Mutagenetix > Incidental Mutation

Incidental Mutation 'R7206:Tonsl'

560657

Institutional Source

Beutler Lab

Gene Symbol

Tonsl

Ensembl Gene

ENSMUSG00000059323

Gene Name

tonsoku-like, DNA repair protein

Synonyms

Nfkbil2, 2810439M11Rik

MMRRC Submission

045284-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7206 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76510437-76524129 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76517851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 650 (D650G)

Ref Sequence

ENSEMBL: ENSMUSP00000129597 (fasta)

Gene Model

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

AlphaFold

no structure available at present

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 damaging
Transcript: ENSMUST00000168185
AA Change: D650G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: D650G

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

Meta Mutation Damage Score

0.5646

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (87/88)

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	G	A	3: 59,932,662 (GRCm39)	M392I	probably benign	Het
Aadacl4fm2	T	A	4: 144,285,211 (GRCm39)	D142V	probably damaging	Het
Acr	T	C	15: 89,458,374 (GRCm39)	S352P	probably benign	Het
Adam6a	T	C	12: 113,509,654 (GRCm39)	C676R	probably damaging	Het
Adgra3	T	C	5: 50,164,238 (GRCm39)	D247G	probably damaging	Het
Agxt2	A	T	15: 10,377,542 (GRCm39)	E147D	probably damaging	Het
Atp2a1	T	C	7: 126,047,144 (GRCm39)	T805A	probably benign	Het
Atp8b4	T	C	2: 126,300,212 (GRCm39)	S106G	probably damaging	Het
Ccdc170	T	A	10: 4,464,120 (GRCm39)	M87K	possibly damaging	Het
Ccnl2	T	G	4: 155,905,431 (GRCm39)	V287G	possibly damaging	Het
Ccr6	A	T	17: 8,475,781 (GRCm39)	M329L	probably benign	Het
Cflar	G	T	1: 58,780,150 (GRCm39)	M248I		Het
Cib4	A	T	5: 30,703,110 (GRCm39)	L5*	probably null	Het
Col27a1	A	T	4: 63,153,583 (GRCm39)	Y645F	probably benign	Het
Cxcr2	A	G	1: 74,198,213 (GRCm39)	T236A	possibly damaging	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnah7a	A	T	1: 53,737,792 (GRCm39)	L47*	probably null	Het
Dnajb6	A	C	5: 29,986,335 (GRCm39)	K301T	possibly damaging	Het
Dpf2	T	A	19: 5,954,571 (GRCm39)	I157F	possibly damaging	Het
Drd4	G	A	7: 140,872,032 (GRCm39)	G28R	probably damaging	Het
Dus3l	A	T	17: 57,074,807 (GRCm39)	I310F	probably damaging	Het
Dusp29	A	G	14: 21,727,102 (GRCm39)	V182A	probably damaging	Het
Eef1akmt3	A	G	10: 126,876,862 (GRCm39)	L95P	probably damaging	Het
Fabp7	C	T	10: 57,661,087 (GRCm39)		probably benign	Het
Fam135a	T	C	1: 24,069,354 (GRCm39)	N505S	probably benign	Het
Fam216b	C	A	14: 78,322,567 (GRCm39)	D46Y	probably damaging	Het
Gata6	C	T	18: 11,054,850 (GRCm39)	R260C	probably damaging	Het
Gm10800	A	AC	2: 98,497,378 (GRCm39)		probably null	Het
Golgb1	A	G	16: 36,734,111 (GRCm39)	I1160M	probably benign	Het
Hjv	A	T	3: 96,435,444 (GRCm39)	D234V	probably damaging	Het
Kiss1	A	G	1: 133,255,063 (GRCm39)	K26E	probably benign	Het
Knl1	T	A	2: 118,899,780 (GRCm39)	F494I	probably benign	Het
Ktn1	T	C	14: 47,932,985 (GRCm39)	L713S	probably damaging	Het
Loxhd1	A	G	18: 77,529,513 (GRCm39)	D2052G	probably damaging	Het
Lpo	A	C	11: 87,698,249 (GRCm39)	L582R	probably damaging	Het
Map2k3	A	G	11: 60,834,406 (GRCm39)	T125A		Het
Matn3	T	A	12: 9,011,170 (GRCm39)	N360K	probably benign	Het
Mlip	A	T	9: 77,072,144 (GRCm39)	V237E	probably damaging	Het
