Incidental Mutation 'PIT4434001:Bmi1'
| ID |
555045 |
| 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: 0.947)
|
| Stock # |
PIT4434001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
18681953-18691440 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 18689042 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 242
(T242M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028071]
[ENSMUST00000051929]
[ENSMUST00000134734]
[ENSMUST00000147365]
[ENSMUST00000150834]
[ENSMUST00000156284]
|
| AlphaFold |
P25916 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028071
AA Change: T242M
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: T242M
| 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: T242M
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: T242M
| 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 |
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 |
- 1x: 93.3%
- 3x: 90.6%
- 10x: 84.3%
- 20x: 70.6%
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030468B19Rik |
T |
A |
11: 117,696,869 (GRCm39) |
D196E |
probably benign |
Het |
| Abcb5 |
G |
A |
12: 118,854,422 (GRCm39) |
S831F |
probably damaging |
Het |
| Alg2 |
C |
A |
4: 47,474,076 (GRCm39) |
A71S |
probably benign |
Het |
| Ankrd50 |
T |
C |
3: 38,509,412 (GRCm39) |
Q62R |
possibly damaging |
Het |
| Ano1 |
A |
G |
7: 144,164,632 (GRCm39) |
V664A |
probably benign |
Het |
| Bbox1 |
A |
C |
2: 110,105,979 (GRCm39) |
D188E |
probably benign |
Het |
| C4bp |
A |
G |
1: 130,584,947 (GRCm39) |
F30L |
probably benign |
Het |
| Carmil3 |
A |
G |
14: 55,732,145 (GRCm39) |
N214S |
probably null |
Het |
| Cep162 |
C |
A |
9: 87,075,701 (GRCm39) |
K1310N |
probably damaging |
Het |
| Cfap74 |
G |
A |
4: 155,548,421 (GRCm39) |
V21M |
unknown |
Het |
| Copa |
A |
G |
1: 171,933,742 (GRCm39) |
D401G |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,125,104 (GRCm39) |
V439A |
possibly damaging |
Het |
| Ddhd1 |
A |
C |
14: 45,848,062 (GRCm39) |
N569K |
possibly damaging |
Het |
| Dennd5a |
A |
G |
7: 109,532,831 (GRCm39) |
L313P |
probably damaging |
Het |
| Eri2 |
A |
G |
7: 119,385,524 (GRCm39) |
F326L |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,068,276 (GRCm39) |
H864Q |
probably benign |
Het |
| Fat3 |
C |
T |
9: 15,907,612 (GRCm39) |
V2797I |
probably benign |
Het |
| Fbn2 |
T |
C |
18: 58,229,134 (GRCm39) |
D692G |
probably damaging |
Het |
| Fbxw20 |
A |
G |
9: 109,052,500 (GRCm39) |
S278P |
probably damaging |
Het |
| Gna12 |
A |
T |
5: 140,746,773 (GRCm39) |
V224E |
probably damaging |
Het |
| Grn |
C |
T |
11: 102,326,766 (GRCm39) |
H482Y |
possibly damaging |
Het |
| Igkv7-33 |
A |
G |
6: 70,035,797 (GRCm39) |
Y62H |
possibly damaging |
Het |
| Kdm4c |
A |
G |
4: 74,189,569 (GRCm39) |
T95A |
probably benign |
Het |
| Lrp3 |
T |
C |
7: 34,903,420 (GRCm39) |
T309A |
probably damaging |
Het |
| Map3k2 |
C |
A |
18: 32,343,088 (GRCm39) |
D279E |
possibly damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,003 (GRCm39) |
V358E |
probably damaging |
Het |
| Mcpt9 |
A |
G |
14: 56,266,686 (GRCm39) |
S14P |
probably benign |
Het |
| Or10b1 |
T |
C |
10: 78,355,549 (GRCm39) |
F36L |
possibly damaging |
Het |
| Or51a8 |
T |
C |
7: 102,549,837 (GRCm39) |
F88L |
probably benign |
Het |
| Or52a33 |
A |
C |
7: 103,289,054 (GRCm39) |
C98G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,047,776 (GRCm39) |
R45H |
probably damaging |
Het |
| Pcdhb17 |
A |
G |
18: 37,618,704 (GRCm39) |
N165D |
probably damaging |
Het |
| Pogz |
A |
G |
3: 94,779,681 (GRCm39) |
T538A |
probably damaging |
Het |
| Prlr |
A |
G |
15: 10,328,458 (GRCm39) |
E311G |
probably damaging |
Het |
| Ptprs |
T |
C |
17: 56,761,984 (GRCm39) |
I43V |
probably null |
Het |
| Raet1d |
A |
T |
10: 22,247,433 (GRCm39) |
K170* |
probably null |
Het |
| Rufy2 |
A |
T |
10: 62,826,845 (GRCm39) |
Q128L |
possibly damaging |
Het |
| Svopl |
T |
C |
6: 37,991,801 (GRCm39) |
N360D |
possibly damaging |
Het |
| Syt4 |
A |
C |
18: 31,573,384 (GRCm39) |
L377W |
probably damaging |
Het |
| Taar7a |
A |
G |
10: 23,869,319 (GRCm39) |
F21L |
probably benign |
Het |
| Tax1bp3 |
T |
A |
11: 73,071,630 (GRCm39) |
M78K |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,423,780 (GRCm38) |
|
probably null |
Het |
| Trim52 |
A |
T |
14: 106,344,732 (GRCm39) |
D130V |
probably benign |
Het |
| Ttc1 |
T |
C |
11: 43,635,955 (GRCm39) |
Y96C |
probably damaging |
Het |
| Vmn2r49 |
T |
C |
7: 9,710,762 (GRCm39) |
T657A |
probably damaging |
Het |
| Vps13d |
A |
T |
4: 144,881,817 (GRCm39) |
F1259I |
|
Het |
| Zbtb18 |
A |
T |
1: 177,275,989 (GRCm39) |
T441S |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCTACATTTATACCTGGAGAAG -3'
(R):5'- TTCGAGGTCTACTGGCAAAGG -3'
Sequencing Primer
(F):5'- AGAGTAAGTAGCTCGTTACCTGG -3'
(R):5'- TCTACTGGCAAAGGAAGATTGGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation