Incidental Mutation 'IGL01481:Tox'
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ID88590
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tox
Ensembl Gene ENSMUSG00000041272
Gene Namethymocyte selection-associated high mobility group box
Synonyms1700007F02Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01481
Quality Score
Status
Chromosome4
Chromosomal Location6686353-6991557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 6842396 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 45 (T45S)
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 probably damaging
Transcript: ENSMUST00000039987
AA Change: T45S

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: T45S

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
Coding Region Coverage
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,933,098 S523C probably damaging Het
Apaf1 A T 10: 91,031,588 D798E possibly damaging Het
Arhgef7 G T 8: 11,815,256 V410L probably benign Het
Capn7 T C 14: 31,355,339 L338P probably damaging Het
Cldn17 A G 16: 88,506,583 V86A probably benign Het
Clec4a2 A G 6: 123,142,500 N237S probably benign Het
Cmtr1 T G 17: 29,698,657 I654S probably benign Het
Cryzl2 G A 1: 157,470,739 probably null Het
Ctif A G 18: 75,611,784 probably benign Het
Dcaf7 T A 11: 106,054,746 I307N probably damaging Het
Drosha A T 15: 12,842,439 T399S probably benign Het
Eef2k A T 7: 120,895,218 Y35F probably benign Het
Emc1 T C 4: 139,362,099 S193P probably benign Het
Fpr2 T C 17: 17,892,763 I7T probably benign Het
Fras1 C A 5: 96,657,241 N1247K probably damaging Het
Gipr T C 7: 19,159,506 probably benign Het
Heatr5a C T 12: 51,955,425 G243S probably damaging Het
Hivep2 G A 10: 14,149,237 R2265Q probably benign Het
Iars T C 13: 49,728,698 S1073P probably benign Het
Inpp4b T C 8: 81,997,380 S514P probably damaging Het
Inpp5b T A 4: 124,800,699 probably null Het
Itga2 C T 13: 114,859,632 V708I possibly damaging Het
Itih5 A C 2: 10,190,289 Q164P probably damaging Het
Map3k19 T A 1: 127,822,478 E1045D probably damaging Het
Mbd5 T C 2: 49,278,939 V1374A possibly damaging Het
Mrps34 T C 17: 24,897,336 probably benign Het
Nadsyn1 T C 7: 143,812,584 D191G probably damaging Het
Nlrc3 T G 16: 3,963,905 N563H probably damaging Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr1252 A G 2: 89,721,526 L195P probably damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr654 C A 7: 104,587,860 P36T probably damaging Het
Olfr981 T C 9: 40,023,278 M295T possibly damaging Het
Pdgfd C A 9: 6,337,271 T195K probably null Het
Ptprz1 C A 6: 22,999,980 Q690K probably benign Het
Scfd1 T A 12: 51,384,120 M23K probably damaging Het
Scn10a G A 9: 119,609,194 R1869C probably damaging Het
Scp2 T C 4: 108,074,442 probably null Het
Sec61a1 A G 6: 88,506,847 V354A probably benign Het
Sgpp1 T C 12: 75,722,657 I246V probably benign Het
Slco2a1 G T 9: 103,070,251 D250Y probably damaging Het
Slit2 A G 5: 48,302,931 N1435D probably benign Het
Sspo A G 6: 48,448,515 I23M probably benign Het
Steap4 A T 5: 7,976,858 T274S probably damaging Het
Tbc1d22b T C 17: 29,568,598 L107P possibly damaging Het
Tiparp G T 3: 65,552,609 G442* probably null Het
Tmem45a2 T A 16: 57,047,012 I109F probably benign Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Vmn2r4 A T 3: 64,406,395 N388K probably damaging Het
Wdr7 G A 18: 63,739,179 D395N probably damaging Het
Other mutations in Tox
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01359:Tox APN 4 6697583 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
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
Z1088:Tox UTSW 4 6688450 missense probably damaging 1.00
Z1176:Tox UTSW 4 6990629 start gained probably benign
Posted On2013-11-18