Incidental Mutation 'R2166:Tonsl'
ID 235509
Institutional Source Beutler Lab
Gene Symbol Tonsl
Ensembl Gene ENSMUSG00000059323
Gene Name tonsoku-like, DNA repair protein
Synonyms Nfkbil2, 2810439M11Rik
MMRRC Submission 040169-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2166 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 76510437-76524129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76521513 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 293 (I293T)
Ref Sequence ENSEMBL: ENSMUSP00000129597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165190] [ENSMUST00000166974] [ENSMUST00000168185]
AlphaFold no structure available at present
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163161
Predicted Effect probably benign
Transcript: ENSMUST00000165190
AA Change: I293T

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131368
Gene: ENSMUSG00000059323
AA Change: I293T

DomainStartEndE-ValueType
TPR 27 60 5.33e1 SMART
Blast:TPR 67 100 4e-9 BLAST
TPR 162 195 1.77e1 SMART
TPR 202 235 1.36e1 SMART
low complexity region 259 271 N/A INTRINSIC
TPR 311 344 1.4e1 SMART
TPR 352 385 7.27e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166974
Predicted Effect probably benign
Transcript: ENSMUST00000168185
AA Change: I293T

PolyPhen 2 Score 0.128 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: I293T

DomainStartEndE-ValueType
TPR 27 60 5.33e1 SMART
Blast:TPR 67 100 7e-9 BLAST
TPR 162 195 1.77e1 SMART
TPR 202 235 1.36e1 SMART
Pfam:TPR_8 242 274 8.7e-3 PFAM
TPR 311 344 1.4e1 SMART
TPR 352 385 7.27e0 SMART
low complexity region 413 437 N/A INTRINSIC
low complexity region 465 494 N/A INTRINSIC
low complexity region 500 511 N/A INTRINSIC
ANK 528 559 8.36e1 SMART
ANK 561 590 4.85e-8 SMART
ANK 597 626 2.85e-5 SMART
low complexity region 690 707 N/A INTRINSIC
low complexity region 729 753 N/A INTRINSIC
low complexity region 1031 1044 N/A INTRINSIC
LRR 1058 1085 2.86e-1 SMART
LRR 1086 1113 5.88e-1 SMART
LRR 1117 1144 1.67e-2 SMART
LRR 1177 1204 2.72e0 SMART
LRR 1236 1263 7.02e0 SMART
LRR 1264 1292 1.46e2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168432
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171478
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is thought to be a negative regulator of NF-kappa-B mediated transcription. The encoded protein may bind NF-kappa-B complexes and trap them in the cytoplasm, preventing them from entering the nucleus and interacting with the DNA. Phosphorylation of this protein targets it for degradation by the ubiquitination pathway, which frees the NF-kappa-B complexes to enter the nucleus. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,716,762 (GRCm39) F779I probably damaging Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Birc6 A T 17: 74,942,790 (GRCm39) T2761S probably benign Het
Cav1 A T 6: 17,339,430 (GRCm39) I141F possibly damaging Het
Cmklr2 A G 1: 63,223,107 (GRCm39) F43L probably benign Het
Gm973 A G 1: 59,565,898 (GRCm39) D39G possibly damaging Het
Gucy1a2 T A 9: 3,579,513 (GRCm39) probably null Het
Il1b A T 2: 129,206,968 (GRCm39) M264K probably damaging Het
Itpr1 A G 6: 108,365,186 (GRCm39) Y38C probably damaging Het
Kcnb2 A C 1: 15,781,540 (GRCm39) D804A possibly damaging Het
Kcnt1 T A 2: 25,781,195 (GRCm39) probably benign Het
