Mutagenetix > Incidental Mutation

Incidental Mutation 'R4825:Tonsl'

371460

Institutional Source

Beutler Lab

Gene Symbol

Tonsl

Ensembl Gene

ENSMUSG00000059323

Gene Name

tonsoku-like, DNA repair protein

Synonyms

Nfkbil2, 2810439M11Rik

MMRRC Submission

042441-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4825 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76510437-76524129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76517448 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 757 (S757L)

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: S757L

PolyPhen 2 Score 0.338 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: S757L

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

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.8%

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: 130 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	C	A	11: 109,682,498 (GRCm39)	L229F	probably benign	Het
A930002H24Rik	A	C	17: 64,170,603 (GRCm39)	S62A	unknown	Het
Abca12	T	A	1: 71,341,844 (GRCm39)	Q1039L	possibly damaging	Het
Adgrg5	T	A	8: 95,668,362 (GRCm39)	F476I	possibly damaging	Het
Alms1	A	G	6: 85,655,227 (GRCm39)	K2789E	probably damaging	Het
Arrdc2	G	A	8: 71,291,921 (GRCm39)		probably null	Het
Atp2b1	T	A	10: 98,845,426 (GRCm39)	I743K	probably damaging	Het
Atp6v1c2	C	T	12: 17,339,061 (GRCm39)	G230D	probably benign	Het
AU040320	G	A	4: 126,685,586 (GRCm39)	C54Y	probably damaging	Het
BC024139	C	T	15: 76,004,517 (GRCm39)	V680I	possibly damaging	Het
Bckdhb	A	G	9: 83,870,958 (GRCm39)	D156G	probably damaging	Het
Bltp3a	G	A	17: 28,096,368 (GRCm39)	A107T	probably damaging	Het
Canx	T	A	11: 50,199,636 (GRCm39)	D143V	probably benign	Het
Ccdc180	T	A	4: 45,912,794 (GRCm39)	V591E	possibly damaging	Het
Ccno	T	C	13: 113,124,633 (GRCm39)	S68P	probably benign	Het
Cdc45	C	T	16: 18,603,613 (GRCm39)	E527K	probably damaging	Het
Cep290	T	A	10: 100,324,210 (GRCm39)	D14E	probably damaging	Het
Cgnl1	A	G	9: 71,537,806 (GRCm39)	V1238A	probably benign	Het
Ciz1	C	T	2: 32,261,753 (GRCm39)	A455V	probably damaging	Het
Coro2b	T	A	9: 62,361,905 (GRCm39)	Y86F	probably benign	Het
Csf2ra	C	T	19: 61,214,990 (GRCm39)	R158Q	probably benign	Het
Cubn	A	T	2: 13,330,036 (GRCm39)	I2615N	probably damaging	Het
Dhx8	C	T	11: 101,628,996 (GRCm39)	R129*	probably null	Het
Disc1	T	A	8: 125,862,041 (GRCm39)	M471K	possibly damaging	Het
Dmxl2	G	T	9: 54,311,325 (GRCm39)	L1799I	probably benign	Het
Dnah2	A	G	11: 69,314,031 (GRCm39)	S4108P	probably damaging	Het
Ecpas	G	A	4: 58,850,911 (GRCm39)	L421F	probably damaging	Het
Ehmt2	C	G	17: 35,125,940 (GRCm39)	P211R	probably benign	Het
Eif4g3	A	G	4: 137,921,392 (GRCm39)	D1557G	probably benign	Het
Epha5	T	C	5: 84,381,699 (GRCm39)	D384G	probably damaging	Het
Etl4	A	G	2: 20,811,738 (GRCm39)	I1274V	probably damaging	Het
Fhip1a	G	A	3: 85,580,739 (GRCm39)	P489S	possibly damaging	Het
Fip1l1	G	A	5: 74,748,866 (GRCm39)		probably null	Het
Fubp1	T	C	3: 151,923,527 (GRCm39)		probably null	Het
Glul	T	C	1: 153,778,790 (GRCm39)	V33A	probably benign	Het
