Incidental Mutation 'R5868:Bpifa1'
ID 454259
Institutional Source Beutler Lab
Gene Symbol Bpifa1
Ensembl Gene ENSMUSG00000027483
Gene Name BPI fold containing family A, member 1
Synonyms SPLUNC1, Plunc
MMRRC Submission 044076-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5868 (G1)
Quality Score 85
Status Validated
Chromosome 2
Chromosomal Location 153984800-153991137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153985796 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 37 (N37S)
Ref Sequence ENSEMBL: ENSMUSP00000028985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028985]
AlphaFold P97361
Predicted Effect unknown
Transcript: ENSMUST00000028985
AA Change: N37S
SMART Domains Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483
AA Change: N37S

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 0.0869 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.2%
  • 20x: 90.8%
Validation Efficiency 95% (58/61)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810408A11Rik C A 11: 69,788,401 (GRCm39) K394N possibly damaging Het
Adamts18 T A 8: 114,504,380 (GRCm39) Q80L possibly damaging Het
Apbb2 T A 5: 66,609,439 (GRCm39) K69N probably damaging Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
BC035947 T A 1: 78,474,960 (GRCm39) N524I probably damaging Het
Cfap91 T A 16: 38,152,604 (GRCm39) D202V probably damaging Het
Crnkl1 A T 2: 145,760,473 (GRCm39) D648E probably benign Het
Cul5 C A 9: 53,569,973 (GRCm39) G86V probably benign Het
Cyfip1 A C 7: 55,576,061 (GRCm39) D1077A probably damaging Het
Dennd4a T C 9: 64,804,011 (GRCm39) S1117P probably benign Het
Dnaaf8 T C 16: 4,791,932 (GRCm39) noncoding transcript Het
Elmo2 A T 2: 165,136,192 (GRCm39) M618K possibly damaging Het
Fggy A G 4: 95,585,225 (GRCm39) T35A probably damaging Het
Gad2 G A 2: 22,575,079 (GRCm39) probably null Het
Gtf3c2 A C 5: 31,325,425 (GRCm39) F455V possibly damaging Het
H4c16 C T 6: 136,781,292 (GRCm39) G29D probably damaging Het
Hacl1 C A 14: 31,341,873 (GRCm39) A311S probably damaging Het
Kat6b G A 14: 21,684,547 (GRCm39) D611N probably damaging Het
Kifap3 T C 1: 163,693,041 (GRCm39) I611T probably damaging Het
Lrba A G 3: 86,226,911 (GRCm39) Y683C probably damaging Het
Mfsd14a T C 3: 116,427,399 (GRCm39) N413S probably benign Het
Mtmr11 T A 3: 96,078,518 (GRCm39) D691E possibly damaging Het
Mzf1 A T 7: 12,787,116 (GRCm39) F64I probably benign Het
Neu2 G T 1: 87,524,478 (GRCm39) Q154H probably damaging Het
Nid1 T C 13: 13,663,742 (GRCm39) probably null Het
Nod1 C A 6: 54,916,312 (GRCm39) K128N probably damaging Het
Noxred1 T A 12: 87,270,976 (GRCm39) Q215L possibly damaging Het
Npat A G 9: 53,481,424 (GRCm39) E1044G probably damaging Het
Npr1 A G 3: 90,366,800 (GRCm39) probably benign Het
Pdcd6 T C 13: 74,452,133 (GRCm39) D169G probably damaging Het
Pld3 G T 7: 27,237,093 (GRCm39) T262N probably benign Het
Plxna1 T C 6: 89,299,704 (GRCm39) probably benign Het
Prh1 A G 6: 132,549,174 (GRCm39) Q227R unknown Het
Prtg C A 9: 72,716,999 (GRCm39) Y113* probably null Het
Rbm27 T A 18: 42,433,450 (GRCm39) V242E possibly damaging Het
Ripor1 T C 8: 106,342,636 (GRCm39) L198P probably damaging Het
Rnpc3 T C 3: 113,410,360 (GRCm39) probably null Het
Serpinf2 T C 11: 75,324,065 (GRCm39) T321A probably benign Het
Sh3gl1 T C 17: 56,326,119 (GRCm39) D129G probably damaging Het
Slc12a2 C A 18: 58,077,068 (GRCm39) P1189Q probably damaging Het
Slc16a9 T C 10: 70,118,320 (GRCm39) M213T probably benign Het
Spata31f3 A T 4: 42,871,711 (GRCm39) D221E probably damaging Het
Svil G A 18: 5,056,854 (GRCm39) probably null Het
Synpo A G 18: 60,737,118 (GRCm39) L37P probably damaging Het
Tmprss9 A G 10: 80,718,580 (GRCm39) H87R probably benign Het
Tmtc1 A T 6: 148,139,353 (GRCm39) L885Q probably damaging Het
Ttc41 T C 10: 86,586,128 (GRCm39) S811P possibly damaging Het
Vmn2r23 T C 6: 123,689,901 (GRCm39) V259A probably benign Het
Wwox T A 8: 115,406,586 (GRCm39) H192Q probably benign 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
R6122:Bpifa1 UTSW 2 153,985,892 (GRCm39) missense probably benign 0.11
R6297:Bpifa1 UTSW 2 153,986,180 (GRCm39) missense probably benign 0.01
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'- GAGATTCCTCTGATAGCTGTACC -3'
(R):5'- TGCCTTCCTGGTATTGCGAG -3'

Sequencing Primer
(F):5'- CCTCTGATAGCTGTACCATAGAG -3'
(R):5'- TGCGAGATTGGATATACTCAAGCAC -3'
Posted On 2017-02-10