Incidental Mutation 'IGL02079:Bri3bp'
ID186061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bri3bp
Ensembl Gene ENSMUSG00000037905
Gene NameBri3 binding protein
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.072) question?
Stock #IGL02079
Quality Score
Status
Chromosome5
Chromosomal Location125441568-125460370 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 125454689 bp
ZygosityHeterozygous
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

DomainStartEndE-ValueType
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