Incidental Mutation 'R3609:Bpifc'
ID 269188
Institutional Source Beutler Lab
Gene Symbol Bpifc
Ensembl Gene ENSMUSG00000050108
Gene Name BPI fold containing family C
Synonyms Bpil2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R3609 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 85795555-85847724 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 85836502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000100941 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061699] [ENSMUST00000105304]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000061699
AA Change: M1K

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: M1K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
BPI1 33 257 8.89e-23 SMART
BPI2 272 474 2.29e-25 SMART
Predicted Effect probably null
Transcript: ENSMUST00000105304
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000100941
Gene: ENSMUSG00000050108
AA Change: M1K

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
SCOP:d1ewfa1 26 82 2e-13 SMART
Blast:BPI1 33 82 7e-27 BLAST
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cc2d2a A T 5: 43,869,668 (GRCm39) E856D probably damaging Het
Ces1c A T 8: 93,846,960 (GRCm39) I98N probably damaging Het
Clec4b1 T A 6: 123,027,591 (GRCm39) L16Q probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dop1b A G 16: 93,536,220 (GRCm39) Y106C probably damaging Het
Irak3 G T 10: 119,981,582 (GRCm39) T441K possibly damaging Het
Kif18a A C 2: 109,168,941 (GRCm39) D833A probably benign Het
Lypd8l G A 11: 58,503,384 (GRCm39) T48I possibly damaging Het
Morc2b A G 17: 33,355,252 (GRCm39) V840A probably damaging Het
Or4a47 A G 2: 89,665,420 (GRCm39) S290P probably damaging Het
Or5al1 G A 2: 85,989,976 (GRCm39) T246I probably benign Het
Or5p57 A G 7: 107,665,576 (GRCm39) F143S probably damaging Het
Or8k23 G C 2: 86,185,826 (GRCm39) A300G probably damaging Het
Pgap6 G A 17: 26,337,860 (GRCm39) V415I probably benign Het
Rest A C 5: 77,430,647 (GRCm39) N1022T probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Tsc2 A C 17: 24,841,524 (GRCm39) I365S possibly damaging Het
Ttn C T 2: 76,589,603 (GRCm39) R21217H probably damaging Het
Vim A T 2: 13,583,437 (GRCm39) H253L possibly damaging Het
Vmn2r71 T A 7: 85,268,870 (GRCm39) C358S probably damaging Het
Other mutations in Bpifc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00264:Bpifc APN 10 85,796,392 (GRCm39) missense possibly damaging 0.85
IGL01474:Bpifc APN 10 85,836,503 (GRCm39) start codon destroyed probably damaging 0.98
IGL02437:Bpifc APN 10 85,824,595 (GRCm39) missense probably damaging 1.00
R0689:Bpifc UTSW 10 85,796,411 (GRCm39) splice site probably benign
R1205:Bpifc UTSW 10 85,817,168 (GRCm39) missense probably damaging 1.00
R1524:Bpifc UTSW 10 85,813,599 (GRCm39) missense probably benign 0.01
R2033:Bpifc UTSW 10 85,836,496 (GRCm39) missense possibly damaging 0.88
R3103:Bpifc UTSW 10 85,829,286 (GRCm39) missense probably damaging 1.00
R3874:Bpifc UTSW 10 85,827,118 (GRCm39) missense probably benign
R4728:Bpifc UTSW 10 85,827,063 (GRCm39) missense possibly damaging 0.50
R5079:Bpifc UTSW 10 85,817,168 (GRCm39) missense probably damaging 1.00
R5193:Bpifc UTSW 10 85,836,497 (GRCm39) missense probably benign 0.01
R6280:Bpifc UTSW 10 85,813,576 (GRCm39) missense probably benign 0.02
R6291:Bpifc UTSW 10 85,812,122 (GRCm39) missense probably damaging 1.00
R6945:Bpifc UTSW 10 85,815,078 (GRCm39) missense probably benign 0.00
R7288:Bpifc UTSW 10 85,824,585 (GRCm39) missense possibly damaging 0.95
R7310:Bpifc UTSW 10 85,798,891 (GRCm39) missense probably damaging 1.00
R7463:Bpifc UTSW 10 85,815,198 (GRCm39) missense probably benign 0.00
R7807:Bpifc UTSW 10 85,812,114 (GRCm39) missense possibly damaging 0.80
R8004:Bpifc UTSW 10 85,815,148 (GRCm39) missense probably benign
R8225:Bpifc UTSW 10 85,836,431 (GRCm39) missense probably benign 0.00
R8284:Bpifc UTSW 10 85,836,413 (GRCm39) missense probably benign 0.00
R8364:Bpifc UTSW 10 85,797,891 (GRCm39) missense probably damaging 0.99
R8770:Bpifc UTSW 10 85,801,129 (GRCm39) missense probably damaging 1.00
R9427:Bpifc UTSW 10 85,812,129 (GRCm39) missense probably benign
R9482:Bpifc UTSW 10 85,815,118 (GRCm39) missense possibly damaging 0.68
Z1176:Bpifc UTSW 10 85,801,092 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CACATCCATGCAGGTAGACCTC -3'
(R):5'- TGACTCCTGAATGGATGCATAAG -3'

Sequencing Primer
(F):5'- CATGCAGGTAGACCTCAGATCTG -3'
(R):5'- CCTGAATGGATGCATAAGTGGGTC -3'
Posted On 2015-02-19