Incidental Mutation 'IGL02079:Bri3bp'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bri3bp
Ensembl Gene ENSMUSG00000037905
Gene NameBri3 binding protein
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02079
Quality Score
Chromosomal Location125441568-125460370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125454689 bp
Amino Acid Change Valine to Alanine at position 233 (V233A)
Ref Sequence ENSEMBL: ENSMUSP00000037609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049040]
Predicted Effect probably damaging
Transcript: ENSMUST00000049040
AA Change: V233A

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000037609
Gene: ENSMUSG00000037905
AA Change: V233A

signal peptide 1 40 N/A INTRINSIC
Pfam:BRI3BP 55 241 1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198811
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5330417C22Rik T A 3: 108,481,359 N236I possibly damaging Het
Abl1 T C 2: 31,689,948 probably benign Het
Ago4 A T 4: 126,517,084 M204K probably damaging Het
Alms1 T C 6: 85,628,634 V2422A probably damaging Het
Ap5z1 T C 5: 142,477,113 probably null Het
Arsa T C 15: 89,473,351 T470A probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Ephb6 T A 6: 41,616,014 D395E possibly damaging Het
Flt1 T A 5: 147,568,831 probably benign Het
Fry A T 5: 150,399,624 N1080I probably damaging Het
Gdpgp1 T A 7: 80,239,020 D266E probably benign Het
Gspt1 A G 16: 11,240,829 S123P probably benign Het
Kctd17 T C 15: 78,430,156 probably benign Het
Lamb2 T A 9: 108,482,113 C313S probably damaging Het
Lcor T A 19: 41,555,687 S106R probably benign Het
Lgr5 A C 10: 115,452,194 S776R probably damaging Het
Mettl16 T G 11: 74,817,624 C510G probably damaging Het
Mlip T C 9: 77,239,529 T101A possibly damaging Het
Myh6 A T 14: 54,950,541 L1152Q probably damaging Het
Mylk G A 16: 34,860,631 R87H possibly damaging Het
Npepl1 C T 2: 174,119,390 probably benign Het
Nrxn1 A T 17: 90,643,083 M548K probably damaging Het
Olfr1205 T A 2: 88,831,647 C177S probably damaging Het
Olfr514 T A 7: 108,825,936 E21V probably damaging Het
Pate3 T A 9: 35,646,153 Q69L probably damaging Het
Piwil1 T C 5: 128,742,003 V192A possibly damaging Het
Plcxd2 A T 16: 45,972,343 I211N probably benign Het
Plekhg3 T A 12: 76,560,429 Y88N probably benign Het
Rabgap1l C T 1: 160,738,970 C58Y probably benign Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rusc2 A G 4: 43,425,668 S1258G probably benign Het
Scn1a T C 2: 66,323,360 R710G probably benign Het
Wwc1 A G 11: 35,876,058 S457P probably damaging Het
Xdh C T 17: 73,891,277 G1205D probably damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Zfp592 T C 7: 81,039,230 S1080P probably benign Het
Other mutations in Bri3bp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01347:Bri3bp APN 5 125454517 missense probably damaging 0.99
IGL02081:Bri3bp APN 5 125441897 splice site probably null
R0539:Bri3bp UTSW 5 125454539 missense probably damaging 1.00
R0883:Bri3bp UTSW 5 125441744 unclassified probably null
R2129:Bri3bp UTSW 5 125451671 nonsense probably null
R4703:Bri3bp UTSW 5 125451766 missense probably damaging 1.00
R4989:Bri3bp UTSW 5 125441696 unclassified probably benign
R5947:Bri3bp UTSW 5 125452153 nonsense probably null
R5947:Bri3bp UTSW 5 125452154 intron probably benign
R6369:Bri3bp UTSW 5 125454701 missense probably damaging 0.99
R7235:Bri3bp UTSW 5 125441684 missense unknown
Posted On2014-05-07