|Institutional Source||Beutler Lab|
|Gene Name||BPI fold containing family A, member 1|
|Essential gene?||Non essential (E-score: 0.000)|
|Stock #||R0226 (G1)|
|Chromosomal Location||154142880-154149219 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 154146057 bp (GRCm38)|
|Amino Acid Change||Serine to Arginine at position 173 (S173R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028985 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028985]|
AA Change: S173R
PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)
AA Change: S173R
|Meta Mutation Damage Score||0.0724|
|Coding Region Coverage||
|Validation Efficiency||100% (98/98)|
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||
|Other mutations in Bpifa1||
(F):5'- AACTTGGTCTTGTGCAGAGTCCTG -3'
(R):5'- CTTTGTCCTCACCCATTGAGCAAGC -3'
(F):5'- gtccattgagcaaacttagcc -3'
(R):5'- CAAGCTGATTTTCAGGCTGC -3'