Incidental Mutation 'R6669:Tox4'
ID 528071
Institutional Source Beutler Lab
Gene Symbol Tox4
Ensembl Gene ENSMUSG00000016831
Gene Name TOX high mobility group box family member 4
Synonyms 5730589K01Rik
MMRRC Submission 044789-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6669 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 52516603-52532966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 52524213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 116 (Y116H)
Ref Sequence ENSEMBL: ENSMUSP00000022766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022766]
AlphaFold Q8BU11
Predicted Effect probably damaging
Transcript: ENSMUST00000022766
AA Change: Y116H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000022766
Gene: ENSMUSG00000016831
AA Change: Y116H

DomainStartEndE-ValueType
low complexity region 146 160 N/A INTRINSIC
low complexity region 207 218 N/A INTRINSIC
HMG 222 292 1.17e-18 SMART
low complexity region 307 339 N/A INTRINSIC
low complexity region 435 476 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137753
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173361
Meta Mutation Damage Score 0.3879 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.5%
Validation Efficiency 97% (33/34)
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ascc3 A G 10: 50,716,469 (GRCm39) I1952V probably benign Het
Atg2b T C 12: 105,637,788 (GRCm39) E142G possibly damaging Het
Bbc3 G T 7: 16,047,641 (GRCm39) A122S possibly damaging Het
Cenpu T C 8: 47,029,319 (GRCm39) S191P probably damaging Het
Clic3 G T 2: 25,347,779 (GRCm39) R48L possibly damaging Het
Cmya5 T C 13: 93,229,767 (GRCm39) K1774E probably benign Het
Cnst T A 1: 179,432,638 (GRCm39) probably null Het
Cyfip1 T A 7: 55,549,809 (GRCm39) S657T probably damaging Het
Dock10 T C 1: 80,570,572 (GRCm39) Y322C probably damaging Het
Epn2 C T 11: 61,410,384 (GRCm39) V550I probably benign Het
Evc2 C T 5: 37,535,722 (GRCm39) P466S possibly damaging Het
Fancd2 C T 6: 113,570,288 (GRCm39) T1413I probably benign Het
Gpat2 G C 2: 127,273,838 (GRCm39) G294R possibly damaging Het
Herc4 T A 10: 63,121,847 (GRCm39) W400R probably benign Het
Kcna7 T C 7: 45,058,988 (GRCm39) V425A probably damaging Het
Klhl3 A T 13: 58,158,966 (GRCm39) D564E probably benign Het
Man2b2 T C 5: 36,967,702 (GRCm39) I889V probably benign Het
Mcm3ap A G 10: 76,343,171 (GRCm39) I1688V probably damaging Het
Mocos T A 18: 24,799,467 (GRCm39) F234I probably damaging Het
Muc20 T C 16: 32,614,307 (GRCm39) T357A possibly damaging Het
Ncoa6 T G 2: 155,241,613 (GRCm39) probably null Het
Nlk C A 11: 78,477,892 (GRCm39) G284* probably null Het
Nrxn1 T A 17: 90,366,991 (GRCm39) T12S probably damaging Het
Nrxn2 A G 19: 6,531,221 (GRCm39) Y627C probably damaging Het
Ntn1 T C 11: 68,276,576 (GRCm39) N124S probably benign Het
Pdzd7 T A 19: 45,025,190 (GRCm39) Q435L possibly damaging Het
Rsf1 GCGGCGGCG GCGGCGGCGTCGGCGGCG 7: 97,229,132 (GRCm39) probably benign Het
Slc30a10 G A 1: 185,196,625 (GRCm39) R429Q probably benign Het
Trpv5 G A 6: 41,634,976 (GRCm39) A451V probably damaging Het
Ube3a T C 7: 58,926,605 (GRCm39) V482A probably benign Het
Vcan A T 13: 89,852,850 (GRCm39) D703E probably benign Het
Xirp2 C A 2: 67,343,699 (GRCm39) A1980E possibly damaging Het
Xrcc1 T C 7: 24,246,762 (GRCm39) V10A probably damaging Het
Other mutations in Tox4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Tox4 APN 14 52,523,202 (GRCm39) missense probably damaging 1.00
Gift UTSW 14 52,524,213 (GRCm39) missense probably damaging 1.00
PIT4494001:Tox4 UTSW 14 52,529,260 (GRCm39) missense possibly damaging 0.71
R0517:Tox4 UTSW 14 52,530,085 (GRCm39) missense probably benign 0.01
R0801:Tox4 UTSW 14 52,517,335 (GRCm39) missense probably benign 0.28
R1640:Tox4 UTSW 14 52,530,000 (GRCm39) missense possibly damaging 0.53
R2980:Tox4 UTSW 14 52,529,983 (GRCm39) missense probably benign 0.00
R3899:Tox4 UTSW 14 52,517,299 (GRCm39) missense probably damaging 0.98
R4016:Tox4 UTSW 14 52,523,361 (GRCm39) critical splice donor site probably null
R4614:Tox4 UTSW 14 52,524,924 (GRCm39) missense probably damaging 0.99
R5764:Tox4 UTSW 14 52,523,277 (GRCm39) missense probably damaging 0.96
R5847:Tox4 UTSW 14 52,524,241 (GRCm39) missense probably damaging 0.99
R6978:Tox4 UTSW 14 52,524,694 (GRCm39) splice site probably null
R7155:Tox4 UTSW 14 52,529,554 (GRCm39) missense probably benign
R7770:Tox4 UTSW 14 52,517,299 (GRCm39) missense probably damaging 1.00
R8806:Tox4 UTSW 14 52,524,318 (GRCm39) missense probably damaging 0.98
R9012:Tox4 UTSW 14 52,523,208 (GRCm39) missense probably benign 0.19
R9165:Tox4 UTSW 14 52,523,247 (GRCm39) missense possibly damaging 0.90
R9523:Tox4 UTSW 14 52,529,166 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CCCAAGGATTGTGGGGAATG -3'
(R):5'- TTGAAAGACGATCCTCAGGTG -3'

Sequencing Primer
(F):5'- TTCACATAGGTAGATCAGGCTAGCC -3'
(R):5'- GTGACTGGGCAGGTGGC -3'
Posted On 2018-07-24