Incidental Mutation 'R1147:Tox'
ID 102477
Institutional Source Beutler Lab
Gene Symbol Tox
Ensembl Gene ENSMUSG00000041272
Gene Name thymocyte selection-associated high mobility group box
Synonyms 1700007F02Rik
MMRRC Submission 039220-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1147 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 6686353-6991557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6823055 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 87 (N87K)
Ref Sequence ENSEMBL: ENSMUSP00000037966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039987]
AlphaFold Q66JW3
PDB Structure Solution structure of the HMG_box domain of thymus high mobility group box protein TOX from mouse [SOLUTION NMR]
Predicted Effect possibly damaging
Transcript: ENSMUST00000039987
AA Change: N87K

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: N87K

DomainStartEndE-ValueType
low complexity region 7 19 N/A INTRINSIC
low complexity region 204 220 N/A INTRINSIC
HMG 260 330 1.11e-19 SMART
low complexity region 416 439 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150082
Meta Mutation Damage Score 0.1035 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 97.7%
  • 10x: 89.5%
  • 20x: 66.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele have a severe block in thymic positive selection leading to loss of CD4 T lineage cells, and display decreased NK cell numbers, severely reduced numbers of lymphoid tissue inducer cells, absence of all peripheral lymph nodes, and loss of Peyer's patches. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam20 T C 8: 41,248,655 (GRCm39) I255T possibly damaging Het
Aknad1 T A 3: 108,659,857 (GRCm39) N290K possibly damaging Het
Ano8 C A 8: 71,934,661 (GRCm39) V447F probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Ash1l A T 3: 88,892,194 (GRCm39) M1358L possibly damaging Het
Ccdc110 A G 8: 46,397,121 (GRCm39) K837E possibly damaging Het
Cd19 T A 7: 126,010,217 (GRCm39) D384V possibly damaging Het
Ces1f C T 8: 93,984,909 (GRCm39) V473I possibly damaging Het
Chd6 C T 2: 160,832,191 (GRCm39) E994K probably damaging Het
Col5a2 G T 1: 45,415,931 (GRCm39) N1405K probably damaging Het
Dnah7b A G 1: 46,379,426 (GRCm39) D3720G probably damaging Het
Dsel T C 1: 111,789,939 (GRCm39) T199A possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Flacc1 A T 1: 58,708,622 (GRCm39) Y215N probably damaging Het
Hrg G T 16: 22,779,754 (GRCm39) C344F probably damaging Het
Htt T C 5: 35,008,596 (GRCm39) Y1462H probably damaging Het
Kcnh2 T A 5: 24,529,385 (GRCm39) I784F probably damaging Het
Kifc3 T C 8: 95,864,546 (GRCm39) T55A probably damaging Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Oog3 A G 4: 143,884,982 (GRCm39) F318S possibly damaging Het
Or2a20 A T 6: 43,194,146 (GRCm39) T100S probably damaging Het
Or52w1 G A 7: 105,018,484 (GRCm39) R308Q probably benign Het
Pde5a C T 3: 122,587,962 (GRCm39) T376M probably damaging Het
Pkhd1l1 A G 15: 44,400,837 (GRCm39) I2204V probably null Het
Ppp1r13l A G 7: 19,109,772 (GRCm39) D731G probably damaging Het
Ptk6 C T 2: 180,837,590 (GRCm39) G443D probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Ptprs T C 17: 56,730,504 (GRCm39) D749G probably damaging Het
