Incidental Mutation 'IGL01154:Bpifa1'
ID 50663
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifa1
Ensembl Gene ENSMUSG00000027483
Gene Name BPI fold containing family A, member 1
Synonyms SPLUNC1, Plunc
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01154
Quality Score
Chromosome 2
Chromosomal Location 153984800-153991137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153985920 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 78 (D78E)
Ref Sequence ENSEMBL: ENSMUSP00000028985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028985]
AlphaFold P97361
Predicted Effect probably benign
Transcript: ENSMUST00000028985
AA Change: D78E

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483
AA Change: D78E

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
Coding Region Coverage
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
2210408I21Rik T G 13: 77,429,213 (GRCm39) F767V probably benign Het
A2m C A 6: 121,650,501 (GRCm39) S1203* probably null Het
Abcc3 T C 11: 94,250,058 (GRCm39) probably benign Het
Adamts13 T C 2: 26,896,206 (GRCm39) Y1200H probably benign Het
Aldh1l2 T C 10: 83,356,237 (GRCm39) D51G probably damaging Het
Apc2 A G 10: 80,148,903 (GRCm39) E1319G possibly damaging Het
Arap3 A T 18: 38,129,787 (GRCm39) S125T probably benign Het
Atp2b1 T A 10: 98,832,750 (GRCm39) V417E probably damaging Het
Catsperb C A 12: 101,591,940 (GRCm39) A1090E possibly damaging Het
Ceacam9 C A 7: 16,457,886 (GRCm39) T138K probably damaging Het
Cenpf T A 1: 189,412,530 (GRCm39) E244D probably benign Het
Cep135 A T 5: 76,754,643 (GRCm39) probably benign Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Col15a1 A C 4: 47,208,450 (GRCm39) T6P possibly damaging Het
Cyp11b1 T A 15: 74,710,383 (GRCm39) Q306L probably benign Het
Defa22 T A 8: 21,653,053 (GRCm39) probably null Het
Dnah5 A T 15: 28,458,802 (GRCm39) T4480S possibly damaging Het
Fastkd1 T C 2: 69,520,404 (GRCm39) probably null Het
Flt1 A G 5: 147,512,966 (GRCm39) Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 (GRCm39) M469V probably benign Het
Fxr2 T C 11: 69,532,259 (GRCm39) probably benign Het
Gm10801 A T 2: 98,494,328 (GRCm39) Y135F probably benign Het
Grm4 A T 17: 27,653,711 (GRCm39) C699* probably null Het
Hcn4 A G 9: 58,766,362 (GRCm39) T677A unknown Het
Igkv9-123 G T 6: 67,931,518 (GRCm39) probably benign Het
Irf4 T A 13: 30,941,404 (GRCm39) H253Q possibly damaging Het
Jakmip2 T C 18: 43,723,744 (GRCm39) probably benign Het
Kmt2c A G 5: 25,489,397 (GRCm39) V1134A probably damaging Het
Limch1 G T 5: 66,903,301 (GRCm39) E17* probably null Het
Nap1l1 T A 10: 111,322,536 (GRCm39) N72K probably damaging Het
Or4x11 T C 2: 89,867,812 (GRCm39) L183P probably damaging Het
Or51t4 T C 7: 102,598,046 (GRCm39) S115P probably damaging Het
Otud6b A T 4: 14,811,732 (GRCm39) Y304N probably damaging Het
Pdcd10 A C 3: 75,448,540 (GRCm39) M8R probably damaging Het
Ppip5k1 T C 2: 121,173,660 (GRCm39) T404A probably damaging Het
Ppp2r2d C T 7: 138,483,940 (GRCm39) A197V probably benign Het
Psg25 C T 7: 18,258,624 (GRCm39) D351N probably benign Het
Sbno1 A T 5: 124,548,312 (GRCm39) I87N probably damaging Het
Stfa2l1 C T 16: 35,980,307 (GRCm39) probably benign Het
Sugp2 T A 8: 70,695,349 (GRCm39) D107E probably damaging Het
Syne1 G T 10: 5,310,848 (GRCm39) F576L probably damaging Het
Syne3 A G 12: 104,924,328 (GRCm39) F357S probably benign Het
Tenm2 A G 11: 35,932,371 (GRCm39) L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 (GRCm39) K117* probably null Het
Tram1 C T 1: 13,649,673 (GRCm39) probably null Het
Trank1 T A 9: 111,215,468 (GRCm39) D1799E probably benign Het
Ttc14 A T 3: 33,857,248 (GRCm39) Y198F probably benign Het
Ube3b A G 5: 114,544,313 (GRCm39) N570S probably null Het
Ube4b A G 4: 149,449,927 (GRCm39) F412S probably benign Het
Vac14 T C 8: 111,380,239 (GRCm39) probably benign Het
Vmn2r65 T C 7: 84,592,729 (GRCm39) T493A probably benign Het
Zfp408 T C 2: 91,478,351 (GRCm39) probably benign Het
Zfp580 C T 7: 5,056,267 (GRCm39) T209I possibly damaging Het
Other mutations in Bpifa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-06-21