Incidental Mutation 'R5559:Brox'
ID 436442
Institutional Source Beutler Lab
Gene Symbol Brox
Ensembl Gene ENSMUSG00000046836
Gene Name BRO1 domain and CAAX motif containing
Synonyms 0610010K06Rik
MMRRC Submission 043116-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R5559 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 183057916-183078813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 183073552 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 39 (S39R)
Ref Sequence ENSEMBL: ENSMUSP00000141248 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057062] [ENSMUST00000163528] [ENSMUST00000192829] [ENSMUST00000194327] [ENSMUST00000195054]
AlphaFold Q8K2Q7
Predicted Effect probably benign
Transcript: ENSMUST00000057062
AA Change: V75E

PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000061345
Gene: ENSMUSG00000046836
AA Change: V75E

DomainStartEndE-ValueType
BRO1 4 384 1.74e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000163528
AA Change: V75E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000132333
Gene: ENSMUSG00000046836
AA Change: V75E

DomainStartEndE-ValueType
PDB:3ZXP|C 1 101 5e-63 PDB
Blast:BRO1 4 101 1e-67 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192252
Predicted Effect probably benign
Transcript: ENSMUST00000192829
AA Change: V75E

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000141585
Gene: ENSMUSG00000046836
AA Change: V75E

DomainStartEndE-ValueType
PDB:3ZXP|C 1 91 4e-55 PDB
Blast:BRO1 4 91 9e-59 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194089
Predicted Effect possibly damaging
Transcript: ENSMUST00000194327
AA Change: S39R

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194438
Predicted Effect probably benign
Transcript: ENSMUST00000195054
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 94.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik G T 16: 88,555,981 (GRCm39) R65L unknown Het
Abcc5 A T 16: 20,157,636 (GRCm39) M1307K probably damaging Het
Anapc1 A T 2: 128,522,354 (GRCm39) C129* probably null Het
Brd10 A C 19: 29,694,363 (GRCm39) F1710C possibly damaging Het
Ccdc168 C G 1: 44,097,675 (GRCm39) R1141T possibly damaging Het
Cd109 T C 9: 78,568,250 (GRCm39) V310A probably benign Het
Chd9 G A 8: 91,742,553 (GRCm39) probably null Het
Chmp2b A T 16: 65,337,316 (GRCm39) I170N probably damaging Het
Cnp G T 11: 100,467,243 (GRCm39) G62V probably damaging Het
Dcp2 C A 18: 44,538,554 (GRCm39) P206T probably damaging Het
Dhx57 A T 17: 80,561,808 (GRCm39) V902E possibly damaging Het
Dmwd G A 7: 18,814,363 (GRCm39) V338M probably damaging Het
Eva1c A G 16: 90,701,139 (GRCm39) D258G probably benign Het
Flvcr2 T A 12: 85,851,181 (GRCm39) F448L probably benign Het
Garin5b A G 7: 4,761,449 (GRCm39) V421A probably damaging Het
Gchfr C T 2: 119,000,187 (GRCm39) H23Y probably benign Het
Helz2 T A 2: 180,871,919 (GRCm39) M2617L probably damaging Het
Ighv5-9-1 A T 12: 113,699,745 (GRCm39) Y122* probably null Het
Lrrtm3 A G 10: 63,766,045 (GRCm39) I514T probably benign Het
Nolc1 GAGCAGCAGCAGCAGCAGCAGCAGCAGC GAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,071,594 (GRCm39) probably benign Het
Obox5 A T 7: 15,491,522 (GRCm39) I21F probably benign Het
Or51f1 C T 7: 102,506,414 (GRCm39) G25D possibly damaging Het
P2rx2 T C 5: 110,488,427 (GRCm39) I376V possibly damaging Het
Poli A G 18: 70,642,356 (GRCm39) S529P probably benign Het
Ruvbl1 T C 6: 88,450,078 (GRCm39) I83T possibly damaging Het
Rwdd2a T C 9: 86,456,483 (GRCm39) S220P probably damaging Het
Serpinb9h T A 13: 33,588,301 (GRCm39) D295E probably benign Het
Sf3b3 A T 8: 111,564,847 (GRCm39) D320E probably benign Het
Slc6a21 C A 7: 44,937,853 (GRCm39) L390I possibly damaging Het
Smarcd1 T G 15: 99,601,176 (GRCm39) probably null Het
Sp1 T A 15: 102,317,365 (GRCm39) S295T probably benign Het
Tas2r104 T A 6: 131,662,094 (GRCm39) H205L probably damaging Het
Tmem69 C G 4: 116,410,388 (GRCm39) G194A probably damaging Het
Unc5c G T 3: 141,509,548 (GRCm39) C676F probably damaging Het
Unkl A G 17: 25,424,687 (GRCm39) N52S probably benign Het
Vmn1r233 T C 17: 21,214,839 (GRCm39) Y37C possibly damaging Het
Vmn1r57 A G 7: 5,223,898 (GRCm39) N141S probably damaging Het
Vmn2r50 T C 7: 9,771,253 (GRCm39) Y816C probably damaging Het
Vmn2r51 T A 7: 9,826,128 (GRCm39) S540C 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
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
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'- TTGGATTACAAACGGGGTGC -3'
(R):5'- ATGGCATGAATACATTTTGGGG -3'

Sequencing Primer
(F):5'- TTACAAACGGGGTGCTATAAACC -3'
(R):5'- AAGACAGGATTTCTCTCTGTAGCC -3'
Posted On 2016-10-24