Incidental Mutation 'IGL01891:Tox2'
ID179246
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 #IGL01891
Quality Score
Status
Chromosome2
Chromosomal Location163203125-163324170 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 163322983 bp
ZygosityHeterozygous
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]
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 T53A probably benign Het
Aoc1 A G 6: 48,908,842 probably benign Het
Ctsf G A 19: 4,856,567 R174Q probably damaging Het
Ddo T C 10: 40,647,647 V211A possibly damaging Het
Ermp1 T C 19: 29,616,602 I723V probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
H2-M3 T G 17: 37,272,717 I322S probably benign Het
Npc1l1 T C 11: 6,214,280 T1206A probably damaging Het
Pold3 A T 7: 100,088,145 probably benign Het
Ripor3 T C 2: 167,983,151 T813A possibly damaging Het
Suco T C 1: 161,838,802 N510D probably damaging Het
Tas2r120 A G 6: 132,657,844 *296W probably null Het
Ubr4 G A 4: 139,436,260 probably null Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zbtb1 T A 12: 76,385,661 F140L probably damaging Het
Zc3h14 T C 12: 98,758,947 probably benign Het
Other mutations in Tox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Tox2 APN 2 163225466 utr 5 prime probably benign
IGL02190:Tox2 APN 2 163323006 missense possibly damaging 0.91
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
R7829:Tox2 UTSW 2 163320376 missense probably damaging 1.00
R8356:Tox2 UTSW 2 163204630 missense unknown
R8456:Tox2 UTSW 2 163204630 missense unknown
RF011:Tox2 UTSW 2 163225564 missense probably benign 0.02
Posted On2014-05-07