Incidental Mutation 'R7427:Bpifb5'
ID576155
Institutional Source Beutler Lab
Gene Symbol Bpifb5
Ensembl Gene ENSMUSG00000038572
Gene NameBPI fold containing family B, member 5
SynonymsBC018465
MMRRC Submission
Accession Numbers

Genbank: NM_144890; MGI: 2385160

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R7427 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location154223742-154240902 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 154225122 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 98 (M98I)
Ref Sequence ENSEMBL: ENSMUSP00000046683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000045959] [ENSMUST00000081816]
Predicted Effect probably benign
Transcript: ENSMUST00000028987
SMART Domains Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000045959
AA Change: M98I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
AA Change: M98I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
coiled coil region 26 54 N/A INTRINSIC
Pfam:LBP_BPI_CETP 94 231 7.6e-14 PFAM
Blast:BPI2 291 488 4e-91 BLAST
SCOP:d1ewfa2 433 486 8e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081816
SMART Domains Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (78/78)
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931423N10Rik C T 2: 23,256,994 R337C probably benign Het
Adck5 T A 15: 76,594,385 C318S possibly damaging Het
Aspm T A 1: 139,457,616 C333S probably benign Het
B3gnt4 A G 5: 123,510,731 N53S probably damaging Het
Cacna2d3 A G 14: 29,064,275 M585T probably damaging Het
Cbarp T C 10: 80,131,304 D701G probably damaging Het
Cntrl T A 2: 35,170,534 W1913R probably benign Het
Cry2 T C 2: 92,413,047 D483G possibly damaging Het
Csmd1 A G 8: 16,023,850 F2044L possibly damaging Het
Ctgf T G 10: 24,597,499 M312R probably damaging Het
Cxcl16 A G 11: 70,458,804 V78A possibly damaging Het
Cxcr6 A T 9: 123,810,240 Y109F probably benign Het
Cyb5b A G 8: 107,170,416 D106G probably benign Het
D630036H23Rik T C 12: 36,381,538 R154G unknown Het
Dnah9 T C 11: 65,955,219 T2998A probably benign Het
Focad T C 4: 88,368,751 S1254P unknown Het
Gm21886 A T 18: 80,089,652 L97Q probably damaging Het
Gm6614 T G 6: 142,003,508 probably null Het
Gpr158 A C 2: 21,827,318 L1076F probably benign Het
Hivep2 T C 10: 14,133,741 M1714T possibly damaging Het
Hlcs A G 16: 94,267,899 V154A probably benign Het
Hpdl A T 4: 116,820,865 L133Q probably damaging Het
Il1rn C A 2: 24,349,542 T150K probably benign Het
Il6st A G 13: 112,488,560 I237V probably benign Het
Inpp5f A G 7: 128,679,805 D510G probably damaging Het
Ism2 G T 12: 87,286,995 T92K possibly damaging Het
Kif13b T C 14: 64,788,460 I1422T probably benign Het
Kit G A 5: 75,645,847 V671I possibly damaging Het
Klhdc8a A T 1: 132,302,967 N190I probably damaging Het
Lad1 C T 1: 135,825,838 T41I probably damaging Het
Lrrc7 G T 3: 158,198,141 T294K probably benign Het
Megf8 C T 7: 25,338,371 R771C probably benign Het
Micu3 A C 8: 40,378,914 N440T possibly damaging Het
Mnx1 T C 5: 29,474,213 N291D unknown Het
Mthfr A G 4: 148,051,603 M378V probably benign Het
Mup2 A T 4: 60,138,454 D79E probably benign Het
Myzap T C 9: 71,505,183 T451A probably benign Het
Nlrp9c T C 7: 26,371,435 D907G probably benign Het
Nr1h4 T C 10: 89,498,405 E41G probably benign Het
Nup98 A T 7: 102,135,001 probably null Het
Nxpe5 A C 5: 138,239,760 Y194S probably damaging Het
Olfr1024 T A 2: 85,904,131 R308* probably null Het
Olfr1032 A T 2: 86,008,219 I148L probably benign Het
Olfr105-ps T C 17: 37,383,299 V244A probably damaging Het
Olfr1121 G T 2: 87,371,690 V53L probably benign Het
Olfr332 A G 11: 58,489,780 I325T probably benign Het
Olfr466 A G 13: 65,153,052 Y276C probably damaging Het
Olfr554 A G 7: 102,640,326 I27V probably benign Het