Gm4846	A	G	1: 166,319,237 (GRCm39)	F167S	probably damaging	Het
Heatr6	T	A	11: 83,649,148 (GRCm39)	L168M	probably damaging	Het
Hif1a	T	A	12: 73,979,175 (GRCm39)	I233N	probably damaging	Het
Hivep2	T	A	10: 14,007,063 (GRCm39)	H1220Q	possibly damaging	Het
Igkv8-21	T	C	6: 70,292,410 (GRCm39)	I9M	probably benign	Het
Izumo1	T	A	7: 45,274,411 (GRCm39)	C62*	probably null	Het
Jakmip3	G	A	7: 138,628,495 (GRCm39)	E424K	probably damaging	Het
Klhl2	A	G	8: 65,205,847 (GRCm39)	V358A	probably damaging	Het
Klk10	C	G	7: 43,433,022 (GRCm39)	D139E	probably damaging	Het
Klk14	T	C	7: 43,341,500 (GRCm39)	C51R	probably damaging	Het
Klk1b5	T	G	7: 43,494,814 (GRCm39)	I99S	probably damaging	Het
L3hypdh	T	C	12: 72,124,167 (GRCm39)	T258A	probably benign	Het
Lrp5	A	G	19: 3,664,292 (GRCm39)	Y812H	probably damaging	Het
Lrrc40	T	A	3: 157,766,967 (GRCm39)	L474*	probably null	Het
Mkks	A	T	2: 136,722,575 (GRCm39)	M194K	probably benign	Het
Mmp20	A	G	9: 7,654,121 (GRCm39)	D347G	probably damaging	Het
Mmp27	A	G	9: 7,581,195 (GRCm39)	E460G	probably damaging	Het
Mms22l	T	C	4: 24,536,226 (GRCm39)	F605S	probably damaging	Het
Mpzl3	A	G	9: 44,979,627 (GRCm39)	S193G	probably benign	Het
Muc4	A	T	16: 32,570,565 (GRCm39)	T542S	probably benign	Het
Muc5b	T	C	7: 141,422,202 (GRCm39)	L4446P	possibly damaging	Het
Mxi1	C	A	19: 53,358,769 (GRCm39)	S131*	probably null	Het
Nanog	G	T	6: 122,690,299 (GRCm39)	A210S	probably benign	Het
Nrcam	C	T	12: 44,622,769 (GRCm39)	Q988*	probably null	Het
Nsg1	C	A	5: 38,316,391 (GRCm39)		probably benign	Het
Ogfod3	G	A	11: 121,086,027 (GRCm39)	A189V	probably benign	Het
Or10g9b	A	T	9: 39,918,038 (GRCm39)	M69K	possibly damaging	Het
Or12e9	T	A	2: 87,202,432 (GRCm39)	C185*	probably null	Het
Or4a68	A	G	2: 89,270,209 (GRCm39)	V138A	probably benign	Het
Or4c122	T	C	2: 89,079,034 (GRCm39)		probably null	Het
Or4c35	G	A	2: 89,808,497 (GRCm39)	C125Y	probably damaging	Het
Or51ai2	T	C	7: 103,586,710 (GRCm39)	V41A	probably benign	Het
Or52b4i	T	A	7: 102,191,587 (GRCm39)	V148E	possibly damaging	Het
Or5b111	A	T	19: 13,291,684 (GRCm39)		probably null	Het
Or7e165	T	G	9: 19,694,872 (GRCm39)	S148A	possibly damaging	Het
Or8b53	A	T	9: 38,667,703 (GRCm39)	T240S	probably damaging	Het
Orc3	A	T	4: 34,571,774 (GRCm39)	M665K	possibly damaging	Het
Pabpc1	A	G	15: 36,597,255 (GRCm39)	S591P	probably damaging	Het
Pacc1	A	T	1: 191,073,040 (GRCm39)	I154F	probably damaging	Het
Parp6	T	A	9: 59,531,645 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,912 (GRCm39)	M974V	possibly damaging	Het
Pcdhb22	T	A	18: 37,653,713 (GRCm39)	V727E	possibly damaging	Het
Pex5l	T	C	3: 33,047,134 (GRCm39)	E272G	probably damaging	Het
Pglyrp2	G	T	17: 32,637,235 (GRCm39)	N264K	probably benign	Het
Phxr4	T	A	9: 13,342,882 (GRCm39)		probably benign	Het
Piezo2	A	G	18: 63,278,025 (GRCm39)	F293S	probably damaging	Het
Pkhd1	T	C	1: 20,607,625 (GRCm39)	D1077G	probably damaging	Het
Plekhs1	A	G	19: 56,461,700 (GRCm39)		probably null	Het
Prex1	G	T	2: 166,427,777 (GRCm39)	C788*	probably null	Het
Prrt3	A	T	6: 113,475,099 (GRCm39)	M41K	probably benign	Het
