Incidental Mutation 'IGL00910:Bpifa6'
ID26852
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 #IGL00910
Quality Score
Status
Chromosome2
Chromosomal Location153974945-154000495 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 153990466 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 298 (M298L)
Ref Sequence ENSEMBL: ENSMUSP00000105375 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109753]
Predicted Effect probably benign
Transcript: ENSMUST00000109753
AA Change: M298L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000105375
Gene: ENSMUSG00000078998
AA Change: M298L

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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik A G 15: 84,955,819 L109P probably damaging Het
Aacs T A 5: 125,508,708 M316K probably benign Het
Adarb2 T C 13: 8,672,433 V375A probably damaging Het
Adgra2 C A 8: 27,085,983 A13E possibly damaging Het
Ankrd34c A T 9: 89,729,026 S421T probably benign Het
Casq2 T C 3: 102,110,231 probably benign Het
Ckap5 A G 2: 91,576,050 T762A probably benign Het
Dhx38 A G 8: 109,559,034 V389A probably benign Het
Dnah7b A T 1: 46,066,729 probably benign Het
Dnajc7 A T 11: 100,599,191 F79L possibly damaging Het
Dyrk3 A G 1: 131,136,336 I3T possibly damaging Het
Fam84a T C 12: 14,150,526 S67G probably benign Het
Fchsd2 T C 7: 101,277,626 I641T probably benign Het
Furin A G 7: 80,390,996 V698A probably benign Het
Prl2c5 G A 13: 13,189,476 probably null Het
Ryr3 A T 2: 112,728,934 probably benign Het
Serpina6 G T 12: 103,651,965 probably benign Het
Slc6a2 A G 8: 92,996,100 Y575C probably damaging Het
Trim9 T C 12: 70,347,113 E19G probably damaging Het
Tsfm G T 10: 127,028,359 probably benign Het
Other mutations in Bpifa6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01805:Bpifa6 APN 2 153984912 missense probably benign 0.03
IGL02246:Bpifa6 APN 2 153989276 missense probably damaging 0.98
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 On2013-04-17