Incidental Mutation 'IGL03265:Bmi1'
ID415039
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: 0.959) question?
Stock #IGL03265
Quality Score
Status
Chromosome2
Chromosomal Location18677018-18686629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 18681861 bp
ZygosityHeterozygous
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]
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

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 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

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 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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T A 3: 37,047,991 D4777E probably benign Het
Abca8a C A 11: 110,053,103 M1113I probably benign Het
Acvr1b A G 15: 101,203,078 R374G probably damaging Het
Akr1a1 A G 4: 116,637,817 M286T probably benign Het
Anapc1 T C 2: 128,627,197 S1575G probably damaging Het
Apba2 A G 7: 64,695,323 D87G probably damaging Het
Arhgap21 A G 2: 20,849,628 F1641S probably benign Het
Atad2b T A 12: 5,024,628 H1062Q probably benign Het
Bivm A G 1: 44,141,845 R396G probably damaging Het
Bptf T C 11: 107,054,628 N2480S probably benign Het
Cacna2d3 T C 14: 28,952,286 E944G probably damaging Het
Ces2a C T 8: 104,737,443 H236Y possibly damaging Het
Dnah7a T C 1: 53,528,848 D1863G probably benign Het
Dnajc17 C A 2: 119,185,718 E91D probably benign Het
Dus2 C A 8: 106,033,791 probably benign Het
Epha6 T C 16: 60,060,231 probably benign Het
Erap1 A T 13: 74,664,127 T354S probably damaging Het
Fbxo11 T C 17: 87,992,831 H851R probably damaging Het
Gm20532 G A 2: 26,632,684 C90Y unknown Het
Gpr21 T C 2: 37,518,074 Y211H probably damaging Het
Hectd4 A G 5: 121,259,939 probably benign Het
Hephl1 G A 9: 15,060,959 T895I probably benign Het
Hey1 T C 3: 8,664,914 Y161C probably benign Het
Kdr A G 5: 75,960,773 Y526H probably damaging Het
Lpp A G 16: 24,761,987 Y151C probably damaging Het
Macc1 A G 12: 119,446,976 N493S probably benign Het
Olfr1022 T A 2: 85,869,150 M186K possibly damaging Het
Olfr1101 T A 2: 86,989,080 Y32F probably damaging Het
Olfr315 T C 11: 58,778,871 V248A probably damaging Het
Olfr605 C A 7: 103,442,448 R225L probably benign Het
Olfr786 A T 10: 129,436,925 T38S possibly damaging Het
Pcdhb21 A G 18: 37,515,153 D445G probably damaging Het
Prkra T C 2: 76,640,270 N123D probably benign Het
Slc25a33 A C 4: 149,762,436 L56R probably damaging Het
Usp36 A G 11: 118,264,809 V714A possibly damaging Het
Vmn1r174 T A 7: 23,754,473 L188* probably null Het
Vmn2r12 A G 5: 109,092,070 V209A probably benign Het
Zfp809 A G 9: 22,243,043 Y352C probably benign Het
Other mutations in Bmi1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02133:Bmi1 APN 2 18683677 missense probably damaging 1.00
IGL02270:Bmi1 APN 2 18684458 missense probably benign 0.00
IGL02801:Bmi1 APN 2 18681881 missense probably damaging 1.00
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
R8412:Bmi1 UTSW 2 18684303 missense probably damaging 1.00
X0063:Bmi1 UTSW 2 18682223 missense probably damaging 1.00
Posted On2016-08-02