Incidental Mutation 'IGL00093:Tonsl'
ID 908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tonsl
Ensembl Gene ENSMUSG00000059323
Gene Name tonsoku-like, DNA repair protein
Synonyms Nfkbil2, 2810439M11Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00093
Quality Score
Status
Chromosome 15
Chromosomal Location 76510437-76524129 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76522696 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 185 (F185S)
Ref Sequence ENSEMBL: ENSMUSP00000129597 (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 possibly damaging
Transcript: ENSMUST00000165190
AA Change: F185S

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000131368
Gene: ENSMUSG00000059323
AA Change: F185S

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 possibly damaging
Transcript: ENSMUST00000168185
AA Change: F185S

PolyPhen 2 Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: F185S

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
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2510009E07Rik T C 16: 21,472,310 (GRCm39) D60G probably damaging Het
Abca2 T A 2: 25,335,975 (GRCm39) probably null Het
Adamts14 C T 10: 61,065,455 (GRCm39) R348H probably damaging Het
Aimp2 A T 5: 143,843,524 (GRCm39) I22N probably damaging Het
Cacna1c A G 6: 118,653,405 (GRCm39) probably benign Het
Cfap221 A T 1: 119,860,575 (GRCm39) Y684N possibly damaging Het
Cfap300 A G 9: 8,022,433 (GRCm39) V263A probably benign Het
Cldn6 T A 17: 23,900,698 (GRCm39) probably benign Het
Copb2 A G 9: 98,450,130 (GRCm39) M30V probably benign Het
Dcaf17 G A 2: 70,908,503 (GRCm39) E243K probably benign Het
Dhx35 T C 2: 158,669,836 (GRCm39) Y257H probably damaging Het
Dnai3 C T 3: 145,788,759 (GRCm39) G274E probably benign Het
Dzank1 A T 2: 144,323,645 (GRCm39) Y600* probably null Het
Flvcr1 T A 1: 190,747,686 (GRCm39) R201* probably null Het
Fstl4 G A 11: 53,077,102 (GRCm39) V620I probably benign Het
Gm21976 G A 13: 98,439,069 (GRCm39) V20M probably benign Het
Ifi208 T C 1: 173,506,604 (GRCm39) probably null Het
Kdm4c T C 4: 74,263,738 (GRCm39) V674A probably benign Het
Lig1 T A 7: 13,035,378 (GRCm39) Y612* probably null Het
Marco A G 1: 120,413,432 (GRCm39) V295A probably benign Het
Myo5c T C 9: 75,150,162 (GRCm39) probably benign Het
Or1e34 A G 11: 73,779,075 (GRCm39) L41P probably damaging Het
Or51a42 T C 7: 103,708,623 (GRCm39) Y62C probably damaging Het
Or6c217 T A 10: 129,738,528 (GRCm39) D17V possibly damaging Het
Pkd1l1 A G 11: 8,911,971 (GRCm39) M245T unknown Het
Pomt1 A G 2: 32,131,784 (GRCm39) I158V probably benign Het
Ptpn21 A G 12: 98,646,727 (GRCm39) W967R probably damaging Het
Rrp12 A T 19: 41,875,533 (GRCm39) M270K possibly damaging Het
Spats2 A G 15: 99,078,474 (GRCm39) E179G possibly damaging Het
Tapbp T C 17: 34,138,866 (GRCm39) V11A probably benign Het
Tasor T G 14: 27,170,163 (GRCm39) L364R probably damaging Het
Trpm1 A G 7: 63,893,198 (GRCm39) I901V probably damaging Het
Tulp2 A G 7: 45,171,332 (GRCm39) N371S probably damaging Het
Unc5d A T 8: 29,209,854 (GRCm39) V433D probably damaging Het
Wasf3 G A 5: 146,392,461 (GRCm39) R177Q probably damaging Het
Zfp715 A T 7: 42,949,173 (GRCm39) H262Q possibly damaging Het
Zftraf1 A G 15: 76,530,738 (GRCm39) I194T probably damaging Het
Other mutations in Tonsl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2011-07-12