Mutagenetix > Incidental Mutation

Incidental Mutation 'R4840:Tonsl'

371775

Institutional Source

Beutler Lab

Gene Symbol

Tonsl

Ensembl Gene

ENSMUSG00000059323

Gene Name

tonsoku-like, DNA repair protein

Synonyms

Nfkbil2, 2810439M11Rik

MMRRC Submission

042453-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4840 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76510437-76524129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76517409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 770 (V770A)

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: V770A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: V770A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

97% (114/117)

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810459M11Rik	C	A	1: 85,974,166 (GRCm39)	T161K	probably benign	Het
Actn3	G	A	19: 4,914,539 (GRCm39)	R530W	probably damaging	Het
Alg11	C	T	8: 22,558,026 (GRCm39)	A404V	possibly damaging	Het
Alkbh8	T	A	9: 3,369,751 (GRCm39)	V340D	probably damaging	Het
Arhgef12	T	C	9: 42,886,364 (GRCm39)	H1166R	probably benign	Het
Aspm	T	A	1: 139,398,269 (GRCm39)	D978E	possibly damaging	Het
Bod1l	C	T	5: 41,975,815 (GRCm39)	G1833D	probably damaging	Het
Brd3	A	G	2: 27,339,251 (GRCm39)	V676A	possibly damaging	Het
Brip1	G	A	11: 86,037,009 (GRCm39)	T454I	possibly damaging	Het
C3ar1	T	C	6: 122,827,723 (GRCm39)	I165V	probably benign	Het
Camta1	T	A	4: 151,228,864 (GRCm39)	Q656L	probably benign	Het
Casp14	A	T	10: 78,549,178 (GRCm39)	L256*	probably null	Het
Cdh23	G	T	10: 60,255,556 (GRCm39)	H773Q	possibly damaging	Het
Chd1	G	T	17: 15,989,016 (GRCm39)	D1590Y	probably damaging	Het
Chd1	G	A	17: 15,989,015 (GRCm39)	W1589*	probably null	Het
Cldn19	A	G	4: 119,112,951 (GRCm39)	Q61R	probably damaging	Het
Cyp2a22	A	G	7: 26,631,949 (GRCm39)	S436P	probably benign	Het
Emc10	A	C	7: 44,142,051 (GRCm39)	V124G	probably damaging	Het
Enam	A	T	5: 88,650,885 (GRCm39)	D723V	probably benign	Het
Eps8	C	A	6: 137,504,128 (GRCm39)	Q158H	probably damaging	Het
Ercc6	G	A	14: 32,263,253 (GRCm39)	D486N	probably damaging	Het
Fasn	T	C	11: 120,703,885 (GRCm39)	E1485G	possibly damaging	Het
Fat2	T	C	11: 55,169,844 (GRCm39)	K2972E	probably benign	Het
Fbxw28	T	C	9: 109,168,602 (GRCm39)	K30R	probably null	Het
Flot2	T	A	11: 77,948,339 (GRCm39)	L164Q	probably damaging	Het
Fsip2	A	T	2: 82,779,739 (GRCm39)	I162L	probably benign	Het
Fsip2	A	T	2: 82,815,815 (GRCm39)	L3849F	probably benign	Het
Gabrb1	C	G	5: 71,858,154 (GRCm39)	P60R	probably damaging	Het
Galnt14	T	C	17: 73,811,893 (GRCm39)	R443G	probably benign	Het
Gas8	C	T	8: 124,257,753 (GRCm39)	T400M	probably benign	Het
Gfap	T	C	11: 102,785,214 (GRCm39)	Y254C	probably damaging	Het
Git2	A	G	5: 114,883,543 (GRCm39)	S396P	probably damaging	Het
Glb1l3	A	T	9: 26,740,349 (GRCm39)	M327K	probably benign	Het
Gm10715	A	C	9: 3,038,062 (GRCm39)		probably benign	Het
Gm10787	G	A	10: 76,857,841 (GRCm39)		noncoding transcript	Het
Gm1123	T	A	9: 98,900,622 (GRCm39)	D78V	probably damaging	Het
Gm27013	T	C	6: 130,655,079 (GRCm39)	T128A	probably benign	Het
Gpbp1	A	G	13: 111,577,164 (GRCm39)		probably null	Het
Gphn	G	A	12: 78,569,729 (GRCm39)		probably null	Het
Gpr157	A	G	4: 150,186,823 (GRCm39)	E317G	probably benign	Het
Gsdmc4	T	A	15: 63,765,596 (GRCm39)	M318L	probably benign	Het
Gtf2f2	A	T	14: 76,248,131 (GRCm39)	W19R	probably damaging	Het
Gvin-ps3	T	C	7: 105,680,627 (GRCm39)		noncoding transcript	Het
Helb	A	G	10: 119,920,763 (GRCm39)	V1060A	probably benign	Het
Igfn1	C	T	1: 135,895,778 (GRCm39)	G1596D	probably benign	Het
Il1rl2	T	C	1: 40,366,547 (GRCm39)	I27T	possibly damaging	Het
Inpp5j	A	G	11: 3,449,676 (GRCm39)	V702A	probably damaging	Het
Kmt2d	A	C	15: 98,759,775 (GRCm39)	V1161G	unknown	Het
