Incidental Mutation 'R8481:Bpifb9a'
ID 657512
Institutional Source Beutler Lab
Gene Symbol Bpifb9a
Ensembl Gene ENSMUSG00000067998
Gene Name BPI fold containing family B, member 9A
Synonyms 4833413D08Rik, vomeromodulin
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8481 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 154257854-154271245 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154269479 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 551 (V551A)
Ref Sequence ENSEMBL: ENSMUSP00000086314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088924]
AlphaFold Q80XI7
Predicted Effect probably benign
Transcript: ENSMUST00000088924
AA Change: V551A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: V551A

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
low complexity region 122 157 N/A INTRINSIC
low complexity region 167 181 N/A INTRINSIC
low complexity region 184 203 N/A INTRINSIC
Pfam:LBP_BPI_CETP 216 377 1.1e-11 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (45/46)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acss2 T A 2: 155,556,461 Y380* probably null Het
Apob T A 12: 7,994,807 probably null Het
Aste1 G A 9: 105,396,990 R143Q possibly damaging Het
BC024139 T C 15: 76,120,682 D598G probably damaging Het
Ccdc88b A T 19: 6,854,532 L427Q probably damaging Het
Cept1 A G 3: 106,505,253 V301A probably benign Het
Chuk G T 19: 44,096,239 H306Q probably benign Het
Cryzl1 C A 16: 91,707,273 E69* probably null Het
Cul5 A T 9: 53,646,823 D160E probably benign Het
Dlec1 G A 9: 119,143,267 probably null Het
Dnah12 A G 14: 26,853,796 M2954V probably benign Het
Dnah5 T A 15: 28,419,795 D3746E probably benign Het
Dnm1 A G 2: 32,340,478 V108A probably benign Het
Dpp9 C A 17: 56,194,467 D582Y possibly damaging Het
Evi2 T A 11: 79,515,462 probably benign Het
Got2 T A 8: 95,888,524 probably benign Het
Gria2 A T 3: 80,801,691 H61Q possibly damaging Het
Hnrnpa2b1 C T 6: 51,467,411 V8I probably benign Het
Impg2 A G 16: 56,252,266 I354V possibly damaging Het
Letm2 T C 8: 25,580,359 K421R possibly damaging Het
Lrp1 T C 10: 127,568,910 D1974G probably damaging Het
Magi2 A T 5: 20,389,154 E5D possibly damaging Het
Mprip T A 11: 59,758,156 Y895* probably null Het
Myo5c T C 9: 75,301,444 F1679S probably damaging Het
Neb T C 2: 52,224,585 K4221E probably damaging Het
Nek4 A G 14: 30,964,034 Y308C probably damaging Het
Nrsn1 T C 13: 25,253,615 N110S probably damaging Het
Olfr1286 T A 2: 111,420,649 I101F possibly damaging Het
Olfr96 T A 17: 37,225,404 I93K probably damaging Het
Padi2 A G 4: 140,933,253 Q348R probably benign Het
Pdgfrb C T 18: 61,065,742 T324I probably benign Het
Pon3 C T 6: 5,221,715 R305H probably benign Het
Prlhr A G 19: 60,467,687 V147A possibly damaging Het
Ptpn21 T C 12: 98,688,894 T605A probably benign Het
Rabep1 T C 11: 70,887,127 S162P probably damaging Het
Rgs7bp A G 13: 105,054,208 S3P probably damaging Het
Sec24d T A 3: 123,353,424 L677H probably damaging Het
Slc13a3 T C 2: 165,434,038 R263G probably damaging Het
Slu7 C A 11: 43,437,493 L45M probably damaging Het
Slu7 T A 11: 43,437,494 L45Q probably damaging Het
Sp140 A G 1: 85,641,791 D374G probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,866,069 probably null Het
Tex36 A T 7: 133,587,460 S128T probably damaging Het
Tpbg T C 9: 85,844,085 S36P unknown Het
Tubgcp2 C A 7: 140,033,675 D30Y probably damaging Het
Vmn1r19 T C 6: 57,404,947 S162P probably damaging Het
Other mutations in Bpifb9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Bpifb9a APN 2 154264275 nonsense probably null
IGL00899:Bpifb9a APN 2 154264727 splice site probably null
IGL01998:Bpifb9a APN 2 154268200 critical splice donor site probably null
IGL02158:Bpifb9a APN 2 154266813 splice site probably benign
IGL02331:Bpifb9a APN 2 154262387 missense possibly damaging 0.45
R0066:Bpifb9a UTSW 2 154266841 missense possibly damaging 0.95
R0480:Bpifb9a UTSW 2 154264688 missense probably benign 0.33
R0545:Bpifb9a UTSW 2 154261950 nonsense probably null
R0904:Bpifb9a UTSW 2 154264225 splice site probably benign
R1028:Bpifb9a UTSW 2 154262407 missense possibly damaging 0.45
R1158:Bpifb9a UTSW 2 154262264 missense probably benign 0.08
R1465:Bpifb9a UTSW 2 154271021 missense possibly damaging 0.85
R1465:Bpifb9a UTSW 2 154271021 missense possibly damaging 0.85
R1902:Bpifb9a UTSW 2 154261991 missense probably benign 0.00
R2015:Bpifb9a UTSW 2 154268200 critical splice donor site probably null
R2152:Bpifb9a UTSW 2 154260135 missense probably benign 0.28
R2206:Bpifb9a UTSW 2 154264241 splice site probably null
R5410:Bpifb9a UTSW 2 154270235 missense probably benign 0.05
R5731:Bpifb9a UTSW 2 154262243 missense possibly damaging 0.87
R5818:Bpifb9a UTSW 2 154262295 missense probably damaging 0.98
R5865:Bpifb9a UTSW 2 154266836 missense probably benign 0.26
R6564:Bpifb9a UTSW 2 154260178 missense probably benign 0.00
R7291:Bpifb9a UTSW 2 154267696 missense probably damaging 1.00
R7294:Bpifb9a UTSW 2 154267696 missense probably damaging 1.00
R7295:Bpifb9a UTSW 2 154267696 missense probably damaging 1.00
R7453:Bpifb9a UTSW 2 154264695 missense probably damaging 0.99
R7570:Bpifb9a UTSW 2 154262263 missense possibly damaging 0.46
R8187:Bpifb9a UTSW 2 154269457 missense probably benign 0.00
R8245:Bpifb9a UTSW 2 154262726 missense probably benign 0.00
R8459:Bpifb9a UTSW 2 154260233 missense probably damaging 0.98
Predicted Primers
Posted On 2021-01-18