Incidental Mutation 'R0009:Bmf'
ID 150642
Institutional Source Beutler Lab
Gene Symbol Bmf
Ensembl Gene ENSMUSG00000040093
Gene Name BCL2 modifying factor
MMRRC Submission 038304-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0009 (G1)
Quality Score 61
Status Validated
Chromosome 2
Chromosomal Location 118528757-118549687 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118549622 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 14 (V14E)
Ref Sequence ENSEMBL: ENSMUSP00000087686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090219] [ENSMUST00000110859]
AlphaFold Q91ZE9
Predicted Effect probably damaging
Transcript: ENSMUST00000090219
AA Change: V14E

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000087686
Gene: ENSMUSG00000040093
AA Change: V14E

low complexity region 24 36 N/A INTRINSIC
Pfam:BMF 84 270 1.9e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110859
SMART Domains Protein: ENSMUSP00000106483
Gene: ENSMUSG00000040093

Pfam:BMF 7 190 1.9e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154521
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (68/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the BCL2 protein family. BCL2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. This protein contains a single BCL2 homology domain 3 (BH3), and has been shown to bind BCL2 proteins and function as an apoptotic activator. This protein is found to be sequestered to myosin V motors by its association with dynein light chain 2, which may be important for sensing intracellular damage and triggering apoptosis. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted knockout mutations show enlarged spleen, increased B cells and CD8-positive T cells, decreased B cells and T cells apoptosis, vagina atresia and hydrometrocolpos. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg T G 15: 60,919,633 (GRCm38) probably benign Het
Abcg4 T G 9: 44,277,649 (GRCm38) probably benign Het
Afm C A 5: 90,545,384 (GRCm38) probably benign Het
Ahrr G A 13: 74,283,024 (GRCm38) probably benign Het
Aplnr T A 2: 85,137,276 (GRCm38) probably null Het
Arih2 T A 9: 108,611,727 (GRCm38) H264L probably damaging Het
Atp1a1 A T 3: 101,579,835 (GRCm38) I886N possibly damaging Het
Ccdc116 T C 16: 17,144,039 (GRCm38) E15G probably damaging Het
Ccdc175 T C 12: 72,135,965 (GRCm38) N427D possibly damaging Het
Cfap53 A G 18: 74,299,176 (GRCm38) H45R probably benign Het
Chd3 A G 11: 69,349,906 (GRCm38) L1569P probably damaging Het
Cntn2 G A 1: 132,516,180 (GRCm38) Q457* probably null Het
Coro1a A T 7: 126,701,413 (GRCm38) probably benign Het
Cracr2b T A 7: 141,463,759 (GRCm38) L91Q probably damaging Het
Ctdspl T C 9: 119,020,046 (GRCm38) probably null Het
Dip2b T A 15: 100,169,312 (GRCm38) L565Q probably damaging Het
Dip2c T A 13: 9,621,903 (GRCm38) C1004S probably damaging Het
Dnah11 A T 12: 118,045,522 (GRCm38) I2135N possibly damaging Het
Dnah14 A G 1: 181,769,407 (GRCm38) probably benign Het
Dnase1 T C 16: 4,038,946 (GRCm38) V147A probably damaging Het
Dusp8 T C 7: 142,082,054 (GRCm38) probably benign Het
Fer1l6 T C 15: 58,662,787 (GRCm38) Y1828H probably damaging Het
Flvcr1 A G 1: 191,008,191 (GRCm38) V544A probably benign Het
Fsd1l T C 4: 53,687,209 (GRCm38) V311A probably benign Het
