Incidental Mutation 'R9097:Bsx'
ID 691422
Institutional Source Beutler Lab
Gene Symbol Bsx
Ensembl Gene ENSMUSG00000054360
Gene Name brain specific homeobox
Synonyms Bsx1a, Bsx1b
MMRRC Submission 068912-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9097 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 40785423-40791353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 40785636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Cysteine at position 55 (G55C)
Ref Sequence ENSEMBL: ENSMUSP00000068057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067375]
AlphaFold Q810B3
Predicted Effect probably damaging
Transcript: ENSMUST00000067375
AA Change: G55C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360
AA Change: G55C

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
HOX 110 172 2.64e-26 SMART
Meta Mutation Damage Score 0.1967 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.1%
Validation Efficiency 96% (50/52)
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
Antxrl G A 14: 33,793,660 (GRCm39) V463I probably benign Het
Aox1 T A 1: 58,326,887 (GRCm39) L162Q possibly damaging Het
Arhgap40 A T 2: 158,389,584 (GRCm39) M586L probably benign Het
Arnt G T 3: 95,397,588 (GRCm39) S535I probably benign Het
Ccdc168 T C 1: 44,098,049 (GRCm39) I1016M possibly damaging Het
Col9a1 A T 1: 24,224,207 (GRCm39) I130F unknown Het
Cyp51 G T 5: 4,149,172 (GRCm39) T235N possibly damaging Het
Depdc1a T A 3: 159,204,117 (GRCm39) D55E probably benign Het
Dlc1 A T 8: 37,080,721 (GRCm39) I10N probably benign Het
Dzank1 G T 2: 144,316,882 (GRCm39) L767I possibly damaging Het
Eif3k A T 7: 28,671,660 (GRCm39) *193K probably null Het
Eprs1 C A 1: 185,139,303 (GRCm39) A896E probably benign Het
Evc2 T A 5: 37,550,505 (GRCm39) F840I possibly damaging Het
Fut2 G T 7: 45,300,375 (GRCm39) H132Q probably benign Het
Gbp11 T C 5: 105,474,347 (GRCm39) *443W probably null Het
Gimd1 T A 3: 132,340,661 (GRCm39) M59K probably benign Het
Glis2 A G 16: 4,429,640 (GRCm39) T228A probably damaging Het
Gm21663 G C 5: 26,147,167 (GRCm39) C46W probably benign Het
Gpr162 A G 6: 124,836,570 (GRCm39) I367T probably benign Het
Grik1 G A 16: 87,732,796 (GRCm39) T692I Het
Igf2r G T 17: 12,910,100 (GRCm39) A2043D probably damaging Het
Il12b C A 11: 44,301,107 (GRCm39) L208M probably benign Het
Il12b T A 11: 44,301,108 (GRCm39) L208Q probably damaging Het
Lrrk2 C T 15: 91,557,459 (GRCm39) probably benign Het
Map3k9 T C 12: 81,819,855 (GRCm39) D133G possibly damaging Het
Mrc2 A G 11: 105,231,398 (GRCm39) D777G probably damaging Het
Mtrr A G 13: 68,723,441 (GRCm39) L157P probably benign Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Nsmaf CAAACTTTTAAACTT CAAACTT 4: 6,416,543 (GRCm39) probably null Het
Or4f7 T A 2: 111,644,196 (GRCm39) K292* probably null Het
Or51f23c-ps1 A G 7: 102,431,475 (GRCm39) H264R probably damaging Het
Or5p73 A T 7: 108,064,815 (GRCm39) I95F probably damaging Het
Or6c7 T A 10: 129,323,647 (GRCm39) M256K possibly damaging Het
Or7g22 G A 9: 19,048,670 (GRCm39) C127Y probably damaging Het
Or9g8 T A 2: 85,607,669 (GRCm39) V247E probably damaging Het
Pkn2 C T 3: 142,515,249 (GRCm39) R695Q probably benign Het
Ppp1r9a A G 6: 4,906,012 (GRCm39) D189G probably damaging Het
Prkca A G 11: 107,905,061 (GRCm39) S226P probably benign Het
Ptpru T C 4: 131,499,843 (GRCm39) N1267S probably damaging Het
Retnlb T A 16: 48,638,980 (GRCm39) probably benign Het
Rrp12 A T 19: 41,878,577 (GRCm39) D189E probably benign Het
Serpinb7 G A 1: 107,377,907 (GRCm39) C200Y probably damaging Het
Sez6 G A 11: 77,865,121 (GRCm39) E623K possibly damaging Het
Stk32a A T 18: 43,446,497 (GRCm39) M316L possibly damaging Het
Supt6 G T 11: 78,113,100 (GRCm39) H948N probably benign Het
Sycp2l A T 13: 41,300,070 (GRCm39) D428V possibly damaging Het
Tasp1 A T 2: 139,725,690 (GRCm39) probably null Het
Telo2 T C 17: 25,324,066 (GRCm39) T550A probably benign Het
Tmem131l A T 3: 83,850,122 (GRCm39) N225K probably damaging Het
Tnc T C 4: 63,888,622 (GRCm39) T1724A possibly damaging Het
Tyk2 C A 9: 21,020,072 (GRCm39) E1029* probably null Het
Uhmk1 C T 1: 170,042,879 (GRCm39) probably benign Het
Vav2 G A 2: 27,181,850 (GRCm39) R330W probably damaging Het
Vmn1r16 A T 6: 57,300,250 (GRCm39) I124N probably benign Het
Vmn1r181 A G 7: 23,684,444 (GRCm39) N303S probably benign Het
Vmn1r50 G A 6: 90,085,022 (GRCm39) V256I 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
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
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'- GCTCTGCAAGATGAATCTCAAC -3'
(R):5'- CAAGGGAGCTCTCAACCATGTC -3'

Sequencing Primer
(F):5'- TCTGCAAGATGAATCTCAACTTCAC -3'
(R):5'- CCCTTATGCAGAGGATGA -3'
Posted On 2021-12-30