Incidental Mutation 'R4488:Brox'
ID 397249
Institutional Source Beutler Lab
Gene Symbol Brox
Ensembl Gene ENSMUSG00000046836
Gene Name BRO1 domain and CAAX motif containing
Synonyms 0610010K06Rik
MMRRC Submission 041744-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R4488 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 183057916-183078813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 183062514 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 280 (L280S)
Ref Sequence ENSEMBL: ENSMUSP00000061345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057062] [ENSMUST00000163528] [ENSMUST00000194327]
AlphaFold Q8K2Q7
Predicted Effect probably benign
Transcript: ENSMUST00000057062
AA Change: L280S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000061345
Gene: ENSMUSG00000046836
AA Change: L280S

DomainStartEndE-ValueType
BRO1 4 384 1.74e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163528
AA Change: L280S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000132333
Gene: ENSMUSG00000046836
AA Change: L280S

DomainStartEndE-ValueType
PDB:3ZXP|C 1 101 5e-63 PDB
Blast:BRO1 4 101 1e-67 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000194327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194695
Meta Mutation Damage Score 0.0956 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 95% (38/40)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkal1 A T 1: 6,429,631 (GRCm39) Q26L probably benign Het
Bltp1 A T 3: 37,058,082 (GRCm39) Q3224L probably null Het
Cep41 A T 6: 30,655,688 (GRCm39) probably benign Het
Cryz C A 3: 154,324,094 (GRCm39) probably benign Het
Cyp26c1 T C 19: 37,681,658 (GRCm39) V487A probably benign Het
Dlx6 T C 6: 6,867,207 (GRCm39) M270T probably damaging Het
Glb1 T C 9: 114,272,182 (GRCm39) I273T probably damaging Het
Glp1r A C 17: 31,137,905 (GRCm39) H112P probably benign Het
Grm6 T C 11: 50,750,816 (GRCm39) S660P probably damaging Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Hcrtr1 A G 4: 130,029,556 (GRCm39) V175A probably benign Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Kifbp A G 10: 62,398,806 (GRCm39) probably benign Het
Mki67 G A 7: 135,299,400 (GRCm39) T1878I probably benign Het
Ncoa6 A G 2: 155,249,396 (GRCm39) F1303L possibly damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nutf2 T A 8: 106,603,059 (GRCm39) probably null Het
Or52e7 T C 7: 104,684,510 (GRCm39) F35S probably benign Het
Rbm45 T C 2: 76,206,740 (GRCm39) S251P probably damaging Het
Rnaset2b A G 17: 7,265,469 (GRCm39) Y155C probably damaging Het
Rnf122 A G 8: 31,618,283 (GRCm39) T92A probably damaging Het
Rnf220 A G 4: 117,347,011 (GRCm39) S134P probably damaging Het
Shprh A T 10: 11,036,215 (GRCm39) I351F probably benign Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Sulf1 G T 1: 12,856,739 (GRCm39) probably benign Het
Svil T C 18: 5,049,067 (GRCm39) Y202H probably damaging Het
Tek A G 4: 94,737,993 (GRCm39) D681G possibly damaging Het
Tra2a A G 6: 49,229,428 (GRCm39) probably benign Het
Vcp A T 4: 42,993,826 (GRCm39) I102N probably damaging Het
Vmn2r25 A T 6: 123,799,819 (GRCm39) I841N probably damaging Het
Zfp949 T C 9: 88,452,142 (GRCm39) S571P probably damaging Het
Zkscan16 A G 4: 58,957,431 (GRCm39) E571G possibly damaging Het
Zup1 G A 10: 33,824,960 (GRCm39) T174I probably damaging Het
Other mutations in Brox
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0854:Brox UTSW 1 183,069,322 (GRCm39) missense possibly damaging 0.50
R1086:Brox UTSW 1 183,064,052 (GRCm39) missense probably damaging 1.00
R4524:Brox UTSW 1 183,074,045 (GRCm39) missense possibly damaging 0.95
R5112:Brox UTSW 1 183,073,541 (GRCm39) missense probably benign
R5559:Brox UTSW 1 183,073,552 (GRCm39) missense possibly damaging 0.83
R5951:Brox UTSW 1 183,064,072 (GRCm39) missense probably damaging 1.00
R7027:Brox UTSW 1 183,065,750 (GRCm39) missense possibly damaging 0.92
R7029:Brox UTSW 1 183,065,750 (GRCm39) missense possibly damaging 0.92
R7229:Brox UTSW 1 183,073,523 (GRCm39) nonsense probably null
R7629:Brox UTSW 1 183,074,068 (GRCm39) missense probably damaging 0.97
R7935:Brox UTSW 1 183,062,484 (GRCm39) missense probably damaging 0.98
R8140:Brox UTSW 1 183,075,437 (GRCm39) splice site probably null
R8164:Brox UTSW 1 183,062,491 (GRCm39) missense possibly damaging 0.95
R9430:Brox UTSW 1 183,069,353 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTAACGGTTATGGCCCTGC -3'
(R):5'- AAGGGAATGAGTAGCTTCTGGC -3'

Sequencing Primer
(F):5'- TATGGCCCTGCGGTACTAGAG -3'
(R):5'- CTTCTGGCTGAGTCCTTGAAAG -3'
Posted On 2016-06-29