Krt6b T C 15: 101,587,050 (GRCm39) probably null Het
Mef2a A G 7: 66,915,870 (GRCm39) V144A probably damaging Het
Mroh3 A G 1: 136,113,791 (GRCm39) M666T probably benign Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Nalcn T A 14: 123,607,363 (GRCm39) Y702F probably benign Het
Napepld T A 5: 21,888,230 (GRCm39) K73I possibly damaging Het
Or5h23 T A 16: 58,905,949 (GRCm39) K299I probably benign Het
Or8g21 G A 9: 38,906,513 (GRCm39) Q73* probably null Het
Pappa A C 4: 65,074,682 (GRCm39) D412A probably damaging Het
Plbd1 A G 6: 136,590,788 (GRCm39) probably null Het
Ppp1r10 G T 17: 36,241,481 (GRCm39) R752L unknown Het
Prep T C 10: 44,968,751 (GRCm39) probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ptprz1 A G 6: 23,045,632 (GRCm39) N2134S possibly damaging Het
Rhbdl3 A G 11: 80,210,523 (GRCm39) Y92C probably damaging Het
Rtkn2 T C 10: 67,877,526 (GRCm39) S532P possibly damaging Het
Rtl1 T A 12: 109,556,988 (GRCm39) H1617L probably damaging Het
Skint6 T A 4: 112,711,649 (GRCm39) N956I probably benign Het
Slc13a2 A G 11: 78,293,901 (GRCm39) V287A probably benign Het
Slc9a2 A G 1: 40,781,928 (GRCm39) K386E probably damaging Het
Spata20 G A 11: 94,369,930 (GRCm39) H789Y probably benign Het
Stk19 A G 17: 35,051,486 (GRCm39) I23T possibly damaging Het
Topbp1 A G 9: 103,190,128 (GRCm39) probably null Het
Trappc2l T A 8: 123,339,901 (GRCm39) S44T probably benign Het
Tsr1 A G 11: 74,798,280 (GRCm39) probably null Het
Ugdh A G 5: 65,574,357 (GRCm39) probably benign Het
Unc119 A G 11: 78,238,161 (GRCm39) probably null Het
Zkscan14 G A 5: 145,132,944 (GRCm39) P196S probably benign Het
Zmat4 T C 8: 24,392,152 (GRCm39) L36P probably damaging Het
Other mutations in Tonsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Tonsl APN 15 76,522,696 (GRCm39) missense possibly damaging 0.78
IGL00763:Tonsl APN 15 76,518,068 (GRCm39) missense probably damaging 1.00
IGL00796:Tonsl APN 15 76,509,349 (GRCm39) missense probably benign
IGL00965:Tonsl APN 15 76,516,080 (GRCm39) splice site probably benign
IGL01434:Tonsl APN 15 76,515,302 (GRCm39) missense probably benign 0.11
IGL01859:Tonsl APN 15 76,518,980 (GRCm39) missense probably damaging 0.97
IGL02112:Tonsl APN 15 76,517,602 (GRCm39) missense probably benign 0.01
IGL02189:Tonsl APN 15 76,507,378 (GRCm39) missense possibly damaging 0.56
IGL02281:Tonsl APN 15 76,518,274 (GRCm39) missense probably damaging 1.00
IGL02627:Tonsl APN 15 76,518,295 (GRCm39) missense probably damaging 0.99
IGL02750:Tonsl APN 15 76,517,589 (GRCm39) missense probably damaging 0.97
IGL02977:Tonsl APN 15 76,517,073 (GRCm39) missense probably benign 0.00
R0127:Tonsl UTSW 15 76,517,685 (GRCm39) missense probably benign 0.01
R0316:Tonsl UTSW 15 76,513,500 (GRCm39) missense possibly damaging 0.68
R0443:Tonsl UTSW 15 76,523,884 (GRCm39) missense probably benign
R0714:Tonsl UTSW 15 76,517,921 (GRCm39) splice site probably benign
R0946:Tonsl UTSW 15 76,507,421 (GRCm39) missense probably benign 0.03
R0975:Tonsl UTSW 15 76,523,132 (GRCm39) missense probably damaging 0.99
R1263:Tonsl UTSW 15 76,506,762 (GRCm39) missense possibly damaging 0.85
R1468:Tonsl UTSW 15 76,520,761 (GRCm39) critical splice donor site probably null
R1468:Tonsl UTSW 15 76,520,761 (GRCm39) critical splice donor site probably null
R1610:Tonsl UTSW 15 76,522,757 (GRCm39) missense probably damaging 1.00