Glud1 G A 14: 34,334,268 (GRCm38) G300S probably benign Het
Gm4847 C T 1: 166,630,486 (GRCm38) V433I probably benign Het
Gstm3 T G 3: 107,967,840 (GRCm38) Y62S probably damaging Het
Gtse1 C T 15: 85,862,435 (GRCm38) P151S probably benign Het
Herc2 T C 7: 56,207,812 (GRCm38) S4048P probably benign Het
Hp1bp3 T A 4: 138,221,683 (GRCm38) I19K probably benign Het
Htr7 C A 19: 36,041,540 (GRCm38) probably benign Het
Il1a C T 2: 129,309,074 (GRCm38) D10N probably damaging Het
Il22ra2 A T 10: 19,624,458 (GRCm38) N39I probably damaging Het
Kcnn4 T C 7: 24,379,255 (GRCm38) C267R possibly damaging Het
Larp1 A G 11: 58,055,473 (GRCm38) K879R possibly damaging Het
Lcn5 T A 2: 25,661,405 (GRCm38) probably benign Het
Lep T A 6: 29,068,972 (GRCm38) C7* probably null Het
Magi2 A T 5: 20,611,055 (GRCm38) Y747F probably benign Het
Mast4 T C 13: 102,742,058 (GRCm38) T1223A probably damaging Het
Mcc C T 18: 44,445,933 (GRCm38) E803K probably damaging Het
Mtmr4 T C 11: 87,611,508 (GRCm38) I796T probably benign Het
Myef2 A T 2: 125,108,978 (GRCm38) D312E probably benign Het
Myl3 A C 9: 110,767,929 (GRCm38) D119A probably damaging Het
Myo19 T A 11: 84,888,169 (GRCm38) probably null Het
Naa15 T G 3: 51,470,219 (GRCm38) H763Q probably damaging Het
Pde5a C T 3: 122,824,902 (GRCm38) probably benign Het
Plpp2 C T 10: 79,527,244 (GRCm38) R184H probably benign Het
Rab19 T G 6: 39,389,687 (GRCm38) L179V probably damaging Het
Rims2 T A 15: 39,534,966 (GRCm38) M1087K probably damaging Het
Riox2 C A 16: 59,489,367 (GRCm38) D361E probably benign Het
Sh3rf1 T A 8: 61,226,293 (GRCm38) V123E probably damaging Het
Slc35e1 A T 8: 72,484,709 (GRCm38) N318K probably damaging Het
Slc9a2 A T 1: 40,763,602 (GRCm38) E604V probably benign Het
Srp72 T C 5: 76,987,885 (GRCm38) S221P probably damaging Het
Tbx19 A T 1: 165,160,520 (GRCm38) S15T possibly damaging Het
Tcea2 A G 2: 181,685,817 (GRCm38) T112A probably benign Het
Tesk1 T A 4: 43,445,368 (GRCm38) D230E probably damaging Het
Tm4sf5 C T 11: 70,510,712 (GRCm38) A179V probably damaging Het
Tnr G T 1: 159,852,416 (GRCm38) G320V probably damaging Het
Trappc11 A T 8: 47,503,320 (GRCm38) C874S possibly damaging Het
Trpm3 T A 19: 22,914,446 (GRCm38) Y885N probably damaging Het
Unc5a T A 13: 55,002,879 (GRCm38) C505S probably damaging Het
Vmn1r28 G A 6: 58,265,717 (GRCm38) A182T probably benign Het
Xpo5 T C 17: 46,204,786 (GRCm38) probably benign Het
Zfp637 C A 6: 117,845,668 (GRCm38) H252Q probably damaging Het
Zfp646 T A 7: 127,880,731 (GRCm38) D693E probably damaging Het
Other mutations in Bmf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Bmf APN 2 118,549,158 (GRCm38) missense probably benign 0.00
R4180:Bmf UTSW 2 118,532,537 (GRCm38) utr 3 prime probably benign
R4598:Bmf UTSW 2 118,549,128 (GRCm38) missense probably benign 0.00
R4685:Bmf UTSW 2 118,546,802 (GRCm38) missense probably damaging 1.00
R5883:Bmf UTSW 2 118,546,966 (GRCm38) synonymous silent
R5921:Bmf UTSW 2 118,532,553 (GRCm38) utr 3 prime probably benign
R7795:Bmf UTSW 2 118,546,877 (GRCm38) missense probably damaging 1.00
R8792:Bmf UTSW 2 118,546,905 (GRCm38) missense probably damaging 1.00
R9473:Bmf UTSW 2 118,532,623 (GRCm38) missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-01-27