Incidental Mutation 'IGL00424:Bpifb1'
ID6997
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 #IGL00424
Quality Score
Status
Chromosome2
Chromosomal Location154190818-154220369 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 154217167 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]
Predicted Effect probably benign
Transcript: ENSMUST00000028987
SMART Domains Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485

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 benign
Transcript: ENSMUST00000081816
SMART Domains Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485

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: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 A G 3: 138,282,499 E108G probably benign Het
Afap1l2 A G 19: 57,002,308 probably benign Het
Als2cl T C 9: 110,886,539 probably null Het
Cux2 G A 5: 121,868,538 R890W possibly damaging Het
Fancb A C X: 164,983,338 Q272P probably damaging Het
Fmnl1 G A 11: 103,197,340 W1008* probably null Het
Gfra2 T A 14: 70,968,239 probably benign Het
Gjd2 A G 2: 114,011,777 I73T probably damaging Het
Itgae T C 11: 73,145,635 I1133T probably benign Het
Kcnh1 T A 1: 192,418,882 V594E probably damaging Het
Maml2 T A 9: 13,620,912 V474E probably damaging Het
Mysm1 G A 4: 94,972,909 probably benign Het
Ntrk3 C T 7: 78,250,873 A573T probably benign Het
Pi4kb A G 3: 95,004,263 D348G probably damaging Het
Prol1 A G 5: 88,327,859 Y36C probably benign Het
Rfx6 T A 10: 51,681,886 C152S probably damaging Het
Rpp14 G A 14: 8,083,934 G30E possibly damaging Het
Tnxb T G 17: 34,714,692 F2362C probably damaging Het
Tpr T A 1: 150,398,595 probably benign Het
Trf G A 9: 103,226,936 A76V probably damaging Het
Tubgcp3 C T 8: 12,621,809 R811H probably benign Het
Zfp820 A T 17: 21,819,311 H345Q probably damaging Het
Other mutations in Bpifb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-04-20