Incidental Mutation 'R3120:Bsx'
ID 263176
Institutional Source Beutler Lab
Gene Symbol Bsx
Ensembl Gene ENSMUSG00000054360
Gene Name brain specific homeobox
Synonyms Bsx1a, Bsx1b
MMRRC Submission 040593-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3120 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 40785423-40791353 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40788908 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 155 (K155R)
Ref Sequence ENSEMBL: ENSMUSP00000068057 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067375]
AlphaFold Q810B3
Predicted Effect possibly damaging
Transcript: ENSMUST00000067375
AA Change: K155R

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068057
Gene: ENSMUSG00000054360
AA Change: K155R

DomainStartEndE-ValueType
low complexity region 57 81 N/A INTRINSIC
HOX 110 172 2.64e-26 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccdc39 T C 3: 33,891,987 (GRCm39) K162E probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dnah1 G A 14: 30,988,779 (GRCm39) R3351* probably null Het
Eml1 A G 12: 108,479,312 (GRCm39) R362G probably benign Het
Fam222b T C 11: 78,044,742 (GRCm39) L101P probably damaging Het
Fars2 A G 13: 36,430,400 (GRCm39) E276G probably damaging Het
Gatad1 G T 5: 3,691,456 (GRCm39) Y33* probably null Het
Gclc A C 9: 77,688,552 (GRCm39) E219A possibly damaging Het
Gm4846 A G 1: 166,319,117 (GRCm39) V207A probably benign Het
H1f5 A T 13: 21,964,215 (GRCm39) S170R probably benign Het
Hbq1a T C 11: 32,250,472 (GRCm39) L87P probably damaging Het
Magea6 A T X: 153,707,291 (GRCm39) I255N probably benign Het
Mfsd12 T G 10: 81,197,049 (GRCm39) V206G probably benign Het
Mis18bp1 T C 12: 65,203,762 (GRCm39) probably null Het
Nf1 C A 11: 79,455,725 (GRCm39) T550K probably damaging Het
Nlrp4f T C 13: 65,342,530 (GRCm39) T372A probably benign Het
Or5p70 T C 7: 107,994,930 (GRCm39) I201T possibly damaging Het
Pkdcc T C 17: 83,527,466 (GRCm39) Y215H probably damaging Het
Plekha5 A G 6: 140,537,367 (GRCm39) T253A probably benign Het
Polr2f T A 15: 79,028,788 (GRCm39) probably null Het
Prph2 C T 17: 47,234,298 (GRCm39) A289V possibly damaging Het
Ptdss2 C T 7: 140,732,132 (GRCm39) H140Y probably damaging Het
Rlf T A 4: 121,006,680 (GRCm39) I877L probably benign Het
Scgb2b2 T C 7: 31,003,001 (GRCm39) L32S possibly damaging Het
Sfpq T A 4: 126,915,926 (GRCm39) H239Q unknown Het
St6gal2 A T 17: 55,789,111 (GRCm39) R48S probably benign Het
Sybu T C 15: 44,536,355 (GRCm39) D657G possibly damaging Het
Syt15 A G 14: 33,944,950 (GRCm39) I166V probably benign Het
Taar7f C A 10: 23,925,478 (GRCm39) T24K probably benign Het
Tbcd T C 11: 121,499,474 (GRCm39) S1093P probably damaging Het
Tfap2c G A 2: 172,399,015 (GRCm39) V396M possibly damaging Het
Tnxb C T 17: 34,911,329 (GRCm39) T1544I possibly damaging Het
Trim28 A G 7: 12,762,341 (GRCm39) T322A probably damaging Het
Tubgcp3 G A 8: 12,707,626 (GRCm39) A121V possibly damaging Het
Vmn2r14 A T 5: 109,372,431 (GRCm39) W20R probably null Het
Zfp551 A G 7: 12,149,943 (GRCm39) F489L 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
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
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
Predicted Primers PCR Primer
(F):5'- AATTACCATTGACCCTTGCCAC -3'
(R):5'- TCAGTAAGCACGAAGGCAC -3'

Sequencing Primer
(F):5'- GGGGCAATATCTCCTAGAATTTAGCC -3'
(R):5'- AGCACGAGGGCTGCCTTCGGGGCTCT -3'
Posted On 2015-02-05