Incidental Mutation 'R1932:Tonsl'
ID 215505
Institutional Source Beutler Lab
Gene Symbol Tonsl
Ensembl Gene ENSMUSG00000059323
Gene Name tonsoku-like, DNA repair protein
Synonyms Nfkbil2, 2810439M11Rik
MMRRC Submission 039950-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1932 (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 76508797 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 21 (Y21N)
Ref Sequence ENSEMBL: ENSMUSP00000077856 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000078803] [ENSMUST00000168185] [ENSMUST00000229019]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000078803
AA Change: Y21N

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000077856
Gene: ENSMUSG00000115987
AA Change: Y21N

DomainStartEndE-ValueType
Pfam:VPS28 39 219 2.2e-70 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163990
Predicted Effect probably benign
Transcript: ENSMUST00000165163
SMART Domains Protein: ENSMUSP00000131229
Gene: ENSMUSG00000059323

DomainStartEndE-ValueType
low complexity region 33 51 N/A INTRINSIC
low complexity region 52 62 N/A INTRINSIC
Predicted Effect probably benign
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 probably benign
Transcript: ENSMUST00000229019
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229052
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229261
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 97.0%
  • 10x: 95.6%
  • 20x: 93.3%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 T A 9: 44,190,691 (GRCm39) Q278H probably benign Het
Ace3 T C 11: 105,895,436 (GRCm39) probably null Het
Aco1 T C 4: 40,176,499 (GRCm39) V221A probably damaging Het
Adamts20 T A 15: 94,301,891 (GRCm39) H27L probably benign Het
Adamts8 A G 9: 30,867,808 (GRCm39) D544G probably benign Het
Angptl4 C A 17: 34,000,249 (GRCm39) E40* probably null Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atf7ip2 T A 16: 10,059,567 (GRCm39) I369N possibly damaging Het
Atp6ap1l T A 13: 91,031,806 (GRCm39) Y292F probably damaging Het
Atp6v1b2 A T 8: 69,555,459 (GRCm39) K217* probably null Het
Bid C T 6: 120,874,216 (GRCm39) A110T possibly damaging Het
Blvra T A 2: 126,937,068 (GRCm39) W174R probably damaging Het
Catsperg1 C T 7: 28,897,568 (GRCm39) G239R probably damaging Het
Ccdc157 G T 11: 4,096,549 (GRCm39) A400D probably damaging Het
Chd2 G T 7: 73,104,193 (GRCm39) P1298T probably damaging Het
CK137956 G A 4: 127,840,651 (GRCm39) L352F possibly damaging Het
Col22a1 G A 15: 71,741,989 (GRCm39) P503S unknown Het
Cox15 C T 19: 43,735,224 (GRCm39) R181H probably benign Het
Crem C T 18: 3,299,284 (GRCm39) G47R probably benign Het
Crygs T A 16: 22,625,304 (GRCm39) T46S probably benign Het
Cts8 T A 13: 61,401,429 (GRCm39) H62L probably damaging Het
Cyp4a32 T A 4: 115,468,474 (GRCm39) F319I possibly damaging Het
Dchs1 T C 7: 105,415,109 (GRCm39) S692G probably damaging Het
Ddx23 G A 15: 98,548,599 (GRCm39) R370W possibly damaging Het
Defa29 A T 8: 21,816,865 (GRCm39) S43T probably damaging Het
Dnajc14 A G 10: 128,652,661 (GRCm39) D573G probably damaging Het
Drd5 A G 5: 38,477,319 (GRCm39) Y104C probably benign Het
Efcab7 C T 4: 99,768,215 (GRCm39) P102L probably damaging Het
Efhc1 A G 1: 21,037,624 (GRCm39) Y267C probably damaging Het
Eif2ak4 T C 2: 118,278,967 (GRCm39) Y243H probably damaging Het
Gfm2 T A 13: 97,278,475 (GRCm39) I7N probably damaging Het
Gmds A G 13: 32,311,980 (GRCm39) F150L possibly damaging Het
Gp2 T C 7: 119,053,455 (GRCm39) T169A possibly damaging Het
Grb14 A G 2: 64,743,146 (GRCm39) F508L probably damaging Het
Hdac5 T A 11: 102,086,698 (GRCm39) probably benign Het
Heatr1 T A 13: 12,450,066 (GRCm39) M620K probably damaging Het
