Mutagenetix > Incidental Mutation

Incidental Mutation 'R7615:Tonsl'

588887

Institutional Source

Beutler Lab

Gene Symbol

Tonsl

Ensembl Gene

ENSMUSG00000059323

Gene Name

tonsoku-like, DNA repair protein

Synonyms

Nfkbil2, 2810439M11Rik

MMRRC Submission

045683-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7615 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76626002-76639958 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76630607 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1132 (D1132E)

Ref Sequence

ENSEMBL: ENSMUSP00000129597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078803] [ENSMUST00000165190] [ENSMUST00000168185] [ENSMUST00000229019]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000078803

SMART Domains

Protein: ENSMUSP00000077856
Gene: ENSMUSG00000115987

Domain	Start	End	E-Value	Type
Pfam:VPS28	39	219	2.2e-70	PFAM

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: D1132E

PolyPhen 2 Score 0.442 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129597
Gene: ENSMUSG00000059323
AA Change: D1132E

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

probably benign
Transcript: ENSMUST00000229019

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (101/101)

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: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,497,849 (GRCm38)	I320V	possibly damaging	Het
Adat2	A	G	10: 13,553,276 (GRCm38)	K4R	probably benign	Het
Adgb	G	A	10: 10,436,010 (GRCm38)	L226F	probably damaging	Het
Adgrb3	C	T	1: 25,098,897 (GRCm38)	V1192I	probably damaging	Het
Ahsa2	T	A	11: 23,496,750 (GRCm38)	N71I	possibly damaging	Het
Amigo2	T	G	15: 97,245,342 (GRCm38)	T400P	probably damaging	Het
Ankhd1	A	T	18: 36,656,773 (GRCm38)	Q466L		Het
Auh	T	C	13: 52,919,013 (GRCm38)	I111V	probably benign	Het
Brwd1	A	G	16: 96,033,839 (GRCm38)	F942L	probably damaging	Het
C1qtnf7	A	G	5: 43,616,144 (GRCm38)	N262D	probably damaging	Het
Cdh9	T	A	15: 16,856,230 (GRCm38)	S785R	probably damaging	Het
Celsr3	A	G	9: 108,837,652 (GRCm38)	T2046A	possibly damaging	Het
Cep170b	T	C	12: 112,744,665 (GRCm38)	V1493A	probably damaging	Het
Cep290	C	T	10: 100,492,681 (GRCm38)	R111W	probably benign	Het
Chd2	T	A	7: 73,441,642 (GRCm38)	H1617L	probably damaging	Het
Clnk	T	C	5: 38,706,698 (GRCm38)	D404G	probably damaging	Het
Col18a1	C	T	10: 77,067,005 (GRCm38)	G795D	probably damaging	Het
Csf3r	T	A	4: 126,037,656 (GRCm38)	Y477*	probably null	Het
Ddx58	T	A	4: 40,229,653 (GRCm38)	I89F	possibly damaging	Het
Dnah17	T	A	11: 118,110,547 (GRCm38)	K857*	probably null	Het
Dnah2	T	G	11: 69,435,304 (GRCm38)	I3674L	probably damaging	Het
Dnah6	A	C	6: 73,095,206 (GRCm38)	I2431S	possibly damaging	Het
Eml6	T	A	11: 29,802,501 (GRCm38)	I971F	possibly damaging	Het
Fam135b	A	T	15: 71,463,323 (GRCm38)	I674N	probably damaging	Het
Fancc	T	A	13: 63,317,558 (GRCm38)		probably null	Het
Gabrb2	A	C	11: 42,626,742 (GRCm38)	K464Q	probably benign	Het
Gbp4	T	A	5: 105,122,982 (GRCm38)	D261V	possibly damaging	Het
Gdf3	A	G	6: 122,606,916 (GRCm38)	V164A	probably benign	Het
Gm19410	A	G	8: 35,796,359 (GRCm38)	D978G	probably damaging	Het
Gm20730	C	T	6: 43,081,774 (GRCm38)	G35R	probably null	Het
Gm9733	A	G	3: 15,320,485 (GRCm38)	V119A	probably damaging	Het
Grin2b	G	A	6: 135,923,364 (GRCm38)	T173I	probably damaging	Het
Gtf3c3	A	T	1: 54,423,572 (GRCm38)	V344E	possibly damaging	Het
Hsd3b5	A	G	3: 98,630,104 (GRCm38)	I32T	probably damaging	Het
Ido1	G	C	8: 24,593,188 (GRCm38)	L74V	probably damaging	Het
Igkv1-88	T	A	6: 68,862,373 (GRCm38)	D85V	probably damaging	Het
Il22ra1	A	G	4: 135,737,459 (GRCm38)	I159V	probably benign	Het
Iqgap1	A	G	7: 80,751,346 (GRCm38)	V531A	probably benign	Het
Iqgap1	A	T	7: 80,730,100 (GRCm38)	F1175Y	probably damaging	Het
