Incidental Mutation 'R7758:Bfar'
ID 597697
Institutional Source Beutler Lab
Gene Symbol Bfar
Ensembl Gene ENSMUSG00000022684
Gene Name bifunctional apoptosis regulator
Synonyms RNF47
MMRRC Submission 045814-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R7758 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 13489722-13521476 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 13519985 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 406 (F406S)
Ref Sequence ENSEMBL: ENSMUSP00000023365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000069281] [ENSMUST00000127973]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000023365
AA Change: F406S

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: F406S

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
transmembrane domain 142 164 N/A INTRINSIC
SAM 179 249 1.82e-6 SMART
transmembrane domain 361 380 N/A INTRINSIC
transmembrane domain 407 429 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000069281
AA Change: F281S

PolyPhen 2 Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
AA Change: F281S

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
low complexity region 86 97 N/A INTRINSIC
PDB:1V85|A 98 123 2e-8 PDB
Blast:SAM 98 124 2e-8 BLAST
transmembrane domain 236 255 N/A INTRINSIC
transmembrane domain 282 304 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127973
SMART Domains Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
transmembrane domain 142 161 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 96% (48/50)
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 A G 3: 121,921,816 (GRCm39) D1124G probably damaging Het
Actr10 A G 12: 70,989,100 (GRCm39) H73R probably damaging Het
Ak9 G T 10: 41,223,128 (GRCm39) A424S Het
Alkbh5 G A 11: 60,429,903 (GRCm39) V219M probably damaging Het
Ankrd60 T C 2: 173,410,562 (GRCm39) *319W probably null Het
Brd4 A G 17: 32,417,956 (GRCm39) I1157T unknown Het
Card6 G A 15: 5,129,378 (GRCm39) Q673* probably null Het
Cdyl T A 13: 36,056,624 (GRCm39) Y585N probably damaging Het
Cep192 A C 18: 67,989,384 (GRCm39) I1844L possibly damaging Het
Colec11 A C 12: 28,645,241 (GRCm39) probably null Het
Crh T A 3: 19,748,453 (GRCm39) Y63F probably damaging Het
Dmbt1 C T 7: 130,722,926 (GRCm39) H1946Y unknown Het
Dock4 C T 12: 40,760,878 (GRCm39) T522I probably benign Het
Fstl4 C A 11: 53,059,123 (GRCm39) D527E possibly damaging Het
Gm17019 A G 5: 15,079,300 (GRCm39) *256Q probably null Het
Gm5460 A T 14: 33,757,114 (GRCm39) T64S probably benign Het
H3c13 A G 3: 96,176,203 (GRCm39) K65R possibly damaging Het
Hoxa9 A T 6: 52,202,542 (GRCm39) N181K probably benign Het
Ift81 A T 5: 122,689,088 (GRCm39) L676H probably damaging Het
Klhl35 C T 7: 99,122,425 (GRCm39) T87I unknown Het
Kmt2e A G 5: 23,701,068 (GRCm39) T761A possibly damaging Het
Lca5l C T 16: 95,980,037 (GRCm39) R36H probably benign Het
Lin7c T A 2: 109,726,717 (GRCm39) I122K probably damaging Het
Malt1 A G 18: 65,606,190 (GRCm39) I622V probably benign Het
Megf8 T C 7: 25,041,850 (GRCm39) probably null Het
Morc2b A G 17: 33,355,981 (GRCm39) V597A probably damaging Het
Or10d4 T C 9: 39,580,371 (GRCm39) M6T probably benign Het
Or4c120 T A 2: 89,001,485 (GRCm39) I24L probably benign Het
Or8g2 T G 9: 39,821,621 (GRCm39) I174S possibly damaging Het
Pdlim1 G A 19: 40,231,986 (GRCm39) P131S probably benign Het
Plekhh1 T C 12: 79,117,578 (GRCm39) I858T probably benign Het
Pls1 T C 9: 95,658,897 (GRCm39) N197S probably benign Het
Pnma8a A T 7: 16,695,224 (GRCm39) T360S probably benign Het
Pon1 A T 6: 5,168,344 (GRCm39) D354E probably benign Het
Prss43 G A 9: 110,658,459 (GRCm39) G253E possibly damaging Het
Rbp3 G A 14: 33,676,732 (GRCm39) V227M probably benign Het
Slc22a15 A G 3: 101,805,251 (GRCm39) probably null Het
Slc7a11 A G 3: 50,326,809 (GRCm39) I484T probably benign Het
Snrpa A G 7: 26,892,371 (GRCm39) V63A possibly damaging Het
Sphk1 A G 11: 116,427,063 (GRCm39) R340G possibly damaging Het
Strc T C 2: 121,201,427 (GRCm39) E1259G probably benign Het
Suds3 T G 5: 117,253,802 (GRCm39) D26A unknown Het
Taok3 A G 5: 117,388,972 (GRCm39) E459G probably damaging Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b AGCCAG AGCCAGCGCCAG 4: 43,177,344 (GRCm39) probably benign Het
Vmn1r201 A G 13: 22,658,989 (GRCm39) T68A not run Het
Wdr59 T A 8: 112,207,117 (GRCm39) I534F Het
Ylpm1 A G 12: 85,061,796 (GRCm39) I566V unknown Het
Zbtb4 A G 11: 69,669,368 (GRCm39) E697G probably benign Het
Zcchc14 T C 8: 122,331,428 (GRCm39) K645R unknown Het
Zfp704 C T 3: 9,509,282 (GRCm39) V388M possibly damaging Het
Zfp994 T C 17: 22,419,828 (GRCm39) T374A possibly damaging Het
Other mutations in Bfar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Bfar APN 16 13,516,827 (GRCm39) missense probably benign 0.03
IGL01067:Bfar APN 16 13,503,105 (GRCm39) missense probably damaging 1.00
IGL01532:Bfar APN 16 13,505,251 (GRCm39) splice site probably benign
IGL02727:Bfar APN 16 13,506,791 (GRCm39) critical splice donor site probably null
IGL03189:Bfar APN 16 13,505,365 (GRCm39) missense possibly damaging 0.89
R1167:Bfar UTSW 16 13,516,758 (GRCm39) missense possibly damaging 0.92
R1213:Bfar UTSW 16 13,505,308 (GRCm39) missense possibly damaging 0.89
R1620:Bfar UTSW 16 13,506,710 (GRCm39) missense probably damaging 1.00
R1951:Bfar UTSW 16 13,519,970 (GRCm39) missense probably damaging 0.99
R2193:Bfar UTSW 16 13,515,335 (GRCm39) missense probably benign
R4578:Bfar UTSW 16 13,505,307 (GRCm39) missense probably benign 0.20
R4789:Bfar UTSW 16 13,503,001 (GRCm39) start codon destroyed probably null 0.99
R4819:Bfar UTSW 16 13,505,331 (GRCm39) nonsense probably null
R5271:Bfar UTSW 16 13,510,261 (GRCm39) intron probably benign
R6346:Bfar UTSW 16 13,519,997 (GRCm39) missense probably damaging 0.99
R7186:Bfar UTSW 16 13,510,371 (GRCm39) missense probably benign
X0021:Bfar UTSW 16 13,505,451 (GRCm39) missense probably benign 0.25
Z1088:Bfar UTSW 16 13,515,324 (GRCm39) missense probably damaging 0.99
Z1177:Bfar UTSW 16 13,506,674 (GRCm39) missense probably benign 0.03
Predicted Primers PCR Primer
(F):5'- ACACATGCTAGGAGCTGGAG -3'
(R):5'- GTAGAAACGAGTCCCTTGTCTC -3'

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