRCm39) |
Y352C |
probably benign |
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 |
|
IGL02270:Bmi1
|
APN |
2 |
18,689,269 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02801:Bmi1
|
APN |
2 |
18,686,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2016-08-02 |
Incidental Mutation