Incidental Mutation 'R0786:Bpifb1'
ID 76839
Institutional Source Beutler Lab
Gene Symbol Bpifb1
Ensembl Gene ENSMUSG00000027485
Gene Name BPI fold containing family B, member 1
Synonyms U46068, LPlunc1, von Ebner minor salivary protein
MMRRC Submission 038966-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0786 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 154032738-154062263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154044581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 16 (A16V)
Ref Sequence ENSEMBL: ENSMUSP00000080501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]
AlphaFold Q61114
Predicted Effect probably benign
Transcript: ENSMUST00000028987
AA Change: A16V

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: A16V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000081816
AA Change: A16V

PolyPhen 2 Score 0.108 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: A16V

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123017
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.6%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adrb3 T C 8: 27,716,880 (GRCm39) probably benign Het
Atg2b T C 12: 105,602,767 (GRCm39) H1592R probably benign Het
Cep57 T A 9: 13,721,166 (GRCm39) Y271F probably damaging Het
Cfap54 A T 10: 92,803,397 (GRCm39) N1548K possibly damaging Het
Chrna6 A T 8: 27,898,408 (GRCm39) D103E probably benign Het
Clec12b T C 6: 129,357,651 (GRCm39) N69S probably benign Het
Col27a1 T C 4: 63,209,815 (GRCm39) probably null Het
Cwh43 T A 5: 73,565,526 (GRCm39) Y30* probably null Het
Dnai7 A G 6: 145,127,483 (GRCm39) probably null Het
Dsg4 T C 18: 20,582,429 (GRCm39) probably null Het
Efna3 T C 3: 89,223,880 (GRCm39) N103S probably damaging Het
Efr3a A G 15: 65,725,400 (GRCm39) D532G possibly damaging Het
Fam227a A T 15: 79,510,469 (GRCm39) V395D probably benign Het
Fes T A 7: 80,036,668 (GRCm39) D93V probably damaging Het
Gbp3 T A 3: 142,276,732 (GRCm39) M510K possibly damaging Het
Gpr12 A T 5: 146,520,314 (GRCm39) S44T probably damaging Het
Gpr179 T C 11: 97,234,100 (GRCm39) N583S probably damaging Het
Hipk1 T C 3: 103,651,620 (GRCm39) T1093A probably benign Het
Hspb1 T C 5: 135,918,097 (GRCm39) L148P probably damaging Het
Kirrel3 A G 9: 34,946,161 (GRCm39) N640S probably damaging Het
Mak G T 13: 41,199,545 (GRCm39) Q365K probably benign Het
Melk A G 4: 44,303,649 (GRCm39) Y14C unknown Het
Myh7 T C 14: 55,230,330 (GRCm39) M1V probably null Het
Nsmf A G 2: 24,950,522 (GRCm39) Y330C probably damaging Het
Parp14 A G 16: 35,661,172 (GRCm39) F1592S possibly damaging Het
Pnpla6 A T 8: 3,573,317 (GRCm39) I394F probably benign Het
Ppl T C 16: 4,906,918 (GRCm39) R1126G probably damaging Het
Prss8 C T 7: 127,525,646 (GRCm39) R291Q probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rasgrp1 G T 2: 117,130,980 (GRCm39) D155E probably benign Het
Recql5 T C 11: 115,786,628 (GRCm39) I563V probably benign Het
Rhbg C T 3: 88,151,875 (GRCm39) M394I probably benign Het