Krtap1-3	T	G	11: 99,481,715 (GRCm39)	Y144S	possibly damaging	Het
Layn	C	T	9: 50,968,682 (GRCm39)	V354M	probably damaging	Het
Lrba	G	A	3: 86,526,816 (GRCm39)		probably null	Het
Lrp8	T	A	4: 107,727,234 (GRCm39)	L893Q	possibly damaging	Het
Mrps9	T	A	1: 42,937,575 (GRCm39)		probably benign	Het
Mug1	T	A	6: 121,862,813 (GRCm39)	M1387K	probably damaging	Het
Myo18b	A	C	5: 113,021,895 (GRCm39)	V499G	probably benign	Het
Nbea	T	C	3: 55,618,091 (GRCm39)	E2321G	probably benign	Het
Nrsn2	C	T	2: 152,211,552 (GRCm39)	V160I	probably benign	Het
Nup210	G	A	6: 91,008,650 (GRCm39)	Q510*	probably null	Het
Ofcc1	G	A	13: 40,168,864 (GRCm39)	T841I	probably damaging	Het
Or2ag12	T	G	7: 106,277,330 (GRCm39)	D121A	probably damaging	Het
P3h3	G	T	6: 124,827,600 (GRCm39)	Q479K	possibly damaging	Het
Paqr9	T	A	9: 95,442,723 (GRCm39)	F238I	probably damaging	Het
Parp3	A	T	9: 106,350,308 (GRCm39)	L343H	probably damaging	Het
Pcdh18	A	C	3: 49,699,117 (GRCm39)	M1115R	probably damaging	Het
Pcdh8	A	G	14: 80,008,308 (GRCm39)	V85A	possibly damaging	Het
Pcdhb4	A	G	18: 37,441,452 (GRCm39)	N254S	possibly damaging	Het
Pld1	T	C	3: 28,130,700 (GRCm39)	V500A	probably benign	Het
Pramel29	T	C	4: 143,935,144 (GRCm39)	K199R	probably damaging	Het
Prkg2	A	T	5: 99,129,002 (GRCm39)	D311E	probably benign	Het
Prss42	T	C	9: 110,628,369 (GRCm39)	L171P	probably damaging	Het
Pth2	T	A	7: 44,830,767 (GRCm39)	L17H	probably damaging	Het
Reln	A	T	5: 22,223,844 (GRCm39)		probably null	Het
Rmi2	G	T	16: 10,657,701 (GRCm39)	V104L	probably damaging	Het
Rpusd4	T	A	9: 35,179,831 (GRCm39)	V108D	probably damaging	Het
Rufy4	C	A	1: 74,168,198 (GRCm39)	T82K	possibly damaging	Het
Scimp	G	A	11: 70,682,294 (GRCm39)	Q141*	probably null	Het
Sel1l2	T	C	2: 140,105,390 (GRCm39)	T267A	probably benign	Het
Sema5a	T	A	15: 32,550,400 (GRCm39)	S146R	possibly damaging	Het
Sh2d3c	T	C	2: 32,611,172 (GRCm39)	M1T	probably null	Het
Slc30a6	T	C	17: 74,712,716 (GRCm39)	L71P	probably damaging	Het
Srrm3	A	G	5: 135,883,449 (GRCm39)	Y224C	possibly damaging	Het
Tacr3	A	T	3: 134,560,615 (GRCm39)	T185S	possibly damaging	Het
Tas2r140	T	A	6: 133,032,528 (GRCm39)	T77S	probably benign	Het
Thsd7b	T	C	1: 129,523,581 (GRCm39)	V128A	probably benign	Het
Tnfrsf10b	T	G	14: 70,013,608 (GRCm39)	H179Q	probably damaging	Het
Trim42	G	A	9: 97,244,982 (GRCm39)	P606L	probably benign	Het
Trim45	A	T	3: 100,832,804 (GRCm39)	T346S	possibly damaging	Het
Ttc28	C	A	5: 111,433,947 (GRCm39)	S2296Y	probably damaging	Het
Ttc41	C	T	10: 86,566,989 (GRCm39)	R552C	probably benign	Het
Tube1	A	G	10: 39,020,842 (GRCm39)	N243D	probably benign	Het
Tvp23b	G	T	11: 62,770,424 (GRCm39)		probably null	Het
Ubxn11	T	A	4: 133,836,919 (GRCm39)	I49N	probably damaging	Het
Usp17le	T	A	7: 104,418,977 (GRCm39)	E55V	probably benign	Het
Vmn2r114	A	T	17: 23,510,353 (GRCm39)	V709D	probably damaging	Het
Vmn2r129	G	C	4: 156,685,733 (GRCm39)		noncoding transcript	Het
Vmn2r23	C	T	6: 123,690,033 (GRCm39)	T303M	probably damaging	Het
Vmn2r60	C	T	7: 41,785,285 (GRCm39)	P166S	probably damaging	Het
Vmn2r83	A	G	10: 79,313,682 (GRCm39)	I97V	possibly damaging	Het
Wbp2nl	A	T	15: 82,198,537 (GRCm39)	K358M	possibly damaging	Het
Xpo1	T	A	11: 23,228,183 (GRCm39)	I150N	probably damaging	Het
Zfp113	G	A	5: 138,143,687 (GRCm39)	L188F	probably damaging	Het
Zfp189	T	G	4: 49,529,984 (GRCm39)	S362R	probably damaging	Het
Zfp593os	A	G	4: 133,972,587 (GRCm39)		probably benign	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
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
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'- TCGCTCATAGTCTGACACCG -3'
(R):5'- GGCCCCTGCTAAAGTCTTTC -3'

Sequencing Primer
(F):5'- GTCAGAGGTGTATCTACCTCCAG -3'
(R):5'- CCTGCTAAAGTCTTTCTGGAGGAAAC -3'

Posted On

2016-03-01