Incidental Mutation 'R2255:Bpifa6'
ID 241917
Institutional Source Beutler Lab
Gene Symbol Bpifa6
Ensembl Gene ENSMUSG00000078998
Gene Name BPI fold containing family A, member 6
Synonyms Gm5840
MMRRC Submission 040255-MU
Accession Numbers

Genbank: NM_001080811MGI: 3647736  

Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R2255 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 153974945-154000495 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 153990895 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 310 (I310N)
Ref Sequence ENSEMBL: ENSMUSP00000105375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109753]
AlphaFold Q0VGU8
Predicted Effect probably damaging
Transcript: ENSMUST00000109753
AA Change: I310N

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: I310N

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:LBP_BPI_CETP 176 319 1.4e-9 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 G A 17: 46,305,635 (GRCm38) T1210I probably benign Het
Agbl1 T C 7: 76,422,184 (GRCm38) F581S probably damaging Het
Ambra1 A T 2: 91,917,461 (GRCm38) N1061Y probably damaging Het
Arl6ip5 T C 6: 97,232,400 (GRCm38) L132S probably damaging Het
Atp10b G A 11: 43,234,380 (GRCm38) V1058I probably damaging Het
AU022751 T G X: 6,082,700 (GRCm38) E87A probably benign Het
B3gnt4 A C 5: 123,511,279 (GRCm38) I236L probably damaging Het
Bmper T A 9: 23,381,463 (GRCm38) I356N possibly damaging Het
Btnl9 A T 11: 49,169,316 (GRCm38) L535* probably null Het
Capn3 A G 2: 120,501,251 (GRCm38) E614G probably benign Het
Catip T C 1: 74,369,000 (GRCm38) probably benign Het
Ccdc144b A G 3: 36,019,950 (GRCm38) V350A probably benign Het
Ccdc180 T A 4: 45,921,996 (GRCm38) S1023R probably damaging Het
Ces2g G A 8: 104,967,414 (GRCm38) E461K probably damaging Het
Chad C A 11: 94,565,697 (GRCm38) H200Q possibly damaging Het
Crbn C T 6: 106,795,198 (GRCm38) probably null Het
Crip3 G C 17: 46,429,372 (GRCm38) E33Q probably damaging Het
D130043K22Rik A T 13: 24,856,911 (GRCm38) R105S probably damaging Het
Dmxl1 C T 18: 49,846,639 (GRCm38) H114Y probably benign Het
Doxl2 G A 6: 48,975,957 (GRCm38) R272H possibly damaging Het
Dpp3 T C 19: 4,918,319 (GRCm38) N242D probably benign Het
Dtx3l T C 16: 35,936,579 (GRCm38) N78S probably benign Het
Dync2h1 A G 9: 6,955,905 (GRCm38) probably null Het
Esrp1 A G 4: 11,365,211 (GRCm38) V260A probably damaging Het
Etfdh A G 3: 79,604,042 (GRCm38) V544A probably benign Het
Fcgr1 G T 3: 96,285,917 (GRCm38) H255N possibly damaging Het
Fcrls G T 3: 87,257,348 (GRCm38) Y290* probably null Het
Frem2 A G 3: 53,652,514 (GRCm38) V1524A probably damaging Het
Gabbr1 T C 17: 37,071,866 (GRCm38) I817T probably damaging Het
Gapdhs G C 7: 30,729,908 (GRCm38) probably null Het
Gopc A T 10: 52,349,085 (GRCm38) I356K probably damaging Het
Gpi1 T C 7: 34,202,877 (GRCm38) N471S probably damaging Het
Gpr171 A G 3: 59,098,207 (GRCm38) V49A probably benign Het
Greb1l T A 18: 10,554,857 (GRCm38) N1634K probably damaging Het
Gria1 G A 11: 57,185,949 (GRCm38) R57H probably damaging Het
Herpud1 A G 8: 94,394,613 (GRCm38) E344G probably benign Het
Hhip A G 8: 80,045,181 (GRCm38) F167L probably damaging Het
Hp1bp3 T A 4: 138,225,898 (GRCm38) D84E probably damaging Het
Ier3 A G 17: 35,822,261 (GRCm38) Y145C probably damaging Het
Ifi47 A T 11: 49,096,647 (GRCm38) I414L probably benign Het
Ifnl2 C T 7: 28,510,213 (GRCm38) A50T possibly damaging Het
Jade1 A G 3: 41,591,750 (GRCm38) Y70C probably damaging Het
Kif1b A T 4: 149,274,997 (GRCm38) F94L probably damaging Het
Krt33a A T 11: 100,014,178 (GRCm38) D167E possibly damaging Het
Map1a A G 2: 121,303,791 (GRCm38) D1458G possibly damaging Het
Mrgpra4 A G 7: 47,981,775 (GRCm38) L26S possibly damaging Het
Mtmr2 T C 9: 13,796,057 (GRCm38) Y230H possibly damaging Het
Nae1 T A 8: 104,530,068 (GRCm38) D69V probably damaging Het
Nbr1 T A 11: 101,572,817 (GRCm38) V625E possibly damaging Het
Nek1 T C 8: 61,089,773 (GRCm38) L702P probably damaging Het
Ntf3 T C 6: 126,101,726 (GRCm38) *272W probably null Het
Ofcc1 A C 13: 40,094,705 (GRCm38) L651R probably damaging Het