Rnf130 A G 11: 49,978,264 (GRCm39) D275G probably damaging Het
Smg9 T C 7: 24,120,289 (GRCm39) F421S probably benign Het
Tgm2 T C 2: 157,966,301 (GRCm39) E451G probably damaging Het
Tle1 T A 4: 72,117,598 (GRCm39) T21S probably damaging Het
Tmc5 T C 7: 118,226,433 (GRCm39) I266T possibly damaging Het
Tmigd3 T A 3: 105,824,318 (GRCm39) C96S probably damaging Het
Trdn A T 10: 33,181,077 (GRCm39) T361S probably benign Het
Vgll3 A T 16: 65,657,568 (GRCm39) Q261L probably benign Het
Vmn2r104 A T 17: 20,262,987 (GRCm39) I158K probably benign Het
Zfp964 A G 8: 70,116,731 (GRCm39) K444E possibly damaging Het
Other mutations in Bpifb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Bpifb1 APN 2 154,059,087 (GRCm39) splice site probably benign
IGL01516:Bpifb1 APN 2 154,060,172 (GRCm39) missense probably benign 0.03
IGL02047:Bpifb1 APN 2 154,044,536 (GRCm39) start codon destroyed probably null 1.00
IGL02143:Bpifb1 APN 2 154,051,849 (GRCm39) missense probably benign 0.14
IGL03174:Bpifb1 APN 2 154,054,969 (GRCm39) missense probably damaging 1.00
IGL03263:Bpifb1 APN 2 154,057,226 (GRCm39) missense probably benign 0.03
Ectoplasm UTSW 2 154,053,501 (GRCm39) nonsense probably null
R0058:Bpifb1 UTSW 2 154,048,460 (GRCm39) missense possibly damaging 0.54
R0269:Bpifb1 UTSW 2 154,054,867 (GRCm39) missense possibly damaging 0.51
R0617:Bpifb1 UTSW 2 154,054,867 (GRCm39) missense possibly damaging 0.51
R1718:Bpifb1 UTSW 2 154,055,903 (GRCm39) splice site probably null
R3605:Bpifb1 UTSW 2 154,053,485 (GRCm39) missense possibly damaging 0.78
R3607:Bpifb1 UTSW 2 154,053,485 (GRCm39) missense possibly damaging 0.78
R3689:Bpifb1 UTSW 2 154,051,819 (GRCm39) missense probably benign 0.42
R3807:Bpifb1 UTSW 2 154,055,922 (GRCm39) missense probably benign 0.25
R3930:Bpifb1 UTSW 2 154,057,242 (GRCm39) missense possibly damaging 0.89
R4024:Bpifb1 UTSW 2 154,054,966 (GRCm39) missense probably damaging 1.00
R4745:Bpifb1 UTSW 2 154,053,501 (GRCm39) nonsense probably null
R4752:Bpifb1 UTSW 2 154,058,200 (GRCm39) intron probably benign
R5505:Bpifb1 UTSW 2 154,046,699 (GRCm39) missense probably benign 0.00
R5724:Bpifb1 UTSW 2 154,046,712 (GRCm39) missense probably benign
R6281:Bpifb1 UTSW 2 154,048,385 (GRCm39) missense probably damaging 1.00
R7038:Bpifb1 UTSW 2 154,044,589 (GRCm39) missense probably damaging 0.99
R7246:Bpifb1 UTSW 2 154,049,012 (GRCm39) missense probably damaging 1.00
R7540:Bpifb1 UTSW 2 154,055,031 (GRCm39) missense probably damaging 1.00
R7599:Bpifb1 UTSW 2 154,056,071 (GRCm39) missense probably damaging 1.00
R7678:Bpifb1 UTSW 2 154,044,649 (GRCm39) missense possibly damaging 0.74
R7811:Bpifb1 UTSW 2 154,048,484 (GRCm39) splice site probably null
R9031:Bpifb1 UTSW 2 154,051,848 (GRCm39) missense probably benign 0.00
R9120:Bpifb1 UTSW 2 154,046,692 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTCTTAACCACTGCCCTGAATGTC -3'
(R):5'- GGGTCATGGGTCTGGAGTAACAAAC -3'

Sequencing Primer
(F):5'- GAATGTCTCTCCTGGACACTGTG -3'
(R):5'- GGACTGAAGTCACTAGATTCTGCC -3'
Posted On 2013-10-16