Incidental Mutation 'A4554:Bpifb5'
ID 94
Institutional Source Beutler Lab
Gene Symbol Bpifb5
Ensembl Gene ENSMUSG00000038572
Gene Name BPI fold containing family B, member 5
Synonyms BC018465
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # A4554 of strain gemini
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 154065662-154082822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 154069100 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Tyrosine to Phenylalanine at position 139 (Y139F)
Ref Sequence ENSEMBL: ENSMUSP00000046683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045959]
AlphaFold Q3UQ05
Predicted Effect possibly damaging
Transcript: ENSMUST00000045959
AA Change: Y139F

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
AA Change: Y139F

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
coiled coil region 26 54 N/A INTRINSIC
Pfam:LBP_BPI_CETP 94 231 7.6e-14 PFAM
Blast:BPI2 291 488 4e-91 BLAST
SCOP:d1ewfa2 433 486 8e-3 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 85.5%
  • 3x: 63.0%
Validation Efficiency 84% (92/109)
Allele List at MGI

All alleles(1) : Targeted, other(1)
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap1 T C 15: 63,996,560 (GRCm39) probably benign Het
Chd2 A C 7: 73,130,716 (GRCm39) V782G probably benign Homo
Chst4 G T 8: 110,756,520 (GRCm39) Q448K probably benign Homo
Dido1 T C 2: 180,317,164 (GRCm39) K8E probably damaging Homo
Evpl A G 11: 116,111,660 (GRCm39) L2010P probably damaging Homo
Fgl2 A G 5: 21,577,776 (GRCm39) E21G probably benign Homo
Greb1l A T 18: 10,532,862 (GRCm39) M919L possibly damaging Homo
Kel T A 6: 41,674,353 (GRCm39) D359V possibly damaging Homo
Lmtk2 A G 5: 144,103,135 (GRCm39) D298G possibly damaging Homo
Masp1 A T 16: 23,273,690 (GRCm39) probably null Homo
Mrgprb8 A T 7: 48,039,156 (GRCm39) I276F probably damaging Homo
Nde1 T C 16: 14,006,274 (GRCm39) probably benign Homo
Rbck1 G T 2: 152,161,092 (GRCm39) N385K probably damaging Homo
Senp6 G T 9: 80,055,740 (GRCm39) probably benign Het
Tm4sf4 T A 3: 57,345,188 (GRCm39) probably null Homo
Ubn2 A T 6: 38,461,045 (GRCm39) H488L probably damaging Homo
Vmn2r120 A G 17: 57,832,715 (GRCm39) F155L probably benign Homo
Vmn2r65 T A 7: 84,595,791 (GRCm39) T298S probably damaging Homo
Other mutations in Bpifb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Bpifb5 APN 2 154,075,169 (GRCm39) missense possibly damaging 0.86
IGL01676:Bpifb5 APN 2 154,070,969 (GRCm39) missense possibly damaging 0.71
IGL02065:Bpifb5 APN 2 154,069,103 (GRCm39) missense probably damaging 0.98
IGL02141:Bpifb5 APN 2 154,071,477 (GRCm39) splice site probably null
IGL02244:Bpifb5 APN 2 154,067,068 (GRCm39) missense possibly damaging 0.93
IGL03118:Bpifb5 APN 2 154,078,673 (GRCm39) splice site probably benign
R0022:Bpifb5 UTSW 2 154,072,268 (GRCm39) missense probably damaging 0.98
R0492:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0654:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0692:Bpifb5 UTSW 2 154,076,616 (GRCm39) missense probably benign 0.33
R0707:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0898:Bpifb5 UTSW 2 154,075,254 (GRCm39) missense probably benign
R1534:Bpifb5 UTSW 2 154,071,419 (GRCm39) missense possibly damaging 0.86
R1539:Bpifb5 UTSW 2 154,065,776 (GRCm39) missense probably benign
R1874:Bpifb5 UTSW 2 154,069,122 (GRCm39) splice site probably benign
R1971:Bpifb5 UTSW 2 154,072,264 (GRCm39) missense probably benign 0.18
R2001:Bpifb5 UTSW 2 154,075,199 (GRCm39) missense possibly damaging 0.53
R3013:Bpifb5 UTSW 2 154,070,775 (GRCm39) missense possibly damaging 0.59
R3916:Bpifb5 UTSW 2 154,070,101 (GRCm39) missense probably benign
R4499:Bpifb5 UTSW 2 154,082,678 (GRCm39) missense possibly damaging 0.53
R5250:Bpifb5 UTSW 2 154,066,881 (GRCm39) missense probably benign
R6301:Bpifb5 UTSW 2 154,072,139 (GRCm39) missense possibly damaging 0.73
R6836:Bpifb5 UTSW 2 154,069,985 (GRCm39) missense probably benign 0.02
R6869:Bpifb5 UTSW 2 154,075,143 (GRCm39) missense probably benign 0.33
R7014:Bpifb5 UTSW 2 154,066,876 (GRCm39) nonsense probably null
R7300:Bpifb5 UTSW 2 154,070,066 (GRCm39) missense possibly damaging 0.85
R7427:Bpifb5 UTSW 2 154,067,042 (GRCm39) missense probably benign
R7428:Bpifb5 UTSW 2 154,067,042 (GRCm39) missense probably benign
R7439:Bpifb5 UTSW 2 154,070,853 (GRCm39) missense possibly damaging 0.71
R7448:Bpifb5 UTSW 2 154,072,105 (GRCm39) missense possibly damaging 0.53
R7935:Bpifb5 UTSW 2 154,070,975 (GRCm39) missense probably benign 0.01
R8964:Bpifb5 UTSW 2 154,072,198 (GRCm39) missense possibly damaging 0.96
R9049:Bpifb5 UTSW 2 154,070,096 (GRCm39) missense probably benign 0.00
R9058:Bpifb5 UTSW 2 154,080,817 (GRCm39) missense possibly damaging 0.85
R9349:Bpifb5 UTSW 2 154,067,005 (GRCm39) missense possibly damaging 0.96
T0975:Bpifb5 UTSW 2 154,071,384 (GRCm39) splice site probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to T transversion at position 459 of the BC018465transcript.  The mutated nucleotide causes a tyrosine to phenylanine substitution at amino acid 139 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The BC018465 gene encodes a predicted 490 amino acid lipid-binding serum glycoprotein. This protein is predicted to contain a signal peptide and an N-terminal domain at amino acids 83-232 characteristic of the protein family. These proteins also contain a C-terminal domain that has no sequence homology, but the same structure as the N-terminal domain. Interestingly, some of the proteins containing this domain are implicated in immunity by binding to and neutralizing lipopolysaccharides.  
 
The Y139F change is predicted to be benign by the PolyPhen program.
Posted On 2010-03-16