Incidental Mutation 'IGL02301:Bpi'
ID290294
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpi
Ensembl Gene ENSMUSG00000052922
Gene Namebactericidal permeablility increasing protein
Synonyms9230105K17Rik, Bpifd1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02301
Quality Score
Status
Chromosome2
Chromosomal Location158258094-158284531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 158274814 bp
ZygosityHeterozygous
Amino Acid Change Serine to Phenylalanine at position 377 (S377F)
Ref Sequence ENSEMBL: ENSMUSP00000105126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065039] [ENSMUST00000109499] [ENSMUST00000109500]
Predicted Effect probably damaging
Transcript: ENSMUST00000065039
AA Change: S377F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: S377F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
BPI1 36 259 1.72e-70 SMART
BPI2 274 481 7.01e-53 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109499
AA Change: S377F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: S377F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
BPI1 36 259 1.72e-70 SMART
BPI2 274 478 3.93e-56 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109500
AA Change: S377F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: S377F

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
BPI1 36 259 1.72e-70 SMART
BPI2 274 477 5.43e-59 SMART
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 encodes a lipopolysaccharide binding protein. It is associated with human neutrophil granules and has antimicrobial activity against gram-negative organisms. [provided by RefSeq, Nov 2014]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap8l A G 17: 32,332,926 probably benign Het
Alk T C 17: 71,874,176 Q1373R probably damaging Het
Atf7ip2 T G 16: 10,211,047 S148A probably benign Het
Ccni A T 5: 93,188,175 C122S possibly damaging Het
Cd5l A G 3: 87,365,993 R90G probably benign Het
Ceacam3 C T 7: 17,163,101 S664F probably damaging Het
Clca3a2 A T 3: 144,806,372 D534E probably damaging Het
Ep400 A T 5: 110,674,960 S2524R probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Gart A G 16: 91,621,837 probably benign Het
Gm9513 T C 9: 36,477,187 probably benign Het
Gsdmc4 A G 15: 63,895,264 V219A probably benign Het
Hus1 T C 11: 8,996,915 T261A probably benign Het
Lman2l A G 1: 36,443,543 I84T probably damaging Het
Megf8 G A 7: 25,337,900 V742M probably damaging Het
Myo1d A G 11: 80,676,853 V267A probably benign Het
Notch2 A G 3: 98,141,554 T1803A probably benign Het
Olfr1278 T A 2: 111,292,697 M143K probably benign Het
Olfr23 T A 11: 73,941,068 M274K possibly damaging Het
Olfr814 A G 10: 129,874,079 F226S probably damaging Het
Pde5a G A 3: 122,760,885 R208Q probably damaging Het
Pla2r1 T C 2: 60,452,436 N745S probably benign Het
Ptgdr2 T A 19: 10,940,209 I30N possibly damaging Het
Rap1gap2 G A 11: 74,407,369 T415I probably damaging Het
Slc6a6 T C 6: 91,726,056 Y137H probably benign Het
Sptbn1 A T 11: 30,142,129 D532E probably damaging Het
Stk39 T C 2: 68,211,962 D543G probably damaging Het
Trpc4 G A 3: 54,291,232 V526M probably damaging Het
Trrap A G 5: 144,777,917 I100V probably benign Het
Vmn1r-ps123 A C 13: 22,996,357 noncoding transcript Het
Vwa5b2 G A 16: 20,604,790 G1151D probably damaging Het
Zfp358 T A 8: 3,496,858 I480N probably benign Het
Zfp423 T C 8: 87,781,574 D714G probably damaging Het
Other mutations in Bpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00092:Bpi APN 2 158274796 missense probably damaging 1.00
IGL00327:Bpi APN 2 158274844 critical splice donor site probably benign
IGL01614:Bpi APN 2 158271946 missense probably damaging 1.00
IGL02516:Bpi APN 2 158267731 missense possibly damaging 0.58
IGL02752:Bpi APN 2 158262424 missense probably damaging 0.99
R0077:Bpi UTSW 2 158261334 missense probably damaging 1.00
R0085:Bpi UTSW 2 158273152 nonsense probably null
R0433:Bpi UTSW 2 158258419 missense probably damaging 1.00
R0580:Bpi UTSW 2 158258295 start codon destroyed probably damaging 0.98
R0605:Bpi UTSW 2 158261394 missense probably damaging 1.00
R0924:Bpi UTSW 2 158261426 missense possibly damaging 0.50
R0930:Bpi UTSW 2 158261426 missense possibly damaging 0.50
R1173:Bpi UTSW 2 158267740 missense probably benign 0.04
R1530:Bpi UTSW 2 158261145 missense probably damaging 1.00
R1923:Bpi UTSW 2 158261163 missense probably damaging 1.00
R1955:Bpi UTSW 2 158274715 missense probably damaging 0.98
R2011:Bpi UTSW 2 158261352 missense probably damaging 0.97
R4748:Bpi UTSW 2 158272021 missense possibly damaging 0.93
R6005:Bpi UTSW 2 158262480 missense possibly damaging 0.69
R6374:Bpi UTSW 2 158272054 missense probably damaging 1.00
R6994:Bpi UTSW 2 158258244 start gained probably benign
R7072:Bpi UTSW 2 158272078 missense probably damaging 0.99
Posted On2015-04-16