Incidental Mutation 'IGL00264:Bpifc'
ID6097
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifc
Ensembl Gene ENSMUSG00000050108
Gene NameBPI fold containing family C
SynonymsBpil2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.089) question?
Stock #IGL00264
Quality Score
Status
Chromosome10
Chromosomal Location85959340-86011895 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 85960528 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 472 (V472G)
Ref Sequence ENSEMBL: ENSMUSP00000063107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001834] [ENSMUST00000061699]
Predicted Effect probably benign
Transcript: ENSMUST00000001834
SMART Domains Protein: ENSMUSP00000001834
Gene: ENSMUSG00000001783

DomainStartEndE-ValueType
Pfam:RtcB 61 505 3.3e-143 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000061699
AA Change: V472G

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000063107
Gene: ENSMUSG00000050108
AA Change: V472G

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
BPI1 33 257 8.89e-23 SMART
BPI2 272 474 2.29e-25 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139413
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110002H16Rik T C 18: 12,179,219 V172A probably benign Het
Actr3 T G 1: 125,397,229 I319L probably benign Het
Akap7 C T 10: 25,171,240 D20N probably benign Het
Ambra1 T A 2: 91,911,589 S1070T probably benign Het
Arhgef9 T C X: 95,081,631 probably null Het
Ascc3 T G 10: 50,714,435 V1083G probably damaging Het
Asns T A 6: 7,680,179 E312D probably damaging Het
Ccdc71 T A 9: 108,463,038 S17T probably damaging Het
Cebpzos T C 17: 78,918,348 probably benign Het
Cfi T C 3: 129,873,095 I489T probably damaging Het
Chrm2 T A 6: 36,523,391 F61Y probably damaging Het
Cpxm1 T C 2: 130,395,943 Y149C probably damaging Het
Dnah6 A G 6: 73,195,737 I246T probably benign Het
Ereg C A 5: 91,074,779 S7Y probably benign Het
Ghsr T A 3: 27,374,873 L349Q possibly damaging Het
Gm10754 A G 10: 97,682,412 probably benign Het
Gm8237 A T 14: 5,864,475 L29H probably benign Het
Hexim2 A G 11: 103,138,455 E111G probably damaging Het
Itga1 A T 13: 114,992,363 N586K possibly damaging Het
Kat6b A G 14: 21,668,559 D1102G probably benign Het
Kif27 A T 13: 58,337,604 M514K probably benign Het
Matn2 T C 15: 34,428,470 I660T probably damaging Het
Mki67 C A 7: 135,707,820 G301* probably null Het
Olfr1451 A G 19: 12,999,319 Y111C probably damaging Het
Olfr1480 A C 19: 13,529,850 Y103S probably damaging Het
Olfr364-ps1 T C 2: 37,147,067 F285S probably damaging Het
Olfr539 T A 7: 140,667,941 I211N probably benign Het
Pcdhb8 A T 18: 37,355,473 H68L probably benign Het
Pkhd1l1 T C 15: 44,491,029 V272A possibly damaging Het
Pstpip2 T C 18: 77,871,559 probably benign Het
Rdh14 G T 12: 10,391,134 G99W probably damaging Het
Sra1 A T 18: 36,668,739 S99R probably benign Het
Tbrg1 G T 9: 37,651,041 N280K probably benign Het
Ugt8a A G 3: 125,914,636 probably null Het
Usp40 A T 1: 88,004,238 probably benign Het
Vmn1r45 T A 6: 89,933,664 Y108F probably damaging Het
Zfp521 A G 18: 13,846,502 Y285H probably benign Het
Other mutations in Bpifc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01474:Bpifc APN 10 86000639 start codon destroyed probably damaging 0.98
IGL02437:Bpifc APN 10 85988731 missense probably damaging 1.00
R0689:Bpifc UTSW 10 85960547 splice site probably benign
R1205:Bpifc UTSW 10 85981304 missense probably damaging 1.00
R1524:Bpifc UTSW 10 85977735 missense probably benign 0.01
R2033:Bpifc UTSW 10 86000632 missense possibly damaging 0.88
R3103:Bpifc UTSW 10 85993422 missense probably damaging 1.00
R3609:Bpifc UTSW 10 86000638 start codon destroyed probably null 1.00
R3874:Bpifc UTSW 10 85991254 missense probably benign
R4728:Bpifc UTSW 10 85991199 missense possibly damaging 0.50
R5079:Bpifc UTSW 10 85981304 missense probably damaging 1.00
R5193:Bpifc UTSW 10 86000633 missense probably benign 0.01
R6280:Bpifc UTSW 10 85977712 missense probably benign 0.02
R6291:Bpifc UTSW 10 85976258 missense probably damaging 1.00
R6945:Bpifc UTSW 10 85979214 missense probably benign 0.00
R7288:Bpifc UTSW 10 85988721 missense possibly damaging 0.95
R7310:Bpifc UTSW 10 85963027 missense probably damaging 1.00
R7463:Bpifc UTSW 10 85979334 missense probably benign 0.00
R7807:Bpifc UTSW 10 85976250 missense possibly damaging 0.80
R8004:Bpifc UTSW 10 85979284 missense probably benign
Z1176:Bpifc UTSW 10 85965228 missense probably benign 0.01
Posted On2012-04-20