Incidental Mutation 'R6328:Bsx'
ID 510813
Institutional Source Beutler Lab
Gene Symbol Bsx
Ensembl Gene ENSMUSG00000054360
Gene Name brain specific homeobox
Synonyms Bsx1a, Bsx1b
MMRRC Submission 044482-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6328 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40785423-40791353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 40785519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 16 (R16W)
Ref Sequence ENSEMBL: ENSMUSP00000068057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067375]
AlphaFold Q810B3
Predicted Effect probably damaging
Transcript: ENSMUST00000067375
AA Change: R16W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360
AA Change: R16W

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
HOX 110 172 2.64e-26 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency 98% (57/58)
MGI Phenotype PHENOTYPE: Mice homozygous for mutations in Bsx display increased fat mass, decreased food intake after fasting, decreased body temperature, and reduced locomotor activity, but body weight and glucose homoeostasis are similar to wild-type. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abat C T 16: 8,420,300 (GRCm39) probably benign Het
Abcb10 G A 8: 124,688,756 (GRCm39) R507W probably damaging Het
Actg1 T C 11: 120,238,586 (GRCm39) D80G possibly damaging Het
Actr5 A G 2: 158,477,264 (GRCm39) D405G possibly damaging Het
Ahnak C T 19: 8,984,512 (GRCm39) T1932I probably benign Het
Ankk1 T A 9: 49,327,371 (GRCm39) T603S possibly damaging Het
Atp13a3 A T 16: 30,155,053 (GRCm39) F964I probably damaging Het
Atp6v1g3 A G 1: 138,215,570 (GRCm39) T77A probably benign Het
Bccip A G 7: 133,319,503 (GRCm39) H198R probably damaging Het
Ccdc88b C T 19: 6,826,406 (GRCm39) R1103Q probably damaging Het
Cd59a A C 2: 103,941,103 (GRCm39) Y27S probably damaging Het
Cdk20 A G 13: 64,584,413 (GRCm39) H162R probably damaging Het
Col6a2 C T 10: 76,450,212 (GRCm39) E240K possibly damaging Het
Ddr2 A G 1: 169,814,634 (GRCm39) V603A possibly damaging Het
Dgkz A G 2: 91,772,980 (GRCm39) V359A probably benign Het
Dis3l2 T A 1: 86,782,153 (GRCm39) S223T probably benign Het
Dpysl4 A G 7: 138,679,734 (GRCm39) S535G probably benign Het
Dsp A T 13: 38,380,982 (GRCm39) K1977* probably null Het
Dync2h1 A T 9: 7,165,717 (GRCm39) S515T probably benign Het
Epg5 A G 18: 78,072,179 (GRCm39) E2397G possibly damaging Het
Fam83d G A 2: 158,627,096 (GRCm39) G262S probably damaging Het
Frmd4a A T 2: 4,595,509 (GRCm39) T477S probably damaging Het
Gbp3 A G 3: 142,274,819 (GRCm39) E382G probably benign Het
Gltp A T 5: 114,808,572 (GRCm39) C157S possibly damaging Het
Grb10 A G 11: 11,887,905 (GRCm39) S378P probably damaging Het
Gulo G T 14: 66,240,080 (GRCm39) T126K probably damaging Het
H2-M10.6 T A 17: 37,124,836 (GRCm39) M251K probably damaging Het
Hecw1 T C 13: 14,422,205 (GRCm39) D967G possibly damaging Het
Htr3b A T 9: 48,858,933 (GRCm39) D68E probably damaging Het
Igkv5-39 G T 6: 69,877,489 (GRCm39) S89* probably null Het
Kctd4 C A 14: 76,200,037 (GRCm39) probably benign Het
Lmna T C 3: 88,393,813 (GRCm39) Q255R probably damaging Het
Lsmem1 A G 12: 40,230,656 (GRCm39) I82T possibly damaging Het
Lyg2 T A 1: 37,950,194 (GRCm39) M45L probably benign Het
Myo5b G A 18: 74,750,064 (GRCm39) A176T probably damaging Het
Nudt5 A T 2: 5,869,248 (GRCm39) K158I possibly damaging Het
Nufip1 C T 14: 76,348,494 (GRCm39) P41L possibly damaging Het
Or4f14b A T 2: 111,775,739 (GRCm39) W21R probably null Het
Or52z13 A T 7: 103,247,073 (GRCm39) E183D probably damaging Het
Pcp2 T C 8: 3,674,887 (GRCm39) D22G probably damaging Het
Pdk2 G C 11: 94,930,228 (GRCm39) N69K possibly damaging Het
Pdlim7 G T 13: 55,655,905 (GRCm39) probably benign Het
Ptprc C A 1: 138,041,416 (GRCm39) E148* probably null Het
Rassf5 A T 1: 131,108,405 (GRCm39) V225E probably damaging Het
Rbm6 A T 9: 107,664,458 (GRCm39) M725K probably benign Het
Scn1a T A 2: 66,103,660 (GRCm39) I1867F probably damaging Het
Sdk2 T A 11: 113,684,581 (GRCm39) Q1960L probably damaging Het
Setx A G 2: 29,064,474 (GRCm39) probably benign Het
Sgo2b T A 8: 64,381,345 (GRCm39) R496* probably null Het
Slco1a1 C T 6: 141,878,176 (GRCm39) V222I probably damaging Het
Sntg2 A C 12: 30,308,013 (GRCm39) L224R probably damaging Het
Syt16 C A 12: 74,313,467 (GRCm39) C464* probably null Het
Tapbpl T A 6: 125,201,881 (GRCm39) S420C probably benign Het
Tax1bp1 A G 6: 52,723,694 (GRCm39) E528G probably benign Het
Tmem168 T C 6: 13,602,710 (GRCm39) T219A probably benign Het
Zfp180 T C 7: 23,804,981 (GRCm39) F467L probably damaging Het
Other mutations in Bsx
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02318:Bsx APN 9 40,785,517 (GRCm39) missense probably benign 0.00
IGL02510:Bsx APN 9 40,785,517 (GRCm39) missense possibly damaging 0.49
IGL03295:Bsx APN 9 40,785,743 (GRCm39) splice site probably benign
R0507:Bsx UTSW 9 40,787,796 (GRCm39) splice site probably benign
R0686:Bsx UTSW 9 40,787,733 (GRCm39) missense probably damaging 1.00
R3120:Bsx UTSW 9 40,788,908 (GRCm39) missense possibly damaging 0.95
R4155:Bsx UTSW 9 40,787,632 (GRCm39) missense probably benign 0.04
R5504:Bsx UTSW 9 40,785,460 (GRCm39) start gained probably benign
R8695:Bsx UTSW 9 40,785,484 (GRCm39) missense probably damaging 1.00
R9097:Bsx UTSW 9 40,785,636 (GRCm39) missense probably damaging 1.00
R9790:Bsx UTSW 9 40,788,905 (GRCm39) missense probably damaging 1.00
R9791:Bsx UTSW 9 40,788,905 (GRCm39) missense probably damaging 1.00
X0027:Bsx UTSW 9 40,789,069 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TATAGCTGCCGGGATCTGAG -3'
(R):5'- GCCTCTGTTACTTACCTGAGG -3'

Sequencing Primer
(F):5'- GGGATCTGAGCCTGGGC -3'
(R):5'- CTCCCTTATGCAGAGGATGATGAGC -3'
Posted On 2018-04-02