Incidental Mutation 'IGL02568:Bpifb3'
ID 298915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bpifb3
Ensembl Gene ENSMUSG00000068008
Gene Name BPI fold containing family B, member 3
Synonyms Rya3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02568
Quality Score
Status
Chromosome 2
Chromosomal Location 153760150-153774916 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153766721 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 208 (E208G)
Ref Sequence ENSEMBL: ENSMUSP00000105382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088950] [ENSMUST00000109760]
AlphaFold Q80ZU7
Predicted Effect probably benign
Transcript: ENSMUST00000088950
AA Change: E208G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000086342
Gene: ENSMUSG00000068008
AA Change: E208G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
BPI1 30 272 3.22e-52 SMART
BPI2 271 471 1.4e-70 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109760
AA Change: E208G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000105382
Gene: ENSMUSG00000068008
AA Change: E208G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
BPI1 30 272 3.22e-52 SMART
BPI2 271 471 1.4e-70 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 A G 15: 91,033,184 (GRCm39) probably benign Het
Abcg5 C T 17: 84,977,827 (GRCm39) R143Q probably damaging Het
Arap3 G A 18: 38,129,711 (GRCm39) T150I probably benign Het
Arhgap32 T C 9: 32,158,490 (GRCm39) V175A probably damaging Het
C2 T A 17: 35,083,325 (GRCm39) D518V possibly damaging Het
C6 T A 15: 4,820,646 (GRCm39) C552* probably null Het
Ccdc38 A T 10: 93,415,685 (GRCm39) D447V probably damaging Het
Cept1 C T 3: 106,411,035 (GRCm39) R386H probably benign Het
Comt A G 16: 18,230,454 (GRCm39) V85A probably damaging Het
Ddx24 G T 12: 103,383,571 (GRCm39) L627I probably damaging Het
Efemp1 T C 11: 28,866,971 (GRCm39) probably null Het
Etf1 T C 18: 35,046,714 (GRCm39) T99A possibly damaging Het
Fhad1 T C 4: 141,660,105 (GRCm39) E68G probably null Het
Fzd3 C A 14: 65,473,389 (GRCm39) probably benign Het
Gins3 T C 8: 96,364,606 (GRCm39) F119L probably benign Het
Golga5 G T 12: 102,438,338 (GRCm39) V18L probably benign Het
Il16 C A 7: 83,310,484 (GRCm39) R474M probably damaging Het
Itpr1 C A 6: 108,316,515 (GRCm39) Q71K possibly damaging Het
Kif21b T G 1: 136,100,605 (GRCm39) L1562R probably damaging Het
Lamc2 T C 1: 153,042,008 (GRCm39) E42G possibly damaging Het
Mmp3 T G 9: 7,446,001 (GRCm39) L35R probably benign Het
Naip6 C A 13: 100,452,780 (GRCm39) G94W probably damaging Het
Nccrp1 G A 7: 28,243,905 (GRCm39) A226V probably damaging Het
Nckap5l A G 15: 99,323,564 (GRCm39) Y980H probably damaging Het
Ncoa3 T C 2: 165,911,277 (GRCm39) S1345P probably damaging Het
Nop2 T C 6: 125,117,813 (GRCm39) S455P probably damaging Het
Nup93 T C 8: 95,036,263 (GRCm39) F689S probably damaging Het
Or5b112 T C 19: 13,319,583 (GRCm39) F154L probably benign Het
Plekhm1 T A 11: 103,285,876 (GRCm39) E186D probably damaging Het
Plxdc1 T C 11: 97,869,390 (GRCm39) Q66R probably damaging Het
Prkdc T G 16: 15,544,406 (GRCm39) Y1799D probably damaging Het
Rasa2 A G 9: 96,462,563 (GRCm39) F220L probably damaging Het
Rftn1 T C 17: 50,344,027 (GRCm39) D87G probably damaging Het
Rgs6 C T 12: 83,117,376 (GRCm39) T266M probably benign Het
Sec16a A G 2: 26,326,054 (GRCm39) Y1208H probably damaging Het
Slc12a1 G T 2: 125,026,648 (GRCm39) V428L probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Svep1 T A 4: 58,135,441 (GRCm39) T556S probably benign Het
Tanc2 T A 11: 105,667,777 (GRCm39) N119K probably benign Het
Tpgs1 T A 10: 79,505,238 (GRCm39) probably benign Het
Tpm3-rs7 A G 14: 113,552,370 (GRCm39) E88G probably damaging Het
Tsr1 T C 11: 74,791,204 (GRCm39) V261A probably benign Het
Usp18 C T 6: 121,238,050 (GRCm39) T143I probably benign Het
Vmn2r24 T C 6: 123,792,812 (GRCm39) I713T probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Bpifb3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01982:Bpifb3 APN 2 153,767,521 (GRCm39) missense probably benign 0.42
IGL02817:Bpifb3 APN 2 153,761,566 (GRCm39) missense unknown
IGL03175:Bpifb3 APN 2 153,761,568 (GRCm39) missense unknown
R0478:Bpifb3 UTSW 2 153,773,400 (GRCm39) splice site probably benign
R0538:Bpifb3 UTSW 2 153,765,789 (GRCm39) missense probably benign 0.05
R1633:Bpifb3 UTSW 2 153,764,504 (GRCm39) missense probably damaging 1.00
R1850:Bpifb3 UTSW 2 153,771,264 (GRCm39) missense possibly damaging 0.69
R1874:Bpifb3 UTSW 2 153,767,760 (GRCm39) missense probably benign 0.01
R5993:Bpifb3 UTSW 2 153,771,234 (GRCm39) missense probably benign 0.20
R6120:Bpifb3 UTSW 2 153,773,363 (GRCm39) missense probably benign 0.12
R6170:Bpifb3 UTSW 2 153,761,557 (GRCm39) missense unknown
R6216:Bpifb3 UTSW 2 153,767,773 (GRCm39) missense probably benign 0.17
R6274:Bpifb3 UTSW 2 153,771,243 (GRCm39) missense possibly damaging 0.87
R6431:Bpifb3 UTSW 2 153,766,728 (GRCm39) missense probably damaging 1.00
R6466:Bpifb3 UTSW 2 153,764,108 (GRCm39) missense probably damaging 0.99
R6609:Bpifb3 UTSW 2 153,762,568 (GRCm39) critical splice donor site probably null
R7334:Bpifb3 UTSW 2 153,761,654 (GRCm39) missense probably damaging 1.00
R8111:Bpifb3 UTSW 2 153,764,609 (GRCm39) missense probably benign 0.00
R8375:Bpifb3 UTSW 2 153,767,715 (GRCm39) missense probably benign 0.01
R8812:Bpifb3 UTSW 2 153,764,516 (GRCm39) missense probably benign 0.00
R9049:Bpifb3 UTSW 2 153,767,810 (GRCm39) missense probably benign 0.08
Z1177:Bpifb3 UTSW 2 153,767,709 (GRCm39) missense probably benign 0.36
Posted On 2015-04-16