Incidental Mutation 'R5403:Bpifb4'
ID 430089
Institutional Source Beutler Lab
Gene Symbol Bpifb4
Ensembl Gene ENSMUSG00000074665
Gene Name BPI fold containing family B, member 4
Synonyms Gm1006, LOC381399
MMRRC Submission 042974-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R5403 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 153780137-153805772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 153785912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 17 (I17F)
Ref Sequence ENSEMBL: ENSMUSP00000096786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]
AlphaFold A2BGH0
Predicted Effect probably damaging
Transcript: ENSMUST00000099181
AA Change: I17F

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: I17F

DomainStartEndE-ValueType
BPI1 2 177 3.47e-25 SMART
BPI2 201 403 3.62e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109757
AA Change: I231F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: I231F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 171 391 1.23e-48 SMART
BPI2 415 617 3.62e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109759
AA Change: I231F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: I231F

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 171 391 1.23e-48 SMART
BPI2 415 617 3.62e-78 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154281
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155239
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G T 17: 57,183,221 (GRCm39) probably benign Het
Adamts6 A G 13: 104,489,323 (GRCm39) D392G possibly damaging Het
Adcy8 C T 15: 64,588,001 (GRCm39) V929I probably benign Het
Alkbh8 A G 9: 3,385,318 (GRCm39) K537E probably benign Het
Anp32a A T 9: 62,249,275 (GRCm39) I16F possibly damaging Het
Asb18 T C 1: 89,942,110 (GRCm39) T64A probably benign Het
Brd7 G T 8: 89,084,169 (GRCm39) Q148K probably damaging Het
Brinp1 A G 4: 68,711,201 (GRCm39) W336R probably benign Het
Ccdc88b T A 19: 6,835,108 (GRCm39) T38S unknown Het
Cd46 C T 1: 194,744,719 (GRCm39) V340I possibly damaging Het
Cdr2 G A 7: 120,557,968 (GRCm39) Q186* probably null Het
Ces1e T G 8: 93,935,240 (GRCm39) D404A probably benign Het
Chd3 A T 11: 69,239,895 (GRCm39) probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntnap3 G A 13: 64,909,792 (GRCm39) T771I possibly damaging Het
Cops8 C T 1: 90,534,342 (GRCm39) probably benign Het
Csmd2 C T 4: 128,380,677 (GRCm39) R2078C probably benign Het
Ddx50 A G 10: 62,482,809 (GRCm39) S87P probably benign Het
Dennd2b A G 7: 109,156,112 (GRCm39) S213P probably damaging Het
Dlg2 A G 7: 92,080,210 (GRCm39) T598A probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epha6 A T 16: 59,595,933 (GRCm39) D919E probably damaging Het
Fndc9 C T 11: 46,128,541 (GRCm39) S20L probably benign Het
Gpx6 A G 13: 21,501,813 (GRCm39) E145G probably damaging Het
Hc A G 2: 34,947,446 (GRCm39) Y23H probably damaging Het
Insyn2b A T 11: 34,353,058 (GRCm39) T367S probably benign Het
Jmy G T 13: 93,577,904 (GRCm39) Q755K probably benign Het
Krtap4-7 A T 11: 99,534,540 (GRCm39) S108T unknown Het
Mgat5b T G 11: 116,839,483 (GRCm39) I333S probably benign Het
Mrtfb A G 16: 13,218,877 (GRCm39) T519A probably damaging Het
Naip6 G A 13: 100,436,585 (GRCm39) A646V probably benign Het
Opn4 T C 14: 34,314,894 (GRCm39) T460A probably benign Het
Or6b2 A T 1: 92,408,019 (GRCm39) V108E possibly damaging Het
