Incidental Mutation 'IGL02516:Bpi'
ID296747
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 #IGL02516
Quality Score
Status
Chromosome2
Chromosomal Location158258094-158284531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 158267731 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 200 (I200V)
Ref Sequence ENSEMBL: ENSMUSP00000105126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065039] [ENSMUST00000109499] [ENSMUST00000109500]
Predicted Effect possibly damaging
Transcript: ENSMUST00000065039
AA Change: I200V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: I200V

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 possibly damaging
Transcript: ENSMUST00000109499
AA Change: I200V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: I200V

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 possibly damaging
Transcript: ENSMUST00000109500
AA Change: I200V

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: I200V

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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 C T 8: 24,898,596 S364N probably damaging Het
AI314180 T C 4: 58,877,102 E111G probably damaging Het
Ano8 C T 8: 71,485,077 G47D probably damaging Het
App T C 16: 84,955,417 T743A probably damaging Het
Armc3 A G 2: 19,300,506 K692E possibly damaging Het
Arpp21 T C 9: 112,185,661 N25S probably damaging Het
Avpr1b G A 1: 131,600,629 V297I probably damaging Het
Cacna2d4 C T 6: 119,271,870 probably benign Het
Cbarp A G 10: 80,135,545 Y149H probably damaging Het
Ccdc85c T C 12: 108,274,901 N78S unknown Het
Cdcp1 G T 9: 123,173,637 L790M possibly damaging Het
Cdkn2d T A 9: 21,289,143 I111F probably benign Het
Ctsr A G 13: 61,163,178 V18A probably benign Het
Dapk1 A G 13: 60,696,347 D60G probably damaging Het
Daw1 A C 1: 83,209,228 N253T probably benign Het
Dcaf7 T A 11: 106,051,872 I215N probably damaging Het
Ddc A C 11: 11,829,125 L333R probably damaging Het
Dennd1a A G 2: 37,852,394 probably null Het
Dnah10 C A 5: 124,787,331 T2200K probably damaging Het
Dock6 T C 9: 21,802,585 Y1883C probably damaging Het
Eif2ak4 T A 2: 118,436,254 I752N probably damaging Het
Fcho2 A G 13: 98,730,212 I740T probably benign Het
Flnc A G 6: 29,450,841 D1496G probably damaging Het
Fn1 A G 1: 71,637,323 V583A possibly damaging Het
Grasp G A 15: 101,229,051 V137I probably damaging Het
Greb1l A C 18: 10,537,064 T1010P probably benign Het
Hs3st6 T C 17: 24,758,131 L195P probably damaging Het
Hyi A G 4: 118,362,483 E239G probably damaging Het
Ighv2-3 G T 12: 113,611,198 Y112* probably null Het
Ints3 A G 3: 90,403,108 F495S probably damaging Het
Itih2 T A 2: 10,097,917 H802L probably benign Het
Jag2 C T 12: 112,910,566 V990M probably damaging Het
Kat6b T C 14: 21,609,868 probably benign Het
Krtap4-8 C T 11: 99,780,342 probably benign Het
Lhx4 A G 1: 155,702,257 S380P probably damaging Het
Morn3 C A 5: 123,037,300 E33* probably null Het
Mug2 C T 6: 122,070,843 A771V probably damaging Het
N4bp3 A T 11: 51,644,334 S343T probably benign Het
Nlrp1a T C 11: 71,114,460 N643S probably damaging Het
Olfr15 A C 16: 3,839,336 D121A probably damaging Het
Olfr767 T A 10: 129,079,793 M57L possibly damaging Het
Olfr93 T A 17: 37,151,272 R79S possibly damaging Het
Phc3 A G 3: 30,948,793 F192S probably damaging Het
Pigq C T 17: 25,937,247 R69H probably benign Het
Plk3 A G 4: 117,131,989 C222R probably damaging Het
Pomt2 T C 12: 87,119,646 T490A probably benign Het
Prss29 T C 17: 25,320,901 I91T probably damaging Het
Ralgapb A T 2: 158,465,815 probably benign Het
Sccpdh G A 1: 179,681,691 G75D probably damaging Het
Serpine2 T C 1: 79,794,997 probably benign Het
Sfr1 T G 19: 47,732,990 probably null Het
Slc22a23 C A 13: 34,203,955 C386F probably benign Het
Slc22a27 T C 19: 7,864,811 K433R probably damaging Het
Slc39a12 T C 2: 14,400,335 L246P probably damaging Het
Slc4a11 A G 2: 130,691,393 I191T possibly damaging Het
Slc9c1 A G 16: 45,577,875 N668D probably damaging Het
Supt16 A T 14: 52,183,964 D41E possibly damaging Het
Ugt2b37 A G 5: 87,240,882 S491P probably damaging Het
Urb1 G T 16: 90,772,695 T1381N possibly damaging Het
Usp8 A G 2: 126,742,174 I423M probably benign Het
Vmn1r191 T A 13: 22,179,540 I15F probably benign Het
Zbtb5 A T 4: 44,993,798 Y529N probably damaging Het
Zfp541 T A 7: 16,082,993 probably null 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
IGL02301:Bpi APN 2 158274814 missense probably damaging 1.00
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
R7707:Bpi UTSW 2 158261173 missense probably benign 0.02
Z1176:Bpi UTSW 2 158272102 missense possibly damaging 0.95
Posted On2015-04-16