R1623:Tonsl UTSW 15 76,522,709 (GRCm39) missense probably damaging 1.00
R1763:Tonsl UTSW 15 76,522,266 (GRCm39) missense probably damaging 1.00
R1882:Tonsl UTSW 15 76,508,350 (GRCm39) missense possibly damaging 0.83
R1898:Tonsl UTSW 15 76,523,053 (GRCm39) splice site probably null
R1932:Tonsl UTSW 15 76,508,797 (GRCm39) missense probably damaging 0.97
R2141:Tonsl UTSW 15 76,516,861 (GRCm39) missense probably damaging 0.99
R2191:Tonsl UTSW 15 76,516,880 (GRCm39) missense probably damaging 0.96
R2198:Tonsl UTSW 15 76,520,872 (GRCm39) missense probably benign 0.00
R2219:Tonsl UTSW 15 76,518,840 (GRCm39) missense probably damaging 1.00
R2762:Tonsl UTSW 15 76,514,820 (GRCm39) missense probably damaging 1.00
R3156:Tonsl UTSW 15 76,523,721 (GRCm39) missense probably damaging 1.00
R3508:Tonsl UTSW 15 76,523,956 (GRCm39) missense probably benign
R4012:Tonsl UTSW 15 76,521,244 (GRCm39) missense probably damaging 1.00
R4179:Tonsl UTSW 15 76,508,675 (GRCm39) missense probably damaging 1.00
R4180:Tonsl UTSW 15 76,508,675 (GRCm39) missense probably damaging 1.00
R4327:Tonsl UTSW 15 76,523,916 (GRCm39) missense probably benign
R4627:Tonsl UTSW 15 76,521,424 (GRCm39) missense probably damaging 1.00
R4671:Tonsl UTSW 15 76,507,610 (GRCm39) missense probably benign 0.01
R4825:Tonsl UTSW 15 76,517,448 (GRCm39) missense probably benign 0.34
R4840:Tonsl UTSW 15 76,517,409 (GRCm39) missense probably benign
R5030:Tonsl UTSW 15 76,522,301 (GRCm39) missense probably damaging 1.00
R5143:Tonsl UTSW 15 76,520,857 (GRCm39) missense possibly damaging 0.80
R6238:Tonsl UTSW 15 76,520,418 (GRCm39) splice site probably null
R6379:Tonsl UTSW 15 76,513,942 (GRCm39) missense probably benign
R6401:Tonsl UTSW 15 76,517,866 (GRCm39) missense probably damaging 1.00
R6534:Tonsl UTSW 15 76,513,877 (GRCm39) missense probably damaging 1.00
R6695:Tonsl UTSW 15 76,514,018 (GRCm39) missense possibly damaging 0.84
R6701:Tonsl UTSW 15 76,513,500 (GRCm39) missense probably damaging 1.00
R7138:Tonsl UTSW 15 76,518,976 (GRCm39) missense probably benign
R7206:Tonsl UTSW 15 76,517,851 (GRCm39) missense probably damaging 1.00
R7287:Tonsl UTSW 15 76,517,925 (GRCm39) splice site probably null
R7615:Tonsl UTSW 15 76,514,807 (GRCm39) missense probably benign 0.44
R7626:Tonsl UTSW 15 76,518,136 (GRCm39) missense probably null 1.00
R7641:Tonsl UTSW 15 76,517,852 (GRCm39) missense probably damaging 1.00
R7920:Tonsl UTSW 15 76,518,787 (GRCm39) missense probably damaging 1.00
R8245:Tonsl UTSW 15 76,521,022 (GRCm39) missense probably benign 0.10
R8311:Tonsl UTSW 15 76,517,463 (GRCm39) missense probably benign
R8679:Tonsl UTSW 15 76,518,263 (GRCm39) missense probably damaging 1.00
R8679:Tonsl UTSW 15 76,517,076 (GRCm39) missense probably benign 0.19
R9093:Tonsl UTSW 15 76,515,270 (GRCm39) missense probably damaging 0.97
R9143:Tonsl UTSW 15 76,514,824 (GRCm39) missense probably damaging 0.96
R9278:Tonsl UTSW 15 76,520,971 (GRCm39) intron probably benign
R9286:Tonsl UTSW 15 76,515,213 (GRCm39) missense probably damaging 1.00
Z1177:Tonsl UTSW 15 76,520,353 (GRCm39) missense possibly damaging 0.50
Predicted Primers PCR Primer
(F):5'- GAAGGCAGCACAGTATGTCTC -3'
(R):5'- GTGGTCAAGTTCCCCACTAC -3'

Sequencing Primer
(F):5'- AGCACAGTATGTCTCAGACCTTTTCG -3'
(R):5'- TGGTCACACTGAGACACT -3'
Posted On 2014-10-01