Incidental Mutation 'IGL01522:Bpifa3'
ID 89444
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifa3
Ensembl Gene ENSMUSG00000027482
Gene Name BPI fold containing family A, member 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.053) question?
Stock # IGL01522
Quality Score
Status
Chromosome 2
Chromosomal Location 154130336-154138356 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 154137582 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 209 (C209Y)
Ref Sequence ENSEMBL: ENSMUSP00000105368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028984] [ENSMUST00000109746] [ENSMUST00000125753]
AlphaFold Q9D9J8
Predicted Effect probably damaging
Transcript: ENSMUST00000028984
AA Change: C209Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028984
Gene: ENSMUSG00000027482
AA Change: C209Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:LBP_BPI_CETP 47 219 1.2e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000109746
AA Change: C209Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105368
Gene: ENSMUSG00000027482
AA Change: C209Y

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:LBP_BPI_CETP 47 219 1e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125753
SMART Domains Protein: ENSMUSP00000135866
Gene: ENSMUSG00000027482

DomainStartEndE-ValueType
Pfam:LBP_BPI_CETP 1 95 4.1e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik A G 11: 23,582,865 probably null Het
Adamts12 T C 15: 11,065,159 probably null Het
Adamts3 T C 5: 89,702,943 N579S probably benign Het
Akr1c19 A G 13: 4,239,099 probably benign Het
Ankrd39 T A 1: 36,542,061 H69L probably damaging Het
Apcdd1 T A 18: 62,952,115 M461K possibly damaging Het
Cep131 T C 11: 120,067,163 E779G probably benign Het
Cep85 T C 4: 134,152,255 Q394R probably damaging Het
Cep85 G T 4: 134,152,256 Q394K probably damaging Het
Clcn6 T C 4: 148,017,535 Y364C probably benign Het
Fetub G A 16: 22,929,641 M1I probably null Het
Greb1 T C 12: 16,701,201 I1003V probably damaging Het
Hsf3 A G X: 96,320,594 probably benign Het
Jcad A G 18: 4,673,312 N358S probably damaging Het
Kndc1 T C 7: 139,913,972 probably benign Het
Lama1 A T 17: 67,752,774 probably benign Het
Mark2 A G 19: 7,281,238 V50A probably benign Het
Mmp7 T C 9: 7,692,228 W35R probably damaging Het
Ndc80 A G 17: 71,499,325 V578A probably benign Het
Nfyc T C 4: 120,781,524 E42G probably damaging Het
Olfr1164 T C 2: 88,093,016 K307E possibly damaging Het
Olfr1504 A T 19: 13,887,358 L284* probably null Het
Olfr344 A G 2: 36,569,221 T208A probably benign Het
Olfr547 A T 7: 102,535,184 I146F probably damaging Het
Olfr935 A T 9: 38,995,100 C112S probably benign Het
Pcdha11 T C 18: 37,185,008 F925L probably damaging Het
Pdcd1 T G 1: 94,040,846 R154S probably benign Het
Pepd T A 7: 34,924,440 D87E probably benign Het
Pfn4 A G 12: 4,770,240 T30A probably benign Het
Pgpep1l A G 7: 68,237,708 M48T possibly damaging Het
Pla2g15 A G 8: 106,163,116 N340S probably benign Het
Plcb4 A G 2: 136,002,627 D155G probably damaging Het
Plg G A 17: 12,404,069 G499S probably damaging Het
Plin3 C T 17: 56,280,799 W305* probably null Het
Polq C A 16: 37,027,903 L291I probably damaging Het
Sdf2l1 T A 16: 17,132,150 H54L probably damaging Het
Slc38a2 C T 15: 96,693,055 D276N possibly damaging Het
Syk A G 13: 52,643,061 T576A probably benign Het
Tas2r119 G A 15: 32,178,193 V302I probably benign Het
Uso1 T C 5: 92,181,419 F389L probably damaging Het
Wwc2 T A 8: 47,868,633 Y482F unknown Het
Other mutations in Bpifa3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0023:Bpifa3 UTSW 2 154138150 missense probably damaging 0.97
R1067:Bpifa3 UTSW 2 154137609 missense probably damaging 1.00
R4163:Bpifa3 UTSW 2 154135596 missense probably damaging 0.97
R4614:Bpifa3 UTSW 2 154136280 missense probably damaging 0.99
R5124:Bpifa3 UTSW 2 154138137 nonsense probably null
R5704:Bpifa3 UTSW 2 154137642 critical splice donor site probably null
R5706:Bpifa3 UTSW 2 154135578 missense probably damaging 0.98
R5975:Bpifa3 UTSW 2 154136321 missense probably damaging 0.96
R6116:Bpifa3 UTSW 2 154133713 missense possibly damaging 0.90
R6858:Bpifa3 UTSW 2 154137594 missense probably benign 0.12
R8503:Bpifa3 UTSW 2 154130630 missense probably damaging 1.00
R9088:Bpifa3 UTSW 2 154133765 missense possibly damaging 0.64
R9325:Bpifa3 UTSW 2 154133680 missense probably damaging 1.00
Z1176:Bpifa3 UTSW 2 154130471 start gained probably benign
Z1177:Bpifa3 UTSW 2 154136292 missense possibly damaging 0.95
Posted On 2013-12-03