Incidental Mutation 'R9473:Bmf'
ID 715552
Institutional Source Beutler Lab
Gene Symbol Bmf
Ensembl Gene ENSMUSG00000040093
Gene Name BCL2 modifying factor
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.129) question?
Stock # R9473 (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 C at 118363104 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 251 (F251V)
Ref Sequence ENSEMBL: ENSMUSP00000087686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090219] [ENSMUST00000110859]
AlphaFold Q91ZE9
Predicted Effect probably benign
Transcript: ENSMUST00000090219
AA Change: F251V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000087686
Gene: ENSMUSG00000040093
AA Change: F251V

DomainStartEndE-ValueType
low complexity region 24 36 N/A INTRINSIC
Pfam:BMF 84 270 1.9e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110859
AA Change: F170V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106483
Gene: ENSMUSG00000040093
AA Change: F170V

DomainStartEndE-ValueType
Pfam:BMF 7 190 1.9e-73 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.6%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C T 5: 144,980,912 (GRCm39) P107L probably benign Het
Abcc10 T C 17: 46,617,609 (GRCm39) N1142S probably benign Het
Accsl T C 2: 93,686,092 (GRCm39) H575R probably benign Het
Adgra2 T A 8: 27,610,943 (GRCm39) L964Q probably damaging Het
Akap5 T C 12: 76,376,632 (GRCm39) L688P probably damaging Het
Anapc10 A G 8: 80,501,673 (GRCm39) N147S probably damaging Het
Atm C T 9: 53,410,272 (GRCm39) E1059K probably benign Het
Bltp2 G A 11: 78,174,983 (GRCm39) R1706H probably damaging Het
Capn3 G T 2: 120,326,535 (GRCm39) E576* probably null Het
Capns2 T C 8: 93,628,854 (GRCm39) *248R probably null Het
Ceacam13 G T 7: 17,747,281 (GRCm39) V245L probably benign Het
Clcn3 T C 8: 61,407,651 (GRCm39) D2G probably benign Het
Dcstamp G A 15: 39,617,972 (GRCm39) C127Y probably damaging Het
Dnmt3l C T 10: 77,886,022 (GRCm39) Q36* probably null Het
Dpys A G 15: 39,687,583 (GRCm39) I405T possibly damaging Het
Duoxa1 A G 2: 122,134,326 (GRCm39) I309T probably benign Het
Eif2b1 G A 5: 124,712,677 (GRCm39) Q156* probably null Het
Eif3l T A 15: 78,970,704 (GRCm39) M326K probably damaging Het
Fbxl13 T C 5: 21,790,243 (GRCm39) N267D possibly damaging Het
Fip1l1 C T 5: 74,745,719 (GRCm39) T372I probably damaging Het
Galt A G 4: 41,757,575 (GRCm39) N249S probably benign Het
Gm17324 G T 9: 78,355,839 (GRCm39) R47S unknown Het
Gm45871 T G 18: 90,609,093 (GRCm39) D110E probably benign Het
Gtf2ird1 T A 5: 134,433,534 (GRCm39) T298S probably benign Het
Ighv7-4 T C 12: 114,186,722 (GRCm39) I17V probably benign Het
Krt7 C T 15: 101,318,409 (GRCm39) R299W probably damaging Het
Macc1 A G 12: 119,297,990 (GRCm39) probably benign Het
Mturn G A 6: 54,666,009 (GRCm39) E61K probably benign Het
Nol11 T C 11: 107,075,581 (GRCm39) D149G probably null Het
Nr4a3 A T 4: 48,052,143 (GRCm39) N299I probably damaging Het
Pip5k1b A T 19: 24,335,590 (GRCm39) I351N probably damaging Het
Plce1 G A 19: 38,766,337 (GRCm39) E2121K possibly damaging Het
Pramel11 T G 4: 143,620,815 (GRCm39) T468P probably benign Het
Rdh19 A G 10: 127,696,177 (GRCm39) T310A probably benign Het
Rflnb T A 11: 75,913,064 (GRCm39) Y108F probably damaging Het
Rfx1 A T 8: 84,819,903 (GRCm39) I713F probably damaging Het
Saxo5 G A 8: 3,529,232 (GRCm39) C239Y probably benign Het
Scgn T C 13: 24,143,731 (GRCm39) probably null Het
Serpina1d T C 12: 103,729,939 (GRCm39) *414W probably null Het
Slc18a3 T C 14: 32,185,913 (GRCm39) I157V probably benign Het
Steap1 T C 5: 5,790,378 (GRCm39) Y190C probably damaging Het
Svep1 A G 4: 58,064,243 (GRCm39) S3247P probably benign Het
Syne1 T C 10: 5,198,258 (GRCm39) I3778V probably benign Het
Tas2r114 T C 6: 131,666,104 (GRCm39) D308G probably benign Het
Tpm2 A T 4: 43,514,813 (GRCm39) L274* probably null Het
Ttc39b A G 4: 83,181,977 (GRCm39) F81L possibly damaging Het
Ttn A G 2: 76,547,338 (GRCm39) V32236A probably damaging Het
Ubr5 A G 15: 38,002,617 (GRCm39) V1472A Het
Ugt2b1 A T 5: 87,065,539 (GRCm39) V500D possibly damaging Het
Vpreb1b G A 16: 17,798,565 (GRCm39) C17Y probably benign Het
Wscd1 A G 11: 71,679,644 (GRCm39) N506D probably damaging 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
R7795:Bmf UTSW 2 118,377,358 (GRCm39) missense probably damaging 1.00
R8792:Bmf UTSW 2 118,377,386 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTCAGTGGAGGTTCTGAACG -3'
(R):5'- CAAGCTGCAGTTGTCTTGGG -3'

Sequencing Primer
(F):5'- CCACTGGGGCATGTAATATGTACAC -3'
(R):5'- GGAGGTTCGTCTCTTGTCCC -3'
Posted On 2022-06-15