Incidental Mutation 'R1147:Tox'
ID102477
Institutional Source Beutler Lab
Gene Symbol Tox
Ensembl Gene ENSMUSG00000041272
Gene Namethymocyte selection-associated high mobility group box
Synonyms1700007F02Rik
MMRRC Submission 039220-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R1147 (G1)
Quality Score225
Status Not validated
Chromosome4
Chromosomal Location6686353-6991557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 6823055 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 87 (N87K)
Ref Sequence ENSEMBL: ENSMUSP00000037966 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039987]
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
A530032D15Rik C G 1: 85,099,505 K113N probably benign Het
Adam20 T C 8: 40,795,618 I255T possibly damaging Het
Aknad1 T A 3: 108,752,541 N290K possibly damaging Het
Als2cr12 A T 1: 58,669,463 Y215N probably damaging Het
Ano8 C A 8: 71,482,017 V447F probably damaging Het
Arsi G A 18: 60,916,651 G202E probably benign Het
Ash1l A T 3: 88,984,887 M1358L possibly damaging Het
Ccdc110 A G 8: 45,944,084 K837E possibly damaging Het
Cd19 T A 7: 126,411,045 D384V possibly damaging Het
Ces1f C T 8: 93,258,281 V473I possibly damaging Het
Chd6 C T 2: 160,990,271 E994K probably damaging Het
Col5a2 G T 1: 45,376,771 N1405K probably damaging Het
Dnah7b A G 1: 46,340,266 D3720G probably damaging Het
Dsel T C 1: 111,862,209 T199A possibly damaging Het
Fabp3 C T 4: 130,312,387 T57I probably benign Het
Hrg G T 16: 22,961,004 C344F probably damaging Het
Htt T C 5: 34,851,252 Y1462H probably damaging Het
Kcnh2 T A 5: 24,324,387 I784F probably damaging Het
Kifc3 T C 8: 95,137,918 T55A probably damaging Het
Kirrel C T 3: 87,089,151 M380I probably null Het
Olfr434 A T 6: 43,217,212 T100S probably damaging Het
Olfr692 G A 7: 105,369,277 R308Q probably benign Het
Oog3 A G 4: 144,158,412 F318S possibly damaging Het
Pde5a C T 3: 122,794,313 T376M probably damaging Het
Pkhd1l1 A G 15: 44,537,441 I2204V probably null Het
Ppp1r13l A G 7: 19,375,847 D731G probably damaging Het
Ptk6 C T 2: 181,195,797 G443D probably benign Het
Ptpro T A 6: 137,443,594 V1007D probably damaging Het
Ptprs T C 17: 56,423,504 D749G probably damaging Het
Ralgapa1 A T 12: 55,702,480 D1212E probably damaging Het
Rsad1 T C 11: 94,544,140 Y290C probably damaging Het
Sfi1 CCTCTC CCTCTCTC 11: 3,177,419 probably benign Het
Slc6a11 T A 6: 114,244,870 I507N possibly damaging Het
Sybu A T 15: 44,746,255 F78I probably damaging Het
Trrap G A 5: 144,804,766 G1308R probably damaging Het
Trub2 A G 2: 29,787,632 probably benign Het
Vmn2r114 A T 17: 23,311,063 H123Q probably benign Het
Vmn2r15 T A 5: 109,293,206 Y262F probably damaging Het
Vmn2r33 C T 7: 7,554,145 E519K probably benign Het
Zfp106 A T 2: 120,520,536 C1545S probably damaging Het
Other mutations in Tox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Tox APN 4 6697583 missense probably damaging 0.99
IGL01481:Tox APN 4 6842396 missense probably damaging 0.99
IGL01600:Tox APN 4 6697585 missense probably damaging 0.98
IGL01616:Tox APN 4 6688430 missense probably damaging 0.99
IGL02160:Tox APN 4 6711537 missense probably damaging 0.99
IGL02390:Tox APN 4 6697534 missense possibly damaging 0.90
IGL03243:Tox APN 4 6697597 missense possibly damaging 0.76
R0008:Tox UTSW 4 6842411 missense probably benign 0.41
R0008:Tox UTSW 4 6842411 missense probably benign 0.41
R1147:Tox UTSW 4 6823055 missense possibly damaging 0.74
R1159:Tox UTSW 4 6697600 missense probably benign 0.37
R1903:Tox UTSW 4 6688948 missense probably damaging 0.99
R1961:Tox UTSW 4 6688886 missense probably damaging 0.96
R2484:Tox UTSW 4 6688886 missense probably damaging 0.96
R3692:Tox UTSW 4 6697535 missense probably benign 0.05
R4072:Tox UTSW 4 6842396 missense probably damaging 0.99
R4635:Tox UTSW 4 6990501 utr 5 prime probably benign
R4815:Tox UTSW 4 6823033 missense probably benign
R5099:Tox UTSW 4 6688958 missense probably benign 0.28
R5421:Tox UTSW 4 6842409 missense possibly damaging 0.79
R5537:Tox UTSW 4 6697510 missense probably damaging 1.00
R5630:Tox UTSW 4 6688835 small insertion probably benign
R5883:Tox UTSW 4 6697444 missense probably benign
R6351:Tox UTSW 4 6697439 missense probably benign
R6351:Tox UTSW 4 6741536 missense probably benign 0.11
R6448:Tox UTSW 4 6822975 missense probably benign 0.08
R6934:Tox UTSW 4 6697635 missense probably damaging 0.98
R7513:Tox UTSW 4 6741507 missense probably benign
R7915:Tox UTSW 4 6822949 missense probably benign
R8223:Tox UTSW 4 6842408 missense probably damaging 1.00
R8766:Tox UTSW 4 6823047 missense probably damaging 0.99
Z1088:Tox UTSW 4 6688450 missense probably damaging 1.00
Z1176:Tox UTSW 4 6990629 start gained probably benign
Predicted Primers
Posted On2014-01-15