Incidental Mutation 'IGL03189:Bfar'
ID412571
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: 0.177) question?
Stock #IGL03189
Quality Score
Status
Chromosome16
Chromosomal Location13671858-13703612 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 13687501 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 125 (D125G)
Ref Sequence ENSEMBL: ENSMUSP00000115585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000069281] [ENSMUST00000127973]
Predicted Effect possibly damaging
Transcript: ENSMUST00000023365
AA Change: D125G

PolyPhen 2 Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: D125G

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
SMART Domains Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684

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 possibly damaging
Transcript: ENSMUST00000127973
AA Change: D125G

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684
AA Change: D125G

DomainStartEndE-ValueType
RING 34 73 2.71e-6 SMART
transmembrane domain 142 161 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132349
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148079
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154568
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930412O13Rik A G 2: 9,883,823 probably benign Het
Abcb1b A G 5: 8,845,814 T916A probably benign Het
Adam22 A T 5: 8,111,897 Y50* probably null Het
Adprhl2 T C 4: 126,317,294 probably benign Het
Ahnak G A 19: 9,011,239 V3296M possibly damaging Het
Bmp3 A T 5: 98,872,720 Q334L probably benign Het
Camsap2 A T 1: 136,281,662 D697E probably damaging Het
Car11 A G 7: 45,702,455 T103A probably damaging Het
Cecr2 T A 6: 120,762,430 S1373T probably benign Het
Cenpm A G 15: 82,234,433 V160A possibly damaging Het
Chl1 A T 6: 103,683,207 I365F possibly damaging Het
Col20a1 C T 2: 181,009,407 Q1089* probably null Het
Csf1r A T 18: 61,105,986 T13S probably benign Het
Fam13a T C 6: 58,956,858 E249G probably damaging Het
Fgd6 G A 10: 94,044,456 V391I probably benign Het
Fhdc1 G A 3: 84,455,061 probably benign Het
Fn3krp T C 11: 121,429,630 I267T probably damaging Het
Fras1 A T 5: 96,743,071 I2820F probably benign Het
Fyb2 A G 4: 105,015,742 I771V probably damaging Het
Glis1 A G 4: 107,615,051 Y275C probably damaging Het
Hdgf A G 3: 87,913,428 T62A possibly damaging Het
Hsd17b3 C T 13: 64,063,087 probably null Het
Iqgap1 T A 7: 80,713,842 Y1655F probably benign Het
Izumo1 A G 7: 45,625,164 D181G probably damaging Het
Lrp2 T C 2: 69,438,478 probably benign Het
Mark1 T C 1: 184,919,693 N95S probably damaging Het
Mbd5 A G 2: 49,257,751 K658E probably damaging Het
Mcm6 C T 1: 128,344,302 D453N probably damaging Het
Mfsd14a T C 3: 116,641,855 D187G probably benign Het
Mrpl19 G T 6: 81,961,993 S276* probably null Het
Ncoa2 G A 1: 13,190,136 T105M probably damaging Het
Nop14 A G 5: 34,650,628 probably benign Het
Olfr1018 A G 2: 85,823,558 T196A probably benign Het
Olfr1152 G A 2: 87,868,215 A75T possibly damaging Het
Olfr170 T C 16: 19,606,591 T26A probably benign Het
Otud7b G A 3: 96,155,478 S678N probably benign Het
Pcdhb6 G A 18: 37,336,152 V25M probably damaging Het
Prpf39 G T 12: 65,043,302 G5* probably null Het
Serpinb9d T C 13: 33,202,912 V321A probably damaging Het
Sh2b1 A G 7: 126,468,530 S613P possibly damaging Het
Snx30 T C 4: 59,857,452 I55T probably benign Het
Spata13 T C 14: 60,691,614 I207T possibly damaging Het
Suco T C 1: 161,857,337 probably benign Het
Svs2 A G 2: 164,237,112 S292P possibly damaging Het
Tcam1 A G 11: 106,285,386 I313V probably benign Het
Tmem45a A T 16: 56,811,573 Y227* probably null Het
Tnfsf15 A G 4: 63,730,052 probably benign Het
Ttc26 C T 6: 38,425,231 P553S probably benign Het
Vmn2r4 C A 3: 64,389,168 R732L possibly damaging Het
Wdr7 C T 18: 63,760,601 T602I probably benign Het
Other mutations in Bfar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Bfar APN 16 13698963 missense probably benign 0.03
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
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 On2016-08-02