Incidental Mutation 'R1610:Tonsl'
ID 176756
Institutional Source Beutler Lab
Gene Symbol Tonsl
Ensembl Gene ENSMUSG00000059323
Gene Name tonsoku-like, DNA repair protein
Synonyms Nfkbil2, 2810439M11Rik
MMRRC Submission 039647-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1610 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76510437-76524129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 76522757 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 165 (Y165N)
Ref Sequence ENSEMBL: ENSMUSP00000131368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081291] [ENSMUST00000165190] [ENSMUST00000166974] [ENSMUST00000168185]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000081291
SMART Domains Protein: ENSMUSP00000080043
Gene: ENSMUSG00000053929

DomainStartEndE-ValueType
SCOP:d1jm7a_ 21 88 3e-5 SMART
Blast:RING 27 62 8e-15 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163161
Predicted Effect probably damaging
Transcript: ENSMUST00000165190
AA Change: Y165N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131368
Gene: ENSMUSG00000059323
AA Change: Y165N

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 damaging
Transcript: ENSMUST00000168185
AA Change: Y165N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: Y165N

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
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.1%
Validation Efficiency
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acbd5 G A 2: 22,980,563 (GRCm39) C312Y probably damaging Het
Adgrl1 T A 8: 84,659,002 (GRCm39) M601K probably benign Het
Agbl4 G A 4: 111,514,365 (GRCm39) E459K probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Casz1 C T 4: 149,013,544 (GRCm39) A36V possibly damaging Het
Cfap20dc G T 14: 8,511,110 (GRCm38) H435N probably benign Het
Chpf A G 1: 75,453,292 (GRCm39) V327A probably damaging Het
Cldn23 A G 8: 36,293,084 (GRCm39) Y135H probably damaging Het
Cobll1 C T 2: 64,963,986 (GRCm39) D211N probably damaging Het
Cramp1 A G 17: 25,202,925 (GRCm39) V368A probably benign Het
Dnah6 T C 6: 73,121,946 (GRCm39) T1374A probably benign Het
Dpyd A G 3: 118,858,655 (GRCm39) H623R probably benign Het
Dyrk2 T C 10: 118,695,830 (GRCm39) N476S probably benign Het
Endog A T 2: 30,063,899 (GRCm39) I267F probably damaging Het
Ephb6 A T 6: 41,591,307 (GRCm39) K155* probably null Het
Far2 T C 6: 148,058,956 (GRCm39) V214A possibly damaging Het
Fat2 A G 11: 55,169,750 (GRCm39) V3003A probably damaging Het
Frg2f1 T A 4: 119,388,485 (GRCm39) T5S possibly damaging Het
Gm14496 A T 2: 181,637,972 (GRCm39) T349S probably benign Het
Golgb1 A G 16: 36,746,463 (GRCm39) T2951A probably benign Het
Hc G T 2: 34,896,173 (GRCm39) D1203E probably benign Het
Isg20 C A 7: 78,564,257 (GRCm39) Q55K possibly damaging Het
Jph4 G T 14: 55,351,560 (GRCm39) A152E probably damaging Het
Kcnq3 T C 15: 65,897,109 (GRCm39) T264A probably damaging Het
Kcnq5 T G 1: 21,527,685 (GRCm39) T463P probably damaging Het
Klra8 A G 6: 130,095,981 (GRCm39) S204P probably damaging Het
Ldlrad1 A G 4: 107,072,072 (GRCm39) D98G probably damaging Het
Lhfpl4 T C 6: 113,171,097 (GRCm39) T30A possibly damaging Het
Lig1 T A 7: 13,019,266 (GRCm39) L80Q probably damaging Het
Lmbrd2 A G 15: 9,186,699 (GRCm39) Y558C probably benign Het
Lrrn3 G T 12: 41,502,992 (GRCm39) L442I possibly damaging Het
Mc2r A G 18: 68,540,519 (GRCm39) F258S probably damaging Het
Mmp16 A G 4: 18,011,582 (GRCm39) T137A probably benign Het
Nfatc2ip A T 7: 125,986,579 (GRCm39) S359T probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nup50l G T 6: 96,142,270 (GRCm39) P258Q probably damaging Het
Or10a48 T A 7: 108,425,131 (GRCm39) H25L probably benign Het
Or4c15b T C 2: 89,113,165 (GRCm39) H104R probably damaging Het
Or4s2b A T 2: 88,508,918 (GRCm39) K233* probably null Het
Or8b1b C T 9: 38,375,927 (GRCm39) L197F probably damaging Het
Pacc1 A G 1: 191,077,262 (GRCm39) D195G probably benign Het
Plagl1 C T 10: 13,004,706 (GRCm39) probably benign Het
Plxnb2 A T 15: 89,042,696 (GRCm39) S1531T probably damaging Het
Ptpn22 G A 3: 103,809,512 (GRCm39) probably null Het
Rtn1 T A 12: 72,266,053 (GRCm39) Q174L possibly damaging Het
Selenoo A G 15: 88,984,119 (GRCm39) E645G probably benign Het
Serpina1a A C 12: 103,820,096 (GRCm39) D383E possibly damaging Het
Slc6a18 T A 13: 73,816,344 (GRCm39) Y345F probably benign Het
Smbd1 A G 16: 32,627,135 (GRCm39) V51A possibly damaging Het
Tchh C T 3: 93,352,146 (GRCm39) R529W unknown Het
Trdmt1 G A 2: 13,520,870 (GRCm39) T344I probably damaging Het
Ubash3b C A 9: 40,954,796 (GRCm39) R116L probably damaging Het
Vmn2r94 A G 17: 18,463,995 (GRCm39) V765A probably damaging Het
Zfp474 C T 18: 52,771,437 (GRCm39) T30I probably benign 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
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
R2166:Tonsl UTSW 15 76,521,513 (GRCm39) missense probably benign 0.13
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'- TCTGGTGTCCACCAACCTTGGAAC -3'
(R):5'- GCAGACTCCTGGCTCACTCAATAAG -3'

Sequencing Primer
(F):5'- GATGTTCAACCAGTTACGGC -3'
(R):5'- TCCTGGCTCACTCAATAAGAGATG -3'
Posted On 2014-04-24