Incidental Mutation 'R5504:Bsx'
ID 430833
Institutional Source Beutler Lab
Gene Symbol Bsx
Ensembl Gene ENSMUSG00000054360
Gene Name brain specific homeobox
Synonyms Bsx1a, Bsx1b
MMRRC Submission 043065-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5504 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 40785423-40791353 bp(+) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to T at 40785460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067375]
AlphaFold Q810B3
Predicted Effect probably benign
Transcript: ENSMUST00000067375
SMART Domains Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
HOX 110 172 2.64e-26 SMART
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.2%
  • 20x: 90.6%
Validation Efficiency 99% (69/70)
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
Adam34l C T 8: 44,078,319 (GRCm39) C635Y probably damaging Het
Akr1b7 A G 6: 34,396,453 (GRCm39) probably null Het
Amy2a1 T G 3: 113,325,318 (GRCm39) D92A probably benign Het
Angel2 A G 1: 190,676,083 (GRCm39) T455A probably damaging Het
Angptl2 T C 2: 33,119,050 (GRCm39) probably benign Het
Ankrd40 A G 11: 94,219,153 (GRCm39) E25G probably benign Het
Asb18 T A 1: 89,920,746 (GRCm39) D136V probably damaging Het
Asphd1 T C 7: 126,545,350 (GRCm39) I336V possibly damaging Het
Birc6 C T 17: 74,962,208 (GRCm39) P58S probably damaging Het
Cabin1 A G 10: 75,488,843 (GRCm39) L1965P probably benign Het
Capza3 A T 6: 139,988,165 (GRCm39) I255L probably benign Het
Ccdc185 G T 1: 182,575,192 (GRCm39) A499E probably damaging Het
Cfhr4 A T 1: 139,629,558 (GRCm39) S749T probably benign Het
Cmklr1 C G 5: 113,752,990 (GRCm39) D4H possibly damaging Het
Colgalt2 G A 1: 152,276,054 (GRCm39) V56M possibly damaging Het
Dennd1b A T 1: 139,018,246 (GRCm39) T197S probably benign Het
Dhx30 A G 9: 109,914,278 (GRCm39) Y1000H probably benign Het
Dlg2 C T 7: 92,091,865 (GRCm39) A910V probably damaging Het
Dnajb12 GC G 10: 59,728,574 (GRCm39) probably null Het
Dock5 T C 14: 68,040,535 (GRCm39) D884G probably benign Het
Fhad1 A G 4: 141,712,846 (GRCm39) S198P probably benign Het
Gabpa T C 16: 84,649,446 (GRCm39) S218P probably benign Het
Gm17654 A T 14: 43,815,494 (GRCm39) N104K unknown Het
Gm4775 T C 14: 106,338,389 (GRCm39) noncoding transcript Het
Gvin3 T A 7: 106,201,951 (GRCm39) noncoding transcript Het
Heatr1 T A 13: 12,421,500 (GRCm39) S467T possibly damaging Het
Hecw1 A G 13: 14,515,487 (GRCm39) M215T probably benign Het
Hmgn2 A T 4: 133,694,114 (GRCm39) probably benign Het
Kncn T A 4: 115,742,062 (GRCm39) I43N possibly damaging Het
Lgals3bp G T 11: 118,284,811 (GRCm39) T256N probably benign Het
Mpi T C 9: 57,452,500 (GRCm39) D344G probably damaging Het
Myom2 G A 8: 15,178,879 (GRCm39) E1304K probably damaging Het
Npat T A 9: 53,481,564 (GRCm39) F1091I probably benign Het
Nrcam T G 12: 44,610,915 (GRCm39) probably null Het
Or2a7 T A 6: 43,151,572 (GRCm39) Y217* probably null Het
Or4c114 C T 2: 88,905,024 (GRCm39) R137Q probably benign Het
Or56a4 T C 7: 104,806,383 (GRCm39) K169E probably benign Het
Pappa2 A G 1: 158,675,615 (GRCm39) S1044P probably benign Het
Pcnx4 T C 12: 72,621,222 (GRCm39) L1014S probably damaging Het
Pear1 G A 3: 87,660,002 (GRCm39) probably benign Het
Piwil2 T A 14: 70,627,348 (GRCm39) Y797F probably benign Het
Ppp2r1b T G 9: 50,770,187 (GRCm39) L81R probably damaging Het
Pxdn C A 12: 30,052,800 (GRCm39) H812Q probably damaging Het
Rad21l A T 2: 151,510,357 (GRCm39) F33I probably damaging Het
Rgs13 A T 1: 144,015,358 (GRCm39) C120S possibly damaging Het
Rp1 G A 1: 4,420,113 (GRCm39) T333M probably damaging Het
Sema6d T A 2: 124,499,941 (GRCm39) V339E probably damaging Het
Serpina3i T A 12: 104,232,862 (GRCm39) Y256N probably damaging Het
Slc13a1 A T 6: 24,150,743 (GRCm39) M65K possibly damaging Het
Slco6d1 A G 1: 98,349,064 (GRCm39) K45R probably damaging Het
Src T C 2: 157,306,641 (GRCm39) Y215H probably damaging Het
Synj2 T C 17: 6,086,750 (GRCm39) V384A possibly damaging Het
Tmeff1 T C 4: 48,650,396 (GRCm39) S285P probably damaging Het
Vmn2r125 A G 4: 156,703,456 (GRCm39) D278G possibly damaging Het
Vmn2r45 T C 7: 8,486,176 (GRCm39) K371E probably benign Het
Zfp866 A T 8: 70,218,341 (GRCm39) H426Q probably benign 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
R6328:Bsx UTSW 9 40,785,519 (GRCm39) missense probably damaging 1.00
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
Posted On 2016-10-05