Incidental Mutation 'R6297:Bpifa1'
ID 508824
Institutional Source Beutler Lab
Gene Symbol Bpifa1
Ensembl Gene ENSMUSG00000027483
Gene Name BPI fold containing family A, member 1
Synonyms SPLUNC1, Plunc
MMRRC Submission 044464-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6297 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153984800-153991137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153986180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 102 (I102V)
Ref Sequence ENSEMBL: ENSMUSP00000028985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028985]
AlphaFold P97361
Predicted Effect probably benign
Transcript: ENSMUST00000028985
AA Change: I102V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483
AA Change: I102V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:LBP_BPI_CETP 83 256 2e-43 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140006
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144665
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (45/46)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is the human homolog of murine plunc, and like the mouse gene, is specifically expressed in the upper airways and nasopharyngeal regions. The encoded antimicrobial protein displays antibacterial activity against Gram-negative bacteria. It is thought to be involved in inflammatory responses to irritants in the upper airways and may also serve as a potential molecular marker for detection of micrometastasis in non-small-cell lung cancer. Multiple transcript variants resulting from alternative splicing in the 3' UTR have been detected, but the full-length nature of only three are known. [provided by RefSeq, Aug 2014]
PHENOTYPE: Mice homozygous for a knock-out or ENU-induced allele exhibit increased susceptiblity to Mycoplasma pneumoniae infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,926,179 (GRCm39) V1205A probably benign Het
Adgra3 G A 5: 50,118,189 (GRCm39) P1120S probably benign Het
Ate1 A G 7: 130,105,570 (GRCm39) V316A probably damaging Het
Catsperb A G 12: 101,557,655 (GRCm39) probably null Het
Ccdc47 T C 11: 106,094,427 (GRCm39) Y324C probably damaging Het
Cdh22 T C 2: 164,985,564 (GRCm39) K341E possibly damaging Het
Cenpb A G 2: 131,020,289 (GRCm39) probably benign Het
Dgkd A G 1: 87,853,866 (GRCm39) I570V possibly damaging Het
Dhx32 A T 7: 133,344,529 (GRCm39) Y27N probably damaging Het
Dnah10 A G 5: 124,852,144 (GRCm39) D1824G possibly damaging Het
Fbxo8 T A 8: 57,022,323 (GRCm39) C112S probably damaging Het
Fndc3a T C 14: 72,800,980 (GRCm39) D590G probably damaging Het
Gm19965 T A 1: 116,750,410 (GRCm39) I697N possibly damaging Het
Greb1l G A 18: 10,469,494 (GRCm39) D170N probably damaging Het
Haus5 C T 7: 30,358,401 (GRCm39) W298* probably null Het
Igfn1 A T 1: 135,892,399 (GRCm39) probably null Het
Ighg2b T C 12: 113,270,512 (GRCm39) E206G unknown Het
Ints15 A T 5: 143,293,787 (GRCm39) L230Q possibly damaging Het
Lman2 T C 13: 55,496,244 (GRCm39) N267S probably damaging Het
Lrfn5 A T 12: 61,890,348 (GRCm39) I546F probably benign Het
Lrrc4c T C 2: 97,459,964 (GRCm39) S197P probably damaging Het
Mbtd1 C T 11: 93,823,058 (GRCm39) H493Y possibly damaging Het
Mdga2 A G 12: 66,553,027 (GRCm39) Y793H probably damaging Het
Mdn1 C T 4: 32,730,054 (GRCm39) R2799* probably null Het
Mup13 T A 4: 61,181,634 (GRCm39) I148F probably benign Het
Or2aj5 A C 16: 19,424,680 (GRCm39) V246G possibly damaging Het
Or5m10 A G 2: 85,717,159 (GRCm39) N5S probably benign Het
Or8g53 A T 9: 39,683,522 (GRCm39) D191E possibly damaging Het
Pdgfra A G 5: 75,334,135 (GRCm39) K403E possibly damaging Het
Pigz A T 16: 31,763,755 (GRCm39) Y271F probably damaging Het
Plekhg4 T C 8: 106,104,472 (GRCm39) L517P probably damaging Het
Rnf20 T C 4: 49,642,132 (GRCm39) L232P probably damaging Het
Rpa3 C A 6: 8,256,767 (GRCm39) G71* probably null Het
Rsf1 GCG GCGACGGCGTCG 7: 97,229,114 (GRCm39) probably benign Het
Rubcnl A G 14: 75,287,584 (GRCm39) T623A probably benign Het
Sltm A G 9: 70,488,641 (GRCm39) D597G probably damaging Het
Stpg2 T C 3: 139,407,432 (GRCm39) V528A possibly damaging Het
Supt6 C T 11: 78,116,885 (GRCm39) R589Q possibly damaging Het
Tas1r2 T A 4: 139,389,361 (GRCm39) M419K possibly damaging Het
Txndc16 T C 14: 45,389,243 (GRCm39) T486A probably benign Het
Vamp9 A G 5: 100,089,092 (GRCm39) Y119C probably damaging Het
Vmn1r185 A G 7: 26,311,046 (GRCm39) V153A probably benign Het
Vmn2r48 T C 7: 9,668,807 (GRCm39) N548D probably damaging Het
Washc5 A G 15: 59,215,895 (GRCm39) I378T possibly damaging Het
Wdr37 A G 13: 8,892,764 (GRCm39) probably null Het
Xrn2 G A 2: 146,868,490 (GRCm39) R181H probably damaging Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Other mutations in Bpifa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01154:Bpifa1 APN 2 153,985,920 (GRCm39) missense probably benign 0.02
IGL03065:Bpifa1 APN 2 153,989,562 (GRCm39) missense probably damaging 1.00
R0226:Bpifa1 UTSW 2 153,987,977 (GRCm39) missense probably benign 0.03
R1946:Bpifa1 UTSW 2 153,987,554 (GRCm39) missense probably damaging 1.00
R1986:Bpifa1 UTSW 2 153,986,256 (GRCm39) missense probably damaging 1.00
R5608:Bpifa1 UTSW 2 153,989,495 (GRCm39) intron probably benign
R5868:Bpifa1 UTSW 2 153,985,796 (GRCm39) missense unknown
R6122:Bpifa1 UTSW 2 153,985,892 (GRCm39) missense probably benign 0.11
R6315:Bpifa1 UTSW 2 153,987,996 (GRCm39) missense possibly damaging 0.48
R6965:Bpifa1 UTSW 2 153,987,581 (GRCm39) missense probably damaging 1.00
R8154:Bpifa1 UTSW 2 153,987,654 (GRCm39) missense possibly damaging 0.47
R8183:Bpifa1 UTSW 2 153,988,039 (GRCm39) missense possibly damaging 0.91
R9214:Bpifa1 UTSW 2 153,985,789 (GRCm39) missense unknown
R9221:Bpifa1 UTSW 2 153,988,052 (GRCm39) missense possibly damaging 0.63
R9435:Bpifa1 UTSW 2 153,985,843 (GRCm39) missense unknown
X0017:Bpifa1 UTSW 2 153,988,071 (GRCm39) missense probably benign 0.29
Predicted Primers PCR Primer
(F):5'- TCCAATCTCGCAATACCAGG -3'
(R):5'- AGGCTTGTCCCAGGGATAATAGC -3'

Sequencing Primer
(F):5'- TCTCGCAATACCAGGAAGGCAG -3'
(R):5'- GTCCCAGGGATAATAGCTTCTGC -3'
Posted On 2018-04-02