Incidental Mutation 'R6122:Bpifa1'
ID 485753
Institutional Source Beutler Lab
Gene Symbol Bpifa1
Ensembl Gene ENSMUSG00000027483
Gene Name BPI fold containing family A, member 1
Synonyms SPLUNC1, Plunc
MMRRC Submission 044269-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6122 (G1)
Quality Score 167.009
Status Validated
Chromosome 2
Chromosomal Location 153984800-153991137 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153985892 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 69 (T69I)
Ref Sequence ENSEMBL: ENSMUSP00000028985 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028985]
AlphaFold P97361
Predicted Effect probably benign
Transcript: ENSMUST00000028985
AA Change: T69I

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028985
Gene: ENSMUSG00000027483
AA Change: T69I

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 0.1176 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.8%
Validation Efficiency 98% (57/58)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T C 6: 146,853,750 (GRCm39) *301W probably null Het
Abat A G 16: 8,423,414 (GRCm39) I236V probably benign Het
Abca8a T C 11: 109,961,249 (GRCm39) T558A probably benign Het
Ace3 A C 11: 105,885,764 (GRCm39) M57L probably benign Het
Adgrg1 T C 8: 95,729,129 (GRCm39) S18P probably benign Het
Ahi1 A G 10: 20,934,064 (GRCm39) D60G probably benign Het
Ap4e1 T A 2: 126,870,080 (GRCm39) probably null Het
Arnt2 C A 7: 84,010,773 (GRCm39) K34N probably damaging Het
Ascc3 T A 10: 50,494,021 (GRCm39) M152K probably benign Het
AW551984 A T 9: 39,505,051 (GRCm39) F480L probably benign Het
Blvrb G A 7: 27,158,773 (GRCm39) A58T possibly damaging Het
Cacna1g T A 11: 94,320,997 (GRCm39) M1366L probably benign Het
Ccdc82 A G 9: 13,266,880 (GRCm39) I361V probably benign Het
Clca4b T A 3: 144,631,927 (GRCm39) I193F possibly damaging Het
Crb1 A T 1: 139,176,686 (GRCm39) Y371* probably null Het
Cul9 T C 17: 46,832,854 (GRCm39) D1363G possibly damaging Het
Cyp2j8 C T 4: 96,332,877 (GRCm39) A490T probably benign Het
D430041D05Rik A T 2: 104,086,637 (GRCm39) S780T probably benign Het
Fzd5 G T 1: 64,774,815 (GRCm39) C315* probably null Het
Gabrr1 T C 4: 33,161,695 (GRCm39) S340P probably damaging Het
Galnt7 T C 8: 57,979,200 (GRCm39) D641G probably damaging Het
Gm7133 A G 1: 97,110,948 (GRCm39) noncoding transcript Het
Heatr5b A G 17: 79,120,602 (GRCm39) L774P possibly damaging Het
Itch T A 2: 155,015,985 (GRCm39) S157T probably benign Het
Itgam A C 7: 127,684,824 (GRCm39) D398A probably damaging Het
Kalrn G T 16: 33,805,561 (GRCm39) L2659M possibly damaging Het
Kcnj14 C A 7: 45,468,875 (GRCm39) R210L possibly damaging Het
Kmt2d T C 15: 98,758,573 (GRCm39) probably benign Het
Krt1c G C 15: 101,724,349 (GRCm39) T305S probably damaging Het
Mcm3ap A G 10: 76,342,441 (GRCm39) N1645D probably damaging Het
Naf1 T A 8: 67,336,096 (GRCm39) I341K probably damaging Het
Nbea G T 3: 55,937,317 (GRCm39) H765N probably damaging Het
Ncapd3 A G 9: 26,975,278 (GRCm39) I776V probably benign Het
Neo1 A T 9: 58,824,291 (GRCm39) D712E probably benign Het
Neu1 G A 17: 35,153,730 (GRCm39) V385I probably benign Het
Or14j3 C A 17: 37,900,817 (GRCm39) R142S probably benign Het
Or51a6 C A 7: 102,604,011 (GRCm39) G273C probably damaging Het
Or51a6 A G 7: 102,604,737 (GRCm39) Y24H probably benign Het
Pgghg A C 7: 140,523,308 (GRCm39) T196P possibly damaging Het
Pira2 A T 7: 3,845,445 (GRCm39) V313E probably damaging Het
Pkd1l2 T C 8: 117,809,107 (GRCm39) R28G probably benign Het
Pkhd1l1 T C 15: 44,421,336 (GRCm39) S3035P probably damaging Het
Ppp1r9a T A 6: 4,905,509 (GRCm39) N21K probably damaging Het
Prune1 T C 3: 95,169,554 (GRCm39) D216G probably benign Het
Ptpn23 G T 9: 110,216,893 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,301,351 (GRCm39) M668K probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rpsa G T 9: 119,960,102 (GRCm39) V222L probably benign Het
Septin2 A G 1: 93,425,098 (GRCm39) T45A probably damaging Het
Slc12a8 A T 16: 33,445,384 (GRCm39) D260V probably damaging Het
Srrm2 G T 17: 24,039,330 (GRCm39) M2087I possibly damaging Het
Tg T C 15: 66,700,306 (GRCm39) L88P probably damaging Het
Tns1 A G 1: 73,991,578 (GRCm39) probably null Het
Topbp1 A T 9: 103,224,160 (GRCm39) D1429V probably benign Het
Tprg1 A G 16: 25,241,151 (GRCm39) probably null Het
Trit1 T C 4: 122,933,261 (GRCm39) I66T possibly damaging Het
Usf3 A T 16: 44,037,670 (GRCm39) I717L probably damaging 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
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'- GCAGACACCAAGAGAGATGTTTC -3'
(R):5'- AGAGATCATGTCTGCCAACTGC -3'

Sequencing Primer
(F):5'- CACCAAGAGAGATGTTTCTAGTTGG -3'
(R):5'- GCCAACTGCAGGTCCTTAC -3'
Posted On 2017-08-16