Incidental Mutation 'R9440:Bpifb6'
ID 713567
Institutional Source Beutler Lab
Gene Symbol Bpifb6
Ensembl Gene ENSMUSG00000068009
Gene Name BPI fold containing family B, member 6
Synonyms LOC228796, Bpil3
MMRRC Submission
Accession Numbers

Genbank: NM_199303; MGI: 2684965
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R9440 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 153900388-153912795 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153905994 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 191 (D191V)
Ref Sequence ENSEMBL: ENSMUSP00000086347 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088955] [ENSMUST00000135501]
AlphaFold Q8BU51
Predicted Effect probably benign
Transcript: ENSMUST00000088955
AA Change: D191V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000086347
Gene: ENSMUSG00000068009
AA Change: D191V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
BPI1 22 228 7.83e-3 SMART
BPI2 245 446 2.5e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135501
AA Change: D191V

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000119046
Gene: ENSMUSG00000068009
AA Change: D191V

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
BPI1 22 228 7.83e-3 SMART
Blast:BPI2 245 279 1e-11 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A T 16: 90,929,944 V116E probably benign Het
Abca17 G A 17: 24,280,478 T1359M probably benign Het
Acacb T A 5: 114,246,024 C2205S possibly damaging Het
Akap3 A G 6: 126,864,628 E70G probably benign Het
Aldh1a3 C A 7: 66,419,244 probably null Het
Asb4 A G 6: 5,429,817 I352M probably benign Het
Bach1 C G 16: 87,719,715 S381R probably benign Het
BC034090 A G 1: 155,226,215 L101P probably benign Het
Bms1 A T 6: 118,405,256 D440E probably benign Het
Cfd T C 10: 79,890,982 probably null Het
Cnot3 G A 7: 3,653,561 E252K probably damaging Het
Col6a3 T C 1: 90,779,346 D2622G unknown Het
Crybg2 T C 4: 134,074,291 S612P probably benign Het
Cyp4b1 T C 4: 115,636,384 K167R probably damaging Het
Gbp3 T C 3: 142,566,574 V279A possibly damaging Het
Gipc2 T C 3: 152,128,069 T192A possibly damaging Het
Gm3285 T C 10: 77,862,077 V20A Het
Gm35339 T C 15: 76,360,864 S1176P Het
Gorasp2 T C 2: 70,711,125 probably null Het
Gpr179 A G 11: 97,338,489 S947P probably benign Het
Klra5 C A 6: 129,906,723 W147L possibly damaging Het
Lrch4 G A 5: 137,637,789 R368Q probably damaging Het
Mamdc4 A G 2: 25,565,588 V876A probably benign Het
Marf1 A C 16: 14,120,332 D1433E probably benign Het
Mcm4 A T 16: 15,635,311 C171* probably null Het
Micall1 C T 15: 79,126,959 P510S Het
Morc3 A G 16: 93,853,087 probably null Het
Mrpl28 G T 17: 26,126,292 V229F possibly damaging Het
Mrps33 A T 6: 39,805,430 Y52* probably null Het
Mybphl T C 3: 108,374,886 I144T probably benign Het
Myom1 A G 17: 71,126,334 M1657V probably benign Het
Ogfr AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG 2: 180,595,057 probably benign Het
Olfr492 A G 7: 108,322,830 I282T probably benign Het
Peg10 T TCCG 6: 4,756,451 probably benign Het
Plxna1 T C 6: 89,341,930 K637R probably benign Het
Prob1 G T 18: 35,653,165 L679I possibly damaging Het
Sgms2 C A 3: 131,325,069 C255F probably damaging Het
Slc17a9 T C 2: 180,741,297 C399R probably benign Het
Smc4 T A 3: 69,008,122 probably null Het
St14 A G 9: 31,096,549 L578P probably damaging Het
Tcaf3 A T 6: 42,596,972 L102* probably null Het
Tex15 A G 8: 33,582,245 T2607A possibly damaging Het
Trav15-2-dv6-2 T A 14: 53,649,475 probably benign Het
Trip4 T C 9: 65,852,952 probably null Het
Ttf1 A G 2: 29,065,697 I358V probably benign Het
Uroc1 C A 6: 90,345,371 S292R possibly damaging Het
Vmn1r5 T C 6: 56,985,430 I30T possibly damaging Het
Vps33a A T 5: 123,564,984 I192N probably damaging Het
Vps50 A G 6: 3,516,724 I69V probably benign Het
Xirp1 G A 9: 120,018,137 T560M probably damaging Het
Zfp512 A T 5: 31,471,015 T266S possibly damaging Het
Other mutations in Bpifb6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02691:Bpifb6 APN 2 153902645 missense unknown
IGL03143:Bpifb6 APN 2 153902735 missense probably damaging 1.00
R0157:Bpifb6 UTSW 2 153903966 missense probably benign 0.04
R1607:Bpifb6 UTSW 2 153906861 missense probably damaging 1.00
R1678:Bpifb6 UTSW 2 153908642 missense probably damaging 0.96
R1745:Bpifb6 UTSW 2 153911483 missense possibly damaging 0.85
R1786:Bpifb6 UTSW 2 153906861 missense probably damaging 1.00
R1990:Bpifb6 UTSW 2 153905350 critical splice donor site probably null
R2087:Bpifb6 UTSW 2 153906078 missense possibly damaging 0.88
R3717:Bpifb6 UTSW 2 153908141 unclassified probably benign
R4449:Bpifb6 UTSW 2 153906768 missense possibly damaging 0.56
R4450:Bpifb6 UTSW 2 153906768 missense possibly damaging 0.56
R4709:Bpifb6 UTSW 2 153908516 missense possibly damaging 0.87
R4710:Bpifb6 UTSW 2 153908516 missense possibly damaging 0.87
R6113:Bpifb6 UTSW 2 153910731 missense probably benign
R6267:Bpifb6 UTSW 2 153906892 missense possibly damaging 0.50
R6296:Bpifb6 UTSW 2 153906892 missense possibly damaging 0.50
R6406:Bpifb6 UTSW 2 153904537 missense possibly damaging 0.88
R7049:Bpifb6 UTSW 2 153908813 splice site probably null
R7098:Bpifb6 UTSW 2 153906890 nonsense probably null
R7740:Bpifb6 UTSW 2 153903009 missense probably damaging 1.00
R8673:Bpifb6 UTSW 2 153905292 missense probably damaging 1.00
R9287:Bpifb6 UTSW 2 153904615 missense probably damaging 1.00
R9767:Bpifb6 UTSW 2 153909228 critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TTATCGCTGTTGCAAGGGC -3'
(R):5'- CTGCAACAAATGAGGCTGAAGC -3'

Sequencing Primer
(F):5'- CTCTGGCGAATGCTGGAGTC -3'
(R):5'- AGCCCTAGCAGATGAGAGTCCTC -3'
Posted On 2022-06-15