Or8g22 G T 9: 38,957,999 (GRCm39) P239T probably damaging Het
Otogl T A 10: 107,644,617 (GRCm39) M1210L probably benign Het
Pheta1 A G 5: 121,990,794 (GRCm39) E52G possibly damaging Het
Phf24 A T 4: 42,933,831 (GRCm39) probably null Het
Ppargc1a G A 5: 51,620,167 (GRCm39) probably benign Het
Ptprd G A 4: 75,872,405 (GRCm39) R1355* probably null Het
Rad50 A G 11: 53,586,108 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Tbcd C A 11: 121,451,569 (GRCm39) N546K probably damaging Het
Tenm4 A G 7: 96,538,034 (GRCm39) D1832G probably damaging Het
Tfap2e T C 4: 126,628,439 (GRCm39) I172M probably benign Het
Tnip2 A G 5: 34,671,108 (GRCm39) L45P probably damaging Het
Ttc3 T C 16: 94,260,703 (GRCm39) V1396A probably benign Het
Ube2o A T 11: 116,439,633 (GRCm39) I179N possibly damaging Het
Usp17le T C 7: 104,418,441 (GRCm39) I234V probably damaging Het
Zfp106 T C 2: 120,365,262 (GRCm39) T382A probably benign Het
Zfp607a A G 7: 27,578,744 (GRCm39) K605E possibly damaging Het
Zmynd10 T A 9: 107,427,785 (GRCm39) L363H possibly damaging Het
Other mutations in Bpifb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Bpifb4 APN 2 153,789,198 (GRCm39) splice site probably benign
IGL01641:Bpifb4 APN 2 153,784,601 (GRCm39) missense possibly damaging 0.96
IGL01653:Bpifb4 APN 2 153,786,703 (GRCm39) missense probably damaging 1.00
IGL02745:Bpifb4 APN 2 153,789,141 (GRCm39) missense probably damaging 1.00
R0106:Bpifb4 UTSW 2 153,782,888 (GRCm39) missense probably benign 0.02
R0309:Bpifb4 UTSW 2 153,801,603 (GRCm39) missense probably damaging 0.97
R0561:Bpifb4 UTSW 2 153,786,742 (GRCm39) missense probably damaging 1.00
R0601:Bpifb4 UTSW 2 153,789,203 (GRCm39) splice site probably benign
R1937:Bpifb4 UTSW 2 153,785,996 (GRCm39) missense probably damaging 0.98
R2433:Bpifb4 UTSW 2 153,801,597 (GRCm39) missense probably damaging 0.98
R2679:Bpifb4 UTSW 2 153,790,544 (GRCm39) missense probably damaging 0.97
R2896:Bpifb4 UTSW 2 153,796,357 (GRCm39) splice site probably benign
R4701:Bpifb4 UTSW 2 153,792,305 (GRCm39) missense probably damaging 1.00
R4772:Bpifb4 UTSW 2 153,784,903 (GRCm39) missense possibly damaging 0.93
R5695:Bpifb4 UTSW 2 153,784,843 (GRCm39) missense probably damaging 0.99
R5894:Bpifb4 UTSW 2 153,782,852 (GRCm39) missense possibly damaging 0.49
R6007:Bpifb4 UTSW 2 153,784,480 (GRCm39) missense possibly damaging 0.49
R6302:Bpifb4 UTSW 2 153,801,587 (GRCm39) missense probably benign 0.00
R6351:Bpifb4 UTSW 2 153,799,054 (GRCm39) missense probably damaging 0.96
R6755:Bpifb4 UTSW 2 153,799,658 (GRCm39) missense probably damaging 0.98
R6796:Bpifb4 UTSW 2 153,803,467 (GRCm39) missense probably damaging 1.00
R6932:Bpifb4 UTSW 2 153,784,547 (GRCm39) missense possibly damaging 0.49
R7489:Bpifb4 UTSW 2 153,785,924 (GRCm39) missense probably damaging 1.00
R7986:Bpifb4 UTSW 2 153,799,650 (GRCm39) missense probably benign 0.00
R8826:Bpifb4 UTSW 2 153,783,817 (GRCm39) missense probably benign 0.01
R9019:Bpifb4 UTSW 2 153,790,607 (GRCm39) nonsense probably null
RF061:Bpifb4 UTSW 2 153,799,048 (GRCm39) critical splice acceptor site probably benign
X0018:Bpifb4 UTSW 2 153,785,981 (GRCm39) missense probably damaging 1.00
Z1176:Bpifb4 UTSW 2 153,784,752 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- GGGGCAGTGTCTTCACAAAAG -3'
(R):5'- ATGGATGCAGCAACCACAG -3'

Sequencing Primer
(F):5'- GGCAGTGTCTTCACAAAAGATTCAG -3'
(R):5'- TGCAGCAACCACAGGTGATG -3'
Posted On 2016-09-06