Incidental Mutation 'IGL00433:Bfar'
ID4008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bfar
Ensembl Gene ENSMUSG00000022684
Gene Namebifunctional apoptosis regulator
Synonyms3010001A07Rik, RNF47
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.129) question?
Stock #IGL00433
Quality Score
Status
Chromosome16
Chromosomal Location13671858-13703612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 13698963 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Asparagine at position 350 (D350N)
Ref Sequence ENSEMBL: ENSMUSP00000023365 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000069281] [ENSMUST00000127973]
Predicted Effect probably benign
Transcript: ENSMUST00000023365
AA Change: D350N

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: D350N

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 probably benign
Transcript: ENSMUST00000069281
AA Change: D225N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684
AA Change: D225N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154568
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,394,641 A196V probably benign Het
BC024139 A G 15: 76,125,100 V238A probably benign Het
C4b A T 17: 34,742,041 F217Y possibly damaging Het
Camk1g T C 1: 193,347,349 probably benign Het
Camkmt A G 17: 85,096,666 probably benign Het
Cass4 T C 2: 172,416,250 L56P probably damaging Het
Ccs A G 19: 4,825,608 I243T possibly damaging Het
Cds2 T C 2: 132,297,293 V152A probably damaging Het
Chd1l T C 3: 97,590,605 N307D probably damaging Het
Cmtm2b T C 8: 104,330,446 I146T possibly damaging Het
Cntnap3 T C 13: 64,772,731 Y608C probably damaging Het
Cog5 A G 12: 31,685,704 R157G probably damaging Het
Csmd1 A C 8: 16,231,373 F713V probably damaging Het
Csrp3 T C 7: 48,830,692 N175D probably benign Het
Exoc4 A G 6: 33,296,788 D176G probably damaging Het
Fam57a T C 11: 76,207,991 F164L probably damaging Het
Fbxo10 T C 4: 45,058,684 D351G probably damaging Het
Gm12185 A T 11: 48,907,222 S815T probably benign Het
Gpld1 A G 13: 24,986,922 probably benign Het
Hspa2 T C 12: 76,406,349 C606R possibly damaging Het
Leo1 C T 9: 75,450,480 probably benign Het
Mta3 C T 17: 83,708,432 P21L probably damaging Het
Pkn1 T C 8: 83,681,006 E471G probably damaging Het
Postn C T 3: 54,373,728 R425C probably damaging Het
Reln A G 5: 22,045,009 L676P probably damaging Het
Sin3a G A 9: 57,097,901 V362M probably damaging Het
Slc6a7 C T 18: 61,001,291 probably null Het
Smc6 A T 12: 11,299,263 D749V possibly damaging Het
Smg5 C T 3: 88,351,428 Q569* probably null Het
Sspo G A 6: 48,490,036 C4130Y probably damaging Het
Tnn A T 1: 160,098,206 probably benign Het
Tomt C T 7: 101,902,186 R29H probably benign Het
Uggt2 A T 14: 119,013,487 D1199E probably benign Het
Usp33 A G 3: 152,373,409 K433E probably benign Het
Vmn2r89 A G 14: 51,454,965 Y75C probably damaging Het
Wnt7a C T 6: 91,365,991 G303D probably damaging Het
Other mutations in Bfar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01067:Bfar APN 16 13685241 missense probably damaging 1.00
IGL01532:Bfar APN 16 13687387 splice site probably benign
IGL02727:Bfar APN 16 13688927 critical splice donor site probably null
IGL03189:Bfar APN 16 13687501 missense possibly damaging 0.89
R1167:Bfar UTSW 16 13698894 missense possibly damaging 0.92
R1213:Bfar UTSW 16 13687444 missense possibly damaging 0.89
R1620:Bfar UTSW 16 13688846 missense probably damaging 1.00
R1951:Bfar UTSW 16 13702106 missense probably damaging 0.99
R2193:Bfar UTSW 16 13697471 missense probably benign
R4578:Bfar UTSW 16 13687443 missense probably benign 0.20
R4789:Bfar UTSW 16 13685137 start codon destroyed probably null 0.99
R4819:Bfar UTSW 16 13687467 nonsense probably null
R5271:Bfar UTSW 16 13692397 intron probably benign
R6346:Bfar UTSW 16 13702133 missense probably damaging 0.99
R7186:Bfar UTSW 16 13692507 missense probably benign
R7758:Bfar UTSW 16 13702121 missense possibly damaging 0.66
X0021:Bfar UTSW 16 13687587 missense probably benign 0.25
Z1088:Bfar UTSW 16 13697460 missense probably damaging 0.99
Z1177:Bfar UTSW 16 13688810 missense probably benign 0.03
Posted On2012-04-20