Incidental Mutation 'IGL01532:Bfar'
ID 278559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bfar
Ensembl Gene ENSMUSG00000022684
Gene Name bifunctional apoptosis regulator
Synonyms RNF47
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # IGL01532
Quality Score
Status
Chromosome 16
Chromosomal Location 13489722-13521476 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 13505251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000069281] [ENSMUST00000127973]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000023365
SMART Domains Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684

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 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: 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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,558,349 (GRCm39) N264K probably damaging Het
Adgrl3 C T 5: 81,842,416 (GRCm39) T260I probably damaging Het
Ambra1 G T 2: 91,715,977 (GRCm39) K769N probably damaging Het
Arel1 A G 12: 84,980,936 (GRCm39) V357A possibly damaging Het
Atp11b T A 3: 35,903,651 (GRCm39) C76* probably null Het
AW112010 C A 19: 11,025,433 (GRCm39) noncoding transcript Het
Ccdc70 T G 8: 22,463,299 (GRCm39) L30V probably damaging Het
Cep20 A G 16: 14,122,375 (GRCm39) S130P probably benign Het
Chrm5 C T 2: 112,309,577 (GRCm39) R513Q probably benign Het
Crem G A 18: 3,276,732 (GRCm39) T7I probably benign Het
Cyp4f39 C T 17: 32,689,928 (GRCm39) probably benign Het
Dlg5 T C 14: 24,208,660 (GRCm39) T849A probably benign Het
Dock8 G T 19: 25,146,805 (GRCm39) G1428V probably damaging Het
Eomes T C 9: 118,311,317 (GRCm39) I380T probably damaging Het
Fam13a T C 6: 58,917,280 (GRCm39) D532G probably damaging Het
Gm10061 G T 16: 88,948,190 (GRCm39) *55L probably null Het
Gm27438 T G 2: 87,083,269 (GRCm39) probably benign Het
Gpalpp1 T C 14: 76,339,942 (GRCm39) K124E probably benign Het
Hgs T A 11: 120,368,335 (GRCm39) probably null Het
Hpn T A 7: 30,802,938 (GRCm39) M121L possibly damaging Het
Il1r1 T C 1: 40,334,088 (GRCm39) probably null Het
Jag2 A T 12: 112,877,983 (GRCm39) C583S probably damaging Het
Katnal2 T C 18: 77,099,696 (GRCm39) H146R probably benign Het
Ldah T C 12: 8,270,596 (GRCm39) probably benign Het
Lvrn T A 18: 47,033,551 (GRCm39) Y921N probably damaging Het
Muc5b A G 7: 141,423,743 (GRCm39) Y4572C possibly damaging Het
Myo16 A G 8: 10,450,551 (GRCm39) S518G probably benign Het
Ncf1 T C 5: 134,255,447 (GRCm39) N148S probably benign Het
Nes T G 3: 87,885,654 (GRCm39) D1260E possibly damaging Het
Nup210 C A 6: 91,062,981 (GRCm39) probably benign Het
Or52b4i T C 7: 102,191,863 (GRCm39) L240P probably damaging Het
Rnf31 C A 14: 55,840,080 (GRCm39) Q968K probably damaging Het
Ros1 A G 10: 51,967,034 (GRCm39) probably benign Het
Ryk T C 9: 102,774,465 (GRCm39) Y400H probably benign Het
Slc4a5 T A 6: 83,250,022 (GRCm39) probably null Het
Sptssb A G 3: 69,728,202 (GRCm39) probably benign Het
Sstr5 T C 17: 25,710,305 (GRCm39) D308G probably damaging Het
Taf2 A G 15: 54,912,882 (GRCm39) W493R possibly damaging Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vti1b A C 12: 79,211,912 (GRCm39) L1W probably null Het
Wdr1 T C 5: 38,692,530 (GRCm39) Y125C probably 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
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
R7758:Bfar UTSW 16 13,519,985 (GRCm39) missense possibly damaging 0.66
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
Posted On 2015-04-16