Incidental Mutation 'R6351:Bpifb4'
ID 514216
Institutional Source Beutler Lab
Gene Symbol Bpifb4
Ensembl Gene ENSMUSG00000074665
Gene Name BPI fold containing family B, member 4
Synonyms Gm1006, LOC381399
Accession Numbers
Essential gene? Probably non essential (E-score: 0.049) question?
Stock # R6351 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 153780137-153805772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 153799054 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 528 (T528I)
Ref Sequence ENSEMBL: ENSMUSP00000105381 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099181] [ENSMUST00000109757] [ENSMUST00000109759]
AlphaFold A2BGH0
Predicted Effect probably benign
Transcript: ENSMUST00000099181
AA Change: T314I

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000096786
Gene: ENSMUSG00000074665
AA Change: T314I

DomainStartEndE-ValueType
BPI1 2 177 3.47e-25 SMART
BPI2 201 403 3.62e-78 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000109757
AA Change: T528I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105379
Gene: ENSMUSG00000074665
AA Change: T528I

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: T528I

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105381
Gene: ENSMUSG00000074665
AA Change: T528I

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
BPI1 171 391 1.23e-48 SMART
BPI2 415 617 3.62e-78 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 99% (95/96)
Allele List at MGI
Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a C A 9: 119,170,630 (GRCm39) S17* probably null Het
Adamts16 T A 13: 70,984,322 (GRCm39) S114C probably damaging Het
Agpat5 T C 8: 18,896,724 (GRCm39) V50A probably benign Het
Agrn T C 4: 156,263,891 (GRCm39) N124S probably benign Het
Ak8 T C 2: 28,625,638 (GRCm39) I227T probably benign Het
Akap6 A G 12: 53,188,808 (GRCm39) E2074G probably damaging Het
Apc T A 18: 34,445,265 (GRCm39) S702R probably damaging Het
Ascc3 T C 10: 50,596,769 (GRCm39) I1233T probably damaging Het
Asphd2 A T 5: 112,533,698 (GRCm39) F318I probably damaging Het
Bltp1 G A 3: 36,962,377 (GRCm39) A493T probably damaging Het
Bnc2 T C 4: 84,211,380 (GRCm39) T397A probably benign Het
Brinp3 A G 1: 146,777,323 (GRCm39) E590G probably damaging Het
Ccdc149 A G 5: 52,542,477 (GRCm39) S372P probably benign Het
Cdhr2 A G 13: 54,874,589 (GRCm39) H887R probably benign Het
Clcn6 C T 4: 148,101,957 (GRCm39) V376I probably benign Het
Cntln T G 4: 85,033,591 (GRCm39) C1305W probably damaging Het
Cspg4 A G 9: 56,799,928 (GRCm39) D1564G probably benign Het
Cux1 A T 5: 136,338,646 (GRCm39) S582T probably damaging Het
Cwh43 G A 5: 73,569,248 (GRCm39) A97T possibly damaging Het
Dsc1 A T 18: 20,219,826 (GRCm39) F781L probably damaging Het
Dsc3 G T 18: 20,099,348 (GRCm39) H723N probably benign Het
Ear10 A T 14: 44,160,512 (GRCm39) V105D probably damaging Het
Ecel1 A G 1: 87,077,231 (GRCm39) V659A possibly damaging Het
Eogt A T 6: 97,097,155 (GRCm39) F316I probably damaging Het
Etaa1 T C 11: 17,897,188 (GRCm39) N310D possibly damaging Het
Exoc3l2 G A 7: 19,203,633 (GRCm39) R75Q possibly damaging Het
Fam186a A C 15: 99,839,623 (GRCm39) L2207R probably damaging Het
Fam187b T C 7: 30,677,024 (GRCm39) Y178H probably damaging Het
Fat1 A T 8: 45,486,532 (GRCm39) Q3362L probably damaging Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fsip2 G A 2: 82,823,028 (GRCm39) V6254I possibly damaging Het
Gabra5 T C 7: 57,063,528 (GRCm39) T299A probably damaging Het
Gbp11 T C 5: 105,475,464 (GRCm39) T295A probably benign Het
Glcci1 C T 6: 8,573,203 (GRCm39) Q44* probably null Het
Gpc5 A T 14: 115,636,612 (GRCm39) T432S probably benign Het
Grhl1 G A 12: 24,634,857 (GRCm39) E228K probably damaging Het
Hyal5 T C 6: 24,891,708 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ints9 A G 14: 65,230,456 (GRCm39) I128V probably damaging Het
