Incidental Mutation 'R0002:Bri3'
ID 8125
Institutional Source Beutler Lab
Gene Symbol Bri3
Ensembl Gene ENSMUSG00000047843
Gene Name brain protein I3
Synonyms I3 protein
MMRRC Submission 038298-MU
Accession Numbers
Essential gene? Not available question?
Stock # R0002 (G1)
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 144181247-144383567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 144181312 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 6 (C6F)
Ref Sequence ENSEMBL: ENSMUSP00000106323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110695]
AlphaFold P28662
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
Aco1 T C 4: 40,176,649 (GRCm39) probably benign Het
Bcl2 T C 1: 106,640,241 (GRCm39) R124G possibly damaging Het
Chn2 A G 6: 54,250,098 (GRCm39) N69S probably benign Het
Col5a3 T A 9: 20,721,152 (GRCm39) probably null Het
Dhx36 A C 3: 62,388,260 (GRCm39) L625W probably damaging Het
Exph5 G T 9: 53,285,256 (GRCm39) R779I probably damaging Het
F5 T C 1: 164,029,200 (GRCm39) F1733S probably damaging Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Iqch T C 9: 63,502,025 (GRCm39) probably benign Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Pate14 A T 9: 36,548,655 (GRCm39) D59E probably damaging Het
Patl2 G A 2: 121,956,191 (GRCm39) probably benign Het
Pik3c2g A G 6: 139,714,471 (GRCm39) T208A probably benign Het
Prkag3 T C 1: 74,783,947 (GRCm39) D312G probably damaging Het
Slc26a5 T A 5: 22,019,981 (GRCm39) I530F probably damaging Het
Tacc2 T A 7: 130,223,515 (GRCm39) S67T probably damaging Het
Tas2r113 T A 6: 132,870,742 (GRCm39) S257T probably benign Het
Tnr T C 1: 159,701,770 (GRCm39) Y624H probably damaging Het
Ubr4 T C 4: 139,118,211 (GRCm39) L112P probably damaging Het
Other mutations in Bri3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2442:Bri3 UTSW 5 144,181,411 (GRCm39) missense probably benign 0.19
R5704:Bri3 UTSW 5 144,192,716 (GRCm39) missense probably damaging 0.99
Posted On 2012-11-20