Incidental Mutation 'R5514:Bmi1'
ID 440210
Institutional Source Beutler Lab
Gene Symbol Bmi1
Ensembl Gene ENSMUSG00000026739
Gene Name Bmi1 polycomb ring finger oncogene
Synonyms Pcgf4, Bmi-1, Bmi1
MMRRC Submission 043074-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.945) question?
Stock # R5514 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 18681953-18691440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18686714 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 31 (I31T)
Ref Sequence ENSEMBL: ENSMUSP00000119331 (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: I31T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028071
Gene: ENSMUSG00000026739
AA Change: I31T

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: I31T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110300
Gene: ENSMUSG00000026739
AA Change: I31T

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: I31T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000121876
Gene: ENSMUSG00000026739
AA Change: I31T

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000147365
AA Change: I31T

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000118273
Gene: ENSMUSG00000026739
AA Change: I31T

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000150834
AA Change: I31T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119331
Gene: ENSMUSG00000026739
AA Change: I31T

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: I31T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000118730
Gene: ENSMUSG00000026739
AA Change: I31T

DomainStartEndE-ValueType
RING 18 56 4.34e-5 SMART
low complexity region 146 159 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam17 T C 12: 21,390,520 (GRCm39) S382G probably damaging Het
Agr2 G A 12: 36,046,090 (GRCm39) V74I probably benign Het
Aldh3a1 T C 11: 61,108,867 (GRCm39) S423P probably damaging Het
Ampd1 C T 3: 102,986,488 (GRCm39) H56Y possibly damaging Het
Arhgef2 C A 3: 88,550,304 (GRCm39) P670T probably benign Het
Blk T G 14: 63,615,930 (GRCm39) D333A probably damaging Het
Cacna1d G A 14: 30,072,790 (GRCm39) Q62* probably null Het
Ccdc88c A G 12: 100,879,698 (GRCm39) S1801P probably damaging Het
Cdkal1 C T 13: 29,961,270 (GRCm39) A100T probably damaging Het
Cfap251 G T 5: 123,425,829 (GRCm39) probably null Het
Chst4 G T 8: 110,756,606 (GRCm39) S419Y probably damaging Het
Cntn4 T C 6: 106,649,844 (GRCm39) I680T probably damaging Het
Ddx55 T C 5: 124,694,875 (GRCm39) V101A probably damaging Het
Ddx60 A T 8: 62,411,091 (GRCm39) E451V probably damaging Het
Dffa T A 4: 149,190,772 (GRCm39) probably null Het
Dgkd A G 1: 87,861,832 (GRCm39) R796G probably damaging Het
Dzank1 T A 2: 144,323,605 (GRCm39) M614L probably benign Het
Elf2 G T 3: 51,215,555 (GRCm39) Q52K probably damaging Het
Fcamr T A 1: 130,741,793 (GRCm39) L522Q probably damaging Het
Fscn2 T C 11: 120,258,858 (GRCm39) Y468H probably damaging Het
Gm12689 T C 4: 99,184,402 (GRCm39) I85T unknown Het
Gm4787 A G 12: 81,425,102 (GRCm39) V352A possibly damaging Het
Gtsf1 T C 15: 103,336,802 (GRCm39) Q13R probably benign Het
Itpkb G A 1: 180,241,474 (GRCm39) V715M probably damaging Het
Jmjd1c T A 10: 67,053,928 (GRCm39) S263T probably damaging Het
Krba1 T G 6: 48,390,429 (GRCm39) L736R probably damaging Het
Lrrc8d C G 5: 105,960,650 (GRCm39) F353L probably damaging Het
Lrrc8d G A 5: 105,960,651 (GRCm39) E354K probably benign Het
Mtor T A 4: 148,630,901 (GRCm39) V2286E probably damaging Het
Mybbp1a T A 11: 72,341,462 (GRCm39) V1100E possibly damaging Het
Myo5a G A 9: 75,061,048 (GRCm39) G518D probably damaging Het
Nalcn A T 14: 123,521,123 (GRCm39) I1594N probably benign Het
Nav1 C G 1: 135,398,299 (GRCm39) G761A probably benign Het
Ncoa2 A T 1: 13,251,445 (GRCm39) L276H probably damaging Het
Ndufaf7 T C 17: 79,245,051 (GRCm39) Y57H probably damaging Het
Nfkb2 A G 19: 46,299,847 (GRCm39) Y807C probably damaging Het
Nid2 A T 14: 19,852,535 (GRCm39) Q1081L probably damaging Het
Nkain2 T A 10: 31,827,189 (GRCm39) I134F probably damaging Het
Nmu A C 5: 76,497,979 (GRCm39) S69A probably damaging Het
Or4c15b A T 2: 89,112,817 (GRCm39) I220N probably damaging Het
Or5t7 T C 2: 86,507,225 (GRCm39) I151V probably benign Het
Pard3 A G 8: 128,153,086 (GRCm39) R886G probably damaging Het
Pde6b G T 5: 108,571,317 (GRCm39) Q423H probably benign Het
Pip5k1b A T 19: 24,327,505 (GRCm39) D450E probably damaging Het
Plcg1 T C 2: 160,595,275 (GRCm39) probably null Het
Pnpt1 T C 11: 29,103,246 (GRCm39) S504P possibly damaging Het
Pomt2 A T 12: 87,175,797 (GRCm39) D312E probably damaging Het
Ppp1r1b T C 11: 98,246,228 (GRCm39) L70P probably damaging Het
Prr5 C A 15: 84,587,096 (GRCm39) P282Q probably benign Het
Reln A T 5: 22,176,883 (GRCm39) W1928R possibly damaging Het
Sacm1l A T 9: 123,415,419 (GRCm39) R465* probably null Het
Sema7a A G 9: 57,863,046 (GRCm39) Y239C probably damaging Het
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Svep1 T C 4: 58,044,054 (GRCm39) T3531A possibly damaging Het
Tjp1 A T 7: 65,004,609 (GRCm39) W19R probably damaging Het
Tmc2 T A 2: 130,083,564 (GRCm39) M507K possibly damaging Het
Unc13a A G 8: 72,095,795 (GRCm39) Y1241H probably damaging Het
Upp1 C T 11: 9,081,771 (GRCm39) P103S probably damaging Het
Vldlr A G 19: 27,221,624 (GRCm39) E663G probably damaging Het
Vmn2r68 G A 7: 84,886,767 (GRCm39) T49I possibly damaging Het
Xirp2 A T 2: 67,335,465 (GRCm39) M95L probably benign 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
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'- AGTTGTGGAGATAACTCAATTCTCG -3'
(R):5'- AGGATGGGAAATGACTAGGTTTTCTC -3'

Sequencing Primer
(F):5'- GATCACTGAGCTAAATCCC -3'
(R):5'- CTTGAAAACTACATACTGCCTAACTG -3'
Posted On 2016-11-08