Incidental Mutation 'R1086:Brox'
ID 85010
Institutional Source Beutler Lab
Gene Symbol Brox
Ensembl Gene ENSMUSG00000046836
Gene Name BRO1 domain and CAAX motif containing
Synonyms 0610010K06Rik
MMRRC Submission 039172-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.100) question?
Stock # R1086 (G1)
Quality Score 222
Status Not validated
Chromosome 1
Chromosomal Location 183057916-183078813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 183064052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 252 (Y252H)
Ref Sequence ENSEMBL: ENSMUSP00000061345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057062] [ENSMUST00000163528] [ENSMUST00000194327] [ENSMUST00000195054]
AlphaFold Q8K2Q7
Predicted Effect probably damaging
Transcript: ENSMUST00000057062
AA Change: Y252H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000061345
Gene: ENSMUSG00000046836
AA Change: Y252H

DomainStartEndE-ValueType
BRO1 4 384 1.74e-92 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163528
AA Change: Y252H

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000132333
Gene: ENSMUSG00000046836
AA Change: Y252H

DomainStartEndE-ValueType
PDB:3ZXP|C 1 101 5e-63 PDB
Blast:BRO1 4 101 1e-67 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194089
Predicted Effect probably benign
Transcript: ENSMUST00000194327
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194695
Predicted Effect probably benign
Transcript: ENSMUST00000195054
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 94.4%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,334,220 (GRCm39) probably benign Het
Agbl4 G C 4: 110,335,791 (GRCm39) probably benign Het
Ano6 T C 15: 95,847,843 (GRCm39) probably null Het
B3gnt8 C G 7: 25,327,736 (GRCm39) N55K probably damaging Het
Cfap100 T A 6: 90,380,890 (GRCm39) K605* probably null Het
Chd7 A G 4: 8,866,458 (GRCm39) T877A probably benign Het
Csmd3 T A 15: 47,559,151 (GRCm39) I2371F probably damaging Het
Cwc22 T A 2: 77,754,824 (GRCm39) probably benign Het
Cyp2s1 A T 7: 25,505,422 (GRCm39) D347E probably damaging Het
Dab1 C A 4: 104,185,769 (GRCm39) probably benign Het
Dis3l2 G A 1: 86,917,871 (GRCm39) D493N probably benign Het
Got1l1 A G 8: 27,688,007 (GRCm39) W341R probably damaging Het
Gps2 A G 11: 69,806,050 (GRCm39) probably benign Het
Haus1 A C 18: 77,854,553 (GRCm39) probably benign Het
Itgam T C 7: 127,679,436 (GRCm39) S193P probably damaging Het
Itpr2 C A 6: 146,251,543 (GRCm39) A1034S probably damaging Het
Lrp5 T C 19: 3,699,476 (GRCm39) R270G probably benign Het
Ltbr G A 6: 125,289,703 (GRCm39) probably benign Het
Mdga2 T C 12: 66,552,876 (GRCm39) probably benign Het
Mug1 T A 6: 121,862,813 (GRCm39) M1387K probably damaging Het
Nwd2 C T 5: 63,963,917 (GRCm39) S1167L probably damaging Het
Or5h19 T A 16: 58,856,626 (GRCm39) H158L probably damaging Het
Pfkm T C 15: 98,029,546 (GRCm39) V719A probably benign Het
Ppfia3 C G 7: 45,011,182 (GRCm39) G16A probably damaging Het
Ppp2r3d G A 9: 101,031,021 (GRCm39) T245I possibly damaging Het
Ptprd T C 4: 76,051,495 (GRCm39) T256A probably damaging Het
Ptprg C T 14: 11,952,706 (GRCm38) probably benign Het
Rabgap1 T C 2: 37,359,458 (GRCm39) V7A probably damaging Het
Rnh1 T G 7: 140,743,282 (GRCm39) Q231P probably benign Het
Rwdd2b C T 16: 87,233,446 (GRCm39) probably benign Het
Saal1 T C 7: 46,338,883 (GRCm39) probably benign Het
Sap130 G A 18: 31,783,673 (GRCm39) probably benign Het
Serpina1d T G 12: 103,730,046 (GRCm39) M379L probably benign Het
Skor2 A C 18: 76,946,994 (GRCm39) S239R unknown Het
Slc16a13 A G 11: 70,109,850 (GRCm39) L217P probably damaging Het
Slc18b1 T C 10: 23,679,693 (GRCm39) M74T probably benign Het
Speer4e2 T C 5: 15,028,804 (GRCm39) D29G probably benign Het
Tacc2 A T 7: 130,228,227 (GRCm39) E1637D possibly damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tg A C 15: 66,555,911 (GRCm39) I868L probably benign Het
Ttll5 G A 12: 85,937,853 (GRCm39) V395I possibly damaging Het
Uba6 C A 5: 86,275,578 (GRCm39) C739F probably benign Het
Unc5d A C 8: 29,365,658 (GRCm39) V109G possibly damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Zfp462 G T 4: 55,013,000 (GRCm39) K507N probably damaging Het
Other mutations in Brox
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0854:Brox UTSW 1 183,069,322 (GRCm39) missense possibly damaging 0.50
R4488:Brox UTSW 1 183,062,514 (GRCm39) missense probably benign 0.01
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'- GCTGGTAAGGAACCTCTAAAAGGCAC -3'
(R):5'- GAGCTAAGCAATGCTCCAGTGAAACG -3'

Sequencing Primer
(F):5'- agggctgctgggactac -3'
(R):5'- CTCCAGTGAAACGGGGTG -3'
Posted On 2013-11-18