Incidental Mutation 'R9702:Tox'
ID 729613
Institutional Source Beutler Lab
Gene Symbol Tox
Ensembl Gene ENSMUSG00000041272
Gene Name thymocyte selection-associated high mobility group box
Synonyms 1700007F02Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9702 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 6686353-6991557 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 6697418 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 462 (M462L)
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 probably benign
Transcript: ENSMUST00000039987
AA Change: M462L

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: M462L

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A G 11: 110,107,378 (GRCm39) Y746H probably damaging Het
Adgrv1 T A 13: 81,684,483 (GRCm39) I1073F possibly damaging Het
Ankrd6 C T 4: 32,810,202 (GRCm39) R493H possibly damaging Het
Apob G T 12: 8,057,559 (GRCm39) A2014S probably damaging Het
Bdnf A T 2: 109,554,117 (GRCm39) M164L possibly damaging Het
Ccdc187 C T 2: 26,172,222 (GRCm39) V287M unknown Het
Cd164 G A 10: 41,404,818 (GRCm39) R192Q probably damaging Het
Cd84 T C 1: 171,700,498 (GRCm39) V205A probably benign Het
Cfap161 T A 7: 83,442,652 (GRCm39) M54L probably benign Het
Crim1 T A 17: 78,681,516 (GRCm39) V990E probably damaging Het
Dsc1 A G 18: 20,227,685 (GRCm39) F518L probably benign Het
Esyt1 G A 10: 128,356,607 (GRCm39) S346L probably damaging Het
Fbxo30 G T 10: 11,166,382 (GRCm39) C368F probably benign Het
Gas2l3 C T 10: 89,249,943 (GRCm39) A392T probably benign Het
Gfra4 T A 2: 130,884,539 (GRCm39) S22C probably benign Het
Gm11992 T G 11: 9,006,568 (GRCm39) V166G probably benign Het
Gp1bb A T 16: 18,439,884 (GRCm39) L70Q probably damaging Het
Gtf2i T C 5: 134,275,415 (GRCm39) T707A probably benign Het
Inpp5f A C 7: 128,278,515 (GRCm39) D435A possibly damaging Het
Kynu T A 2: 43,479,469 (GRCm39) M121K probably damaging Het
Ldb3 A G 14: 34,299,090 (GRCm39) V178A probably benign Het
Lrrc31 A G 3: 30,735,226 (GRCm39) L350P probably damaging Het
Mfsd14b C A 13: 65,221,414 (GRCm39) V293L probably benign Het
Mrps23 C T 11: 88,100,998 (GRCm39) T121M probably damaging Het
Nlrp4c T A 7: 6,068,801 (GRCm39) V234E probably benign Het
Or51f1e T C 7: 102,747,343 (GRCm39) Y132H probably damaging Het
Pign A T 1: 105,485,212 (GRCm39) D782E probably damaging Het
Rab11b C A 17: 33,968,026 (GRCm39) R82L possibly damaging Het
Sema3c T C 5: 17,858,828 (GRCm39) S76P probably damaging Het
Slc28a2b T A 2: 122,354,012 (GRCm39) I546N probably damaging Het
Sobp T C 10: 42,897,944 (GRCm39) N547S probably benign Het
Tigd3 G A 19: 5,942,836 (GRCm39) T98M probably damaging Het
Vmn1r158 T A 7: 22,490,065 (GRCm39) Q48L probably benign Het
Vps8 A G 16: 21,462,883 (GRCm39) T1383A probably benign Het
Vwa1 G A 4: 155,857,336 (GRCm39) P154L probably damaging Het
Zfp108 C T 7: 23,960,195 (GRCm39) T262I probably benign 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
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
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 PCR Primer
(F):5'- GCTATCAATGCCTGATTTTGACAAC -3'
(R):5'- AATGACTCCTCAGCTCACCG -3'

Sequencing Primer
(F):5'- CAATGCCTGATTTTGACAACTTACC -3'
(R):5'- TAACCAAATGCCAGTGACTGTCTC -3'
Posted On 2022-10-06