Kcnt2 A T 1: 140,302,850 (GRCm39) N130I probably damaging Het
Krba1 T C 6: 48,391,062 (GRCm39) V717A probably benign Het
Lrp12 T A 15: 39,741,584 (GRCm39) D377V probably damaging Het
Magi1 G T 6: 93,920,210 (GRCm39) D135E possibly damaging Het
Map10 T A 8: 126,397,984 (GRCm39) L459Q probably damaging Het
Mitf A G 6: 97,980,873 (GRCm39) D238G possibly damaging Het
Ms4a19 C T 19: 11,119,765 (GRCm39) G14D probably damaging Het
Mylk G T 16: 34,742,341 (GRCm39) R951L probably benign Het
Nacad T A 11: 6,549,235 (GRCm39) D1272V probably damaging Het
Nacad T A 11: 6,550,165 (GRCm39) K1009* probably null Het
Ncor1 T C 11: 62,264,124 (GRCm39) D786G probably benign Het
Oas2 G A 5: 120,886,603 (GRCm39) R188C probably benign Het
Odf2l A G 3: 144,841,479 (GRCm39) I300V probably benign Het
Or1j10 T A 2: 36,267,208 (GRCm39) V140D possibly damaging Het
Or51b17 A T 7: 103,542,342 (GRCm39) L200* probably null Het
Or51v8 A G 7: 103,320,163 (GRCm39) I25T possibly damaging Het
Or5p60 A G 7: 107,723,637 (GRCm39) S278P probably damaging Het
Or9i1 A G 19: 13,839,186 (GRCm39) T10A probably benign Het
Pes1 T A 11: 3,928,865 (GRCm39) D574E probably benign Het
Phf20 C T 2: 156,136,130 (GRCm39) R650C possibly damaging Het
Pias4 G A 10: 80,993,098 (GRCm39) T248I probably damaging Het
Pkhd1 T C 1: 20,282,175 (GRCm39) T2889A probably benign Het
Plcxd1 C A 5: 110,250,033 (GRCm39) probably null Het
Plekha7 A G 7: 115,776,133 (GRCm39) F194L probably damaging Het
Plxnb2 T C 15: 89,041,973 (GRCm39) N1642S possibly damaging Het
Pnpla7 A T 2: 24,901,576 (GRCm39) D534V probably damaging Het
Ppp2r5c A T 12: 110,521,313 (GRCm39) S279C probably damaging Het
Ptprq T A 10: 107,544,529 (GRCm39) T334S probably damaging Het
Rab39 T C 9: 53,597,821 (GRCm39) D148G probably benign Het
Reep3 A T 10: 66,870,432 (GRCm39) F121L probably benign Het
Reln G T 5: 22,106,661 (GRCm39) C3236* probably null Het
Rrp8 C T 7: 105,384,016 (GRCm39) C162Y probably damaging Het
Scrib C A 15: 75,936,835 (GRCm39) Q399H possibly damaging Het
Sertad1 T A 7: 27,189,224 (GRCm39) Y182N possibly damaging Het
Sfrp5 A G 19: 42,190,263 (GRCm39) V63A possibly damaging Het
Shoc1 T C 4: 59,069,317 (GRCm39) D703G probably benign Het
Slc46a1 T C 11: 78,357,985 (GRCm39) M346T probably benign Het
Sycp2 A G 2: 178,005,209 (GRCm39) L886S probably damaging Het
Teddm1b A T 1: 153,750,505 (GRCm39) I105F probably benign Het
Thumpd1 A T 7: 119,319,828 (GRCm39) I46N possibly damaging Het
Tmod4 A G 3: 95,035,164 (GRCm39) N223S probably damaging Het
Tnfrsf10b G C 14: 70,010,850 (GRCm39) C85S probably damaging Het
Tox T C 4: 6,697,439 (GRCm39) T455A probably benign Het
Tox T C 4: 6,741,536 (GRCm39) Q148R probably benign Het
Trp53bp1 A C 2: 121,100,426 (GRCm39) S109R probably damaging Het
Tshz2 A T 2: 169,726,888 (GRCm39) T26S probably benign Het
Tubb4a T A 17: 57,388,016 (GRCm39) N337Y probably damaging Het
Tubb6 T A 18: 67,534,458 (GRCm39) V119E probably damaging Het
Unk C T 11: 115,945,772 (GRCm39) T481I probably benign Het
Vmn2r112 C T 17: 22,820,259 (GRCm39) T44I probably benign Het
Vstm5 G A 9: 15,168,829 (GRCm39) G131D probably damaging Het
Wscd1 T C 11: 71,650,709 (GRCm39) L12P probably damaging Het
Zfp369 T A 13: 65,444,044 (GRCm39) S396T possibly damaging Het
Zfp932 T A 5: 110,157,209 (GRCm39) C302* probably null Het
Zfp972 A T 2: 177,548,728 (GRCm39) probably null Het
Zfyve21 C A 12: 111,794,028 (GRCm39) A212E probably benign 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
R5403:Bpifb4 UTSW 2 153,785,912 (GRCm39) missense probably damaging 0.99
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
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'- GCATGGCATACACTACCATTC -3'
(R):5'- GCAGGTTCTTTCAGTATGCAGG -3'

Sequencing Primer
(F):5'- CATCTGATGATGCCAAGCAAG -3'
(R):5'- GGTTCTTTCAGTATGCAGGTAATAAC -3'
Posted On 2018-04-27