Incidental Mutation 'IGL00092:Bpi'
ID1826
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 #IGL00092
Quality Score
Status
Chromosome2
Chromosomal Location158258094-158284531 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 158274796 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 371 (V371E)
Ref Sequence ENSEMBL: ENSMUSP00000105126 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000065039] [ENSMUST00000109499] [ENSMUST00000109500]
Predicted Effect probably damaging
Transcript: ENSMUST00000065039
AA Change: V371E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067837
Gene: ENSMUSG00000052922
AA Change: V371E

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: V371E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105125
Gene: ENSMUSG00000052922
AA Change: V371E

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: V371E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105126
Gene: ENSMUSG00000052922
AA Change: V371E

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T C 12: 118,928,695 D443G probably benign Het
Atg16l1 T C 1: 87,765,397 I28T possibly damaging Het
Cd109 T G 9: 78,616,969 V55G probably damaging Het
Cd300c2 T C 11: 115,001,549 probably benign Het
Cic C T 7: 25,292,124 R1280C probably damaging Het
Cngb1 G A 8: 95,242,184 probably benign Het
Cntn4 G T 6: 106,506,225 C247F probably damaging Het
Disp3 C T 4: 148,241,534 V1256I probably benign Het
Farsb A T 1: 78,462,993 S338T probably benign Het
Fcnb T C 2: 28,076,801 N240S probably benign Het
Flg2 A G 3: 93,219,855 S5G possibly damaging Het
Git1 T C 11: 77,505,957 L635P probably benign Het
Gm21985 T G 2: 112,351,334 W685G probably damaging Het
Gpt2 T C 8: 85,512,324 V262A probably benign Het
Hecw2 A G 1: 53,830,737 V1444A probably damaging Het
Herc1 T C 9: 66,483,966 V4017A probably benign Het
Klhl17 T C 4: 156,233,690 T129A possibly damaging Het
Krt84 T G 15: 101,528,735 D331A probably damaging Het
Lrrc9 C T 12: 72,486,243 T963M possibly damaging Het
Mtcl1 C T 17: 66,344,319 V935I probably benign Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myocd T C 11: 65,180,944 probably null Het
Nid1 A G 13: 13,476,392 N505D probably damaging Het
Ninj1 A T 13: 49,193,734 probably null Het
Olfr1375 C A 11: 51,048,400 Q98K probably benign Het
Olfr1426 A T 19: 12,087,993 D266E probably benign Het
Olfr307 C T 7: 86,336,061 V112I probably benign Het
Plscr2 T A 9: 92,290,632 probably benign Het
Ppfia2 A G 10: 106,819,492 T307A probably benign Het
Sart3 T C 5: 113,746,669 R625G probably benign Het
Sohlh2 T A 3: 55,207,815 L407H probably damaging Het
Sorcs1 A G 19: 50,190,054 S877P probably damaging Het
Stat1 T C 1: 52,122,595 M1T probably null Het
Szt2 C T 4: 118,384,250 probably benign Het
Tarsl2 G T 7: 65,652,259 probably null Het
Terb2 T A 2: 122,198,386 S141R probably benign Het
Tgfbrap1 T C 1: 43,060,123 Y177C probably damaging Het
Trappc9 A T 15: 73,026,026 I169N possibly damaging Het
Trim47 A G 11: 116,106,194 L578P probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Vmn2r90 T C 17: 17,733,496 S641P probably benign Het
Vwa5a T A 9: 38,737,814 probably null Het
Zzef1 T A 11: 72,875,126 I1493N probably benign Het
Other mutations in Bpi
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7707:Bpi UTSW 2 158261173 missense probably benign 0.02
Z1176:Bpi UTSW 2 158272102 missense possibly damaging 0.95
Posted On2011-07-12