Incidental Mutation 'R6456:Bmi1'
| ID |
520144 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R6456 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18681953-18691440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 18687058 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 46
(Y46C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118730
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028071]
[ENSMUST00000051929]
[ENSMUST00000134734]
[ENSMUST00000147365]
[ENSMUST00000150834]
[ENSMUST00000156284]
|
| AlphaFold |
P25916 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028071
AA Change: Y46C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: Y46C
| 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 damaging
Transcript: ENSMUST00000051929
AA Change: Y46C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: Y46C
| 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 damaging
Transcript: ENSMUST00000134734
AA Change: Y46C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
AA Change: Y46C
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147365
AA Change: Y46C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739
AA Change: Y46C
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000150834
AA Change: Y46C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
AA Change: Y46C
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000156284
AA Change: Y46C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: Y46C
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
18 |
56 |
4.34e-5 |
SMART |
|
low complexity region
|
146 |
159 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
| Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
| Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
| Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
| Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
| AU040320 |
A |
G |
4: 126,736,284 (GRCm39) |
N789S |
probably benign |
Het |
| Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
| Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
| Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
| Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
| Dhx40 |
G |
A |
11: 86,675,800 (GRCm39) |
T198M |
probably damaging |
Het |
| Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
| Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
| Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
| Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
| H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
| Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
| Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
| Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
| Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
| Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
| Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
| Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
| Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
| Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
| Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
| Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
| Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
| Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
| Rcc1 |
A |
G |
4: 132,061,427 (GRCm39) |
S361P |
probably benign |
Het |
| Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
| Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
| Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
| Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
| Sin3a |
A |
G |
9: 57,020,985 (GRCm39) |
S1004G |
possibly damaging |
Het |
| Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
| Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
| Syne3 |
G |
T |
12: 104,906,963 (GRCm39) |
R775S |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
| Tlk2 |
T |
C |
11: 105,112,099 (GRCm39) |
S151P |
probably benign |
Het |
| Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
| Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
| Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
| Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
| Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGTGTTCGCCTTCTTGGG -3'
(R):5'- AGGTAGGCCTTTCATGTAACAG -3'
Sequencing Primer
(F):5'- CACCATTTCCACATTCCTTGAAAATG -3'
(R):5'- GGCCTTTCATGTAACAGAGAATTCTC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation