Incidental Mutation 'R2442:Bri3'
ID 476274
Institutional Source Beutler Lab
Gene Symbol Bri3
Ensembl Gene ENSMUSG00000047843
Gene Name brain protein I3
Synonyms I3 protein
MMRRC Submission 040400-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2442 (G1)
Quality Score 150
Status Not validated
Chromosome 5
Chromosomal Location 144181247-144383567 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 144181411 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 39 (T39I)
Ref Sequence ENSEMBL: ENSMUSP00000106323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110695]
AlphaFold P28662
Predicted Effect probably benign
Transcript: ENSMUST00000110695
AA Change: T39I

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000106323
Gene: ENSMUSG00000047843
AA Change: T39I

DomainStartEndE-ValueType
Pfam:DUF2367 28 120 1.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124015
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153130
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,547,606 (GRCm39) V256A probably benign Het
Acap1 T C 11: 69,780,317 (GRCm39) N42S possibly damaging Het
Apoo-ps C A 13: 107,551,140 (GRCm39) noncoding transcript Het
Bsn A G 9: 107,984,119 (GRCm39) S3312P unknown Het
Camkmt C A 17: 85,398,203 (GRCm39) A17E possibly damaging Het
Cc2d2a G T 5: 43,828,647 (GRCm39) probably null Het
Ccdc122 G T 14: 77,329,398 (GRCm39) M150I possibly damaging Het
Celf4 A G 18: 25,886,516 (GRCm39) F57L probably damaging Het
Cep192 T A 18: 67,957,759 (GRCm39) F564Y possibly damaging Het
Ces1c T C 8: 93,849,840 (GRCm39) D38G probably damaging Het
Cts7 C A 13: 61,503,431 (GRCm39) G178* probably null Het
Dcc A T 18: 71,589,954 (GRCm39) Y681N probably damaging Het
Dhx29 A G 13: 113,083,508 (GRCm39) E521G possibly damaging Het
Dnase2a T C 8: 85,635,622 (GRCm39) V35A probably damaging Het
Eif3l A G 15: 78,969,807 (GRCm39) M268V probably damaging Het
Foxc1 A G 13: 31,992,781 (GRCm39) M531V unknown Het
Grin2c A G 11: 115,141,960 (GRCm39) Y820H probably damaging Het
Ifit1bl1 G A 19: 34,572,289 (GRCm39) A56V probably benign Het
Iqsec1 T C 6: 90,666,865 (GRCm39) E524G possibly damaging Het
Kcnt2 A G 1: 140,304,091 (GRCm39) I154V possibly damaging Het
Kdm1b T A 13: 47,216,451 (GRCm39) Y274N probably benign Het
Kntc1 T A 5: 123,948,922 (GRCm39) L1889Q probably damaging Het
Lama1 A G 17: 68,075,312 (GRCm39) T1010A probably benign Het
Mmp11 T C 10: 75,763,079 (GRCm39) N171S probably benign Het
Myom1 A G 17: 71,417,730 (GRCm39) E1409G probably damaging Het
N4bp1 A G 8: 87,588,668 (GRCm39) I90T probably damaging Het
Or4c52 T C 2: 89,845,685 (GRCm39) V137A probably benign Het
Plcb4 T C 2: 135,792,302 (GRCm39) S342P probably damaging Het
Plg A G 17: 12,629,847 (GRCm39) E627G probably benign Het
Rsf1 CG CGACGGCGGAG 7: 97,229,115 (GRCm39) probably benign Het
Sla2 G A 2: 156,717,862 (GRCm39) R137C probably damaging Het
Slc7a14 A G 3: 31,284,469 (GRCm39) I289T probably damaging Het
Srpra G A 9: 35,123,297 (GRCm39) G43S possibly damaging Het
Tbc1d9 T C 8: 83,892,705 (GRCm39) M1T probably null Het
Tcte2 A T 17: 13,934,339 (GRCm39) I90N possibly damaging Het
Trim30c G A 7: 104,031,481 (GRCm39) P445S probably damaging Het
Trrap A G 5: 144,754,776 (GRCm39) Q1984R probably damaging Het
Ubn2 T C 6: 38,467,940 (GRCm39) S885P probably benign Het
Unc45a A G 7: 79,989,417 (GRCm39) F17S probably damaging Het
Uts2b C T 16: 27,179,782 (GRCm39) V75I probably benign Het
Vmn2r103 A G 17: 19,993,793 (GRCm39) K57E probably benign Het
Vmn2r82 A G 10: 79,221,210 (GRCm39) S524G probably damaging Het
Other mutations in Bri3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0002:Bri3 UTSW 5 144,181,312 (GRCm39) missense probably benign 0.01
R5704:Bri3 UTSW 5 144,192,716 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2017-05-11