Incidental Mutation 'IGL02331:Bpifb9a'
ID 288677
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb9a
Ensembl Gene ENSMUSG00000067998
Gene Name BPI fold containing family B, member 9A
Synonyms 4833413D08Rik, vomeromodulin
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02331
Quality Score
Status
Chromosome 2
Chromosomal Location 154257854-154271245 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 154262387 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 250 (D250G)
Ref Sequence ENSEMBL: ENSMUSP00000086314 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088924]
AlphaFold Q80XI7
Predicted Effect possibly damaging
Transcript: ENSMUST00000088924
AA Change: D250G

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086314
Gene: ENSMUSG00000067998
AA Change: D250G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147299
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 (GRCm38) F241L possibly damaging Het
Alx1 A G 10: 103,022,299 (GRCm38) F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 (GRCm38) D428G probably damaging Het
Arap2 G T 5: 62,649,682 (GRCm38) probably benign Het
Arnt2 A G 7: 84,265,624 (GRCm38) Y511H probably damaging Het
Bmp7 A T 2: 172,872,931 (GRCm38) C362S probably damaging Het
Ccnk T A 12: 108,189,084 (GRCm38) L100H probably damaging Het
Cdh23 T C 10: 60,465,543 (GRCm38) I451V probably damaging Het
Cemip A G 7: 83,963,984 (GRCm38) probably null Het
Cep78 T A 19: 15,974,415 (GRCm38) Q342L probably benign Het
Clca3b T C 3: 144,841,406 (GRCm38) probably benign Het
Cpb2 A G 14: 75,283,404 (GRCm38) R420G possibly damaging Het
Cyp2c50 A T 19: 40,090,943 (GRCm38) probably null Het
Dbnl T C 11: 5,799,997 (GRCm38) *433R probably null Het
Elovl5 T C 9: 77,979,899 (GRCm38) S191P possibly damaging Het
Fbxo42 A G 4: 141,167,846 (GRCm38) E40G probably benign Het
Fpgt T C 3: 155,087,862 (GRCm38) D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 (GRCm38) probably null Het
Grik4 A T 9: 42,541,988 (GRCm38) S700R probably damaging Het
Herc4 T C 10: 63,264,160 (GRCm38) S121P probably benign Het
Hps4 T C 5: 112,369,536 (GRCm38) V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 (GRCm38) L81R probably damaging Het
Ift122 T C 6: 115,887,324 (GRCm38) M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 (GRCm38) V202L probably damaging Het
Klf3 A G 5: 64,829,072 (GRCm38) K111E probably damaging Het
Kxd1 T C 8: 70,515,440 (GRCm38) T128A probably benign Het
Lgals7 A G 7: 28,865,718 (GRCm38) T94A probably benign Het
Lrp5 T C 19: 3,591,816 (GRCm38) H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 (GRCm38) T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 (GRCm38) R419W probably damaging Het
Myo5b A T 18: 74,638,040 (GRCm38) probably null Het
Myo7a A G 7: 98,053,182 (GRCm38) V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 (GRCm38) K620N probably benign Het
Ntrk2 T C 13: 58,846,856 (GRCm38) probably null Het
Olfr935 A G 9: 38,995,106 (GRCm38) S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 (GRCm38) V105A probably benign Het
Pfkp A C 13: 6,597,960 (GRCm38) F527V probably benign Het
Pilra C A 5: 137,835,655 (GRCm38) G47* probably null Het
Pkdrej C A 15: 85,821,327 (GRCm38) C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 (GRCm38) M36K probably benign Het
Rita1 C T 5: 120,609,793 (GRCm38) A147T probably damaging Het
Rnf40 T C 7: 127,589,827 (GRCm38) V124A probably benign Het
St7l A G 3: 104,926,588 (GRCm38) T522A probably damaging Het
Stox2 G A 8: 47,191,944 (GRCm38) P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 (GRCm38) S115P probably damaging Het
Trpm1 A G 7: 64,235,052 (GRCm38) D827G probably benign Het
Ttll6 T A 11: 96,135,747 (GRCm38) M119K probably damaging Het
Ufl1 C A 4: 25,251,971 (GRCm38) C568F probably damaging Het
Usp29 A T 7: 6,962,156 (GRCm38) I333F probably benign Het
Vta1 G A 10: 14,705,394 (GRCm38) T23M probably damaging Het
Zswim8 A G 14: 20,723,257 (GRCm38) D1771G probably damaging Het
Other mutations in Bpifb9a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00833:Bpifb9a APN 2 154,264,275 (GRCm38) nonsense probably null
IGL00899:Bpifb9a APN 2 154,264,727 (GRCm38) splice site probably null
IGL01998:Bpifb9a APN 2 154,268,200 (GRCm38) critical splice donor site probably null
IGL02158:Bpifb9a APN 2 154,266,813 (GRCm38) splice site probably benign
R0066:Bpifb9a UTSW 2 154,266,841 (GRCm38) missense possibly damaging 0.95
R0480:Bpifb9a UTSW 2 154,264,688 (GRCm38) missense probably benign 0.33
R0545:Bpifb9a UTSW 2 154,261,950 (GRCm38) nonsense probably null
R0904:Bpifb9a UTSW 2 154,264,225 (GRCm38) splice site probably benign
R1028:Bpifb9a UTSW 2 154,262,407 (GRCm38) missense possibly damaging 0.45
R1158:Bpifb9a UTSW 2 154,262,264 (GRCm38) missense probably benign 0.08
R1465:Bpifb9a UTSW 2 154,271,021 (GRCm38) missense possibly damaging 0.85
R1465:Bpifb9a UTSW 2 154,271,021 (GRCm38) missense possibly damaging 0.85
R1902:Bpifb9a UTSW 2 154,261,991 (GRCm38) missense probably benign 0.00
R2015:Bpifb9a UTSW 2 154,268,200 (GRCm38) critical splice donor site probably null
R2152:Bpifb9a UTSW 2 154,260,135 (GRCm38) missense probably benign 0.28
R2206:Bpifb9a UTSW 2 154,264,241 (GRCm38) splice site probably null
R5410:Bpifb9a UTSW 2 154,270,235 (GRCm38) missense probably benign 0.05
R5731:Bpifb9a UTSW 2 154,262,243 (GRCm38) missense possibly damaging 0.87
R5818:Bpifb9a UTSW 2 154,262,295 (GRCm38) missense probably damaging 0.98
R5865:Bpifb9a UTSW 2 154,266,836 (GRCm38) missense probably benign 0.26
R6564:Bpifb9a UTSW 2 154,260,178 (GRCm38) missense probably benign 0.00
R7291:Bpifb9a UTSW 2 154,267,696 (GRCm38) missense probably damaging 1.00
R7294:Bpifb9a UTSW 2 154,267,696 (GRCm38) missense probably damaging 1.00
R7295:Bpifb9a UTSW 2 154,267,696 (GRCm38) missense probably damaging 1.00
R7453:Bpifb9a UTSW 2 154,264,695 (GRCm38) missense probably damaging 0.99
R7570:Bpifb9a UTSW 2 154,262,263 (GRCm38) missense possibly damaging 0.46
R8187:Bpifb9a UTSW 2 154,269,457 (GRCm38) missense probably benign 0.00
R8245:Bpifb9a UTSW 2 154,262,726 (GRCm38) missense probably benign 0.00
R8459:Bpifb9a UTSW 2 154,260,233 (GRCm38) missense probably damaging 0.98
R8481:Bpifb9a UTSW 2 154,269,479 (GRCm38) missense probably benign
Posted On 2015-04-16