Incidental Mutation 'IGL02244:Bpifb5'
ID 286108
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb5
Ensembl Gene ENSMUSG00000038572
Gene Name BPI fold containing family B, member 5
Synonyms BC018465
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02244
Quality Score
Status
Chromosome 2
Chromosomal Location 154065662-154082822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 154067068 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UQ05
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: 90,853,085 (GRCm39) T17K probably benign Het
Agbl1 T C 7: 76,416,120 (GRCm39) S714P probably damaging Het
Araf A G X: 20,719,835 (GRCm39) probably benign Het
Armc3 G A 2: 19,290,948 (GRCm39) probably null Het
Armc8 A T 9: 99,365,227 (GRCm39) D638E probably benign Het
Ces1e A C 8: 93,938,977 (GRCm39) probably null Het
Col4a3 C A 1: 82,647,492 (GRCm39) probably benign Het
Col4a5 A G X: 140,382,669 (GRCm39) probably benign Het
Crocc T C 4: 140,765,231 (GRCm39) H477R probably benign Het
Dgkd C A 1: 87,842,863 (GRCm39) N130K probably benign Het
Dock1 C T 7: 134,379,174 (GRCm39) Q634* probably null Het
Dzip3 C T 16: 48,801,351 (GRCm39) V58I probably benign Het
Fndc3a A G 14: 72,793,807 (GRCm39) probably benign Het
Glp2r C T 11: 67,612,817 (GRCm39) R379H probably damaging Het
Kctd12b T A X: 152,472,330 (GRCm39) M120L probably benign Het
Krt33b A G 11: 99,916,189 (GRCm39) V258A probably benign Het
Lpin1 T A 12: 16,591,770 (GRCm39) N819I probably damaging Het
Lurap1l T C 4: 80,871,866 (GRCm39) S120P probably damaging Het
Lysmd4 T C 7: 66,875,672 (GRCm39) S112P probably damaging Het
Myo1e A G 9: 70,274,971 (GRCm39) K708R probably benign Het
Nr3c1 T A 18: 39,554,610 (GRCm39) probably benign Het
Nup62cl G T X: 138,922,780 (GRCm39) N239K probably benign Het
Nwd1 A T 8: 73,434,210 (GRCm39) E1269V probably damaging Het
Or52e7 C T 7: 104,685,152 (GRCm39) T249M probably damaging Het
Pcdh9 A C 14: 93,564,204 (GRCm39) L1084R probably damaging Het
Plxnd1 A G 6: 115,955,218 (GRCm39) M543T probably benign Het
Prss53 T A 7: 127,487,964 (GRCm39) T173S possibly damaging Het
Reep2 C A 18: 34,973,807 (GRCm39) probably benign Het
Rp1 T C 1: 4,419,003 (GRCm39) D703G probably benign Het
Sbf2 T G 7: 110,159,502 (GRCm39) D36A probably damaging Het
Sh3kbp1 C T X: 158,586,724 (GRCm39) R99W probably damaging Het
Sis T A 3: 72,863,523 (GRCm39) R238S probably benign Het
Slc35e2 T A 4: 155,703,019 (GRCm39) V344D probably damaging Het
Specc1 G A 11: 62,019,194 (GRCm39) V678I probably benign Het
Supt6 T C 11: 78,123,623 (GRCm39) D49G possibly damaging Het
Tecpr1 G A 5: 144,146,821 (GRCm39) A515V probably benign Het
Tlr4 G A 4: 66,752,298 (GRCm39) probably null Het
Tmco5b A G 2: 113,118,619 (GRCm39) E114G probably damaging Het
Tspear A T 10: 77,688,690 (GRCm39) probably benign Het
Txlnb T A 10: 17,719,116 (GRCm39) V649E probably benign Het
