Incidental Mutation 'R0002:Bri3'
ID8125
Institutional Source Beutler Lab
Gene Symbol Bri3
Ensembl Gene ENSMUSG00000047843
Gene Namebrain protein I3
SynonymsI3 protein
MMRRC Submission 038298-MU
Accession Numbers
Is this an essential gene? Not available question?
Stock #R0002 (G1)
Quality Score
Status Validated
Chromosome5
Chromosomal Location144244437-144446757 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 144244502 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Phenylalanine at position 6 (C6F)
Ref Sequence ENSEMBL: ENSMUSP00000106323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110695]
Predicted Effect probably benign
Transcript: ENSMUST00000110695
AA Change: C6F

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000106323
Gene: ENSMUSG00000047843
AA Change: C6F

DomainStartEndE-ValueType
Pfam:DUF2367 28 120 1.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153130
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 79.5%
  • 10x: 62.0%
  • 20x: 53.1%
Validation Efficiency 95% (61/64)
Allele List at MGI
Other mutations in this stock
Total: 19 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630095E13Rik A T 9: 36,637,359 D59E probably damaging Het
Aco1 T C 4: 40,176,649 probably benign Het
Bcl2 T C 1: 106,712,511 R124G possibly damaging Het
Chn2 A G 6: 54,273,113 N69S probably benign Het
Col5a3 T A 9: 20,809,856 probably null Het
Dhx36 A C 3: 62,480,839 L625W probably damaging Het
Exph5 G T 9: 53,373,956 R779I probably damaging Het
F5 T C 1: 164,201,631 F1733S probably damaging Het
Hsh2d G A 8: 72,200,460 D229N probably benign Het
Iqch T C 9: 63,594,743 probably benign Het
Lgr6 C T 1: 134,994,010 A199T probably damaging Het
Patl2 G A 2: 122,125,710 probably benign Het
Pik3c2g A G 6: 139,768,745 T208A probably benign Het
Prkag3 T C 1: 74,744,788 D312G probably damaging Het
Slc26a5 T A 5: 21,814,983 I530F probably damaging Het
Tacc2 T A 7: 130,621,785 S67T probably damaging Het
Tas2r113 T A 6: 132,893,779 S257T probably benign Het
Tnr T C 1: 159,874,200 Y624H probably damaging Het
Ubr4 T C 4: 139,390,900 L112P probably damaging Het
Other mutations in Bri3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2442:Bri3 UTSW 5 144244601 missense probably benign 0.19
R5704:Bri3 UTSW 5 144255906 missense probably damaging 0.99
Posted On2012-11-20