Mms22l	T	C	4: 24,591,146 (GRCm39)	V999A	probably benign	Het
Mn1	A	G	5: 111,568,378 (GRCm39)	K783E	possibly damaging	Het
Myo1h	A	T	5: 114,457,836 (GRCm39)	K132*	probably null	Het
Nle1	A	G	11: 82,795,757 (GRCm39)	V230A	probably benign	Het
Or1ak2	T	A	2: 36,827,784 (GRCm39)	Y218N	probably damaging	Het
Or1e1b-ps1	A	T	11: 73,845,647 (GRCm39)	I44F	probably benign	Het
Or4a68	T	C	2: 89,270,801 (GRCm39)		probably benign	Het
Or4f62	T	G	2: 111,986,804 (GRCm39)	C169W	probably damaging	Het
Or51f23	T	C	7: 102,452,891 (GRCm39)	S69P	probably damaging	Het
Or7e169	C	T	9: 19,757,856 (GRCm39)	D20N	probably damaging	Het
Ormdl2	T	A	10: 128,656,284 (GRCm39)	H7L	possibly damaging	Het
Pam	A	G	1: 97,823,757 (GRCm39)	S225P	probably damaging	Het
Pan2	C	A	10: 128,150,414 (GRCm39)	Y719*	probably null	Het
Ppfia4	T	C	1: 134,255,127 (GRCm39)	S243G	probably benign	Het
Ppig	T	G	2: 69,571,910 (GRCm39)	S210A	unknown	Het
Ppwd1	A	T	13: 104,350,106 (GRCm39)	N426K	probably damaging	Het
Prxl2a	T	A	14: 40,726,142 (GRCm39)	M12L	probably benign	Het
Rnf10	T	G	5: 115,382,180 (GRCm39)	D675A	probably benign	Het
Rrp12	A	T	19: 41,866,478 (GRCm39)	L619H	probably damaging	Het
Rsph10b	C	T	5: 143,898,010 (GRCm39)	T497I	possibly damaging	Het
Scnm1	A	T	3: 95,041,205 (GRCm39)	M1K	probably null	Het
Scp2	G	T	4: 107,931,638 (GRCm39)	D332E	probably benign	Het
Senp3	T	C	11: 69,569,557 (GRCm39)	I314V	probably benign	Het
Sfmbt1	T	A	14: 30,533,330 (GRCm39)		probably null	Het
Slc44a2	T	C	9: 21,258,103 (GRCm39)	F451S	probably damaging	Het
Slfn1	A	T	11: 83,012,837 (GRCm39)	M318L	probably benign	Het
Syne2	C	T	12: 76,051,531 (GRCm39)	S4087L	probably benign	Het
Syt7	A	G	19: 10,395,337 (GRCm39)	Y49C	probably damaging	Het
Tas2r134	T	C	2: 51,518,120 (GRCm39)	Y200H	probably benign	Het
Tgfbr1	A	T	4: 47,402,941 (GRCm39)	H315L	probably damaging	Het
Tmem184c	A	G	8: 78,323,206 (GRCm39)	V552A	possibly damaging	Het
Tnxb	A	G	17: 34,923,075 (GRCm39)	R2553G	possibly damaging	Het
Tomm40	C	G	7: 19,444,861 (GRCm39)	R173S	probably benign	Het
Tpo	G	C	12: 30,153,133 (GRCm39)	S407W	possibly damaging	Het
Trank1	T	C	9: 111,174,583 (GRCm39)		probably null	Het
Trp53tg5	T	C	2: 164,313,378 (GRCm39)	E99G	probably damaging	Het
Tubb2a	C	A	13: 34,259,505 (GRCm39)	S95I	possibly damaging	Het
Vav2	C	A	2: 27,226,731 (GRCm39)	R114L	probably benign	Het
Vmn1r172	A	T	7: 23,359,582 (GRCm39)	I156L	possibly damaging	Het
Vmn1r238	A	G	18: 3,122,623 (GRCm39)	Y264H	possibly damaging	Het
Vmn2r26	T	A	6: 124,016,727 (GRCm39)	M397K	probably benign	Het
Vmn2r73	T	C	7: 85,522,075 (GRCm39)	N88S	probably benign	Het
Vps13a	T	C	19: 16,731,662 (GRCm39)	N150S	probably damaging	Het
Vps35	A	T	8: 86,014,350 (GRCm39)	Y100N	probably damaging	Het
Vps8	A	C	16: 21,276,171 (GRCm39)	I235L	probably damaging	Het
Yipf2	T	A	9: 21,501,657 (GRCm39)	H157L	probably damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp503	G	T	14: 22,035,553 (GRCm39)	S454R	possibly damaging	Het
Zfp619	C	T	7: 39,184,824 (GRCm39)	R285C	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
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
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'- CTCAGGGTCAAATAGATGGTTACTTG -3'
(R):5'- TGTGGCCACTTTGAGGTAGC -3'

Sequencing Primer
(F):5'- CAAATAGATGGTTACTTGGAATGGTC -3'
(R):5'- GCCACTTTGAGGTAGCTGAATTACTC -3'

Posted On

2019-06-26