Itga1	T	A	13: 114,996,922 (GRCm38)	Q484L	probably null	Het
Itga11	A	T	9: 62,744,018 (GRCm38)	E281V	probably benign	Het
Kpna3	T	C	14: 61,372,962 (GRCm38)	N343S	possibly damaging	Het
Larp1b	A	G	3: 41,033,534 (GRCm38)	K64E	possibly damaging	Het
Larp1b	A	G	3: 41,035,816 (GRCm38)	N133S	probably benign	Het
Lctl	T	A	9: 64,122,110 (GRCm38)	L161H	probably damaging	Het
Mlip	A	G	9: 77,230,483 (GRCm38)	S381P	probably damaging	Het
Mroh9	A	G	1: 163,046,032 (GRCm38)	I518T	probably benign	Het
Mst1r	A	G	9: 107,920,012 (GRCm38)	Q1360R	probably benign	Het
Muc5b	T	A	7: 141,864,892 (GRCm38)	C3858*	probably null	Het
Naip1	A	T	13: 100,425,776 (GRCm38)	H960Q	probably benign	Het
Narfl	C	T	17: 25,782,129 (GRCm38)	P452S	probably benign	Het
Neo1	A	T	9: 58,884,503 (GRCm38)	S1321T	probably benign	Het
Nid2	C	A	14: 19,802,530 (GRCm38)	T1102K	probably damaging	Het
Nsmaf	C	T	4: 6,408,563 (GRCm38)	V739M	probably damaging	Het
Olfr1019	T	A	2: 85,841,657 (GRCm38)	M45L	probably benign	Het
Olfr1167	T	C	2: 88,149,518 (GRCm38)	Q167R	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,590 (GRCm38)	I156T	probably damaging	Het
Olfr727	T	G	14: 50,126,989 (GRCm38)	S137R	probably benign	Het
Olfr97	T	G	17: 37,231,450 (GRCm38)	K307Q	probably benign	Het
Osbpl9	G	A	4: 109,086,339 (GRCm38)	P159S	probably damaging	Het
Parpbp	A	G	10: 88,093,637 (GRCm38)	S450P	probably damaging	Het
Pdgfrb	A	G	18: 61,064,046 (GRCm38)	T185A	probably benign	Het
Pkd1	T	C	17: 24,593,502 (GRCm38)	V3803A	probably damaging	Het
Plau	A	T	14: 20,839,466 (GRCm38)	K200*	probably null	Het
Plce1	A	T	19: 38,524,665 (GRCm38)	Q136L	probably benign	Het
Plekhd1	C	T	12: 80,722,445 (GRCm38)	T493I	probably benign	Het
Pofut1	T	C	2: 153,259,418 (GRCm38)	S31P	unknown	Het
Prlr	T	A	15: 10,325,924 (GRCm38)	I243N	probably damaging	Het
Ptgis	A	G	2: 167,223,988 (GRCm38)	L174P	probably damaging	Het
Ralgapb	T	A	2: 158,450,270 (GRCm38)	I792K	probably damaging	Het
Retreg3	C	T	11: 101,102,980 (GRCm38)	S136N	probably damaging	Het
Rnf213	C	T	11: 119,467,297 (GRCm38)	T4291M		Het
Rtn1	A	G	12: 72,304,143 (GRCm38)	Y431H	probably damaging	Het
Rwdd3	A	G	3: 121,171,604 (GRCm38)		probably benign	Het
Scyl3	A	T	1: 163,950,338 (GRCm38)		probably null	Het
Sh2b2	G	T	5: 136,219,657 (GRCm38)	Q510K	probably damaging	Het
Sh2b3	G	A	5: 121,818,700 (GRCm38)	P333S	probably benign	Het
Slc27a6	A	T	18: 58,609,183 (GRCm38)	N490Y	probably damaging	Het
Slc45a1	C	T	4: 150,638,545 (GRCm38)	R294Q	probably benign	Het
Sorl1	A	C	9: 41,977,582 (GRCm38)	I1974S	possibly damaging	Het
Specc1l	C	A	10: 75,263,286 (GRCm38)	N857K	probably benign	Het
Speg	T	C	1: 75,429,242 (GRCm38)	L3030P	probably damaging	Het
Spsb1	A	C	4: 149,906,900 (GRCm38)	D70E	probably benign	Het
Srsf11	A	G	3: 158,016,425 (GRCm38)	S270P	unknown	Het
Ssr3	A	C	3: 65,387,792 (GRCm38)	V100G	probably damaging	Het
Synpo	G	A	18: 60,604,475 (GRCm38)	T133I	probably damaging	Het
Tas2r120	T	G	6: 132,657,810 (GRCm38)	V285G	probably benign	Het
Tenm4	T	A	7: 96,845,926 (GRCm38)	V1187D	probably damaging	Het
Tmed8	C	A	12: 87,181,388 (GRCm38)		probably null	Het
Tmem51	G	A	4: 142,037,564 (GRCm38)	T61M	probably damaging	Het
Tor1aip1	C	T	1: 156,007,584 (GRCm38)	V358I	possibly damaging	Het
Txlna	A	T	4: 129,630,319 (GRCm38)	M415K	probably damaging	Het
Tyms	T	A	5: 30,073,560 (GRCm38)		probably benign	Het
Uggt2	G	T	14: 119,089,269 (GRCm38)	L177I	probably benign	Het
Uqcrh	T	C	4: 116,069,879 (GRCm38)	H74R	probably benign	Het
Wnk1	A	T	6: 119,932,738 (GRCm38)	S33T	probably benign	Het
Zfp553	T	A	7: 127,236,016 (GRCm38)	C248S	probably damaging	Het
Zfp574	G	A	7: 25,080,576 (GRCm38)	C341Y	possibly damaging	Het
Zfp729b	T	C	13: 67,591,498 (GRCm38)	T883A	possibly damaging	Het
Zfp738	T	A	13: 67,670,203 (GRCm38)	K556N	probably damaging	Het

