Incidental Mutation 'R4616:Tox2'
ID 351024
Institutional Source Beutler Lab
Gene Symbol Tox2
Ensembl Gene ENSMUSG00000074607
Gene Name TOX high mobility group box family member 2
Synonyms LOC269389, RxHMG1
MMRRC Submission 041827-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4616 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 163045047-163166092 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 163162567 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 479 (L479P)
Ref Sequence ENSEMBL: ENSMUSP00000096710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099110] [ENSMUST00000109428] [ENSMUST00000165937]
AlphaFold A2A472
Predicted Effect probably damaging
Transcript: ENSMUST00000099110
AA Change: L479P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: L479P

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 damaging
Transcript: ENSMUST00000109428
AA Change: L437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: L437P

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: L90P
SMART Domains Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: L90P

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 probably damaging
Transcript: ENSMUST00000165937
AA Change: L444P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: L444P

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
Meta Mutation Damage Score 0.4258 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (64/64)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acod1 C T 14: 103,292,781 (GRCm39) T435M probably benign Het
Adgrf5 T C 17: 43,763,331 (GRCm39) F1078L probably benign Het
Adh6a A T 3: 138,030,708 (GRCm39) N110I probably damaging Het
Aldh16a1 T C 7: 44,798,212 (GRCm39) probably benign Het
Aopep G A 13: 63,446,565 (GRCm39) E123K probably damaging Het
Arhgef17 A G 7: 100,531,692 (GRCm39) F1302S probably damaging Het
Bcl2a1a C T 9: 88,839,506 (GRCm39) R135W probably damaging Het
Bpifa6 T C 2: 153,824,908 (GRCm39) S28P possibly damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Cfb T A 17: 35,078,044 (GRCm39) H962L probably benign Het
Chn2 G A 6: 54,267,388 (GRCm39) M292I probably damaging Het
Clec16a T A 16: 10,462,747 (GRCm39) probably null Het
Cyp1a1 T C 9: 57,609,039 (GRCm39) S307P probably benign Het
Dsg3 T C 18: 20,664,616 (GRCm39) V538A probably benign Het
Erbb3 G A 10: 128,408,639 (GRCm39) Q815* probably null Het
Fam90a1a C A 8: 22,453,862 (GRCm39) Q406K possibly damaging Het
Frmd3 T C 4: 74,106,109 (GRCm39) V585A probably benign Het
Gm8214 T C 1: 183,414,094 (GRCm39) noncoding transcript Het
Gpld1 G A 13: 25,168,799 (GRCm39) G771D probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Gria2 A T 3: 80,614,204 (GRCm39) I612N probably damaging Het
Ifit1bl1 T C 19: 34,572,010 (GRCm39) E149G probably damaging Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Ighv2-9 G T 12: 113,842,839 (GRCm39) T76K probably damaging Het
Igkv6-13 A T 6: 70,435,019 (GRCm39) M1K probably null Het
Igkv8-21 A T 6: 70,292,141 (GRCm39) S34T probably benign Het
Itpr1 A G 6: 108,458,184 (GRCm39) N1985D probably damaging Het
Jkampl A G 6: 73,446,252 (GRCm39) V99A probably benign Het
Lama3 T C 18: 12,637,454 (GRCm39) probably null Het
Lamc2 T C 1: 153,041,915 (GRCm39) Y73C probably damaging Het
Maff A G 15: 79,241,898 (GRCm39) D105G probably damaging Het
Mep1a C T 17: 43,797,132 (GRCm39) V312M possibly damaging Het
Mfap4 C A 11: 61,376,335 (GRCm39) probably benign Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Mrgbp A T 2: 180,227,107 (GRCm39) silent Het
Mtmr4 T C 11: 87,501,761 (GRCm39) L548S probably damaging Het
Myo7b T C 18: 32,136,540 (GRCm39) probably null Het
Myo9a T C 9: 59,728,932 (GRCm39) I596T probably damaging Het
Or2f1b G T 6: 42,739,352 (GRCm39) R122L probably benign Het
Or52e3 C T 7: 102,869,629 (GRCm39) R235* probably null Het
Pcsk5 T G 19: 17,538,114 (GRCm39) Q904H probably benign Het
Pdzrn3 G T 6: 101,128,970 (GRCm39) H565Q probably damaging Het
Phkg2 C T 7: 127,176,792 (GRCm39) R61W probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pomgnt1 T A 4: 116,012,087 (GRCm39) I337N probably damaging Het
Psmd3 T C 11: 98,573,752 (GRCm39) V66A probably benign Het
Ptger3 T C 3: 157,272,931 (GRCm39) S93P probably damaging Het
Rbm27 T A 18: 42,434,840 (GRCm39) D301E probably damaging Het
Rdh16 A T 10: 127,637,382 (GRCm39) probably null Het
Slc35a5 A T 16: 44,964,655 (GRCm39) F193I probably benign Het
Slc4a4 A G 5: 89,186,420 (GRCm39) K167R probably damaging Het
Sort1 A T 3: 108,262,857 (GRCm39) T772S possibly damaging Het
Sptbn5 T A 2: 119,879,238 (GRCm39) noncoding transcript Het
Stard5 G T 7: 83,282,489 (GRCm39) probably benign Het
Tbc1d22a A G 15: 86,119,886 (GRCm39) T61A probably damaging Het
Usp53 A T 3: 122,752,769 (GRCm39) M80K probably damaging Het
Vmn1r209 A T 13: 22,990,135 (GRCm39) L185Q probably damaging Het
Vmn2r59 A G 7: 41,661,862 (GRCm39) I651T probably benign Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zfhx4 T C 3: 5,478,127 (GRCm39) S3556P possibly damaging Het
Other mutations in Tox2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01444:Tox2 APN 2 163,067,386 (GRCm39) utr 5 prime probably benign
IGL01891:Tox2 APN 2 163,164,903 (GRCm39) missense possibly damaging 0.48
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
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
Predicted Primers PCR Primer
(F):5'- TGAGGCCAAGAACACTCAGG -3'
(R):5'- GCTTGAGAGAGCCAATGTCTC -3'

Sequencing Primer
(F):5'- AGCAGCCCATGTACGCC -3'
(R):5'- TTGAGAGAGCCAATGTCTCTCCAG -3'
Posted On 2015-10-08