Incidental Mutation 'R4984:Tox3'
ID 385791
Institutional Source Beutler Lab
Gene Symbol Tox3
Ensembl Gene ENSMUSG00000043668
Gene Name TOX high mobility group box family member 3
Synonyms CAGF9, 500-9, Tnrc9
MMRRC Submission 042578-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.873) question?
Stock # R4984 (G1)
Quality Score 102
Status Not validated
Chromosome 8
Chromosomal Location 90973668-91074971 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) TCTGCTGCTGCTGCTGCTG to TCTGCTGCTGCTGCTG at 90975270 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000109621] [ENSMUST00000176616]
AlphaFold Q80W03
Predicted Effect probably benign
Transcript: ENSMUST00000109621
SMART Domains Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 60 77 N/A INTRINSIC
low complexity region 195 214 N/A INTRINSIC
HMG 253 323 2.93e-19 SMART
low complexity region 345 362 N/A INTRINSIC
coiled coil region 438 466 N/A INTRINSIC
low complexity region 548 573 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000176616
SMART Domains Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668

DomainStartEndE-ValueType
low complexity region 32 48 N/A INTRINSIC
low complexity region 59 76 N/A INTRINSIC
low complexity region 194 213 N/A INTRINSIC
HMG 252 309 1.29e-6 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.4%
Validation Efficiency 98% (41/42)
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 an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra2a T C 19: 54,035,070 (GRCm39) I142T probably damaging Het
Cd109 T C 9: 78,541,959 (GRCm39) probably null Het
Cdc42bpg T A 19: 6,366,253 (GRCm39) I812N possibly damaging Het
Cftr A G 6: 18,235,198 (GRCm39) E479G possibly damaging Het
Cimap3 T A 3: 105,908,810 (GRCm39) probably benign Het
Cpb1 GTTT GTT 3: 20,324,516 (GRCm39) probably null Het
Crocc T C 4: 140,761,763 (GRCm39) E873G probably damaging Het
Dnah3 C T 7: 119,528,002 (GRCm39) V3827I probably benign Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
E230001N04Rik T C 17: 28,742,780 (GRCm39) noncoding transcript Het
Gpr89 T A 3: 96,812,512 (GRCm39) M10L probably benign Het
Kbtbd7 T C 14: 79,664,602 (GRCm39) Y145H probably damaging Het
Kcnh8 T A 17: 53,184,995 (GRCm39) Y426N probably damaging Het
Mipep A G 14: 61,025,631 (GRCm39) D129G possibly damaging Het
Muc15 C T 2: 110,561,918 (GRCm39) P118L probably damaging Het
Mug1 T C 6: 121,815,576 (GRCm39) probably benign Het
Nubp1 T A 16: 10,239,108 (GRCm39) D208E probably damaging Het
Or4a47 A T 2: 89,666,157 (GRCm39) V44D probably damaging Het
Or4k40 A T 2: 111,251,192 (GRCm39) Y35N probably damaging Het
Or4p4 A G 2: 88,242,921 (GRCm39) L27P probably damaging Het
Or52h9 T G 7: 104,202,228 (GRCm39) I34S probably benign Het
Or8g2 A G 9: 39,821,906 (GRCm39) D269G probably benign Het
Pdcd5 A C 7: 35,342,110 (GRCm39) V166G probably damaging Het
Pde4d T C 13: 109,876,998 (GRCm39) L173P probably damaging Het
Phldb2 T C 16: 45,645,996 (GRCm39) Y195C probably damaging Het
Pou4f1 T C 14: 104,703,619 (GRCm39) E271G unknown Het
Ppl T C 16: 4,905,505 (GRCm39) I1597V probably benign Het
Pramel17 G C 4: 101,692,796 (GRCm39) N401K possibly damaging Het
Sorl1 C A 9: 41,902,638 (GRCm39) D1640Y probably damaging Het
Taf4b T C 18: 14,968,873 (GRCm39) L670P probably damaging Het
Ttc39b A T 4: 83,160,446 (GRCm39) I377K probably benign Het
Ttll3 A G 6: 113,389,901 (GRCm39) D762G probably benign Het
Ubp1 T A 9: 113,788,460 (GRCm39) I279K probably damaging Het
Vmn2r93 T A 17: 18,533,389 (GRCm39) probably null Het
Wdfy3 C T 5: 102,090,985 (GRCm39) D532N probably benign Het
Zfp644 A T 5: 106,784,783 (GRCm39) L588Q possibly damaging Het
Other mutations in Tox3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00948:Tox3 APN 8 90,997,062 (GRCm39) missense probably damaging 1.00
IGL02417:Tox3 APN 8 90,984,759 (GRCm39) missense possibly damaging 0.52
IGL02447:Tox3 APN 8 90,984,781 (GRCm39) splice site probably benign
R1139:Tox3 UTSW 8 90,975,497 (GRCm39) missense probably damaging 1.00
R1472:Tox3 UTSW 8 90,980,973 (GRCm39) missense probably damaging 1.00
R1892:Tox3 UTSW 8 90,996,869 (GRCm39) missense probably benign 0.31
R1906:Tox3 UTSW 8 90,975,057 (GRCm39) unclassified probably benign
R2847:Tox3 UTSW 8 90,975,018 (GRCm39) nonsense probably null
R2849:Tox3 UTSW 8 90,975,018 (GRCm39) nonsense probably null
R3703:Tox3 UTSW 8 90,975,533 (GRCm39) missense possibly damaging 0.52
R3705:Tox3 UTSW 8 90,975,533 (GRCm39) missense possibly damaging 0.52
R5249:Tox3 UTSW 8 90,975,444 (GRCm39) missense probably benign 0.09
R5722:Tox3 UTSW 8 91,074,489 (GRCm39) critical splice donor site probably null
R6291:Tox3 UTSW 8 90,975,566 (GRCm39) missense probably damaging 1.00
R6451:Tox3 UTSW 8 90,984,687 (GRCm39) missense probably benign 0.31
R7653:Tox3 UTSW 8 90,975,617 (GRCm39) missense probably damaging 1.00
R7753:Tox3 UTSW 8 90,975,560 (GRCm39) missense probably damaging 1.00
R8220:Tox3 UTSW 8 90,984,708 (GRCm39) missense probably damaging 0.97
R8337:Tox3 UTSW 8 91,074,507 (GRCm39) missense probably damaging 0.99
R8387:Tox3 UTSW 8 90,984,595 (GRCm39) missense probably benign
R8525:Tox3 UTSW 8 91,001,309 (GRCm39) missense probably damaging 0.99
R8951:Tox3 UTSW 8 91,074,543 (GRCm39) missense probably benign 0.28
R9029:Tox3 UTSW 8 90,996,864 (GRCm39) missense possibly damaging 0.95
R9182:Tox3 UTSW 8 90,984,507 (GRCm39) missense probably benign 0.03
R9645:Tox3 UTSW 8 90,984,574 (GRCm39) missense probably damaging 1.00
R9790:Tox3 UTSW 8 90,975,206 (GRCm39) missense unknown
R9791:Tox3 UTSW 8 90,975,206 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AGTTGCTGCAGCTGGAGATG -3'
(R):5'- ACTCCCTAGGTCAATTGCCC -3'

Sequencing Primer
(F):5'- AGCTGGAGATGCTGCTGC -3'
(R):5'- TGAGCCAGATCGTCACATCAGTC -3'
Posted On 2016-05-10