Olfm3 A T 3: 115,122,193 (GRCm38) probably null Het
Pcdhb19 C T 18: 37,497,944 (GRCm38) A264V probably benign Het
Pear1 C A 3: 87,752,186 (GRCm38) W780C probably damaging Het
Pkhd1 T A 1: 20,565,639 (GRCm38) H489L probably benign Het
Pros1 T A 16: 62,903,572 (GRCm38) C228S possibly damaging Het
Rbm10 G A X: 20,635,739 (GRCm38) R9H unknown Het
Rwdd1 T C 10: 34,002,470 (GRCm38) E123G probably damaging Het
Slc17a2 T C 13: 23,821,008 (GRCm38) I412T probably benign Het
Slc22a2 G T 17: 12,599,175 (GRCm38) V213F probably damaging Het
Smarca2 A T 19: 26,771,038 (GRCm38) I98L probably benign Het
Spag6l T C 16: 16,777,339 (GRCm38) E394G probably damaging Het
Spdef T C 17: 27,720,295 (GRCm38) T26A probably benign Het
Stk17b T C 1: 53,776,572 (GRCm38) I23V probably benign Het
Sult2a7 A G 7: 14,491,893 (GRCm38) I56T probably damaging Het
Tango6 T A 8: 106,689,294 (GRCm38) probably null Het
Tex46 T C 4: 136,610,533 (GRCm38) L12P possibly damaging Het
Ttn A T 2: 76,811,243 (GRCm38) L5176Q possibly damaging Het
Ttn T A 2: 76,768,340 (GRCm38) M19410L possibly damaging Het
Unc5cl T A 17: 48,459,946 (GRCm38) I116N possibly damaging Het
Unc80 A T 1: 66,618,258 (GRCm38) I1630F possibly damaging Het
Upb1 G A 10: 75,436,217 (GRCm38) R288H probably damaging Het
Wdr62 T G 7: 30,267,903 (GRCm38) I309L probably damaging Het
Whrn C T 4: 63,418,148 (GRCm38) V295M possibly damaging Het
Wrn G A 8: 33,329,202 (GRCm38) P241S probably benign Het
Zer1 G A 2: 30,108,274 (GRCm38) L342F probably damaging Het
Zfp687 A T 3: 95,010,437 (GRCm38) C675S probably damaging Het
Zfp954 A G 7: 7,115,322 (GRCm38) Y408H possibly damaging Het
Other mutations in Bpifa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Bpifa6 APN 2 153,990,466 (GRCm38) missense probably benign 0.00
IGL01805:Bpifa6 APN 2 153,984,912 (GRCm38) missense probably benign 0.03
IGL02246:Bpifa6 APN 2 153,989,276 (GRCm38) missense probably damaging 0.98
IGL02275:Bpifa6 APN 2 153,992,272 (GRCm38) missense probably benign 0.40
IGL02405:Bpifa6 APN 2 153,990,862 (GRCm38) nonsense probably null
IGL02587:Bpifa6 APN 2 153,989,210 (GRCm38) missense probably damaging 0.99
IGL03365:Bpifa6 APN 2 153,989,284 (GRCm38) missense possibly damaging 0.71
F6893:Bpifa6 UTSW 2 153,987,158 (GRCm38) missense probably damaging 1.00
FR4976:Bpifa6 UTSW 2 153,986,398 (GRCm38) missense probably benign
FR4976:Bpifa6 UTSW 2 153,986,376 (GRCm38) missense probably benign
R0131:Bpifa6 UTSW 2 153,982,931 (GRCm38) missense probably benign 0.11
R0131:Bpifa6 UTSW 2 153,982,931 (GRCm38) missense probably benign 0.11
R0132:Bpifa6 UTSW 2 153,982,931 (GRCm38) missense probably benign 0.11
R0799:Bpifa6 UTSW 2 153,992,272 (GRCm38) missense probably benign 0.40
R1468:Bpifa6 UTSW 2 153,989,272 (GRCm38) missense probably benign 0.01
R1468:Bpifa6 UTSW 2 153,989,272 (GRCm38) missense probably benign 0.01
R1767:Bpifa6 UTSW 2 153,987,227 (GRCm38) missense possibly damaging 0.95
R2857:Bpifa6 UTSW 2 153,989,274 (GRCm38) missense probably benign 0.03
R3430:Bpifa6 UTSW 2 153,989,251 (GRCm38) missense probably benign 0.00
R4616:Bpifa6 UTSW 2 153,982,988 (GRCm38) missense possibly damaging 0.47
R5420:Bpifa6 UTSW 2 153,989,330 (GRCm38) missense probably damaging 0.98
R6224:Bpifa6 UTSW 2 153,987,153 (GRCm38) missense probably damaging 0.99
R6483:Bpifa6 UTSW 2 153,990,434 (GRCm38) missense probably benign 0.13
R6552:Bpifa6 UTSW 2 153,987,158 (GRCm38) missense probably damaging 0.99
R7061:Bpifa6 UTSW 2 153,992,316 (GRCm38) missense probably benign 0.00
R7378:Bpifa6 UTSW 2 153,986,433 (GRCm38) missense probably damaging 0.99
R7472:Bpifa6 UTSW 2 153,989,329 (GRCm38) missense possibly damaging 0.93
R8313:Bpifa6 UTSW 2 153,989,258 (GRCm38) nonsense probably null
R9193:Bpifa6 UTSW 2 153,984,820 (GRCm38) missense probably benign 0.38
R9309:Bpifa6 UTSW 2 153,992,287 (GRCm38) missense probably benign 0.03
R9316:Bpifa6 UTSW 2 153,986,463 (GRCm38) missense possibly damaging 0.85
Predicted Primers PCR Primer
(F):5'- AGCTTAGGCCTGTGTAAGAGG -3'
(R):5'- TGGAAGACCTTGATGGCATGC -3'

Sequencing Primer
(F):5'- CCTGTGTAAGAGGGAGGTTGTAAC -3'
(R):5'- ACCTTGATGGCATGCCCTGAG -3'
Posted On 2014-10-16