Incidental Mutation 'IGL00786:Bpifa5'
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ID13327
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifa5
Ensembl Gene ENSMUSG00000027484
Gene NameBPI fold containing family A, member 5
Synonyms2310074B19Rik, 2310021H06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL00786
Quality Score
Status
Chromosome2
Chromosomal Location154162607-154168450 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 154167252 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 238 (C238Y)
Ref Sequence ENSEMBL: ENSMUSP00000028986 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028986]
Predicted Effect probably damaging
Transcript: ENSMUST00000028986
AA Change: C238Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028986
Gene: ENSMUSG00000027484
AA Change: C238Y

DomainStartEndE-ValueType
Pfam:LBP_BPI_CETP 76 248 5.6e-38 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402F06Rik T C 2: 35,375,839 N242S probably benign Het
Akap9 C A 5: 4,070,522 A3646E probably damaging Het
Akt1 C A 12: 112,657,671 G233V probably damaging Het
B3gat3 A G 19: 8,926,785 E320G probably benign Het
Camkmt T C 17: 85,096,491 V47A probably damaging Het
Ccnl2 C T 4: 155,820,880 R284W probably damaging Het
Chl1 G T 6: 103,675,145 V341F probably damaging Het
Cst3 A T 2: 148,872,877 C93* probably null Het
Ctsh T C 9: 90,064,238 V119A probably damaging Het
Dmap1 C T 4: 117,676,396 R225Q possibly damaging Het
Ehbp1 A G 11: 22,100,460 S479P possibly damaging Het
Eml2 A G 7: 19,202,582 Y528C probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
G6pc3 A G 11: 102,193,105 M186V probably benign Het
Gpr37 A G 6: 25,669,318 V509A possibly damaging Het
Heatr5b G T 17: 78,824,634 H347N possibly damaging Het
Idh1 A G 1: 65,166,243 S188P probably damaging Het
Mphosph8 T C 14: 56,672,544 V118A probably benign Het
Mthfsd C T 8: 121,104,468 R91Q probably damaging Het
Otor G A 2: 143,079,926 V86I probably damaging Het
Pdk2 T A 11: 95,031,935 T140S probably benign Het
Pnliprp2 A G 19: 58,760,497 N78S probably benign Het
Rimbp3 C T 16: 17,211,688 T992M probably damaging Het
Sdad1 A T 5: 92,303,773 probably null Het
Sidt2 A G 9: 45,949,803 S71P possibly damaging Het
Slc44a2 T A 9: 21,345,935 V390E probably damaging Het
Tmem168 T C 6: 13,602,675 I231V probably benign Het
Uhrf1bp1 T A 17: 27,879,292 I136N probably damaging Het
Vim T C 2: 13,578,510 probably null Het
Other mutations in Bpifa5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0498:Bpifa5 UTSW 2 154167249 missense probably damaging 1.00
R0501:Bpifa5 UTSW 2 154163696 missense probably benign 0.00
R0521:Bpifa5 UTSW 2 154166949 missense probably benign 0.42
R0601:Bpifa5 UTSW 2 154164255 missense possibly damaging 0.80
R0792:Bpifa5 UTSW 2 154165619 critical splice donor site probably null
R1695:Bpifa5 UTSW 2 154167660 missense probably damaging 1.00
R5072:Bpifa5 UTSW 2 154165972 missense probably damaging 1.00
R5810:Bpifa5 UTSW 2 154163718 splice site probably null
R5837:Bpifa5 UTSW 2 154163678 missense probably damaging 0.98
R6253:Bpifa5 UTSW 2 154163500 start codon destroyed probably null 1.00
R7213:Bpifa5 UTSW 2 154165983 missense possibly damaging 0.69
R7686:Bpifa5 UTSW 2 154165512 missense probably benign 0.02
R7905:Bpifa5 UTSW 2 154165588 missense probably damaging 1.00
R8437:Bpifa5 UTSW 2 154165606 missense probably damaging 1.00
Posted On2012-12-06