Utp20 A G 10: 88,651,818 (GRCm39) probably benign Het
Virma G A 4: 11,546,031 (GRCm39) R1673Q probably damaging Het
Vmn2r70 T A 7: 85,214,211 (GRCm39) T314S probably benign Het
Zfp938 G T 10: 82,061,906 (GRCm39) T238K possibly damaging Het
Other mutations in Bpifb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01543:Bpifb5 APN 2 154,075,169 (GRCm39) missense possibly damaging 0.86
IGL01676:Bpifb5 APN 2 154,070,969 (GRCm39) missense possibly damaging 0.71
IGL02065:Bpifb5 APN 2 154,069,103 (GRCm39) missense probably damaging 0.98
IGL02141:Bpifb5 APN 2 154,071,477 (GRCm39) splice site probably null
IGL03118:Bpifb5 APN 2 154,078,673 (GRCm39) splice site probably benign
A4554:Bpifb5 UTSW 2 154,069,100 (GRCm39) missense possibly damaging 0.71
R0022:Bpifb5 UTSW 2 154,072,268 (GRCm39) missense probably damaging 0.98
R0492:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0654:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0692:Bpifb5 UTSW 2 154,076,616 (GRCm39) missense probably benign 0.33
R0707:Bpifb5 UTSW 2 154,070,820 (GRCm39) missense probably benign 0.11
R0898:Bpifb5 UTSW 2 154,075,254 (GRCm39) missense probably benign
R1534:Bpifb5 UTSW 2 154,071,419 (GRCm39) missense possibly damaging 0.86
R1539:Bpifb5 UTSW 2 154,065,776 (GRCm39) missense probably benign
R1874:Bpifb5 UTSW 2 154,069,122 (GRCm39) splice site probably benign
R1971:Bpifb5 UTSW 2 154,072,264 (GRCm39) missense probably benign 0.18
R2001:Bpifb5 UTSW 2 154,075,199 (GRCm39) missense possibly damaging 0.53
R3013:Bpifb5 UTSW 2 154,070,775 (GRCm39) missense possibly damaging 0.59
R3916:Bpifb5 UTSW 2 154,070,101 (GRCm39) missense probably benign
R4499:Bpifb5 UTSW 2 154,082,678 (GRCm39) missense possibly damaging 0.53
R5250:Bpifb5 UTSW 2 154,066,881 (GRCm39) missense probably benign
R6301:Bpifb5 UTSW 2 154,072,139 (GRCm39) missense possibly damaging 0.73
R6836:Bpifb5 UTSW 2 154,069,985 (GRCm39) missense probably benign 0.02
R6869:Bpifb5 UTSW 2 154,075,143 (GRCm39) missense probably benign 0.33
R7014:Bpifb5 UTSW 2 154,066,876 (GRCm39) nonsense probably null
R7300:Bpifb5 UTSW 2 154,070,066 (GRCm39) missense possibly damaging 0.85
R7427:Bpifb5 UTSW 2 154,067,042 (GRCm39) missense probably benign
R7428:Bpifb5 UTSW 2 154,067,042 (GRCm39) missense probably benign
R7439:Bpifb5 UTSW 2 154,070,853 (GRCm39) missense possibly damaging 0.71
R7448:Bpifb5 UTSW 2 154,072,105 (GRCm39) missense possibly damaging 0.53
R7935:Bpifb5 UTSW 2 154,070,975 (GRCm39) missense probably benign 0.01
R8964:Bpifb5 UTSW 2 154,072,198 (GRCm39) missense possibly damaging 0.96
R9049:Bpifb5 UTSW 2 154,070,096 (GRCm39) missense probably benign 0.00
R9058:Bpifb5 UTSW 2 154,080,817 (GRCm39) missense possibly damaging 0.85
R9349:Bpifb5 UTSW 2 154,067,005 (GRCm39) missense possibly damaging 0.96
T0975:Bpifb5 UTSW 2 154,071,384 (GRCm39) splice site probably null
Posted On 2015-04-16