Incidental Mutation 'IGL02244:Bpifb5'
ID286108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb5
Ensembl Gene ENSMUSG00000038572
Gene NameBPI fold containing family B, member 5
SynonymsBC018465
Accession Numbers

Genbank: NM_144890; MGI: 2385160

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02244
Quality Score
Status
Chromosome2
Chromosomal Location154223742-154240902 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 154225148 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 107 (T107I)
Ref Sequence ENSEMBL: ENSMUSP00000046683 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028987] [ENSMUST00000045959] [ENSMUST00000081816]
Predicted Effect probably benign
Transcript: ENSMUST00000028987
SMART Domains Protein: ENSMUSP00000028987
Gene: ENSMUSG00000027485

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000045959
AA Change: T107I

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046683
Gene: ENSMUSG00000038572
AA Change: T107I

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
coiled coil region 26 54 N/A INTRINSIC
Pfam:LBP_BPI_CETP 94 231 7.6e-14 PFAM
Blast:BPI2 291 488 4e-91 BLAST
SCOP:d1ewfa2 433 486 8e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000081816
SMART Domains Protein: ENSMUSP00000080501
Gene: ENSMUSG00000027485

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
BPI1 36 256 3.3e-40 SMART
Pfam:LBP_BPI_CETP_C 331 470 1.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123017
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G T 16: 91,056,197 T17K probably benign Het
Agbl1 T C 7: 76,766,372 S714P probably damaging Het
Araf A G X: 20,853,596 probably benign Het
Armc3 G A 2: 19,286,137 probably null Het
Armc8 A T 9: 99,483,174 D638E probably benign Het
Ces1e A C 8: 93,212,349 probably null Het
Col4a3 C A 1: 82,669,771 probably benign Het
Col4a5 A G X: 141,599,673 probably benign Het
Crocc T C 4: 141,037,920 H477R probably benign Het
Dgkd C A 1: 87,915,141 N130K probably benign Het
Dock1 C T 7: 134,777,445 Q634* probably null Het
Dzip3 C T 16: 48,980,988 V58I probably benign Het
Fndc3a A G 14: 72,556,367 probably benign Het
Glp2r C T 11: 67,721,991 R379H probably damaging Het
Kctd12b T A X: 153,689,334 M120L probably benign Het
Krt33b A G 11: 100,025,363 V258A probably benign Het
Lpin1 T A 12: 16,541,769 N819I probably damaging Het
Lurap1l T C 4: 80,953,629 S120P probably damaging Het
Lysmd4 T C 7: 67,225,924 S112P probably damaging Het
Myo1e A G 9: 70,367,689 K708R probably benign Het
Nr3c1 T A 18: 39,421,557 probably benign Het
Nup62cl G T X: 140,022,031 N239K probably benign Het
Nwd1 A T 8: 72,707,582 E1269V probably damaging Het
Olfr676 C T 7: 105,035,945 T249M probably damaging Het
Pcdh9 A C 14: 93,326,768 L1084R probably damaging Het
Plxnd1 A G 6: 115,978,257 M543T probably benign Het
Prss53 T A 7: 127,888,792 T173S possibly damaging Het
Reep2 C A 18: 34,840,754 probably benign Het
Rp1 T C 1: 4,348,780 D703G probably benign Het
Sbf2 T G 7: 110,560,295 D36A probably damaging Het
Sh3kbp1 C T X: 159,803,728 R99W probably damaging Het
Sis T A 3: 72,956,190 R238S probably benign Het
Slc35e2 T A 4: 155,618,562 V344D probably damaging Het
Specc1 G A 11: 62,128,368 V678I probably benign Het
Supt6 T C 11: 78,232,797 D49G possibly damaging Het
Tecpr1 G A 5: 144,210,003 A515V probably benign Het
Tlr4 G A 4: 66,834,061 probably null Het
Tmco5b A G 2: 113,288,274 E114G probably damaging Het
Tspear A T 10: 77,852,856 probably benign Het
Txlnb T A 10: 17,843,368 V649E probably benign Het
Utp20 A G 10: 88,815,956 probably benign Het
Virma G A 4: 11,546,031 R1673Q probably damaging Het
Vmn2r70 T A 7: 85,565,003 T314S probably benign Het
Zfp938 G T 10: 82,226,072 T238K possibly damaging Het
Other mutations in Bpifb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Bpifb5 APN 2 154233249 missense possibly damaging 0.86
IGL01676:Bpifb5 APN 2 154229049 missense possibly damaging 0.71
IGL02065:Bpifb5 APN 2 154227183 missense probably damaging 0.98
IGL02141:Bpifb5 APN 2 154229557 splice site probably null
IGL03118:Bpifb5 APN 2 154236753 splice site probably benign
A4554:Bpifb5 UTSW 2 154227180 missense possibly damaging 0.71
R0022:Bpifb5 UTSW 2 154230348 missense probably damaging 0.98
R0492:Bpifb5 UTSW 2 154228900 missense probably benign 0.11
R0654:Bpifb5 UTSW 2 154228900 missense probably benign 0.11
R0692:Bpifb5 UTSW 2 154234696 missense probably benign 0.33
R0707:Bpifb5 UTSW 2 154228900 missense probably benign 0.11
R0898:Bpifb5 UTSW 2 154233334 missense probably benign
R1534:Bpifb5 UTSW 2 154229499 missense possibly damaging 0.86
R1539:Bpifb5 UTSW 2 154223856 missense probably benign
R1874:Bpifb5 UTSW 2 154227202 splice site probably benign
R1971:Bpifb5 UTSW 2 154230344 missense probably benign 0.18
R2001:Bpifb5 UTSW 2 154233279 missense possibly damaging 0.53
R3013:Bpifb5 UTSW 2 154228855 missense possibly damaging 0.59
R3916:Bpifb5 UTSW 2 154228181 missense probably benign
R4499:Bpifb5 UTSW 2 154240758 missense possibly damaging 0.53
R5250:Bpifb5 UTSW 2 154224961 missense probably benign
R6301:Bpifb5 UTSW 2 154230219 missense possibly damaging 0.73
R6836:Bpifb5 UTSW 2 154228065 missense probably benign 0.02
R6869:Bpifb5 UTSW 2 154233223 missense probably benign 0.33
R7014:Bpifb5 UTSW 2 154224956 nonsense probably null
R7300:Bpifb5 UTSW 2 154228146 missense possibly damaging 0.85
R7427:Bpifb5 UTSW 2 154225122 missense probably benign
R7428:Bpifb5 UTSW 2 154225122 missense probably benign
R7439:Bpifb5 UTSW 2 154228933 missense possibly damaging 0.71
R7448:Bpifb5 UTSW 2 154230185 missense possibly damaging 0.53
R7935:Bpifb5 UTSW 2 154229055 missense probably benign 0.01
T0975:Bpifb5 UTSW 2 154229464 splice site probably null
Posted On2015-04-16