Ralgapa1 A T 12: 55,749,265 (GRCm39) D1212E probably damaging Het
Rsad1 T C 11: 94,434,966 (GRCm39) Y290C probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Slc6a11 T A 6: 114,221,831 (GRCm39) I507N possibly damaging Het
Sp140l1 C G 1: 85,077,226 (GRCm39) K113N probably benign Het
Sybu A T 15: 44,609,651 (GRCm39) F78I probably damaging Het
Trrap G A 5: 144,741,576 (GRCm39) G1308R probably damaging Het
Trub2 A G 2: 29,677,644 (GRCm39) probably benign Het
Vmn2r114 A T 17: 23,530,037 (GRCm39) H123Q probably benign Het
Vmn2r15 T A 5: 109,441,072 (GRCm39) Y262F probably damaging Het
Vmn2r33 C T 7: 7,557,144 (GRCm39) E519K probably benign Het
Zfp106 A T 2: 120,351,017 (GRCm39) C1545S probably damaging Het
Other mutations in Tox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Tox APN 4 6,697,583 (GRCm39) missense probably damaging 0.99
IGL01481:Tox APN 4 6,842,396 (GRCm39) missense probably damaging 0.99
IGL01600:Tox APN 4 6,697,585 (GRCm39) missense probably damaging 0.98
IGL01616:Tox APN 4 6,688,430 (GRCm39) missense probably damaging 0.99
IGL02160:Tox APN 4 6,711,537 (GRCm39) missense probably damaging 0.99
IGL02390:Tox APN 4 6,697,534 (GRCm39) missense possibly damaging 0.90
IGL03243:Tox APN 4 6,697,597 (GRCm39) missense possibly damaging 0.76
R0008:Tox UTSW 4 6,842,411 (GRCm39) missense probably benign 0.41
R0008:Tox UTSW 4 6,842,411 (GRCm39) missense probably benign 0.41
R1147:Tox UTSW 4 6,823,055 (GRCm39) missense possibly damaging 0.74
R1159:Tox UTSW 4 6,697,600 (GRCm39) missense probably benign 0.37
R1903:Tox UTSW 4 6,688,948 (GRCm39) missense probably damaging 0.99
R1961:Tox UTSW 4 6,688,886 (GRCm39) missense probably damaging 0.96
R2484:Tox UTSW 4 6,688,886 (GRCm39) missense probably damaging 0.96
R3692:Tox UTSW 4 6,697,535 (GRCm39) missense probably benign 0.05
R4072:Tox UTSW 4 6,842,396 (GRCm39) missense probably damaging 0.99
R4635:Tox UTSW 4 6,990,501 (GRCm39) utr 5 prime probably benign
R4815:Tox UTSW 4 6,823,033 (GRCm39) missense probably benign
R5099:Tox UTSW 4 6,688,958 (GRCm39) missense probably benign 0.28
R5421:Tox UTSW 4 6,842,409 (GRCm39) missense possibly damaging 0.79
R5537:Tox UTSW 4 6,697,510 (GRCm39) missense probably damaging 1.00
R5630:Tox UTSW 4 6,688,835 (GRCm39) small insertion probably benign
R5883:Tox UTSW 4 6,697,444 (GRCm39) missense probably benign
R6351:Tox UTSW 4 6,741,536 (GRCm39) missense probably benign 0.11
R6351:Tox UTSW 4 6,697,439 (GRCm39) missense probably benign
R6448:Tox UTSW 4 6,822,975 (GRCm39) missense probably benign 0.08
R6934:Tox UTSW 4 6,697,635 (GRCm39) missense probably damaging 0.98
R7513:Tox UTSW 4 6,741,507 (GRCm39) missense probably benign
R7915:Tox UTSW 4 6,822,949 (GRCm39) missense probably benign
R8223:Tox UTSW 4 6,842,408 (GRCm39) missense probably damaging 1.00
R8766:Tox UTSW 4 6,823,047 (GRCm39) missense probably damaging 0.99
R9702:Tox UTSW 4 6,697,418 (GRCm39) missense probably benign 0.02
Z1088:Tox UTSW 4 6,688,450 (GRCm39) missense probably damaging 1.00
Z1176:Tox UTSW 4 6,990,629 (GRCm39) start gained probably benign
Predicted Primers
Posted On 2014-01-15