Incidental Mutation 'R0106:Bpifb4'
ID17853
Institutional Source Beutler Lab
Gene Symbol Bpifb4
Ensembl Gene ENSMUSG00000074665
Gene NameBPI fold containing family B, member 4
SynonymsLOC381399, Gm1006
MMRRC Submission 038392-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.057) question?
Stock #R0106 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location153938212-153964101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153940968 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 31 (D31G)
Ref Sequence ENSEMBL: ENSMUSP00000105381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]
Predicted Effect probably benign
Transcript: ENSMUST00000099181
SMART Domains Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665

DomainStartEndE-ValueType
BPI1 2 177 3.47e-25 SMART
BPI2 201 403 3.62e-78 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109757
AA Change: D31G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: D31G

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 benign
Transcript: ENSMUST00000109759
AA Change: D31G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: D31G

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
Meta Mutation Damage Score 0.0736 question?
Coding Region Coverage
  • 1x: 87.6%
  • 3x: 83.1%
  • 10x: 68.0%
  • 20x: 43.0%
Validation Efficiency 97% (89/92)
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik A T 11: 43,587,373 probably benign Het
A730018C14Rik A T 12: 112,415,194 noncoding transcript Het
Abca5 A T 11: 110,319,825 L176Q probably damaging Het
Aspm C A 1: 139,476,876 Q1315K probably benign Het
BC055324 T C 1: 163,982,811 probably benign Het
Brf1 A G 12: 112,973,463 probably benign Het
Card19 A C 13: 49,208,145 D3E probably benign Het
Chd6 A G 2: 160,967,902 F1480L probably damaging Het
Cldn25-ps A G 9: 49,047,633 noncoding transcript Het
Col11a2 A G 17: 34,057,275 N799D probably damaging Het
Cpb1 T C 3: 20,266,533 probably null Het
Cyp2g1 T A 7: 26,814,182 I182N probably damaging Het
Dntt A T 19: 41,055,746 probably benign Het
Dscc1 C A 15: 55,083,570 C253F probably benign Het
Dysf C A 6: 84,113,336 F956L probably benign Het
Ephb6 T C 6: 41,619,594 probably benign Het
Fkbp6 C T 5: 135,340,004 R234Q probably benign Het
Gda T C 19: 21,397,556 D332G probably benign Het
Ggt7 C T 2: 155,494,893 A560T possibly damaging Het
Glis3 A T 19: 28,531,868 S239T possibly damaging Het
Glyctk G A 9: 106,155,969 P124L probably benign Het
Gm10845 T A 14: 79,863,204 noncoding transcript Het
H13 A G 2: 152,686,256 K175R probably benign Het
Igsf6 T A 7: 121,074,454 I18F probably benign Het
Immt A G 6: 71,851,844 S128G probably benign Het
Isy1 G A 6: 87,819,185 R257W probably damaging Het
Kif13a G T 13: 46,825,347 probably benign Het
L2hgdh A T 12: 69,705,789 Y239* probably null Het
Lamp1 A G 8: 13,174,550 T405A probably damaging Het
Lpin1 A T 12: 16,540,979 N817K possibly damaging Het
Macf1 G A 4: 123,408,564 T715I probably benign Het
Mapk12 T C 15: 89,132,984 probably benign Het
Mdga2 A T 12: 66,716,706 N205K probably damaging Het
Nat10 A G 2: 103,757,205 V55A probably damaging Het
Nlrp10 T C 7: 108,925,322 E317G possibly damaging Het
Nolc1 T A 19: 46,080,089 probably benign Het
Nomo1 T C 7: 46,037,632 I72T probably damaging Het
Olfr1450 A G 19: 12,954,356 I256V probably benign Het
Pappa2 C T 1: 158,714,977 C1780Y probably damaging Het
Pgm2l1 A G 7: 100,250,373 M65V probably benign Het
Pnisr T C 4: 21,874,617 probably benign Het
Prss34 A T 17: 25,298,726 D25V probably damaging Het
Ptpn1 T C 2: 167,976,418 probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Pygb A G 2: 150,806,203 D119G probably benign Het
Racgap1 T C 15: 99,642,958 T4A possibly damaging Het
Rap1gap2 A G 11: 74,435,744 C166R probably benign Het
Rbm28 C A 6: 29,127,803 V705L probably benign Het
Rgs1 C T 1: 144,248,549 V50M probably benign Het
Rgs12 C T 5: 34,966,664 T597I probably benign Het
Ros1 T C 10: 52,142,267 N765S possibly damaging Het
Ruvbl1 A G 6: 88,473,200 R58G probably damaging Het
Slc6a7 A G 18: 61,002,223 V411A probably benign Het
Slco1a6 A T 6: 142,157,390 probably benign Het
Smc1b A T 15: 85,070,819 D1077E probably damaging Het
Srek1 G A 13: 103,743,623 H476Y unknown Het
Strn3 A G 12: 51,621,788 V673A probably benign Het
Tepsin T C 11: 120,091,811 probably null Het
Tmem131l C T 3: 83,934,815 probably benign Het
Tmem132c T C 5: 127,554,669 V664A possibly damaging Het
Tmprss15 T C 16: 79,003,389 D602G probably damaging Het
Trbv15 T C 6: 41,141,265 probably benign Het
Trpm4 A G 7: 45,319,240 probably null Het
Wdr70 A T 15: 8,019,587 probably null Het
Other mutations in Bpifb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01567:Bpifb4 APN 2 153947278 splice site probably benign
IGL01641:Bpifb4 APN 2 153942681 missense possibly damaging 0.96
IGL01653:Bpifb4 APN 2 153944783 missense probably damaging 1.00
IGL02745:Bpifb4 APN 2 153947221 missense probably damaging 1.00
R0309:Bpifb4 UTSW 2 153959683 missense probably damaging 0.97
R0561:Bpifb4 UTSW 2 153944822 missense probably damaging 1.00
R0601:Bpifb4 UTSW 2 153947283 splice site probably benign
R1937:Bpifb4 UTSW 2 153944076 missense probably damaging 0.98
R2433:Bpifb4 UTSW 2 153959677 missense probably damaging 0.98
R2679:Bpifb4 UTSW 2 153948624 missense probably damaging 0.97
R2896:Bpifb4 UTSW 2 153954437 splice site probably benign
R4701:Bpifb4 UTSW 2 153950385 missense probably damaging 1.00
R4772:Bpifb4 UTSW 2 153942983 missense possibly damaging 0.93
R5403:Bpifb4 UTSW 2 153943992 missense probably damaging 0.99
R5695:Bpifb4 UTSW 2 153942923 missense probably damaging 0.99
R5894:Bpifb4 UTSW 2 153940932 missense possibly damaging 0.49
R6007:Bpifb4 UTSW 2 153942560 missense possibly damaging 0.49
R6302:Bpifb4 UTSW 2 153959667 missense probably benign 0.00
R6351:Bpifb4 UTSW 2 153957134 missense probably damaging 0.96
R6755:Bpifb4 UTSW 2 153957738 missense probably damaging 0.98
R6796:Bpifb4 UTSW 2 153961547 missense probably damaging 1.00
R6932:Bpifb4 UTSW 2 153942627 missense possibly damaging 0.49
R7489:Bpifb4 UTSW 2 153944004 missense probably damaging 1.00
RF061:Bpifb4 UTSW 2 153957128 critical splice acceptor site probably benign
X0018:Bpifb4 UTSW 2 153944061 missense probably damaging 1.00
Z1176:Bpifb4 UTSW 2 153942832 missense probably benign 0.33
Posted On2013-03-25