Incidental Mutation 'IGL02190:Tox2'
ID283829
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tox2
Ensembl Gene ENSMUSG00000074607
Gene NameTOX high mobility group box family member 2
SynonymsLOC269389, RxHMG1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02190
Quality Score
Status
Chromosome2
Chromosomal Location163203125-163324170 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 163323006 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 522 (R522H)
Ref Sequence ENSEMBL: ENSMUSP00000126243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099110] [ENSMUST00000109428] [ENSMUST00000165937]
Predicted Effect probably benign
Transcript: ENSMUST00000099110
SMART Domains Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 20 35 N/A INTRINSIC
low complexity region 110 122 N/A INTRINSIC
low complexity region 232 248 N/A INTRINSIC
HMG 287 357 1.44e-18 SMART
low complexity region 424 451 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
low complexity region 499 524 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109428
SMART Domains Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607

DomainStartEndE-ValueType
low complexity region 68 80 N/A INTRINSIC
low complexity region 190 206 N/A INTRINSIC
HMG 245 315 1.44e-18 SMART
low complexity region 382 409 N/A INTRINSIC
low complexity region 415 429 N/A INTRINSIC
low complexity region 457 482 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148599
AA Change: R168H
SMART Domains Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: R168H

DomainStartEndE-ValueType
low complexity region 36 63 N/A INTRINSIC
low complexity region 69 83 N/A INTRINSIC
low complexity region 111 136 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000165937
AA Change: R522H

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: R522H

DomainStartEndE-ValueType
low complexity region 75 87 N/A INTRINSIC
low complexity region 197 213 N/A INTRINSIC
HMG 252 322 1.44e-18 SMART
low complexity region 389 416 N/A INTRINSIC
low complexity region 422 436 N/A INTRINSIC
low complexity region 464 489 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrd1 T C 5: 129,140,724 probably benign Het
AI314180 A T 4: 58,800,190 S1838R probably benign Het
Ano1 T C 7: 144,618,883 E521G probably benign Het
As3mt A T 19: 46,719,945 I224F probably benign Het
Atp5j2 C A 5: 145,183,832 probably benign Het
Cacna1h A G 17: 25,433,026 V48A probably benign Het
Ctu2 T C 8: 122,481,658 probably benign Het
Efcab5 T C 11: 77,121,314 R841G probably benign Het
Erbb3 A T 10: 128,571,010 probably null Het
Fkbp15 G T 4: 62,304,822 P947T possibly damaging Het
Gabpb1 A G 2: 126,653,549 probably benign Het
Gcn1l1 G T 5: 115,614,124 V2100L probably damaging Het
Gemin5 A C 11: 58,134,842 V977G probably damaging Het
Gpr107 T A 2: 31,178,320 Y265N probably damaging Het
Gpx8 T C 13: 113,043,309 probably benign Het
H2-Eb2 A T 17: 34,334,374 N178I probably damaging Het
Ift172 C T 5: 31,254,458 V1587I possibly damaging Het
Lrrc45 A G 11: 120,718,508 T398A probably damaging Het
Mmrn1 G T 6: 60,987,193 V1059L probably benign Het
Morn5 A G 2: 36,079,515 D147G probably benign Het
Mphosph9 T C 5: 124,265,425 R847G possibly damaging Het
Nutm1 C T 2: 112,249,406 W721* probably null Het
Olfr1136 A G 2: 87,693,063 M273T probably benign Het
Olfr347 T C 2: 36,734,579 L86P probably benign Het
Olfr531 T C 7: 140,400,120 probably benign Het
Rgl3 A G 9: 21,981,708 F227L probably benign Het
Ropn1l G T 15: 31,443,341 L182I probably benign Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Scgb1a1 A T 19: 9,087,867 L12Q probably damaging Het
Scp2 A G 4: 108,087,128 S237P probably benign Het
Skint5 T C 4: 113,940,765 Q207R possibly damaging Het
Slc16a5 A G 11: 115,462,609 M1V probably null Het
Trip12 A T 1: 84,766,070 N505K probably damaging Het
Tuba1c G A 15: 99,037,989 D444N unknown Het
Vmn1r174 A G 7: 23,754,827 E306G unknown Het
Vmn2r111 A T 17: 22,570,773 F417L probably benign Het
Vmn2r15 A T 5: 109,293,374 M206K probably damaging Het
Vmn2r95 G T 17: 18,451,776 A592S probably benign Het
Zfp318 C T 17: 46,396,810 R265* probably null Het
Other mutations in Tox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Tox2 APN 2 163225466 utr 5 prime probably benign
IGL01891:Tox2 APN 2 163322983 missense possibly damaging 0.48
IGL02576:Tox2 APN 2 163276180 missense probably damaging 0.99
R0881:Tox2 UTSW 2 163321445 missense probably benign 0.18
R1739:Tox2 UTSW 2 163247785 missense probably damaging 0.99
R1742:Tox2 UTSW 2 163225526 missense probably benign 0.04
R1900:Tox2 UTSW 2 163276167 missense probably damaging 1.00
R1937:Tox2 UTSW 2 163225556 missense probably benign
R2345:Tox2 UTSW 2 163319598 missense probably damaging 1.00
R2842:Tox2 UTSW 2 163204630 intron probably benign
R3753:Tox2 UTSW 2 163314323 missense probably damaging 1.00
R4614:Tox2 UTSW 2 163320647 missense probably damaging 1.00
R4615:Tox2 UTSW 2 163320647 missense probably damaging 1.00
R4616:Tox2 UTSW 2 163320647 missense probably damaging 1.00
R4618:Tox2 UTSW 2 163320647 missense probably damaging 1.00
R4625:Tox2 UTSW 2 163314416 missense possibly damaging 0.71
R5410:Tox2 UTSW 2 163320373 missense probably benign 0.04
R5493:Tox2 UTSW 2 163204729 nonsense probably null
R6731:Tox2 UTSW 2 163320377 missense probably damaging 1.00
R6965:Tox2 UTSW 2 163323010 makesense probably null
R7038:Tox2 UTSW 2 163314344 missense probably damaging 0.99
R7078:Tox2 UTSW 2 163320581 missense
R7422:Tox2 UTSW 2 163321515 missense
R7577:Tox2 UTSW 2 163315902 nonsense probably null
Posted On2015-04-16