Incidental Mutation 'IGL00424:Bpifb1'
ID 6997
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb1
Ensembl Gene ENSMUSG00000027485
Gene Name BPI fold containing family B, member 1
Synonyms U46068, LPlunc1, von Ebner minor salivary protein
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00424
Quality Score
Status
Chromosome 2
Chromosomal Location 154032738-154062263 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 154059087 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000081816]
AlphaFold Q61114
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: 137,988,260 (GRCm39) E108G probably benign Het
Afap1l2 A G 19: 56,990,740 (GRCm39) probably benign Het
Als2cl T C 9: 110,715,607 (GRCm39) probably null Het
Cux2 G A 5: 122,006,601 (GRCm39) R890W possibly damaging Het
Fancb A C X: 163,766,334 (GRCm39) Q272P probably damaging Het
Fmnl1 G A 11: 103,088,166 (GRCm39) W1008* probably null Het
Gfra2 T A 14: 71,205,679 (GRCm39) probably benign Het
Gjd2 A G 2: 113,842,258 (GRCm39) I73T probably damaging Het
Itgae T C 11: 73,036,461 (GRCm39) I1133T probably benign Het
Kcnh1 T A 1: 192,101,190 (GRCm39) V594E probably damaging Het
Maml2 T A 9: 13,532,208 (GRCm39) V474E probably damaging Het
Mysm1 G A 4: 94,861,146 (GRCm39) probably benign Het
Ntrk3 C T 7: 77,900,621 (GRCm39) A573T probably benign Het
Pi4kb A G 3: 94,911,574 (GRCm39) D348G probably damaging Het
Prol1 A G 5: 88,475,718 (GRCm39) Y36C probably benign Het
Rfx6 T A 10: 51,557,982 (GRCm39) C152S probably damaging Het
Rpp14 G A 14: 8,083,934 (GRCm38) G30E possibly damaging Het
Tnxb T G 17: 34,933,666 (GRCm39) F2362C probably damaging Het
Tpr T A 1: 150,274,346 (GRCm39) probably benign Het
Trf G A 9: 103,104,135 (GRCm39) A76V probably damaging Het
Tubgcp3 C T 8: 12,671,809 (GRCm39) R811H probably benign Het
Zfp820 A T 17: 22,038,292 (GRCm39) H345Q probably damaging Het
Other mutations in Bpifb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01516:Bpifb1 APN 2 154,060,172 (GRCm39) missense probably benign 0.03
IGL02047:Bpifb1 APN 2 154,044,536 (GRCm39) start codon destroyed probably null 1.00
IGL02143:Bpifb1 APN 2 154,051,849 (GRCm39) missense probably benign 0.14
IGL03174:Bpifb1 APN 2 154,054,969 (GRCm39) missense probably damaging 1.00
IGL03263:Bpifb1 APN 2 154,057,226 (GRCm39) missense probably benign 0.03
Ectoplasm UTSW 2 154,053,501 (GRCm39) nonsense probably null
R0058:Bpifb1 UTSW 2 154,048,460 (GRCm39) missense possibly damaging 0.54
R0269:Bpifb1 UTSW 2 154,054,867 (GRCm39) missense possibly damaging 0.51
R0617:Bpifb1 UTSW 2 154,054,867 (GRCm39) missense possibly damaging 0.51
R0786:Bpifb1 UTSW 2 154,044,581 (GRCm39) missense probably benign 0.11
R1718:Bpifb1 UTSW 2 154,055,903 (GRCm39) splice site probably null
R3605:Bpifb1 UTSW 2 154,053,485 (GRCm39) missense possibly damaging 0.78
R3607:Bpifb1 UTSW 2 154,053,485 (GRCm39) missense possibly damaging 0.78
R3689:Bpifb1 UTSW 2 154,051,819 (GRCm39) missense probably benign 0.42
R3807:Bpifb1 UTSW 2 154,055,922 (GRCm39) missense probably benign 0.25
R3930:Bpifb1 UTSW 2 154,057,242 (GRCm39) missense possibly damaging 0.89
R4024:Bpifb1 UTSW 2 154,054,966 (GRCm39) missense probably damaging 1.00
R4745:Bpifb1 UTSW 2 154,053,501 (GRCm39) nonsense probably null
R4752:Bpifb1 UTSW 2 154,058,200 (GRCm39) intron probably benign
R5505:Bpifb1 UTSW 2 154,046,699 (GRCm39) missense probably benign 0.00
R5724:Bpifb1 UTSW 2 154,046,712 (GRCm39) missense probably benign
R6281:Bpifb1 UTSW 2 154,048,385 (GRCm39) missense probably damaging 1.00
R7038:Bpifb1 UTSW 2 154,044,589 (GRCm39) missense probably damaging 0.99
R7246:Bpifb1 UTSW 2 154,049,012 (GRCm39) missense probably damaging 1.00
R7540:Bpifb1 UTSW 2 154,055,031 (GRCm39) missense probably damaging 1.00
R7599:Bpifb1 UTSW 2 154,056,071 (GRCm39) missense probably damaging 1.00
R7678:Bpifb1 UTSW 2 154,044,649 (GRCm39) missense possibly damaging 0.74
R7811:Bpifb1 UTSW 2 154,048,484 (GRCm39) splice site probably null
R9031:Bpifb1 UTSW 2 154,051,848 (GRCm39) missense probably benign 0.00
R9120:Bpifb1 UTSW 2 154,046,692 (GRCm39) missense probably benign 0.01
Posted On 2012-04-20