Incidental Mutation 'R9325:Bpifa3'
ID 706437
Institutional Source Beutler Lab
Gene Symbol Bpifa3
Ensembl Gene ENSMUSG00000027482
Gene Name BPI fold containing family A, member 3
Synonyms 1700058C13Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.052) question?
Stock # R9325 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153972256-153980276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153975600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 57 (I57F)
Ref Sequence ENSEMBL: ENSMUSP00000028984 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028984] [ENSMUST00000109746] [ENSMUST00000125753]
AlphaFold Q9D9J8
Predicted Effect probably damaging
Transcript: ENSMUST00000028984
AA Change: I57F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: I57F

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:LBP_BPI_CETP 47 219 1.2e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109746
AA Change: I57F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482
AA Change: I57F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (59/60)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,646,578 (GRCm39) D1076G possibly damaging Het
Aadacl2fm1 T A 3: 59,843,862 (GRCm39) N185K probably benign Het
Adamts9 T C 6: 92,849,279 (GRCm39) D1060G probably benign Het
Ahnak T A 19: 8,991,257 (GRCm39) D4180E probably benign Het
Ank2 A C 3: 126,775,504 (GRCm39) F42V probably damaging Het
Ankib1 A G 5: 3,822,523 (GRCm39) I61T possibly damaging Het
Arhgap9 T C 10: 127,161,722 (GRCm39) S238P probably damaging Het
Cdh17 A G 4: 11,810,319 (GRCm39) Y670C probably damaging Het
Ceacam20 C A 7: 19,720,607 (GRCm39) R515S probably benign Het
Cers5 A T 15: 99,637,338 (GRCm39) V274E probably damaging Het
Clip1 T C 5: 123,751,186 (GRCm39) D865G Het
Cnih3 G A 1: 181,181,072 (GRCm39) probably null Het
Coro2b G T 9: 62,396,609 (GRCm39) H44N probably benign Het
Cuta A G 17: 27,158,289 (GRCm39) probably null Het
Dchs1 T C 7: 105,415,402 (GRCm39) I625V possibly damaging Het
Ddx4 A T 13: 112,736,441 (GRCm39) F643Y probably damaging Het
Dlc1 A T 8: 37,038,518 (GRCm39) V1020E possibly damaging Het
Dnah1 G T 14: 30,998,160 (GRCm39) T2559K possibly damaging Het
Eng C T 2: 32,561,445 (GRCm39) A152V probably damaging Het
F7 G T 8: 13,083,430 (GRCm39) R190L probably benign Het
Fcgr4 T C 1: 170,847,711 (GRCm39) V103A probably damaging Het
Fer1l4 C T 2: 155,877,934 (GRCm39) V1005I probably damaging Het
Fmod A T 1: 133,968,371 (GRCm39) H137L probably damaging Het
Fndc7 T C 3: 108,790,834 (GRCm39) D64G possibly damaging Het
Gucy2c A T 6: 136,743,992 (GRCm39) C202* probably null Het
Hspg2 C T 4: 137,265,552 (GRCm39) R1783W probably damaging Het
Hyal6 T A 6: 24,743,455 (GRCm39) S384T probably damaging Het
Igsf21 T A 4: 139,794,466 (GRCm39) I136F probably damaging Het
Isl1 A G 13: 116,436,105 (GRCm39) S321P probably damaging Het
Kif5c A G 2: 49,639,378 (GRCm39) K813R probably benign Het
Klk7 A G 7: 43,461,437 (GRCm39) E18G possibly damaging Het
Lox T C 18: 52,661,400 (GRCm39) M225V probably benign Het
Lrrfip2 T A 9: 110,990,429 (GRCm39) M50K possibly damaging Het
Lrrn2 A T 1: 132,865,241 (GRCm39) Q102L probably damaging Het
Mcm3 T C 1: 20,875,562 (GRCm39) R692G probably benign Het
Mmp14 T C 14: 54,676,248 (GRCm39) V326A probably damaging Het
Muc2 G A 7: 141,298,559 (GRCm39) M70I Het
Nefl T C 14: 68,322,460 (GRCm39) probably null Het
Nlrp4e C G 7: 23,020,755 (GRCm39) A414G probably benign Het
Nup188 T A 2: 30,212,271 (GRCm39) L586Q probably damaging Het
Or10ag58 G A 2: 87,265,290 (GRCm39) G153D possibly damaging Het
Or8c13 T C 9: 38,091,327 (GRCm39) D264G probably benign Het
Pik3c2a A T 7: 115,990,558 (GRCm39) D467E probably damaging Het
Polr2g T A 19: 8,774,669 (GRCm39) K71N probably benign Het
Pramel31 A G 4: 144,089,093 (GRCm39) H137R probably benign Het
Prkci A G 3: 31,085,333 (GRCm39) K184R probably damaging Het
Prr15 G A 6: 54,306,137 (GRCm39) probably benign Het
Rin2 T A 2: 145,727,819 (GRCm39) N896K probably benign Het
Ryr3 T C 2: 112,479,640 (GRCm39) E4414G probably damaging Het
Slc4a4 T A 5: 89,376,756 (GRCm39) D994E probably damaging Het
Slc6a4 C A 11: 76,909,999 (GRCm39) P418Q probably benign Het
Smarcc2 T A 10: 128,324,076 (GRCm39) M1138K unknown Het
Snph C T 2: 151,436,208 (GRCm39) R240Q probably damaging Het
Stox2 T A 8: 47,647,095 (GRCm39) T122S probably benign Het
Tmem131l T C 3: 83,817,768 (GRCm39) D1244G probably benign Het
Tmem168 T C 6: 13,583,253 (GRCm39) I543V probably benign Het
Tyw1 T C 5: 130,291,762 (GRCm39) S77P probably damaging Het
Usp36 T G 11: 118,160,031 (GRCm39) D471A possibly damaging Het
Vmn2r102 A G 17: 19,897,558 (GRCm39) Y191C probably damaging Het
Vmn2r104 T C 17: 20,268,433 (GRCm39) Q12R possibly damaging Het
Zfp820 A T 17: 22,038,380 (GRCm39) I316N probably damaging Het
Zscan4-ps3 T C 7: 11,344,227 (GRCm39) F62L probably damaging 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
R6116:Bpifa3 UTSW 2 153,975,633 (GRCm39) missense possibly damaging 0.90
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
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'- CAACTGGGAGAGATCTTCAGCTAT -3'
(R):5'- CGAATGCCTTCCTTCTTCCTAAA -3'

Sequencing Primer
(F):5'- CAAGACTCGGATTCTACACTGGGTG -3'
(R):5'- AATGCCTTCCTTCTTCCTAAATCTTG -3'
Posted On 2022-04-18