Incidental Mutation 'R1468:Tonsl'
ID 164710
Institutional Source Beutler Lab
Gene Symbol Tonsl
Ensembl Gene ENSMUSG00000059323
Gene Name tonsoku-like, DNA repair protein
Synonyms Nfkbil2, 2810439M11Rik
MMRRC Submission 039521-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1468 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 76510437-76524129 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 76520761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000131368
Gene: ENSMUSG00000059323

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 null
Transcript: ENSMUST00000168185
SMART Domains Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323

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 0.9482 question?
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 98.4%
  • 10x: 90.8%
  • 20x: 69.0%
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: 99 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T G 7: 12,246,507 (GRCm39) M1R probably null Het
5031439G07Rik G T 15: 84,837,345 (GRCm39) P280T probably damaging Het
Abca2 C T 2: 25,331,308 (GRCm39) S1267L probably damaging Het
Acsl3 A T 1: 78,684,126 (GRCm39) R719S probably benign Het
Adam1a A T 5: 121,657,839 (GRCm39) probably null Het
Aldh6a1 T C 12: 84,488,544 (GRCm39) E89G possibly damaging Het
Ankrd36 A G 11: 5,525,752 (GRCm39) Y238C probably damaging Het
Ankrd65 G A 4: 155,877,362 (GRCm39) R291Q probably benign Het
Ano2 C T 6: 125,773,227 (GRCm39) R287W probably damaging Het
Ap1ar A G 3: 127,606,215 (GRCm39) I125T probably benign Het
Arid1b A G 17: 5,293,197 (GRCm39) D705G probably damaging Het
Asb18 T A 1: 89,924,005 (GRCm39) N86I probably damaging Het
Bicral A T 17: 47,135,519 (GRCm39) S564T probably benign Het
Bpifa6 A G 2: 153,831,192 (GRCm39) M253V probably benign Het
Braf T C 6: 39,642,017 (GRCm39) D194G probably damaging Het
Brinp3 C A 1: 146,777,700 (GRCm39) P716T probably benign Het
C7 T A 15: 5,041,631 (GRCm39) Y425F probably damaging Het
Ccdc102a T C 8: 95,632,714 (GRCm39) K421R probably benign Het
Cep89 G A 7: 35,120,388 (GRCm39) probably null Het
Chgb A T 2: 132,634,720 (GRCm39) M221L probably benign Het
Chst14 A G 2: 118,758,145 (GRCm39) Y313C probably damaging Het
Ciita G A 16: 10,331,152 (GRCm39) probably null Het
Clec12b A T 6: 129,357,603 (GRCm39) I85N probably damaging Het
Clec2e G T 6: 129,070,459 (GRCm39) Y187* probably null Het
Crbn T C 6: 106,767,804 (GRCm39) K229E probably benign Het
Ctdspl2 A T 2: 121,811,762 (GRCm39) Q201L probably benign Het
Cyp2c55 T A 19: 38,999,525 (GRCm39) V77E probably damaging Het
Cyp2c69 A C 19: 39,837,839 (GRCm39) D414E probably damaging Het
Dlg1 A G 16: 31,661,640 (GRCm39) probably null Het
Dnah5 C A 15: 28,230,609 (GRCm39) S169* probably null Het
Dock4 C A 12: 40,805,809 (GRCm39) T927K probably benign Het
Esrp2 T G 8: 106,860,453 (GRCm39) D259A probably damaging Het
Fam169a A G 13: 97,255,038 (GRCm39) K418R probably benign Het
Fancm A T 12: 65,146,067 (GRCm39) I597F probably damaging Het
Fat1 G A 8: 45,463,582 (GRCm39) V1375M probably damaging Het
Fbxw10 A T 11: 62,753,464 (GRCm39) D486V probably damaging Het
Fermt1 C T 2: 132,766,942 (GRCm39) E342K probably benign Het
Foxp1 T A 6: 98,955,181 (GRCm39) H195L possibly damaging Het
Gfra1 T A 19: 58,440,407 (GRCm39) I138L probably benign Het
Gm12185 T C 11: 48,806,501 (GRCm39) D230G possibly damaging Het
Gpd2 A C 2: 57,245,786 (GRCm39) T439P probably damaging Het
Gpm6a A T 8: 55,490,385 (GRCm39) K20N probably damaging Het
Hc A T 2: 34,873,819 (GRCm39) Y158* probably null Het
Hectd4 A T 5: 121,487,235 (GRCm39) D3410V possibly damaging Het
Il17b G A 18: 61,823,483 (GRCm39) probably null Het