Ptgir	T	C	7: 16,642,768 (GRCm39)	V326A	probably damaging	Het
Ptprg	T	A	14: 12,220,654 (GRCm38)	D455E	probably damaging	Het
Ptpru	T	A	4: 131,526,914 (GRCm39)	Q686L	probably benign	Het
Pxdc1	G	T	13: 34,814,343 (GRCm39)	T190K	probably benign	Het
Rap1b	A	T	10: 117,654,487 (GRCm39)	C118S	probably benign	Het
Rapgef2	T	C	3: 78,990,534 (GRCm39)	M915V	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rpe65	C	T	3: 159,330,318 (GRCm39)	A495V	probably benign	Het
Samd15	A	G	12: 87,247,608 (GRCm39)	T98A	possibly damaging	Het
Sdk1	T	G	5: 141,568,049 (GRCm39)	D82E	probably benign	Het
Slc26a7	T	C	4: 14,546,309 (GRCm39)	D340G	probably benign	Het
Slc6a15	T	A	10: 103,253,921 (GRCm39)	M619K	probably benign	Het
Slc7a4	C	A	16: 17,392,385 (GRCm39)	D350Y	probably damaging	Het
Slk	T	G	19: 47,608,395 (GRCm39)	N449K	probably benign	Het
Spta1	A	T	1: 174,071,608 (GRCm39)		probably null	Het
Sptbn5	A	T	2: 119,886,374 (GRCm39)		probably benign	Het
Srd5a2	A	T	17: 74,354,800 (GRCm39)	V8D	probably benign	Het
Srgap3	G	A	6: 112,704,271 (GRCm39)	A906V	probably benign	Het
Stab2	A	T	10: 86,783,011 (GRCm39)	M679K	probably benign	Het
Stk3	T	C	15: 35,000,054 (GRCm39)	I291V	probably benign	Het
Supt6	T	A	11: 78,098,960 (GRCm39)	Q1637L	possibly damaging	Het
Svil	T	C	18: 5,114,564 (GRCm39)	F2047S	probably damaging	Het
Swsap1	A	G	9: 21,867,284 (GRCm39)	E76G	probably benign	Het
Syndig1	G	T	2: 149,741,473 (GRCm39)	G20C	probably damaging	Het
Synj2bp	A	T	12: 81,548,926 (GRCm39)	N104K	probably damaging	Het
Synpo2	T	A	3: 122,908,068 (GRCm39)	D416V	probably damaging	Het
Tacc3	G	T	5: 33,829,357 (GRCm39)	C620F	probably damaging	Het
Tanc1	A	G	2: 59,529,766 (GRCm39)	E19G	probably damaging	Het
Tars3	C	T	7: 65,297,302 (GRCm39)	A139V	probably benign	Het
Tbc1d22a	T	A	15: 86,235,935 (GRCm39)	C365S	probably damaging	Het
Tdpoz2	T	C	3: 93,559,381 (GRCm39)	H197R	possibly damaging	Het
Tha1	A	T	11: 117,760,205 (GRCm39)	N300K	probably damaging	Het
Tm6sf1	T	A	7: 81,515,008 (GRCm39)	F70L	probably damaging	Het
Tmem132b	T	A	5: 125,860,497 (GRCm39)	S581T	probably benign	Het
Tnfsf13	G	T	11: 69,576,075 (GRCm39)	S4*	probably null	Het
Trem2	G	T	17: 48,658,719 (GRCm39)	R161S	possibly damaging	Het
Trpm2	A	T	10: 77,777,007 (GRCm39)	V430E	probably damaging	Het
Ttc14	T	A	3: 33,855,518 (GRCm39)	D154E	possibly damaging	Het
Ugt2b37	T	C	5: 87,398,498 (GRCm39)	M313V	possibly damaging	Het
Vmn2r24	A	G	6: 123,792,739 (GRCm39)	I689V	probably benign	Het
Wdr76	A	G	2: 121,372,975 (GRCm39)	T601A	probably benign	Het
Xirp1	T	C	9: 119,846,069 (GRCm39)	D938G	possibly damaging	Het
Zfp608	A	T	18: 55,031,041 (GRCm39)	D966E	probably benign	Het
Zfp957	A	G	14: 79,451,796 (GRCm39)	M1T	probably null	Het
Zkscan16	A	T	4: 58,957,809 (GRCm39)	H697L	possibly 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
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
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'- TTCCTCCTCGGGAATGAGTG -3'
(R):5'- TAACCATCTATTTGACCCTGAGACC -3'

Sequencing Primer
(F):5'- CTCCTCGGGAATGAGTGCTGTC -3'
(R):5'- GAGACCTCTCCTCCCTCAAG -3'

Posted On

2016-03-01