Incidental Mutation 'PIT4280001:Bmi1'
ID 554393
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) question?
Stock # PIT4280001 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 18681953-18691440 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 18687820 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 98 (Y98*)
Ref Sequence ENSEMBL: ENSMUSP00000028071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000051929] [ENSMUST00000134734] [ENSMUST00000147365] [ENSMUST00000150834] [ENSMUST00000156284]
AlphaFold P25916
Predicted Effect probably null
Transcript: ENSMUST00000028071
AA Change: Y98*
SMART Domains Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: Y98*

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 null
Transcript: ENSMUST00000051929
AA Change: Y98*
SMART Domains Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: Y98*

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 probably null
Transcript: ENSMUST00000134734
AA Change: Y98*
SMART Domains Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
AA Change: Y98*

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 null
Transcript: ENSMUST00000150834
AA Change: Y98*
SMART Domains Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
AA Change: Y98*

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
low complexity region 146 159 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000156284
AA Change: Y98*
SMART Domains Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: Y98*

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
low complexity region 146 159 N/A INTRINSIC
Coding Region Coverage
  • 1x: 93.1%
  • 3x: 90.9%
  • 10x: 85.5%
  • 20x: 73.2%
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020L24Rik A G 11: 83,331,660 (GRCm39) D161G probably damaging Het
Acer2 C T 4: 86,805,320 (GRCm39) L95F probably damaging Het
Adam15 C T 3: 89,251,285 (GRCm39) probably null Het
Aoc1l3 A T 6: 48,964,054 (GRCm39) M21L probably benign Het
Cdon T C 9: 35,398,231 (GRCm39) C983R probably damaging Het
Cfap91 C T 16: 38,153,135 (GRCm39) V160I probably benign Het
Col12a1 T C 9: 79,585,387 (GRCm39) R1297G probably damaging Het
Cpd A T 11: 76,681,850 (GRCm39) M1132K probably benign Het
Dnah17 T A 11: 117,989,408 (GRCm39) R1267W possibly damaging Het
Dnah9 G A 11: 65,895,839 (GRCm39) A2512V probably benign Het
Eri3 G A 4: 117,439,831 (GRCm39) G175D probably damaging Het
Fbxo9 C A 9: 77,994,793 (GRCm39) W244L probably damaging Het
Fgfr3 A T 5: 33,889,576 (GRCm39) H343L probably benign Het
Fmnl2 G A 2: 53,008,208 (GRCm39) A803T unknown Het
Fmnl3 A G 15: 99,219,134 (GRCm39) probably null Het
Fth1 C A 19: 9,961,973 (GRCm39) A104E probably damaging Het
Gcm1 T C 9: 77,966,915 (GRCm39) Y45H probably damaging Het
Gm5157 C G 7: 20,919,007 (GRCm39) G179R probably damaging Het
Gpr179 A G 11: 97,234,941 (GRCm39) I463T probably damaging Het
Gpr35 T C 1: 92,910,356 (GRCm39) Y23H probably damaging Het
Inpp4b C T 8: 82,761,046 (GRCm39) H647Y probably benign Het
Kif6 A T 17: 50,062,148 (GRCm39) K436M probably benign Het
Lacc1 T A 14: 77,272,517 (GRCm39) Q93L probably damaging Het
Lamc1 T C 1: 153,119,217 (GRCm39) R801G probably damaging Het
Lrp2bp T G 8: 46,476,048 (GRCm39) V263G probably damaging Het
Magi3 T A 3: 103,961,668 (GRCm39) K453N probably damaging Het
Mfsd6 T A 1: 52,700,039 (GRCm39) Y703F probably benign Het
Mms22l A G 4: 24,581,149 (GRCm39) T820A probably benign Het
Ndufa12 T C 10: 94,034,994 (GRCm39) probably null Het
Nlrp12 A T 7: 3,290,063 (GRCm39) C150S possibly damaging Het
Noc4l G A 5: 110,799,305 (GRCm39) T159I probably benign Het
Olfml2b T A 1: 170,475,305 (GRCm39) C77S probably damaging Het
Or4c12 A T 2: 89,774,087 (GRCm39) I124N probably damaging Het
Or9a4 C A 6: 40,548,650 (GRCm39) T110K probably damaging Het
Pdzd2 A G 15: 12,399,374 (GRCm39) V784A probably damaging Het
Pip5kl1 A T 2: 32,473,470 (GRCm39) Y369F probably benign Het
Pkdrej A T 15: 85,704,136 (GRCm39) I600N probably benign Het
Psg19 T C 7: 18,530,831 (GRCm39) I108V probably damaging Het
Pxdn G A 12: 30,045,327 (GRCm39) V539M probably damaging Het
Resf1 T G 6: 149,227,023 (GRCm39) I23S probably benign Het
Rsbn1l T A 5: 21,124,653 (GRCm39) H383L probably damaging Het
Scamp2 A T 9: 57,488,076 (GRCm39) N118I probably damaging Het
Scn2a T C 2: 65,546,074 (GRCm39) V879A probably damaging Het
Scn8a G A 15: 100,855,370 (GRCm39) E172K probably damaging Het
Slc16a6 C T 11: 109,349,419 (GRCm39) C214Y possibly damaging Het
Stag1 A G 9: 100,824,769 (GRCm39) T922A possibly damaging Het
Tarbp1 T C 8: 127,157,586 (GRCm39) H1307R probably damaging Het
Tut1 T G 19: 8,936,626 (GRCm39) V150G probably benign Het
Ubr2 G A 17: 47,255,789 (GRCm39) R1371W probably damaging Het
Vmn2r124 A G 17: 18,283,487 (GRCm39) N394D probably benign Het
Vmn2r63 T C 7: 42,553,409 (GRCm39) T616A probably damaging Het
Zp3 G A 5: 136,013,318 (GRCm39) V217M possibly damaging Het
Other mutations in Bmi1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- CCTTAGAACAGTTCTAGGTTTGCC -3'
(R):5'- TCCTCGGTCTTCATTGGAGC -3'

Sequencing Primer
(F):5'- CAGTTCTAGGTTTGCCATATTAACTG -3'
(R):5'- CCATTGGCAGCTATAAAGACAGTTTG -3'
Posted On 2019-06-07