Incidental Mutation 'IGL02246:Bpifa6'
ID286180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifa6
Ensembl Gene ENSMUSG00000078998
Gene NameBPI fold containing family A, member 6
SynonymsGm5840
Accession Numbers

Genbank: NM_001080811MGI: 3647736  

Is this an essential gene? Probably non essential (E-score: 0.084) question?
Stock #IGL02246
Quality Score
Status
Chromosome2
Chromosomal Location153974945-154000495 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 153989276 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Valine at position 254 (E254V)
Ref Sequence ENSEMBL: ENSMUSP00000105375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109753]
Predicted Effect probably damaging
Transcript: ENSMUST00000109753
AA Change: E254V

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: E254V

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
Pfam:LBP_BPI_CETP 176 319 1.4e-9 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik G T 4: 123,860,862 D190Y probably damaging Het
Acat1 G A 9: 53,584,866 L324F probably benign Het
Ago2 T C 15: 73,108,418 H743R probably damaging Het
Ahnak A T 19: 9,008,268 L2305F probably damaging Het
Ankhd1 T A 18: 36,656,726 H2438Q probably damaging Het
Atm G T 9: 53,527,185 Q162K probably benign Het
Carns1 T A 19: 4,166,432 N584Y possibly damaging Het
Cmklr1 T C 5: 113,614,400 N180S probably benign Het
Col6a5 G A 9: 105,911,107 R1565* probably null Het
Fbxo43 T A 15: 36,162,696 I122L probably benign Het
Fibp A G 19: 5,463,236 Y193C probably damaging Het
Gm10923 A G 15: 85,116,931 probably benign Het
Il12rb2 A G 6: 67,308,956 probably null Het
Jakmip2 T C 18: 43,567,158 E445G possibly damaging Het
Krcc1 G A 6: 71,284,421 D146N probably benign Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Map2k5 A T 9: 63,377,129 D43E probably benign Het
Nup155 A G 15: 8,143,002 K824R probably benign Het
Olfr1394 T C 11: 49,160,094 S27P probably benign Het
Olfr577 T C 7: 102,973,744 T83A possibly damaging Het
Phkg1 G A 5: 129,864,638 R324W probably damaging Het
Plcd1 G A 9: 119,072,609 L616F probably benign Het
Rnf141 A T 7: 110,825,287 S122T probably benign Het
Tap1 G A 17: 34,193,989 V593M probably benign Het
Ticrr T C 7: 79,675,328 L534P probably damaging Het
Ubr4 G T 4: 139,459,103 E640D possibly damaging Het
Vmn1r169 A C 7: 23,577,236 I18L probably benign Het
Other mutations in Bpifa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00910:Bpifa6 APN 2 153990466 missense probably benign 0.00
IGL01805:Bpifa6 APN 2 153984912 missense probably benign 0.03
IGL02275:Bpifa6 APN 2 153992272 missense probably benign 0.40
IGL02405:Bpifa6 APN 2 153990862 nonsense probably null
IGL02587:Bpifa6 APN 2 153989210 missense probably damaging 0.99
IGL03365:Bpifa6 APN 2 153989284 missense possibly damaging 0.71
F6893:Bpifa6 UTSW 2 153987158 missense probably damaging 1.00
FR4976:Bpifa6 UTSW 2 153986376 missense probably benign
FR4976:Bpifa6 UTSW 2 153986398 missense probably benign
R0131:Bpifa6 UTSW 2 153982931 missense probably benign 0.11
R0131:Bpifa6 UTSW 2 153982931 missense probably benign 0.11
R0132:Bpifa6 UTSW 2 153982931 missense probably benign 0.11
R0799:Bpifa6 UTSW 2 153992272 missense probably benign 0.40
R1468:Bpifa6 UTSW 2 153989272 missense probably benign 0.01
R1468:Bpifa6 UTSW 2 153989272 missense probably benign 0.01
R1767:Bpifa6 UTSW 2 153987227 missense possibly damaging 0.95
R2255:Bpifa6 UTSW 2 153990895 missense probably damaging 0.98
R2857:Bpifa6 UTSW 2 153989274 missense probably benign 0.03
R3430:Bpifa6 UTSW 2 153989251 missense probably benign 0.00
R4616:Bpifa6 UTSW 2 153982988 missense possibly damaging 0.47
R5420:Bpifa6 UTSW 2 153989330 missense probably damaging 0.98
R6224:Bpifa6 UTSW 2 153987153 missense probably damaging 0.99
R6483:Bpifa6 UTSW 2 153990434 missense probably benign 0.13
R6552:Bpifa6 UTSW 2 153987158 missense probably damaging 0.99
R7061:Bpifa6 UTSW 2 153992316 missense probably benign 0.00
R7378:Bpifa6 UTSW 2 153986433 missense probably damaging 0.99
R7472:Bpifa6 UTSW 2 153989329 missense possibly damaging 0.93
R8313:Bpifa6 UTSW 2 153989258 nonsense probably null
Posted On2015-04-16