Incidental Mutation 'R8412:Bmi1'
ID 652718
Institutional Source Beutler Lab
Gene Symbol Bmi1
Ensembl Gene ENSMUSG00000026739
Gene Name Bmi1 polycomb ring finger oncogene
Synonyms Pcgf4, Bmi-1, Bmi1
MMRRC Submission 067816-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.947) question?
Stock # R8412 (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 18689114 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 266 (T266I)
Ref Sequence ENSEMBL: ENSMUSP00000028071 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028071] [ENSMUST00000051929] [ENSMUST00000134734] [ENSMUST00000147365] [ENSMUST00000150834] [ENSMUST00000156284]
AlphaFold P25916
Predicted Effect probably damaging
Transcript: ENSMUST00000028071
AA Change: T266I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: T266I

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: T266I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: T266I

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 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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T A 1: 183,765,356 (GRCm39) R234S probably damaging Het
Ace T A 11: 105,870,092 (GRCm39) F806Y probably benign Het
Ak8 A G 2: 28,629,643 (GRCm39) T286A probably benign Het
Apba2 T A 7: 64,395,546 (GRCm39) F674Y probably damaging Het
Apob A G 12: 8,058,069 (GRCm39) I2184V probably benign Het
Arhgap23 C T 11: 97,356,854 (GRCm39) P884L probably benign Het
Atg2a T C 19: 6,294,554 (GRCm39) L90P probably damaging Het
Bhmt2 T A 13: 93,798,820 (GRCm39) I334F possibly damaging Het
Cdh26 A G 2: 178,104,517 (GRCm39) I301V probably damaging Het
Cenpx A T 11: 120,602,558 (GRCm39) H68Q unknown Het
Cnot10 T C 9: 114,439,738 (GRCm39) R524G probably benign Het
Cnpy1 A T 5: 28,414,206 (GRCm39) Y22* probably null Het
Csmd3 C T 15: 47,499,794 (GRCm39) R2114H Het
Defa29 T A 8: 21,816,062 (GRCm39) T102S probably benign Het
Fras1 T C 5: 96,744,711 (GRCm39) I582T probably benign Het
Gm14295 G A 2: 176,501,422 (GRCm39) C304Y probably damaging Het
Gucy2d T C 7: 98,093,046 (GRCm39) V141A possibly damaging Het
Ifi47 A C 11: 48,986,425 (GRCm39) Q64P probably damaging Het
Irx3 G T 8: 92,527,028 (GRCm39) S225R possibly damaging Het
Itpr1 A G 6: 108,340,581 (GRCm39) H289R probably benign Het
Lamc3 A G 2: 31,802,128 (GRCm39) D512G probably damaging Het
Mcm3 C T 1: 20,886,980 (GRCm39) V142I probably benign Het
Med23 C A 10: 24,784,632 (GRCm39) F1200L probably benign Het
Ndst4 A T 3: 125,364,439 (GRCm39) D372V possibly damaging Het
Nob1 T A 8: 108,148,230 (GRCm39) K71* probably null Het
Ntrk3 A G 7: 78,005,897 (GRCm39) I488T probably benign Het
Pds5b G T 5: 150,643,424 (GRCm39) C82F probably damaging Het
Pkd1l3 T A 8: 110,360,022 (GRCm39) V969E possibly damaging Het
Ppme1 A T 7: 99,984,298 (GRCm39) N307K probably benign Het
Pus7l C T 15: 94,425,856 (GRCm39) C515Y probably benign Het
Rpp21 T A 17: 36,568,591 (GRCm39) H22L possibly damaging Het
Scamp3 T C 3: 89,088,525 (GRCm39) F244L probably damaging Het
Scgb1b7 A T 7: 31,412,379 (GRCm39) K52* probably null Het
Slc12a3 T C 8: 95,060,695 (GRCm39) I261T probably damaging Het
Slc19a3 C T 1: 82,992,533 (GRCm39) R396H probably damaging Het
Slc22a14 T C 9: 119,009,922 (GRCm39) I58V probably benign Het
Slc9a9 A C 9: 95,111,092 (GRCm39) T637P probably damaging Het
Snrnp40 T A 4: 130,278,316 (GRCm39) C274S possibly damaging Het
Sptbn1 A G 11: 30,088,457 (GRCm39) V905A probably damaging Het
Taok3 A G 5: 117,404,102 (GRCm39) D759G possibly damaging Het
Tas1r1 T C 4: 152,117,033 (GRCm39) I200M probably benign Het
Tnfrsf25 T C 4: 152,204,139 (GRCm39) V360A possibly damaging Het
Trim12a A T 7: 103,953,544 (GRCm39) M189K possibly damaging Het
Tspan32 T C 7: 142,559,695 (GRCm39) F41L probably benign Het
Tube1 T A 10: 39,021,657 (GRCm39) S301T possibly damaging Het
Usp8 T C 2: 126,584,578 (GRCm39) S596P probably benign Het
Virma T A 4: 11,521,261 (GRCm39) probably null Het
Vmn2r58 T C 7: 41,513,722 (GRCm39) D307G probably benign Het
Zeb2 T C 2: 44,888,964 (GRCm39) K327R probably damaging Het
Zfp54 C T 17: 21,654,910 (GRCm39) T468M probably benign Het
Zfp780b A T 7: 27,662,551 (GRCm39) I668N 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
PIT4280001:Bmi1 UTSW 2 18,687,820 (GRCm39) nonsense probably null
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
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'- AGCTCGTTACCTGGAGGCTATG -3'
(R):5'- CCAGATGAAGTTGCTGATGACC -3'

Sequencing Primer
(F):5'- GCTATGTTGGCCCAGTACATATAAAG -3'
(R):5'- GAAGTTGCTGATGACCCATTTAG -3'
Posted On 2020-10-20