Herc3 A G 6: 58,853,778 (GRCm39) E608G probably damaging Het
Hoxb4 T C 11: 96,210,867 (GRCm39) Y156H probably damaging Het
Ifi205 T A 1: 173,855,980 (GRCm39) I17F possibly damaging Het
Il2rb A T 15: 78,375,977 (GRCm39) S25T possibly damaging Het
Kansl1 T C 11: 104,225,923 (GRCm39) T998A probably damaging Het
Kcna6 G T 6: 126,715,451 (GRCm39) H479Q probably benign Het
Kif2a T C 13: 107,114,599 (GRCm39) K350R probably benign Het
Lct G T 1: 128,221,898 (GRCm39) A1547E probably damaging Het
Lhx9 T A 1: 138,769,747 (GRCm39) probably benign Het
Lingo1 T A 9: 56,526,934 (GRCm39) I552F possibly damaging Het
Lrp4 G A 2: 91,327,700 (GRCm39) W1516* probably null Het
Lrp5 C T 19: 3,660,131 (GRCm39) V978I probably benign Het
Ltbp1 T A 17: 75,620,029 (GRCm39) D719E probably benign Het
Ltbp4 A G 7: 27,007,191 (GRCm39) probably null Het
Macf1 A G 4: 123,345,830 (GRCm39) I1326T probably damaging Het
Manba T C 3: 135,250,501 (GRCm39) F376S probably benign Het
Mink1 T C 11: 70,499,254 (GRCm39) probably null Het
Nfatc2ip C T 7: 125,984,164 (GRCm39) V410I probably damaging Het
Nlrp1b A T 11: 71,072,964 (GRCm39) I293N probably damaging Het
Or10aa3 T C 1: 173,878,244 (GRCm39) Y102H probably damaging Het
Otol1 A C 3: 69,935,437 (GRCm39) E476D probably benign Het
Pcdhb4 C T 18: 37,442,594 (GRCm39) P635S probably benign Het
Pfkfb4 T A 9: 108,828,237 (GRCm39) F91I probably damaging Het
Polq G A 16: 36,882,666 (GRCm39) R1610Q possibly damaging Het
Polr3c A T 3: 96,626,614 (GRCm39) L270H probably damaging Het
Ppp1r15b C T 1: 133,059,363 (GRCm39) probably benign Het
Prkca T G 11: 108,082,975 (GRCm39) D90A probably benign Het
Sall3 T C 18: 81,012,968 (GRCm39) D1156G probably benign Het
Scn7a A T 2: 66,506,446 (GRCm39) L1481H probably damaging Het
Selenon A T 4: 134,271,929 (GRCm39) I292N probably damaging Het
Sema6d T A 2: 124,501,806 (GRCm39) probably null Het
Sgpp1 G T 12: 75,762,953 (GRCm39) Y409* probably null Het
Sh3pxd2a A G 19: 47,255,947 (GRCm39) S924P probably benign Het
Slc25a13 A G 6: 6,042,264 (GRCm39) V638A probably benign Het
Snhg11 T C 2: 158,218,746 (GRCm39) probably benign Het
Sorbs2 A G 8: 46,249,389 (GRCm39) Q800R probably benign Het
Srf C A 17: 46,860,912 (GRCm39) G401C probably damaging Het
Stradb A C 1: 59,030,264 (GRCm39) N173H probably benign Het
Swap70 C T 7: 109,878,470 (GRCm39) A480V possibly damaging Het
Sycp2 A G 2: 178,023,750 (GRCm39) V422A probably damaging Het
Taf4 G A 2: 179,573,822 (GRCm39) T682M probably damaging Het
Tet3 T C 6: 83,381,361 (GRCm39) N269S possibly damaging Het
Thap12 A T 7: 98,366,045 (GRCm39) I738F possibly damaging Het
Tiam2 C T 17: 3,565,000 (GRCm39) R1413C possibly damaging Het
Tmem229a A T 6: 24,955,010 (GRCm39) F248Y probably damaging Het
Tmprss7 G A 16: 45,504,956 (GRCm39) Q145* probably null Het
Tnc A T 4: 63,911,262 (GRCm39) probably null Het
Tpr A G 1: 150,297,414 (GRCm39) D1009G probably benign Het
Trpm2 G A 10: 77,776,992 (GRCm39) A435V probably damaging Het
Ubr3 T A 2: 69,783,820 (GRCm39) probably null Het
Vcan T C 13: 89,853,653 (GRCm39) N436D possibly damaging Het
Vmn2r104 T A 17: 20,261,031 (GRCm39) Y464F probably damaging Het
Vmn2r44 T A 7: 8,370,981 (GRCm39) R688S probably benign Het
Wdr74 G T 19: 8,715,311 (GRCm39) V157L probably benign Het
Wnt7a T A 6: 91,371,530 (GRCm39) D144V probably benign Het
Zfp106 C T 2: 120,362,162 (GRCm39) A986T possibly 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
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'- GCGTGGCAGCTTAGACTTACTTC -3'
(R):5'- AACTACAGTCATGTTGGCGG -3'

Sequencing Primer
(F):5'- GGCAGCTTAGACTTACTTCTCCCG -3'
(R):5'- ACCTAGCAATCTGTATGTAGCC -3'
Posted On 2014-07-14