Incidental Mutation 'R7629:Brox'
ID 589526
Institutional Source Beutler Lab
Gene Symbol Brox
Ensembl Gene ENSMUSG00000046836
Gene Name BRO1 domain and CAAX motif containing
Synonyms 0610010K06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.087) question?
Stock # R7629 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 183057916-183078813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 183074068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 60 (A60V)
Ref Sequence ENSEMBL: ENSMUSP00000061345 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057062] [ENSMUST00000109166] [ENSMUST00000163528] [ENSMUST00000192829] [ENSMUST00000193625] [ENSMUST00000194327] [ENSMUST00000195054]
AlphaFold Q8K2Q7
Predicted Effect probably damaging
Transcript: ENSMUST00000057062
AA Change: A60V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000061345
Gene: ENSMUSG00000046836
AA Change: A60V

DomainStartEndE-ValueType
BRO1 4 384 1.74e-92 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109166
SMART Domains Protein: ENSMUSP00000104795
Gene: ENSMUSG00000042901

DomainStartEndE-ValueType
Pfam:Aida_N 9 112 1.9e-43 PFAM
low complexity region 122 144 N/A INTRINSIC
Pfam:Aida_C2 155 300 2.4e-68 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163528
AA Change: A60V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132333
Gene: ENSMUSG00000046836
AA Change: A60V

DomainStartEndE-ValueType
PDB:3ZXP|C 1 101 5e-63 PDB
Blast:BRO1 4 101 1e-67 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000192829
AA Change: A60V

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000141585
Gene: ENSMUSG00000046836
AA Change: A60V

DomainStartEndE-ValueType
PDB:3ZXP|C 1 91 4e-55 PDB
Blast:BRO1 4 91 9e-59 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000193625
SMART Domains Protein: ENSMUSP00000141649
Gene: ENSMUSG00000042901

DomainStartEndE-ValueType
Pfam:Aida_N 8 113 2.3e-49 PFAM
low complexity region 122 144 N/A INTRINSIC
Pfam:Aida_C2 145 219 6.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000194327
Predicted Effect probably benign
Transcript: ENSMUST00000195054
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik G A 16: 88,504,293 (GRCm39) T168I probably benign Het
Abtb2 T A 2: 103,513,838 (GRCm39) probably null Het
Ankrd10 A T 8: 11,665,769 (GRCm39) V277E probably benign Het
Ankrd28 C T 14: 31,437,221 (GRCm39) V615I probably benign Het
Aqr G A 2: 113,945,074 (GRCm39) P1079L probably damaging Het
Copg1 T C 6: 87,871,151 (GRCm39) V289A possibly damaging Het
Cplane1 C T 15: 8,256,551 (GRCm39) Q2004* probably null Het
Dido1 T C 2: 180,303,266 (GRCm39) N1546S probably benign Het
Dlg5 G A 14: 24,295,280 (GRCm39) P80L probably damaging Het
Dmxl1 T A 18: 49,992,337 (GRCm39) I361N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fhod3 T A 18: 24,887,374 (GRCm39) D88E probably benign Het
Flywch1 A G 17: 23,974,744 (GRCm39) M632T probably benign Het
Henmt1 A G 3: 108,865,913 (GRCm39) T213A probably benign Het
Itga9 T C 9: 118,527,514 (GRCm39) V555A probably benign Het
Katnip T C 7: 125,394,422 (GRCm39) L192P probably damaging Het
Kif13b C T 14: 65,016,784 (GRCm39) R1317* probably null Het
Kndc1 A T 7: 139,475,176 (GRCm39) E25V probably damaging Het
Lingo2 T A 4: 35,708,675 (GRCm39) D435V possibly damaging Het
Lrrc14b T A 13: 74,509,283 (GRCm39) M375L probably benign Het
Lrrtm2 T C 18: 35,347,310 (GRCm39) probably null Het
Mgat4c G A 10: 102,224,931 (GRCm39) V382I probably benign Het
Muc16 T C 9: 18,478,081 (GRCm39) T7075A possibly damaging Het
Myo5b T A 18: 74,760,325 (GRCm39) probably null Het
Neb T C 2: 52,163,973 (GRCm39) D1995G possibly damaging Het
Nudt9 T C 5: 104,198,560 (GRCm39) V75A possibly damaging Het
Or4k35 C T 2: 111,100,221 (GRCm39) V164I probably benign Het
Paf1 T C 7: 28,094,493 (GRCm39) Y35H probably damaging Het
Pals2 T C 6: 50,173,603 (GRCm39) I489T probably benign Het
Panx3 T A 9: 37,572,740 (GRCm39) Q270L possibly damaging Het
Pde6h G T 6: 136,936,317 (GRCm39) R20L possibly damaging Het
Pdxk A G 10: 78,280,840 (GRCm39) I200T probably benign Het
Ppara A T 15: 85,682,392 (GRCm39) M363L probably damaging Het
Prmt8 A T 6: 127,666,846 (GRCm39) L376* probably null Het
Serpina1a G C 12: 103,820,067 (GRCm39) T393R probably damaging Het
Sfxn1 C T 13: 54,247,041 (GRCm39) R178C probably damaging Het
Sirpb1c A T 3: 15,902,559 (GRCm39) W7R possibly damaging Het
Skint5 T C 4: 113,799,857 (GRCm39) Y104C probably damaging Het
Slamf6 A T 1: 171,764,191 (GRCm39) T195S probably damaging Het
Slc2a6 T C 2: 26,914,214 (GRCm39) D301G probably benign Het
Stab2 A T 10: 86,719,646 (GRCm39) probably null Het
Tctn3 C G 19: 40,599,780 (GRCm39) D141H probably damaging Het
Tnik A G 3: 28,715,877 (GRCm39) N1164D probably damaging Het
Tpcn1 C T 5: 120,676,002 (GRCm39) V711I probably benign Het
Trim11 G A 11: 58,869,160 (GRCm39) G32D probably damaging Het
Usp32 TTTGGTTG TTTG 11: 84,910,681 (GRCm39) probably null Het
Vmn1r72 T C 7: 11,403,711 (GRCm39) I246V probably benign Het
Zfp362 G T 4: 128,679,848 (GRCm39) R273S probably damaging Het
Zfp715 T C 7: 42,951,100 (GRCm39) D66G possibly damaging Het
Zftraf1 C T 15: 76,532,386 (GRCm39) D241N probably benign 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
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
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'- CGGAATGACACTTCTGGTACC -3'
(R):5'- GCTTTTGACAAGAAGGTAGCGG -3'

Sequencing Primer
(F):5'- GGAATGACACTTCTGGTACCGTTTTC -3'
(R):5'- TTTGACAAGAAGGTAGCGGGATCTG -3'
Posted On 2019-10-24