Incidental Mutation 'R4618:Tox2'
ID 345072
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 041884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4618 (G1)
Quality Score 225
Status 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (89/91)
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik A T 3: 121,473,095 (GRCm39) K83N unknown Het
Adamtsl3 T A 7: 82,255,728 (GRCm39) M1580K probably benign Het
Adprhl1 A G 8: 13,292,250 (GRCm39) probably null Het
Akap3 G T 6: 126,843,406 (GRCm39) C675F probably benign Het
Asap1 A T 15: 64,024,744 (GRCm39) H318Q probably damaging Het
Atf7ip G T 6: 136,542,104 (GRCm39) A18S probably damaging Het
Bcl2a1a A C 9: 88,839,357 (GRCm39) N85T probably damaging Het
Btnl6 G A 17: 34,733,120 (GRCm39) P248S probably damaging Het
C9 A G 15: 6,520,944 (GRCm39) D51G probably damaging Het
Ccdc14 T A 16: 34,526,865 (GRCm39) C257S probably benign Het
Cd5l A G 3: 87,275,926 (GRCm39) T299A probably benign Het
Cstdc3 T A 16: 36,132,952 (GRCm39) D76E possibly damaging Het
Endou C T 15: 97,611,763 (GRCm39) V292M possibly damaging Het
Fbxo36 T C 1: 84,877,749 (GRCm39) I137T probably damaging Het
Fcer1a T C 1: 173,050,208 (GRCm39) I161V possibly damaging Het
Fsip2 A G 2: 82,818,103 (GRCm39) Y4612C probably benign Het
Gcnt2 T A 13: 41,111,670 (GRCm39) L353* probably null Het
Ghrhr T C 6: 55,358,739 (GRCm39) F172S probably damaging Het
Gins1 T A 2: 150,759,781 (GRCm39) probably null Het
Gm16519 T G 17: 71,236,237 (GRCm39) L62R probably damaging Het
Gpr20 T C 15: 73,567,585 (GRCm39) N268S probably benign Het
Greb1l A G 18: 10,498,965 (GRCm39) T283A probably benign Het
Grin2c T A 11: 115,143,573 (GRCm39) D729V probably damaging Het
Heatr4 T G 12: 84,024,841 (GRCm39) T327P probably damaging Het
Hes2 A C 4: 152,244,845 (GRCm39) S105R probably benign Het
Hsph1 A G 5: 149,542,308 (GRCm39) V705A probably benign Het
Ighv1-82 T C 12: 115,916,280 (GRCm39) T77A probably benign Het
Itih1 A T 14: 30,651,788 (GRCm39) D851E probably benign Het
Klhdc7b A G 15: 89,271,472 (GRCm39) T785A probably benign Het
Lmbr1 G T 5: 29,551,863 (GRCm39) A74E probably damaging Het
Lonp1 A C 17: 56,929,511 (GRCm39) H175Q probably benign Het
Maml2 T C 9: 13,531,371 (GRCm39) F195S probably damaging Het
Man2b2 G T 5: 36,974,983 (GRCm39) T436K probably benign Het
Man2c1 T C 9: 57,049,439 (GRCm39) probably null Het
Mrps15 G A 4: 125,940,837 (GRCm39) probably benign Het
Mtrf1l C A 10: 5,767,586 (GRCm39) V177F probably benign Het
Naxd A T 8: 11,559,489 (GRCm39) I213F probably damaging Het
Nbeal1 T A 1: 60,267,890 (GRCm39) probably benign Het
Nfatc1 T C 18: 80,741,047 (GRCm39) I318V probably damaging Het
Nid2 T A 14: 19,858,078 (GRCm39) I1297N probably damaging Het
Nol10 T C 12: 17,398,562 (GRCm39) V3A probably damaging Het
Nop14 G T 5: 34,796,562 (GRCm39) P765Q probably damaging Het
Noxa1 C T 2: 24,981,761 (GRCm39) G114D probably damaging Het
Ntmt2 A T 1: 163,552,597 (GRCm39) F10I probably damaging Het
Opa1 T C 16: 29,405,857 (GRCm39) W141R probably damaging Het
Or10a2 G A 7: 106,673,761 (GRCm39) C242Y probably damaging Het
Or13p4 A T 4: 118,546,667 (GRCm39) probably benign Het
Or5d18 A G 2: 87,864,898 (GRCm39) V195A probably benign Het
Or8h10 A G 2: 86,808,618 (GRCm39) I174T possibly damaging Het
Pde4d A T 13: 110,070,411 (GRCm39) M7L probably benign Het
Phykpl G A 11: 51,483,056 (GRCm39) A188T probably damaging Het
Pkd2l1 C A 19: 44,142,573 (GRCm39) A490S probably damaging Het
Pkhd1l1 T A 15: 44,403,078 (GRCm39) V2260D probably damaging Het
Ptprt T C 2: 161,395,765 (GRCm39) E1136G probably damaging Het
Rad21 A T 15: 51,833,420 (GRCm39) L353Q probably damaging Het
Rfx4 G T 10: 84,716,760 (GRCm39) A425S probably benign Het
Rnf38 A G 4: 44,142,450 (GRCm39) S169P probably damaging Het
Samd9l C A 6: 3,376,347 (GRCm39) V305F probably damaging Het
Serpini1 A G 3: 75,523,883 (GRCm39) K164E probably benign Het
Sirt6 A G 10: 81,462,408 (GRCm39) L37P probably damaging Het
Sorbs1 T C 19: 40,361,962 (GRCm39) T141A probably damaging Het
Tacc2 A T 7: 130,227,946 (GRCm39) T1563S probably benign Het
Tbc1d14 A C 5: 36,687,725 (GRCm39) probably benign Het
Tbrg4 G A 11: 6,570,185 (GRCm39) probably benign Het
Tpp1 A T 7: 105,400,913 (GRCm39) L38Q probably benign Het
Trhr A G 15: 44,061,037 (GRCm39) N186D probably benign Het
Trmt1l C T 1: 151,329,799 (GRCm39) Q581* probably null Het
Tsen54 T A 11: 115,706,247 (GRCm39) probably benign Het
Tsg101 A G 7: 46,542,257 (GRCm39) I138T possibly damaging Het
Usp22 A G 11: 61,052,269 (GRCm39) S237P probably damaging Het
Vmn1r209 A G 13: 22,990,619 (GRCm39) S24P possibly damaging Het
Vmn2r18 A T 5: 151,508,424 (GRCm39) H233Q possibly damaging Het
Vmn2r45 A T 7: 8,486,436 (GRCm39) I284N probably benign Het
Vmn2r66 T C 7: 84,644,296 (GRCm39) I705V possibly damaging Het
Vsig1 G T X: 139,827,135 (GRCm39) A95S probably benign Het
Zdhhc11 T A 13: 74,127,349 (GRCm39) M242K probably benign Het
Zfp352 A G 4: 90,113,318 (GRCm39) K486R probably benign 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
R4616: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'- TTGAGAGAGCCAATGTCTCTCC -3'

Sequencing Primer
(F):5'- AGCAGCCCATGTACGCC -3'
(R):5'- CTCCAGGCAGGTGTTTTAGACC -3'
Posted On 2015-09-25