Incidental Mutation 'IGL01891:Tox2'
ID 179246
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tox2
Ensembl Gene ENSMUSG00000074607
Gene Name TOX high mobility group box family member 2
Synonyms LOC269389, RxHMG1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01891
Quality Score
Status
Chromosome 2
Chromosomal Location 163045047-163166092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 163164903 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 514 (K514N)
Ref Sequence ENSEMBL: ENSMUSP00000126243 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099110] [ENSMUST00000109428] [ENSMUST00000165937]
AlphaFold A2A472
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: K160N
SMART Domains Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: K160N

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: K514N

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: K514N

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: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acnat2 T C 4: 49,383,395 (GRCm39) T53A probably benign Het
Aoc1 A G 6: 48,885,776 (GRCm39) probably benign Het
Ctsf G A 19: 4,906,595 (GRCm39) R174Q probably damaging Het
Ddo T C 10: 40,523,643 (GRCm39) V211A possibly damaging Het
Ermp1 T C 19: 29,594,002 (GRCm39) I723V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
H2-M3 T G 17: 37,583,608 (GRCm39) I322S probably benign Het
Npc1l1 T C 11: 6,164,280 (GRCm39) T1206A probably damaging Het
Pold3 A T 7: 99,737,352 (GRCm39) probably benign Het
Ripor3 T C 2: 167,825,071 (GRCm39) T813A possibly damaging Het
Suco T C 1: 161,666,371 (GRCm39) N510D probably damaging Het
Tas2r120 A G 6: 132,634,807 (GRCm39) *296W probably null Het
Ubr4 G A 4: 139,163,571 (GRCm39) probably null Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zbtb1 T A 12: 76,432,435 (GRCm39) F140L probably damaging Het
Zc3h14 T C 12: 98,725,206 (GRCm39) probably benign Het
Other mutations in Tox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Tox2 APN 2 163,067,386 (GRCm39) utr 5 prime probably benign
IGL02190:Tox2 APN 2 163,164,926 (GRCm39) missense possibly damaging 0.91
IGL02576:Tox2 APN 2 163,118,100 (GRCm39) missense probably damaging 0.99
R0881:Tox2 UTSW 2 163,163,365 (GRCm39) missense probably benign 0.18
R1739:Tox2 UTSW 2 163,089,705 (GRCm39) missense probably damaging 0.99
R1742:Tox2 UTSW 2 163,067,446 (GRCm39) missense probably benign 0.04
R1900:Tox2 UTSW 2 163,118,087 (GRCm39) missense probably damaging 1.00
R1937:Tox2 UTSW 2 163,067,476 (GRCm39) missense probably benign
R2345:Tox2 UTSW 2 163,161,518 (GRCm39) missense probably damaging 1.00
R2842:Tox2 UTSW 2 163,046,550 (GRCm39) intron probably benign
R3753:Tox2 UTSW 2 163,156,243 (GRCm39) missense probably damaging 1.00
R4614:Tox2 UTSW 2 163,162,567 (GRCm39) missense probably damaging 1.00
R4615:Tox2 UTSW 2 163,162,567 (GRCm39) missense probably damaging 1.00
R4616:Tox2 UTSW 2 163,162,567 (GRCm39) missense probably damaging 1.00
R4618:Tox2 UTSW 2 163,162,567 (GRCm39) missense probably damaging 1.00
R4625:Tox2 UTSW 2 163,156,336 (GRCm39) missense possibly damaging 0.71
R5410:Tox2 UTSW 2 163,162,293 (GRCm39) missense probably benign 0.04
R5493:Tox2 UTSW 2 163,046,649 (GRCm39) nonsense probably null
R6731:Tox2 UTSW 2 163,162,297 (GRCm39) missense probably damaging 1.00
R6965:Tox2 UTSW 2 163,164,930 (GRCm39) makesense probably null
R7038:Tox2 UTSW 2 163,156,264 (GRCm39) missense probably damaging 0.99
R7078:Tox2 UTSW 2 163,162,501 (GRCm39) missense
R7422:Tox2 UTSW 2 163,163,435 (GRCm39) missense
R7577:Tox2 UTSW 2 163,157,822 (GRCm39) nonsense probably null
R7829:Tox2 UTSW 2 163,162,296 (GRCm39) missense probably damaging 1.00
R8356:Tox2 UTSW 2 163,046,550 (GRCm39) missense unknown
R8456:Tox2 UTSW 2 163,046,550 (GRCm39) missense unknown
R8754:Tox2 UTSW 2 163,163,360 (GRCm39) missense
R9085:Tox2 UTSW 2 163,067,481 (GRCm39) missense probably benign 0.19
R9153:Tox2 UTSW 2 163,045,091 (GRCm39) missense
R9526:Tox2 UTSW 2 163,164,930 (GRCm39) makesense probably null
RF011:Tox2 UTSW 2 163,067,484 (GRCm39) missense probably benign 0.02
Posted On 2014-05-07