Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02977:Tonsl'

406420

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 #

IGL02977

Quality Score

Status

Chromosome

Chromosomal Location

76510437-76524129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76517073 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 882 (Q882L)

Ref Sequence

ENSEMBL: ENSMUSP00000129597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165190] [ENSMUST00000168185]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163161

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163990

Predicted Effect

probably benign
Transcript: ENSMUST00000165163

SMART Domains

Protein: ENSMUSP00000131229
Gene: ENSMUSG00000059323

Domain	Start	End	E-Value	Type
low complexity region	33	51	N/A	INTRINSIC
low complexity region	52	62	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000165190

SMART Domains

Protein: ENSMUSP00000131368
Gene: ENSMUSG00000059323

Domain	Start	End	E-Value	Type
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: ENSMUST00000168185
AA Change: Q882L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: Q882L

Domain	Start	End	E-Value	Type
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: 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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	C	T	8: 125,587,930 (GRCm39)	V57M	probably benign	Het
4933440M02Rik	T	A	7: 124,930,874 (GRCm39)		noncoding transcript	Het
Bmp5	A	G	9: 75,801,081 (GRCm39)	T404A	probably damaging	Het
Cep192	T	C	18: 67,985,976 (GRCm39)	V1660A	probably damaging	Het
Csmd2	C	A	4: 128,387,069 (GRCm39)	Y2121*	probably null	Het
Daam1	G	A	12: 71,990,946 (GRCm39)	A187T	unknown	Het
Dnaja4	T	C	9: 54,621,794 (GRCm39)	L343P	possibly damaging	Het
Dym	T	C	18: 75,196,246 (GRCm39)		probably null	Het
F5	A	T	1: 164,021,590 (GRCm39)	D1355V	probably damaging	Het
Fcgbpl1	C	T	7: 27,863,797 (GRCm39)	T2523M	possibly damaging	Het
Gcnt1	A	T	19: 17,306,738 (GRCm39)	I329N	probably damaging	Het
Gm10110	T	C	14: 90,134,768 (GRCm39)		noncoding transcript	Het
Hdgfl2	A	G	17: 56,406,319 (GRCm39)	N569S	possibly damaging	Het
Hivep1	T	C	13: 42,309,412 (GRCm39)	S551P	possibly damaging	Het
Hpse2	G	A	19: 42,777,561 (GRCm39)		probably benign	Het
Hspe1	T	C	1: 55,130,232 (GRCm39)	Y88H	probably benign	Het
Ifi44	A	T	3: 151,445,016 (GRCm39)	M312K	probably benign	Het
Lrp1b	T	G	2: 40,620,747 (GRCm39)	D3577A	probably damaging	Het
Mapk13	G	T	17: 28,995,322 (GRCm39)	G181V	probably damaging	Het
Oprl1	G	T	2: 181,360,304 (GRCm39)	C115F	probably damaging	Het
Or4d1	A	G	11: 87,804,956 (GRCm39)	S259P	possibly damaging	Het
Or5d37	T	C	2: 87,923,915 (GRCm39)	I122V	probably benign	Het
Psg22	A	G	7: 18,453,524 (GRCm39)	D112G	probably benign	Het
Rp1l1	T	A	14: 64,265,599 (GRCm39)	I395N	probably benign	Het
Simc1	T	C	13: 54,674,120 (GRCm39)	S823P	probably benign	Het
Slc9b1	T	C	3: 135,103,484 (GRCm39)	L538P	probably damaging	Het
Smad2	T	A	18: 76,422,235 (GRCm39)	Y216N	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Trav13-2	C	T	14: 53,872,764 (GRCm39)	T80I	probably damaging	Het
Uaca	C	T	9: 60,773,662 (GRCm39)	P388S	probably benign	Het
Vmn2r116	A	G	17: 23,607,748 (GRCm39)	R439G	possibly damaging	Het
Vmn2r18	C	A	5: 151,510,149 (GRCm39)	A75S	probably damaging	Het

Other mutations in Tonsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2016-08-02