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 067925-MU
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 154099799-154113165 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 154111399 bp (GRCm39)
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: 155,398,381 (GRCm39) Y380* probably null Het
Apob T A 12: 8,044,807 (GRCm39) probably null Het
Aste1 G A 9: 105,274,189 (GRCm39) R143Q possibly damaging Het
BC024139 T C 15: 76,004,882 (GRCm39) D598G probably damaging Het
Ccdc88b A T 19: 6,831,900 (GRCm39) L427Q probably damaging Het
Cept1 A G 3: 106,412,569 (GRCm39) V301A probably benign Het
Chuk G T 19: 44,084,678 (GRCm39) H306Q probably benign Het
Cryzl1 C A 16: 91,504,161 (GRCm39) E69* probably null Het
Cul5 A T 9: 53,558,123 (GRCm39) D160E probably benign Het
Dlec1 G A 9: 118,972,335 (GRCm39) probably null Het
Dnah12 A G 14: 26,575,753 (GRCm39) M2954V probably benign Het
Dnah5 T A 15: 28,419,941 (GRCm39) D3746E probably benign Het
Dnm1 A G 2: 32,230,490 (GRCm39) V108A probably benign Het
Dpp9 C A 17: 56,501,467 (GRCm39) D582Y possibly damaging Het
Evi2 T A 11: 79,406,288 (GRCm39) probably benign Het
Got2 T A 8: 96,615,152 (GRCm39) probably benign Het
Gria2 A T 3: 80,708,998 (GRCm39) H61Q possibly damaging Het
Hnrnpa2b1 C T 6: 51,444,391 (GRCm39) V8I probably benign Het
Impg2 A G 16: 56,072,629 (GRCm39) I354V possibly damaging Het
Letm2 T C 8: 26,070,375 (GRCm39) K421R possibly damaging Het
Lrp1 T C 10: 127,404,779 (GRCm39) D1974G probably damaging Het
Magi2 A T 5: 20,594,152 (GRCm39) E5D possibly damaging Het
Mprip T A 11: 59,648,982 (GRCm39) Y895* probably null Het
Myo5c T C 9: 75,208,726 (GRCm39) F1679S probably damaging Het
Neb T C 2: 52,114,597 (GRCm39) K4221E probably damaging Het
Nek4 A G 14: 30,685,991 (GRCm39) Y308C probably damaging Het
Nrsn1 T C 13: 25,437,598 (GRCm39) N110S probably damaging Het
Or11a4 T A 17: 37,536,295 (GRCm39) I93K probably damaging Het
Or4k40 T A 2: 111,250,994 (GRCm39) I101F possibly damaging Het
Padi2 A G 4: 140,660,564 (GRCm39) Q348R probably benign Het
Pdgfrb C T 18: 61,198,814 (GRCm39) T324I probably benign Het
Pon3 C T 6: 5,221,715 (GRCm39) R305H probably benign Het
Prlhr A G 19: 60,456,125 (GRCm39) V147A possibly damaging Het
Ptpn21 T C 12: 98,655,153 (GRCm39) T605A probably benign Het
Rabep1 T C 11: 70,777,953 (GRCm39) S162P probably damaging Het
Rgs7bp A G 13: 105,190,716 (GRCm39) S3P probably damaging Het
Sec24d T A 3: 123,147,073 (GRCm39) L677H probably damaging Het
Slc13a3 T C 2: 165,275,958 (GRCm39) R263G probably damaging Het
Slu7 C A 11: 43,328,320 (GRCm39) L45M probably damaging Het
Slu7 T A 11: 43,328,321 (GRCm39) L45Q probably damaging Het
Sp140 A G 1: 85,569,512 (GRCm39) D374G probably damaging Het
Sppl2b TGTCACAGGT TGT 10: 80,701,903 (GRCm39) probably null Het
Tex36 A T 7: 133,189,189 (GRCm39) S128T probably damaging Het
Tpbg T C 9: 85,726,138 (GRCm39) S36P unknown Het
Tubgcp2 C A 7: 139,613,588 (GRCm39) D30Y probably damaging Het
Vmn1r19 T C 6: 57,381,932 (GRCm39) S162P probably damaging Het
Other mutations in Bpifb9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Bpifb9a APN 2 154,106,195 (GRCm39) nonsense probably null
IGL00899:Bpifb9a APN 2 154,106,647 (GRCm39) splice site probably null
IGL01998:Bpifb9a APN 2 154,110,120 (GRCm39) critical splice donor site probably null
IGL02158:Bpifb9a APN 2 154,108,733 (GRCm39) splice site probably benign
IGL02331:Bpifb9a APN 2 154,104,307 (GRCm39) missense possibly damaging 0.45
R0066:Bpifb9a UTSW 2 154,108,761 (GRCm39) missense possibly damaging 0.95
R0480:Bpifb9a UTSW 2 154,106,608 (GRCm39) missense probably benign 0.33
R0545:Bpifb9a UTSW 2 154,103,870 (GRCm39) nonsense probably null
R0904:Bpifb9a UTSW 2 154,106,145 (GRCm39) splice site probably benign
R1028:Bpifb9a UTSW 2 154,104,327 (GRCm39) missense possibly damaging 0.45
R1158:Bpifb9a UTSW 2 154,104,184 (GRCm39) missense probably benign 0.08
R1465:Bpifb9a UTSW 2 154,112,941 (GRCm39) missense possibly damaging 0.85
R1465:Bpifb9a UTSW 2 154,112,941 (GRCm39) missense possibly damaging 0.85
R1902:Bpifb9a UTSW 2 154,103,911 (GRCm39) missense probably benign 0.00
R2015:Bpifb9a UTSW 2 154,110,120 (GRCm39) critical splice donor site probably null
R2152:Bpifb9a UTSW 2 154,102,055 (GRCm39) missense probably benign 0.28
R2206:Bpifb9a UTSW 2 154,106,161 (GRCm39) splice site probably null
R5410:Bpifb9a UTSW 2 154,112,155 (GRCm39) missense probably benign 0.05
R5731:Bpifb9a UTSW 2 154,104,163 (GRCm39) missense possibly damaging 0.87
R5818:Bpifb9a UTSW 2 154,104,215 (GRCm39) missense probably damaging 0.98
R5865:Bpifb9a UTSW 2 154,108,756 (GRCm39) missense probably benign 0.26
R6564:Bpifb9a UTSW 2 154,102,098 (GRCm39) missense probably benign 0.00
R7291:Bpifb9a UTSW 2 154,109,616 (GRCm39) missense probably damaging 1.00
R7294:Bpifb9a UTSW 2 154,109,616 (GRCm39) missense probably damaging 1.00
R7295:Bpifb9a UTSW 2 154,109,616 (GRCm39) missense probably damaging 1.00
R7453:Bpifb9a UTSW 2 154,106,615 (GRCm39) missense probably damaging 0.99
R7570:Bpifb9a UTSW 2 154,104,183 (GRCm39) missense possibly damaging 0.46
R8187:Bpifb9a UTSW 2 154,111,377 (GRCm39) missense probably benign 0.00
R8245:Bpifb9a UTSW 2 154,104,646 (GRCm39) missense probably benign 0.00
R8459:Bpifb9a UTSW 2 154,102,153 (GRCm39) missense probably damaging 0.98
Predicted Primers
Posted On 2021-01-18