Incidental Mutation 'IGL03174:Bpifb1'
ID411945
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb1
Ensembl Gene ENSMUSG00000027485
Gene NameBPI fold containing family B, member 1
SynonymsLPlunc1, von Ebner minor salivary protein, U46068
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03174
Quality Score
Status
Chromosome2
Chromosomal Location154190818-154220369 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 154213049 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Glutamine at position 287 (L287Q)
Ref Sequence ENSEMBL: ENSMUSP00000080501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]
Predicted Effect probably damaging
Transcript: ENSMUST00000028987
AA Change: L287Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: L287Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000081816
AA Change: L287Q

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: L287Q

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123017
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in the innate immune response to bacterial exposure in the mouth, nasal cavities, and lungs. The encoded protein is secreted and is a member of the BPI/LBP/PLUNC protein superfamily. This gene is found with other members of the superfamily in a cluster on chromosome 20. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit strain background sensitive transmission ratio distortion and increased basal MUC5B production. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik T C 4: 42,970,975 Y67H probably benign Het
Abcb1b T C 5: 8,827,752 L703P probably benign Het
Abi3bp A G 16: 56,614,747 K602R possibly damaging Het
Ank2 T C 3: 126,940,095 D622G probably damaging Het
Brd8 T C 18: 34,604,909 E774G probably damaging Het
C87977 C T 4: 144,208,430 S247N probably benign Het
Cnot1 A G 8: 95,761,355 S558P probably damaging Het
Col15a1 T C 4: 47,282,666 I781T probably damaging Het
Cyp2j7 T A 4: 96,195,370 R448* probably null Het
Dgkb A T 12: 38,216,054 I511F possibly damaging Het
Fam221b T C 4: 43,666,542 E23G probably benign Het
Gm17067 C A 7: 42,710,676 probably null Het
Grin3a T A 4: 49,771,107 D555V probably damaging Het
Hid1 T C 11: 115,360,389 Y107C probably damaging Het
Kcnd2 A G 6: 21,216,516 D73G possibly damaging Het
Kit A G 5: 75,607,113 D52G probably benign Het
Llgl1 G T 11: 60,706,210 R189L probably benign Het
Lrp2 T A 2: 69,466,265 D3315V probably damaging Het
Map3k8 A G 18: 4,349,247 S24P probably damaging Het
Nckap5 A G 1: 125,981,646 L1616P probably damaging Het
Nrcam A G 12: 44,576,006 probably benign Het
Olfr1475 A G 19: 13,480,069 M43T probably benign Het
Olfr715b A T 7: 107,106,270 M197K probably benign Het
Polr1a G A 6: 71,977,347 R1595H possibly damaging Het
Rusc1 T C 3: 89,091,770 D235G probably damaging Het
Serpinb6e A T 13: 33,836,480 I215N probably damaging Het
Sfrp4 A T 13: 19,632,207 Q137L probably benign Het
Vmn2r2 C T 3: 64,117,123 W679* probably null Het
Vps8 T A 16: 21,466,463 L398H probably damaging Het
Zfp709 A T 8: 71,889,026 T99S probably benign Het
Other mutations in Bpifb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Bpifb1 APN 2 154217167 splice site probably benign
IGL01516:Bpifb1 APN 2 154218252 missense probably benign 0.03
IGL02047:Bpifb1 APN 2 154202616 start codon destroyed probably null 1.00
IGL02143:Bpifb1 APN 2 154209929 missense probably benign 0.14
IGL03263:Bpifb1 APN 2 154215306 missense probably benign 0.03
Ectoplasm UTSW 2 154211581 nonsense probably null
R0058:Bpifb1 UTSW 2 154206540 missense possibly damaging 0.54
R0269:Bpifb1 UTSW 2 154212947 missense possibly damaging 0.51
R0617:Bpifb1 UTSW 2 154212947 missense possibly damaging 0.51
R0786:Bpifb1 UTSW 2 154202661 missense probably benign 0.11
R1718:Bpifb1 UTSW 2 154213983 splice site probably null
R3605:Bpifb1 UTSW 2 154211565 missense possibly damaging 0.78
R3607:Bpifb1 UTSW 2 154211565 missense possibly damaging 0.78
R3689:Bpifb1 UTSW 2 154209899 missense probably benign 0.42
R3807:Bpifb1 UTSW 2 154214002 missense probably benign 0.25
R3930:Bpifb1 UTSW 2 154215322 missense possibly damaging 0.89
R4024:Bpifb1 UTSW 2 154213046 missense probably damaging 1.00
R4745:Bpifb1 UTSW 2 154211581 nonsense probably null
R4752:Bpifb1 UTSW 2 154216280 intron probably benign
R5505:Bpifb1 UTSW 2 154204779 missense probably benign 0.00
R5724:Bpifb1 UTSW 2 154204792 missense probably benign
R6281:Bpifb1 UTSW 2 154206465 missense probably damaging 1.00
R7038:Bpifb1 UTSW 2 154202669 missense probably damaging 0.99
R7246:Bpifb1 UTSW 2 154207092 missense probably damaging 1.00
R7540:Bpifb1 UTSW 2 154213111 missense probably damaging 1.00
R7599:Bpifb1 UTSW 2 154214151 missense probably damaging 1.00
R7678:Bpifb1 UTSW 2 154202729 missense possibly damaging 0.74
Posted On2016-08-02