Other mutations in Tonsl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Tonsl	APN	15	76,638,496 (GRCm38)	missense	possibly damaging	0.78
IGL00763:Tonsl	APN	15	76,633,868 (GRCm38)	missense	probably damaging	1.00
IGL00796:Tonsl	APN	15	76,625,149 (GRCm38)	missense	probably benign
IGL00965:Tonsl	APN	15	76,631,880 (GRCm38)	splice site	probably benign
IGL01434:Tonsl	APN	15	76,631,102 (GRCm38)	missense	probably benign	0.11
IGL01859:Tonsl	APN	15	76,634,780 (GRCm38)	missense	probably damaging	0.97
IGL02112:Tonsl	APN	15	76,633,402 (GRCm38)	missense	probably benign	0.01
IGL02189:Tonsl	APN	15	76,623,178 (GRCm38)	missense	possibly damaging	0.56
IGL02281:Tonsl	APN	15	76,634,074 (GRCm38)	missense	probably damaging	1.00
IGL02627:Tonsl	APN	15	76,634,095 (GRCm38)	missense	probably damaging	0.99
IGL02750:Tonsl	APN	15	76,633,389 (GRCm38)	missense	probably damaging	0.97
IGL02977:Tonsl	APN	15	76,632,873 (GRCm38)	missense	probably benign	0.00
R0127:Tonsl	UTSW	15	76,633,485 (GRCm38)	missense	probably benign	0.01
R0316:Tonsl	UTSW	15	76,629,300 (GRCm38)	missense	possibly damaging	0.68
R0443:Tonsl	UTSW	15	76,639,684 (GRCm38)	missense	probably benign
R0714:Tonsl	UTSW	15	76,633,721 (GRCm38)	splice site	probably benign
R0946:Tonsl	UTSW	15	76,623,221 (GRCm38)	missense	probably benign	0.03
R0975:Tonsl	UTSW	15	76,638,932 (GRCm38)	missense	probably damaging	0.99
R1263:Tonsl	UTSW	15	76,622,562 (GRCm38)	missense	possibly damaging	0.85
R1468:Tonsl	UTSW	15	76,636,561 (GRCm38)	critical splice donor site	probably null
R1468:Tonsl	UTSW	15	76,636,561 (GRCm38)	critical splice donor site	probably null
R1610:Tonsl	UTSW	15	76,638,557 (GRCm38)	missense	probably damaging	1.00
R1623:Tonsl	UTSW	15	76,638,509 (GRCm38)	missense	probably damaging	1.00
R1763:Tonsl	UTSW	15	76,638,066 (GRCm38)	missense	probably damaging	1.00
R1882:Tonsl	UTSW	15	76,624,150 (GRCm38)	missense	possibly damaging	0.83
R1898:Tonsl	UTSW	15	76,638,853 (GRCm38)	splice site	probably null
R1932:Tonsl	UTSW	15	76,624,597 (GRCm38)	missense	probably damaging	0.97
R2141:Tonsl	UTSW	15	76,632,661 (GRCm38)	missense	probably damaging	0.99
R2166:Tonsl	UTSW	15	76,637,313 (GRCm38)	missense	probably benign	0.13
R2191:Tonsl	UTSW	15	76,632,680 (GRCm38)	missense	probably damaging	0.96
R2198:Tonsl	UTSW	15	76,636,672 (GRCm38)	missense	probably benign	0.00
R2219:Tonsl	UTSW	15	76,634,640 (GRCm38)	missense	probably damaging	1.00
R2762:Tonsl	UTSW	15	76,630,620 (GRCm38)	missense	probably damaging	1.00
R3156:Tonsl	UTSW	15	76,639,521 (GRCm38)	missense	probably damaging	1.00
R3508:Tonsl	UTSW	15	76,639,756 (GRCm38)	missense	probably benign
R4012:Tonsl	UTSW	15	76,637,044 (GRCm38)	missense	probably damaging	1.00
R4179:Tonsl	UTSW	15	76,624,475 (GRCm38)	missense	probably damaging	1.00
R4180:Tonsl	UTSW	15	76,624,475 (GRCm38)	missense	probably damaging	1.00
R4327:Tonsl	UTSW	15	76,639,716 (GRCm38)	missense	probably benign
R4627:Tonsl	UTSW	15	76,637,224 (GRCm38)	missense	probably damaging	1.00
R4671:