Incidental Mutation 'R6116:Bpifa3'
ID 485106
Institutional Source Beutler Lab
Gene Symbol Bpifa3
Ensembl Gene ENSMUSG00000027482
Gene Name BPI fold containing family A, member 3
Synonyms 1700058C13Rik
MMRRC Submission 044265-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R6116 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 153972256-153980276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 153975633 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 68 (V68I)
Ref Sequence ENSEMBL: ENSMUSP00000105368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028984] [ENSMUST00000109746] [ENSMUST00000125753]
AlphaFold Q9D9J8
Predicted Effect possibly damaging
Transcript: ENSMUST00000028984
AA Change: V68I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: V68I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:LBP_BPI_CETP 47 219 1.2e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000109746
AA Change: V68I

PolyPhen 2 Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482
AA Change: V68I

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:LBP_BPI_CETP 47 219 1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125753
SMART Domains Protein: ENSMUSP00000135866
Gene: ENSMUSG00000027482

DomainStartEndE-ValueType
Pfam:LBP_BPI_CETP 1 95 4.1e-17 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 8,990,327 (GRCm39) probably benign Het
Apc A T 18: 34,449,508 (GRCm39) I2101F probably damaging Het
Csmd1 T A 8: 16,261,864 (GRCm39) I878F probably damaging Het
Cyp2c67 A T 19: 39,605,879 (GRCm39) M339K probably damaging Het
Dock3 A G 9: 106,809,161 (GRCm39) Y1321H probably damaging Het
Dsc1 G T 18: 20,230,356 (GRCm39) D316E probably benign Het
Eno3 C T 11: 70,552,401 (GRCm39) T351M possibly damaging Het
Erbb2 T A 11: 98,318,225 (GRCm39) F487Y probably damaging Het
Exosc10 T C 4: 148,657,810 (GRCm39) L652P probably benign Het
Glmn A T 5: 107,705,206 (GRCm39) M470K probably damaging Het
Gm15446 T A 5: 110,090,902 (GRCm39) C385S probably damaging Het
Hspa8 A G 9: 40,716,271 (GRCm39) E581G probably damaging Het
Igfn1 T C 1: 135,898,205 (GRCm39) D787G probably benign Het
Igkv12-44 T C 6: 69,791,838 (GRCm39) T42A possibly damaging Het
Itsn2 T C 12: 4,679,939 (GRCm39) probably benign Het
Jade2 T C 11: 51,726,460 (GRCm39) E84G probably damaging Het
Lpar3 T A 3: 145,946,352 (GRCm39) M10K possibly damaging Het
Lpin2 A G 17: 71,550,925 (GRCm39) D695G probably damaging Het
Mosmo T A 7: 120,325,418 (GRCm39) L7H probably damaging Het
Ms4a8a C T 19: 11,058,436 (GRCm39) A9T unknown Het
Myb T C 10: 21,030,653 (GRCm39) D48G probably damaging Het
Neurod6 T C 6: 55,655,776 (GRCm39) Y287C probably damaging Het
Olr1 T A 6: 129,476,947 (GRCm39) D106V probably damaging Het
Or11a4 A G 17: 37,536,459 (GRCm39) T148A probably benign Het
Or8b4 A G 9: 37,829,955 (GRCm39) M1V probably null Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Plch1 C T 3: 63,609,444 (GRCm39) R912H probably damaging Het
Ppfia3 T C 7: 45,004,127 (GRCm39) Y505C probably damaging Het
Sdk2 T A 11: 113,745,190 (GRCm39) I702F probably damaging Het
Slc16a11 T C 11: 70,106,262 (GRCm39) F119L probably benign Het
Slc2a10 A C 2: 165,359,623 (GRCm39) T496P probably damaging Het
Slc7a2 T C 8: 41,353,206 (GRCm39) Y181H probably damaging Het
Spata31e5 G A 1: 28,817,780 (GRCm39) A84V probably benign Het
Stab2 G T 10: 86,743,054 (GRCm39) P1185Q probably damaging Het
Tcf7l2 T A 19: 55,907,446 (GRCm39) S335R probably damaging Het
Ttc41 G A 10: 86,594,952 (GRCm39) probably null Het
Vmn2r32 A T 7: 7,467,092 (GRCm39) I812N probably damaging Het
Wdr24 C T 17: 26,043,579 (GRCm39) H134Y probably benign Het
Other mutations in Bpifa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01522:Bpifa3 APN 2 153,979,502 (GRCm39) missense probably damaging 1.00
R0023:Bpifa3 UTSW 2 153,980,070 (GRCm39) missense probably damaging 0.97
R1067:Bpifa3 UTSW 2 153,979,529 (GRCm39) missense probably damaging 1.00
R4163:Bpifa3 UTSW 2 153,977,516 (GRCm39) missense probably damaging 0.97
R4614:Bpifa3 UTSW 2 153,978,200 (GRCm39) missense probably damaging 0.99
R5124:Bpifa3 UTSW 2 153,980,057 (GRCm39) nonsense probably null
R5704:Bpifa3 UTSW 2 153,979,562 (GRCm39) critical splice donor site probably null
R5706:Bpifa3 UTSW 2 153,977,498 (GRCm39) missense probably damaging 0.98
R5975:Bpifa3 UTSW 2 153,978,241 (GRCm39) missense probably damaging 0.96
R6858:Bpifa3 UTSW 2 153,979,514 (GRCm39) missense probably benign 0.12
R8503:Bpifa3 UTSW 2 153,972,550 (GRCm39) missense probably damaging 1.00
R9088:Bpifa3 UTSW 2 153,975,685 (GRCm39) missense possibly damaging 0.64
R9325:Bpifa3 UTSW 2 153,975,600 (GRCm39) missense probably damaging 1.00
Z1176:Bpifa3 UTSW 2 153,972,391 (GRCm39) start gained probably benign
Z1177:Bpifa3 UTSW 2 153,978,212 (GRCm39) missense possibly damaging 0.95
Predicted Primers PCR Primer
(F):5'- AAAGGGATACGCTGGGTTCG -3'
(R):5'- GAGTGGTCCCTAGATTGTTCTCATC -3'

Sequencing Primer
(F):5'- TTCGTCCCAGGCCTGCTG -3'
(R):5'- GGTCCCTAGATTGTTCTCATCTTTGG -3'
Posted On 2017-08-16