Incidental Mutation 'R7795:Bmf'
ID 600159
Institutional Source Beutler Lab
Gene Symbol Bmf
Ensembl Gene ENSMUSG00000040093
Gene Name BCL2 modifying factor
Synonyms
MMRRC Submission 045851-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R7795 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 118359238-118380168 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118377358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 130 (L130P)
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: L130P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087686
Gene: ENSMUSG00000040093
AA Change: L130P

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
Pfam:BMF 84 270 1.9e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110859
AA Change: L49P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106483
Gene: ENSMUSG00000040093
AA Change: L49P

DomainStartEndE-ValueType
Pfam:BMF 7 190 1.9e-73 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankle1 T C 8: 71,861,337 (GRCm39) S391P probably damaging Het
Ankmy1 T C 1: 92,811,570 (GRCm39) Q606R probably benign Het
Ccdc88c G A 12: 100,889,570 (GRCm39) T1491I probably benign Het
Cyp2c69 G A 19: 39,864,663 (GRCm39) R272C probably benign Het
Defa27 A G 8: 21,806,354 (GRCm39) N78S probably benign Het
Depdc5 T A 5: 33,101,447 (GRCm39) D912E probably damaging Het
Dsc3 C T 18: 20,099,288 (GRCm39) D743N probably damaging Het
Epcam T C 17: 87,950,983 (GRCm39) V190A probably benign Het
Exoc2 G A 13: 31,060,756 (GRCm39) R583* probably null Het
Extl1 T A 4: 134,091,990 (GRCm39) I288F probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fcer2a T A 8: 3,732,910 (GRCm39) Y299F probably benign Het
Frmd4a G A 2: 4,595,506 (GRCm39) G439R probably damaging Het
Gal3st4 T C 5: 138,269,100 (GRCm39) H120R probably benign Het
Grid1 C A 14: 35,043,642 (GRCm39) N332K probably damaging Het
Igkv4-68 A G 6: 69,281,896 (GRCm39) Y92H probably damaging Het
Itga1 T C 13: 115,148,772 (GRCm39) E283G probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Lrrc24 A G 15: 76,602,248 (GRCm39) L169P probably benign Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mettl8 T C 2: 70,812,243 (GRCm39) T131A probably benign Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Nbr1 T A 11: 101,460,154 (GRCm39) D383E probably damaging Het
Neto1 A T 18: 86,479,198 (GRCm39) K167N probably benign Het
Nkx6-1 A T 5: 101,811,628 (GRCm39) L158Q unknown Het
Nlrp5 G A 7: 23,118,219 (GRCm39) V648M possibly damaging Het
Nvl G T 1: 180,924,722 (GRCm39) Q811K probably benign Het
Or13a21 A G 7: 139,999,027 (GRCm39) F220L possibly damaging Het
Or13p3 C A 4: 118,566,855 (GRCm39) H84N possibly damaging Het
Or1j10 A G 2: 36,267,453 (GRCm39) T222A probably benign Het
Or3a1c T A 11: 74,046,844 (GRCm39) L288Q probably damaging Het
Pccb T C 9: 100,881,316 (GRCm39) Y224C probably damaging Het
Pcdh10 T C 3: 45,334,657 (GRCm39) Y324H probably benign Het
Pecam1 C A 11: 106,586,658 (GRCm39) E286* probably null Het
Prl7d1 A T 13: 27,893,263 (GRCm39) L215Q probably damaging Het
Ranbp2 T A 10: 58,319,729 (GRCm39) Y2514* probably null Het
Rgs11 A G 17: 26,426,552 (GRCm39) H261R possibly damaging Het
Samd15 A G 12: 87,247,506 (GRCm39) T64A probably benign Het
Shc4 T A 2: 125,565,285 (GRCm39) S5C probably damaging Het
Shroom3 G A 5: 93,067,508 (GRCm39) V109M probably damaging Het
Spata13 T C 14: 60,929,291 (GRCm39) I283T possibly damaging Het
Sptbn2 C G 19: 4,799,040 (GRCm39) R2037G probably benign Het
Synj2bp G A 12: 81,548,922 (GRCm39) P106S probably benign Het
Tasor T C 14: 27,203,340 (GRCm39) S289P Het
Thoc1 T C 18: 9,986,300 (GRCm39) V344A probably damaging Het
Vmn1r71 A G 7: 10,482,136 (GRCm39) L184S probably damaging Het
Vps45 A G 3: 95,926,936 (GRCm39) I537T probably benign Het
Other mutations in Bmf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01610:Bmf APN 2 118,379,639 (GRCm39) missense probably benign 0.00
R0009:Bmf UTSW 2 118,380,103 (GRCm39) missense probably damaging 0.98
R4180:Bmf UTSW 2 118,363,018 (GRCm39) utr 3 prime probably benign
R4598:Bmf UTSW 2 118,379,609 (GRCm39) missense probably benign 0.00
R4685:Bmf UTSW 2 118,377,283 (GRCm39) missense probably damaging 1.00
R5883:Bmf UTSW 2 118,377,447 (GRCm39) synonymous silent
R5921:Bmf UTSW 2 118,363,034 (GRCm39) utr 3 prime probably benign
R8792:Bmf UTSW 2 118,377,386 (GRCm39) missense probably damaging 1.00
R9473:Bmf UTSW 2 118,363,104 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCTGGCTGTTCAGTTTGAG -3'
(R):5'- AGCCCAGATGCTTCCATTG -3'

Sequencing Primer
(F):5'- TTCCCCCAATCTCTAAGGTTAAGAG -3'
(R):5'- CCATTGTTCTCTGACAGGAGAG -3'
Posted On 2019-11-26