Incidental Mutation 'IGL03174:Bpifb1'
ID 411945
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 # IGL03174
Quality Score
Status
Chromosome 2
Chromosomal Location 154032738-154062263 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 154054969 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q61114
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
Abcb1b T C 5: 8,877,752 (GRCm39) L703P probably benign Het
Abi3bp A G 16: 56,435,110 (GRCm39) K602R possibly damaging Het
Ank2 T C 3: 126,733,744 (GRCm39) D622G probably damaging Het
Brd8 T C 18: 34,737,962 (GRCm39) E774G probably damaging Het
Cnot1 A G 8: 96,487,983 (GRCm39) S558P probably damaging Het
Col15a1 T C 4: 47,282,666 (GRCm39) I781T probably damaging Het
Cyp2j7 T A 4: 96,083,607 (GRCm39) R448* probably null Het
Dgkb A T 12: 38,266,053 (GRCm39) I511F possibly damaging Het
Fam221b T C 4: 43,666,542 (GRCm39) E23G probably benign Het
Gm17067 C A 7: 42,360,100 (GRCm39) probably null Het
Grin3a T A 4: 49,771,107 (GRCm39) D555V probably damaging Het
Hid1 T C 11: 115,251,215 (GRCm39) Y107C probably damaging Het
Kcnd2 A G 6: 21,216,515 (GRCm39) D73G possibly damaging Het
Kit A G 5: 75,767,773 (GRCm39) D52G probably benign Het
Llgl1 G T 11: 60,597,036 (GRCm39) R189L probably benign Het
Lrp2 T A 2: 69,296,609 (GRCm39) D3315V probably damaging Het
Map3k8 A G 18: 4,349,247 (GRCm39) S24P probably damaging Het
Nckap5 A G 1: 125,909,383 (GRCm39) L1616P probably damaging Het
Nrcam A G 12: 44,622,789 (GRCm39) probably benign Het
Or2d2b A T 7: 106,705,477 (GRCm39) M197K probably benign Het
Or5b119 A G 19: 13,457,433 (GRCm39) M43T probably benign Het
Polr1a G A 6: 71,954,331 (GRCm39) R1595H possibly damaging Het
Pramel29 C T 4: 143,935,000 (GRCm39) S247N probably benign Het
Rusc1 T C 3: 88,999,077 (GRCm39) D235G probably damaging Het
Serpinb6e A T 13: 34,020,463 (GRCm39) I215N probably damaging Het
Sfrp4 A T 13: 19,816,377 (GRCm39) Q137L probably benign Het
Spata31g1 T C 4: 42,970,975 (GRCm39) Y67H probably benign Het
Vmn2r2 C T 3: 64,024,544 (GRCm39) W679* probably null Het
Vps8 T A 16: 21,285,213 (GRCm39) L398H probably damaging Het
Zfp709 A T 8: 72,642,870 (GRCm39) T99S probably benign Het
Other mutations in Bpifb1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Bpifb1 APN 2 154,059,087 (GRCm39) splice site probably benign
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
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 2016-08-02