Omd A T 13: 49,592,269 E385V possibly damaging Het
Pcdh9 G T 14: 93,887,111 T541K probably damaging Het
Pdia6 T C 12: 17,278,545 V167A probably damaging Het
Phf7 C T 14: 31,240,413 R145Q possibly damaging Het
Pitx3 T C 19: 46,137,424 D20G possibly damaging Het
Plxnb1 T C 9: 109,108,168 V1139A probably benign Het
Pon2 A T 6: 5,268,995 N226K probably damaging Het
Ppp1r10 T A 17: 35,930,133 H642Q possibly damaging Het
Prom2 A G 2: 127,539,811 L195P probably damaging Het
Psg23 C T 7: 18,611,983 probably null Het
Rfx4 C A 10: 84,896,012 Q618K probably benign Het
Rhobtb1 T A 10: 69,248,824 I15N probably damaging Het
Rhot2 A T 17: 25,841,609 V233E probably damaging Het
Ripply2 T C 9: 87,019,756 S112P possibly damaging Het
Slc12a1 C A 2: 125,214,132 T861N probably benign Het
Slc35f1 T A 10: 53,089,414 S308R probably damaging Het
Slc35f4 T A 14: 49,298,898 I427F probably damaging Het
Sned1 G A 1: 93,289,358 V1322I probably benign Het
Sprr2f G A 3: 92,365,944 V17M unknown Het
Srd5a3 A G 5: 76,154,643 H285R probably benign Het
Stab1 T C 14: 31,159,259 T605A probably benign Het
Syne1 T C 10: 5,273,718 Q3054R probably damaging Het
Tas1r1 T C 4: 152,038,308 T27A probably benign Het
Tmem150b A T 7: 4,716,210 V237E probably benign Het
Trpv6 C T 6: 41,625,153 M407I probably benign Het
Ttn T G 2: 76,720,354 D31528A probably damaging Het
Uroc1 A T 6: 90,346,362 D354V possibly damaging Het
Vmn2r69 T C 7: 85,411,259 I372M probably benign Het
Vmn2r93 A T 17: 18,326,410 H848L probably benign Het
Zfp971 T A 2: 178,033,174 C189S probably damaging Het
Other mutations in Bpifb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Bpifb5 APN 2 154233249 missense possibly damaging 0.86
IGL01676:Bpifb5 APN 2 154229049 missense possibly damaging 0.71
IGL02065:Bpifb5 APN 2 154227183 missense probably damaging 0.98
IGL02141:Bpifb5 APN 2 154229557 splice site probably null
IGL02244:Bpifb5 APN 2 154225148 missense possibly damaging 0.93
IGL03118:Bpifb5 APN 2 154236753 splice site probably benign
A4554:Bpifb5 UTSW 2 154227180 missense possibly damaging 0.71
R0022:Bpifb5 UTSW 2 154230348 missense probably damaging 0.98
R0492:Bpifb5 UTSW 2 154228900 missense probably benign 0.11
R0654:Bpifb5 UTSW 2 154228900 missense probably benign 0.11
R0692:Bpifb5 UTSW 2 154234696 missense probably benign 0.33
R0707:Bpifb5 UTSW 2 154228900 missense probably benign 0.11
R0898:Bpifb5 UTSW 2 154233334 missense probably benign
R1534:Bpifb5 UTSW 2 154229499 missense possibly damaging 0.86
R1539:Bpifb5 UTSW 2 154223856 missense probably benign
R1874:Bpifb5 UTSW 2 154227202 splice site probably benign
R1971:Bpifb5 UTSW 2 154230344 missense probably benign 0.18
R2001:Bpifb5 UTSW 2 154233279 missense possibly damaging 0.53
R3013:Bpifb5 UTSW 2 154228855 missense possibly damaging 0.59
R3916:Bpifb5 UTSW 2 154228181 missense probably benign
R4499:Bpifb5 UTSW 2 154240758 missense possibly damaging 0.53
R5250:Bpifb5 UTSW 2 154224961 missense probably benign
R6301:Bpifb5 UTSW 2 154230219 missense possibly damaging 0.73
R6836:Bpifb5 UTSW 2 154228065 missense probably benign 0.02
R6869:Bpifb5 UTSW 2 154233223 missense probably benign 0.33
R7014:Bpifb5 UTSW 2 154224956 nonsense probably null
R7300:Bpifb5 UTSW 2 154228146 missense possibly damaging 0.85
R7428:Bpifb5 UTSW 2 154225122 missense probably benign
R7439:Bpifb5 UTSW 2 154228933 missense possibly damaging 0.71
R7448:Bpifb5 UTSW 2 154230185 missense possibly damaging 0.53
T0975:Bpifb5 UTSW 2 154229464 splice site probably null
Predicted Primers PCR Primer
(F):5'- AATGGCTGAATGGACCCTGAG -3'
(R):5'- TAGCCACACAGTAGGAGGAC -3'

Sequencing Primer
(F):5'- TCCCCAGACATCTCAAATCTATTATC -3'
(R):5'- AGGAGGACCTGCTTCGTG -3'
Posted On2019-10-07