Incidental Mutation 'IGL02047:Bpifb1'
ID184956
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 #IGL02047
Quality Score
Status
Chromosome2
Chromosomal Location154190818-154220369 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) T to C at 154202616 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 1 (M1T)
Ref Sequence ENSEMBL: ENSMUSP00000080501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]
Predicted Effect probably null
Transcript: ENSMUST00000028987
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485
AA Change: M1T

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 null
Transcript: ENSMUST00000081816
AA Change: M1T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485
AA Change: M1T

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921501E09Rik C T 17: 33,067,301 V176M probably damaging Het
A730049H05Rik G T 6: 92,831,928 probably benign Het
Ank3 A G 10: 69,892,494 N681S possibly damaging Het
Arpp19 T G 9: 75,056,776 S137A probably damaging Het
Bmp2 T C 2: 133,560,976 L149P probably damaging Het
Btbd7 T C 12: 102,793,779 S637G probably benign Het
Cyp51 T A 5: 4,099,244 H211L possibly damaging Het
Cyth1 C A 11: 118,169,132 Q333H probably damaging Het
Dennd5a G A 7: 109,934,784 T67M possibly damaging Het
Dse A T 10: 34,162,845 Y51* probably null Het
Dynlt3 A T X: 9,656,426 Y76* probably null Het
Fabp12 T C 3: 10,247,718 probably benign Het
Galr1 A T 18: 82,405,993 L53Q probably damaging Het
Igkv4-70 A T 6: 69,267,927 D103E probably damaging Het
Il2 T C 3: 37,125,851 N19S probably benign Het
Jhy T C 9: 40,917,180 I477V probably benign Het
Kcnk4 A G 19: 6,926,258 S308P probably benign Het
Lipo3 A T 19: 33,557,162 I299K probably benign Het
Mark3 T A 12: 111,618,363 I131N probably damaging Het
Msr1 A G 8: 39,623,960 V137A probably benign Het
Nf1 T A 11: 79,425,535 V482E probably benign Het
Pcsk1 T C 13: 75,097,989 V162A probably benign Het
Plekhb1 A G 7: 100,655,299 V47A probably damaging Het
R3hcc1l G A 19: 42,563,819 M418I probably benign Het
Slc24a4 T C 12: 102,254,623 F438L probably damaging Het
Slc38a5 G T X: 8,273,640 V127L possibly damaging Het
Szt2 A G 4: 118,376,637 probably benign Het
Tdh A T 14: 63,496,958 H80Q probably benign Het
Tshz3 A C 7: 36,770,468 K627N probably damaging Het
Usp28 C T 9: 49,035,641 P791S probably damaging Het
Wdr81 A G 11: 75,445,506 Y1686H probably damaging Het
Xpot G T 10: 121,601,362 probably benign Het
Zfand4 G A 6: 116,314,928 G627R probably damaging 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
IGL02143:Bpifb1 APN 2 154209929 missense probably benign 0.14
IGL03174:Bpifb1 APN 2 154213049 missense probably damaging 1.00
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
R7811:Bpifb1 UTSW 2 154206564 splice site probably null
Posted On2014-05-07