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
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01154
Quality Score
Status
Chromosome 2
Chromosomal Location 154142880-154149219 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154144000 bp (GRCm38)
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

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
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: 76,950,275 V124I probably damaging Het
2210408I21Rik T G 13: 77,281,094 F767V probably benign Het
A2m C A 6: 121,673,542 S1203* probably null Het
Abcc3 T C 11: 94,359,232 probably benign Het
Adamts13 T C 2: 27,006,194 Y1200H probably benign Het
Aldh1l2 T C 10: 83,520,373 D51G probably damaging Het
Apc2 A G 10: 80,313,069 E1319G possibly damaging Het
Arap3 A T 18: 37,996,734 S125T probably benign Het
Atp2b1 T A 10: 98,996,888 V417E probably damaging Het
Catsperb C A 12: 101,625,681 A1090E possibly damaging Het
Ceacam9 C A 7: 16,723,961 T138K probably damaging Het
Cenpf T A 1: 189,680,333 E244D probably benign Het
Cep135 A T 5: 76,606,796 probably benign Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Col15a1 A C 4: 47,208,450 T6P possibly damaging Het
Cyp11b1 T A 15: 74,838,534 Q306L probably benign Het
Defa22 T A 8: 21,163,037 probably null Het
Dnah5 A T 15: 28,458,656 T4480S possibly damaging Het
Fastkd1 T C 2: 69,690,060 probably null Het
Flt1 A G 5: 147,576,156 Y1124H possibly damaging Het
Fsd1l A G 4: 53,701,074 M469V probably benign Het
Fxr2 T C 11: 69,641,433 probably benign Het
Gm10801 A T 2: 98,663,983 Y135F probably benign Het
Grm4 A T 17: 27,434,737 C699* probably null Het
Hcn4 A G 9: 58,859,079 T677A unknown Het
Igkv9-123 G T 6: 67,954,534 probably benign Het
Irf4 T A 13: 30,757,421 H253Q possibly damaging Het
Jakmip2 T C 18: 43,590,679 probably benign Het
Kmt2c A G 5: 25,284,399 V1134A probably damaging Het
Limch1 G T 5: 66,745,958 E17* probably null Het
Nap1l1 T A 10: 111,486,675 N72K probably damaging Het
Olfr1265 T C 2: 90,037,468 L183P probably damaging Het
Olfr574 T C 7: 102,948,839 S115P probably damaging Het
Otud6b A T 4: 14,811,732 Y304N probably damaging Het
Pdcd10 A C 3: 75,541,233 M8R probably damaging Het
Ppip5k1 T C 2: 121,343,179 T404A probably damaging Het
Ppp2r2d C T 7: 138,882,211 A197V probably benign Het
Psg25 C T 7: 18,524,699 D351N probably benign Het
Sbno1 A T 5: 124,410,249 I87N probably damaging Het
Stfa2l1 C T 16: 36,159,937 probably benign Het
Sugp2 T A 8: 70,242,699 D107E probably damaging Het
Syne1 G T 10: 5,360,848 F576L probably damaging Het
Syne3 A G 12: 104,958,069 F357S probably benign Het
Tenm2 A G 11: 36,041,544 L1741P probably damaging Het
Tgs1 A T 4: 3,585,473 K117* probably null Het
Tram1 C T 1: 13,579,449 probably null Het
Trank1 T A 9: 111,386,400 D1799E probably benign Het
Ttc14 A T 3: 33,803,099 Y198F probably benign Het
Ube3b A G 5: 114,406,252 N570S probably null Het
Ube4b A G 4: 149,365,470 F412S probably benign Het
Vac14 T C 8: 110,653,607 probably benign Het
Vmn2r65 T C 7: 84,943,521 T493A probably benign Het
Zfp408 T C 2: 91,648,006 probably benign Het
Zfp580 C T 7: 5,053,268 T209I possibly damaging Het
Other mutations in Bpifa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03065:Bpifa1 APN 2 154147642 missense probably damaging 1.00
R0226:Bpifa1 UTSW 2 154146057 missense probably benign 0.03
R1946:Bpifa1 UTSW 2 154145634 missense probably damaging 1.00
R1986:Bpifa1 UTSW 2 154144336 missense probably damaging 1.00
R5608:Bpifa1 UTSW 2 154147575 intron probably benign
R5868:Bpifa1 UTSW 2 154143876 missense unknown
R6122:Bpifa1 UTSW 2 154143972 missense probably benign 0.11
R6297:Bpifa1 UTSW 2 154144260 missense probably benign 0.01
R6315:Bpifa1 UTSW 2 154146076 missense possibly damaging 0.48
R6965:Bpifa1 UTSW 2 154145661 missense probably damaging 1.00
R8154:Bpifa1 UTSW 2 154145734 missense possibly damaging 0.47
R8183:Bpifa1 UTSW 2 154146119 missense possibly damaging 0.91
R9214:Bpifa1 UTSW 2 154143869 missense unknown
R9221:Bpifa1 UTSW 2 154146132 missense possibly damaging 0.63
R9435:Bpifa1 UTSW 2 154143923 missense unknown
X0017:Bpifa1 UTSW 2 154146151 missense probably benign 0.29
Posted On 2013-06-21