Irx4 G T 13: 73,413,695 (GRCm39) R55L possibly damaging Het
Lama3 T C 18: 12,574,164 (GRCm39) V582A probably benign Het
Ldhd G T 8: 112,353,925 (GRCm39) A425E possibly damaging Het
Lrp1b C T 2: 40,817,841 (GRCm39) probably null Het
Lrp5 T C 19: 3,670,191 (GRCm39) T638A possibly damaging Het
Lrrk1 A C 7: 65,909,722 (GRCm39) F1996C probably damaging Het
Ly6h G A 15: 75,437,986 (GRCm39) S21L probably benign Het
Mctp1 T C 13: 76,973,392 (GRCm39) V431A probably benign Het
Metap2 C T 10: 93,707,345 (GRCm39) probably null Het
Mfsd2b T A 12: 4,920,536 (GRCm39) K94* probably null Het
Micall2 A G 5: 139,705,097 (GRCm39) L79P probably damaging Het
Mucl2 T C 15: 103,927,673 (GRCm39) T95A possibly damaging Het
Myo15a A T 11: 60,396,832 (GRCm39) T2634S probably damaging Het
Myo5b G T 18: 74,873,574 (GRCm39) V1467L probably damaging Het
Nfic G T 10: 81,256,414 (GRCm39) D105E probably damaging Het
Nrdc T A 4: 108,873,865 (GRCm39) F227Y probably benign Het
Nrp2 A T 1: 62,777,458 (GRCm39) I88F probably damaging Het
Nup160 A T 2: 90,530,887 (GRCm39) H515L probably benign Het
Nup205 G A 6: 35,202,917 (GRCm39) probably null Het
Oas1g G A 5: 121,020,069 (GRCm39) T179I probably benign Het
Ogfr A T 2: 180,236,543 (GRCm39) E376V probably damaging Het
Or2l13 T G 16: 19,306,378 (GRCm39) S263R probably benign Het
Or4a69 A T 2: 89,312,855 (GRCm39) V208D possibly damaging Het
Or4c107 T G 2: 88,789,387 (GRCm39) Y192* probably null Het
Or52d1 G T 7: 103,755,896 (GRCm39) V137F possibly damaging Het
Or5p6 C T 7: 107,631,595 (GRCm39) probably null Het
Pard3b T C 1: 62,384,188 (GRCm39) V851A probably benign Het
Pcdhb16 A T 18: 37,611,142 (GRCm39) Y34F probably damaging Het
Pikfyve T C 1: 65,290,825 (GRCm39) Y1215H probably damaging Het
Pkhd1 A T 1: 20,593,565 (GRCm39) V1516E probably damaging Het
Ptprg A T 14: 12,190,767 (GRCm38) I818F probably benign Het
Ralgapb A G 2: 158,304,173 (GRCm39) E644G possibly damaging Het
Rbm45 A G 2: 76,202,459 (GRCm39) I127M probably damaging Het
Rtp2 T C 16: 23,746,220 (GRCm39) Y157C probably damaging Het
Sf3b3 A T 8: 111,564,006 (GRCm39) Y329N probably damaging Het
Sfxn1 A G 13: 54,239,646 (GRCm39) probably null Het
Shkbp1 A T 7: 27,044,751 (GRCm39) C447S probably damaging Het
Sipa1l3 A G 7: 29,021,685 (GRCm39) S689P possibly damaging Het
Slc7a8 A G 14: 54,970,656 (GRCm39) S332P probably damaging Het
Slit1 C A 19: 41,596,823 (GRCm39) C1092F probably damaging Het
Stard9 A G 2: 120,533,678 (GRCm39) I619V possibly damaging Het
Sycp3 T C 10: 88,305,454 (GRCm39) V185A possibly damaging Het
Taar9 A T 10: 23,985,382 (GRCm39) N17K possibly damaging Het
Tbkbp1 T C 11: 97,039,814 (GRCm39) E102G probably damaging Het
Tex44 A G 1: 86,354,834 (GRCm39) N248D probably benign Het
Tmem63b C G 17: 45,989,904 (GRCm39) R88P possibly damaging Het
Tnpo1 C T 13: 98,986,665 (GRCm39) V781I probably benign Het
Ttc6 A G 12: 57,721,463 (GRCm39) K984R possibly damaging Het
Usp34 A G 11: 23,391,171 (GRCm39) E2263G probably damaging Het
Usp8 A G 2: 126,596,847 (GRCm39) K875E probably damaging Het
Vmn1r223 A G 13: 23,434,038 (GRCm39) I211V possibly damaging Het
Vmn2r81 G A 10: 79,129,496 (GRCm39) V796I probably damaging Het
Wdr90 A T 17: 26,073,027 (GRCm39) V856D probably damaging Het
Wnk2 T A 13: 49,235,571 (GRCm39) T615S 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
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
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'- TCTGATTTCAGTGTCACGGGCTTC -3'
(R):5'- CAGAGAAAGGCTGTTCCTTCCGAG -3'

Sequencing Primer
(F):5'- AAAGGTGCTGTAAGATCTGCCTC -3'
(R):5'- TCTAAGGGAAGCCAGCTTATTG -3'
Posted On 2014-03-28