Incidental Mutation 'IGL02801:Bmi1'
ID360173
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 #IGL02801
Quality Score
Status
Chromosome2
Chromosomal Location18677018-18686629 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 18681881 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 24 (Y24H)
Ref Sequence ENSEMBL: ENSMUSP00000118730 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000051929] [ENSMUST00000134734] [ENSMUST00000147365] [ENSMUST00000150834] [ENSMUST00000156284]
Predicted Effect probably damaging
Transcript: ENSMUST00000028071
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: Y24H

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 damaging
Transcript: ENSMUST00000051929
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: Y24H

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 damaging
Transcript: ENSMUST00000134734
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
AA Change: Y24H

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147365
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739
AA Change: Y24H

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150834
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
AA Change: Y24H

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
low complexity region 146 159 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000156284
AA Change: Y24H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: Y24H

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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap5 A T 12: 76,328,995 K400N probably benign Het
Aox2 A T 1: 58,354,177 I1193F probably damaging Het
Arhgef16 A T 4: 154,291,507 L10Q probably damaging Het
Arl10 T C 13: 54,575,883 V106A probably benign Het
Cd163 T A 6: 124,320,529 I878K probably benign Het
Col12a1 A G 9: 79,608,414 probably null Het
Csmd2 T C 4: 128,552,075 probably null Het
Dcp2 G T 18: 44,417,711 M417I probably damaging Het
Ddx11 T A 17: 66,148,033 C662S probably benign Het
Dhx29 G A 13: 112,964,646 C1241Y probably damaging Het
Dnajc6 C T 4: 101,597,813 P37L probably benign Het
Dqx1 A G 6: 83,060,495 probably null Het
Dzip1 T A 14: 118,885,655 K643* probably null Het
Ecel1 A G 1: 87,152,003 S463P probably damaging Het
Eml5 A G 12: 98,817,845 V1361A possibly damaging Het
Fads2 C A 19: 10,082,645 A222S possibly damaging Het
Fancd2 A G 6: 113,593,317 N1410D probably benign Het
Fbxw16 A G 9: 109,441,076 F199S possibly damaging Het
Frem2 A G 3: 53,652,175 V1637A possibly damaging Het
Gabrg2 A G 11: 41,912,393 S442P probably damaging Het
Gprin3 T C 6: 59,354,981 T114A possibly damaging Het
Hoxd8 A G 2: 74,706,568 E27G probably damaging Het
Isl2 A G 9: 55,545,532 probably null Het
Lamc2 T A 1: 153,136,783 H715L probably benign Het
Lrif1 T C 3: 106,734,614 V102A possibly damaging Het
Lrrc39 A G 3: 116,578,346 N254S possibly damaging Het
Med13l T C 5: 118,745,113 W1346R probably damaging Het
Melk T C 4: 44,360,930 I570T probably damaging Het
Mlkl G A 8: 111,316,432 T361M probably benign Het
Myo1f T A 17: 33,578,137 M94K probably damaging Het
Naip1 A G 13: 100,444,368 C124R probably damaging Het
Nek1 G A 8: 61,121,061 probably null Het
Nrn1 C A 13: 36,730,106 probably null Het
Pde1c G T 6: 56,173,666 N289K probably damaging Het
Pfas G A 11: 68,988,277 probably benign Het
Pms2 A T 5: 143,925,835 I587F probably benign Het
Ppargc1b T C 18: 61,307,684 E721G possibly damaging Het
Ppp2r1b A G 9: 50,878,827 I435V probably benign Het
Psip1 C T 4: 83,458,120 S494N probably benign Het
Ranbp3 T C 17: 56,710,766 V474A probably benign Het
Rnf220 C T 4: 117,273,251 C259Y probably damaging Het
Sdr16c6 T C 4: 4,076,603 I99V probably benign Het
Slc36a1 A T 11: 55,226,053 I303F probably benign Het
Slc4a1 C T 11: 102,359,146 probably null Het
Syncrip A T 9: 88,479,809 D84E probably damaging Het
Tbc1d9b T C 11: 50,152,830 Y593H probably damaging Het
Tenm2 G T 11: 36,047,030 Y1605* probably null Het
Tmem135 T A 7: 89,154,125 H280L probably benign Het
Tmem229a T A 6: 24,955,122 Q211L probably benign Het
Txlna T C 4: 129,640,408 D5G probably damaging Het
Vmn2r57 T C 7: 41,448,632 I4V probably benign Het
Wdfy3 A G 5: 101,907,587 L1539S probably damaging Het
Zdhhc14 T G 17: 5,726,819 probably null 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
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 On2015-12-18