Incidental Mutation 'R4819:Bfar'
ID 370078
Institutional Source Beutler Lab
Gene Symbol Bfar
Ensembl Gene ENSMUSG00000022684
Gene Name bifunctional apoptosis regulator
Synonyms RNF47
MMRRC Submission 042000-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R4819 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 13489722-13521476 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 13505331 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 114 (Q114*)
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 null
Transcript: ENSMUST00000023365
AA Change: Q114*
SMART Domains Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684
AA Change: Q114*

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 null
Transcript: ENSMUST00000127973
AA Change: Q114*
SMART Domains Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684
AA Change: Q114*

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
  • 1x: 99.0%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T A 11: 9,240,421 (GRCm39) N761K possibly damaging Het
Adgrf3 T A 5: 30,403,442 (GRCm39) L444F possibly damaging Het
Akap8 G A 17: 32,531,279 (GRCm39) R378W probably damaging Het
Amotl2 C T 9: 102,607,270 (GRCm39) R693W probably damaging Het
As3mt G T 19: 46,695,968 (GRCm39) probably benign Het
Atp6v1e2 A G 17: 87,251,966 (GRCm39) V144A probably benign Het
Casd1 C T 6: 4,621,225 (GRCm39) A261V probably damaging Het
Cd177 A T 7: 24,451,696 (GRCm39) I440K probably damaging Het
Cfap54 G T 10: 92,672,339 (GRCm39) Y2910* probably null Het
Csl A G 10: 99,593,944 (GRCm39) F374L possibly damaging Het
Dctn1 G A 6: 83,167,501 (GRCm39) R275H probably damaging Het
Derl3 A G 10: 75,729,713 (GRCm39) probably null Het
Dst A G 1: 34,007,916 (GRCm39) I117V probably benign Het
Edc3 T A 9: 57,655,680 (GRCm39) C477S possibly damaging Het
Efs T C 14: 55,154,610 (GRCm39) E450G probably damaging Het
Fcrla T A 1: 170,748,508 (GRCm39) I212F probably damaging Het
Fsip2 A G 2: 82,818,786 (GRCm39) I4840V probably benign Het
Gpam T A 19: 55,066,773 (GRCm39) I581F probably benign Het
Greb1l A G 18: 10,458,358 (GRCm39) D45G probably damaging Het
Heca A G 10: 17,783,820 (GRCm39) Y478H probably damaging Het
Hspa9 C T 18: 35,072,441 (GRCm39) M561I probably damaging Het
Hyal6 T A 6: 24,734,965 (GRCm39) Y299* probably null Het
Iho1 A G 9: 108,283,877 (GRCm39) V189A probably benign Het
Ik T A 18: 36,886,310 (GRCm39) probably null Het
Khsrp A G 17: 57,330,360 (GRCm39) S582P possibly damaging Het
Kif18a A G 2: 109,122,471 (GRCm39) D182G probably damaging Het
Krt1c T C 15: 101,719,979 (GRCm39) T564A unknown Het
Lig4 A G 8: 10,021,885 (GRCm39) S632P probably benign Het
Med1 C T 11: 98,046,258 (GRCm39) probably benign Het
Mgat3 T A 15: 80,096,550 (GRCm39) I459N probably damaging Het
Mkln1 A T 6: 31,451,421 (GRCm39) Q454L probably benign Het
Mn1 A G 5: 111,567,803 (GRCm39) E591G possibly damaging Het
Myo5c T A 9: 75,199,484 (GRCm39) L1364Q probably damaging Het
Oas1d T C 5: 121,053,780 (GRCm39) V80A probably damaging Het
Obscn A T 11: 58,929,674 (GRCm39) D5180E probably damaging Het
Pax6 G A 2: 105,522,622 (GRCm39) probably null Het
Pcdh15 A C 10: 74,160,221 (GRCm39) N446T probably damaging Het
Pcnx2 A T 8: 126,581,969 (GRCm39) F922L probably benign Het
Ptpn4 G T 1: 119,587,580 (GRCm39) T921K probably benign Het
Selenov A G 7: 27,989,746 (GRCm39) probably null Het
Tmem100 A G 11: 89,926,271 (GRCm39) T33A probably benign Het
Tmem59 C T 4: 107,044,878 (GRCm39) Q66* probably null Het
Trav21-dv12 T A 14: 54,114,070 (GRCm39) Y63* probably null Het
Trim66 G T 7: 109,056,793 (GRCm39) H1121Q probably damaging Het
Trim80 A G 11: 115,338,769 (GRCm39) Y533C probably damaging Het
Ttc17 G A 2: 94,194,955 (GRCm39) P520L probably damaging Het
Ttn A T 2: 76,622,093 (GRCm39) V15483E probably damaging Het
Vinac1 G T 2: 128,882,721 (GRCm39) N98K probably damaging Het
Zdhhc1 CGGGGG CGGGGGG 8: 106,210,376 (GRCm39) probably null Het
Zfhx4 C A 3: 5,468,974 (GRCm39) T3069K probably benign Het
Zfp281 A G 1: 136,553,448 (GRCm39) H142R probably benign Het
Zfp462 G T 4: 55,060,044 (GRCm39) R1190L probably damaging Het
Zfp935 T A 13: 62,602,231 (GRCm39) H323L 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
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
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
Predicted Primers PCR Primer
(F):5'- GCTGTTTCCTTAGTGGTAGCAC -3'
(R):5'- AAGAACTGACTTCAGAGGCAAC -3'

Sequencing Primer
(F):5'- AAGCAGAACTCTTTGTTGCTC -3'
(R):5'- AACTGGGGGTTGACGCAC -3'
Posted On 2016-02-04