Incidental Mutation 'IGL03295:Bsx'
ID 416069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bsx
Ensembl Gene ENSMUSG00000054360
Gene Name brain specific homeobox
Synonyms Bsx1a, Bsx1b
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03295
Quality Score
Status
Chromosome 9
Chromosomal Location 40785423-40791353 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 40785743 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
Validation Efficiency
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A T 5: 99,390,915 (GRCm39) probably benign Het
Adamts5 T C 16: 85,674,833 (GRCm39) T444A probably damaging Het
Aldh18a1 T C 19: 40,551,386 (GRCm39) E522G probably damaging Het
Bbx T C 16: 50,044,927 (GRCm39) T437A probably damaging Het
Cdc42bpa A G 1: 179,977,769 (GRCm39) N729S probably benign Het
Cdk1 G T 10: 69,178,373 (GRCm39) H162Q possibly damaging Het
Chrac1 A G 15: 72,965,445 (GRCm39) probably benign Het
Cip2a T C 16: 48,814,704 (GRCm39) S22P probably damaging Het
Ddx60 A T 8: 62,409,155 (GRCm39) D397V possibly damaging Het
Edn2 T A 4: 120,019,178 (GRCm39) C56S probably damaging Het
Gm4952 T C 19: 12,595,691 (GRCm39) V27A probably benign Het
Herc1 T A 9: 66,303,985 (GRCm39) S763T possibly damaging Het
Hspd1 G A 1: 55,119,334 (GRCm39) T381I probably benign Het
Krt1c T A 15: 101,724,864 (GRCm39) I249F probably damaging Het
Lman2l T C 1: 36,477,892 (GRCm39) D148G probably damaging Het
Lrp1b C T 2: 40,568,999 (GRCm39) probably null Het
Mier3 C A 13: 111,840,215 (GRCm39) T51K probably benign Het
Ppp1r36 C T 12: 76,485,192 (GRCm39) P305L probably damaging Het
Pramel27 G A 4: 143,579,759 (GRCm39) C448Y probably damaging Het
Prdm1 T C 10: 44,315,866 (GRCm39) I790V probably damaging Het
Sephs2 T C 7: 126,871,941 (GRCm39) E384G possibly damaging Het
Sipa1l1 T A 12: 82,479,714 (GRCm39) W1466R probably damaging Het
Snai2 T C 16: 14,524,638 (GRCm39) L48P possibly damaging Het
Stt3a A G 9: 36,674,627 (GRCm39) probably null Het
Synj1 T A 16: 90,735,318 (GRCm39) N1545I probably benign Het
Vav2 A T 2: 27,165,041 (GRCm39) S607T possibly damaging Het
Wdr27 T C 17: 15,154,837 (GRCm39) K27E possibly damaging Het
Xcl1 A T 1: 164,763,004 (GRCm39) V19E unknown Het
Xlr3c A T X: 72,301,240 (GRCm39) probably null Het
Zbtb44 T A 9: 30,964,753 (GRCm39) D54E probably benign Het
Zscan21 A G 5: 138,123,540 (GRCm39) D73G possibly 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
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
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
Posted On 2016-08-02