Incidental Mutation 'IGL02270:Bmi1'
ID287089
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bmi1
Ensembl Gene ENSMUSG00000026739
Gene NameBmi1 polycomb ring finger oncogene
SynonymsBmi1, Bmi-1, Pcgf4
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.954) question?
Stock #IGL02270
Quality Score
Status
Chromosome2
Chromosomal Location18677018-18686629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 18684458 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147365
SMART Domains Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150834
SMART Domains Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 T C 13: 81,559,195 probably null Het
Cntnap5c G A 17: 58,034,853 V180I probably benign Het
Cyp2b10 A G 7: 25,913,937 E186G probably damaging Het
Ddx25 G T 9: 35,554,412 probably benign Het
Dis3 A G 14: 99,078,354 F901L probably benign Het
Dnah7a T A 1: 53,472,893 N3003I possibly damaging Het
Ebf2 A G 14: 67,238,953 D124G probably damaging Het
Efcab5 A T 11: 77,104,313 I1144N probably damaging Het
Exoc4 G A 6: 33,580,026 V489I possibly damaging Het
Garem1 A G 18: 21,148,450 V283A probably damaging Het
Gfra2 G A 14: 70,925,907 R210H possibly damaging Het
Gli3 T C 13: 15,726,786 probably benign Het
Gm7247 A T 14: 51,521,884 M107L probably benign Het
Map2k5 A T 9: 63,322,197 probably null Het
Mki67 C T 7: 135,698,632 D1558N probably damaging Het
Mylk4 A G 13: 32,729,066 probably benign Het
Olfr1 A G 11: 73,395,365 V219A probably benign Het
Olfr112 G T 17: 37,563,580 H244N possibly damaging Het
Olfr2 A T 7: 107,001,423 C146S probably damaging Het
Olfr669 A G 7: 104,939,369 N281S possibly damaging Het
Plcd1 T C 9: 119,084,641 T50A probably damaging Het
Rasgrp3 A G 17: 75,516,373 R480G probably benign Het
Ripor3 T C 2: 167,993,496 E185G probably damaging Het
S1pr3 T C 13: 51,419,056 I91T probably benign Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Slc28a3 T C 13: 58,580,584 T104A probably benign Het
Slc6a11 A G 6: 114,238,396 D419G probably damaging Het
St3gal2 A G 8: 110,957,766 I19V probably benign Het
Sycp1 C A 3: 102,895,943 C517F probably benign Het
Trav15-1-dv6-1 G A 14: 53,559,998 E35K possibly damaging Het
Vmn1r121 T C 7: 21,098,476 E13G probably damaging Het
Vmn1r199 T A 13: 22,383,006 S114T probably damaging Het
Vmn2r-ps159 T C 4: 156,334,655 noncoding transcript Het
Other mutations in Bmi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Bmi1 APN 2 18683677 missense probably damaging 1.00
IGL02801:Bmi1 APN 2 18681881 missense probably damaging 1.00
IGL03265:Bmi1 APN 2 18681861 missense possibly damaging 0.53
PIT4280001:Bmi1 UTSW 2 18683009 nonsense probably null
PIT4434001:Bmi1 UTSW 2 18684231 missense probably benign 0.10
R0142:Bmi1 UTSW 2 18683284 critical splice donor site probably null
R0411:Bmi1 UTSW 2 18683172 splice site probably benign
R0504:Bmi1 UTSW 2 18684072 splice site probably null
R1926:Bmi1 UTSW 2 18682273 missense probably benign 0.02
R2070:Bmi1 UTSW 2 18684040 missense probably benign 0.01
R2238:Bmi1 UTSW 2 18683414 splice site probably benign
R2412:Bmi1 UTSW 2 18683714 missense probably damaging 1.00
R4915:Bmi1 UTSW 2 18682332 splice site probably benign
R5514:Bmi1 UTSW 2 18681903 missense probably damaging 0.98
R6222:Bmi1 UTSW 2 18683702 missense possibly damaging 0.88
R6320:Bmi1 UTSW 2 18684375 missense probably benign 0.00
R6456:Bmi1 UTSW 2 18682247 missense probably damaging 1.00
R6757:Bmi1 UTSW 2 18684029 missense probably damaging 1.00
R7310:Bmi1 UTSW 2 18684419 missense probably benign
X0063:Bmi1 UTSW 2 18682223 missense probably damaging 1.00
Posted On2015-04-16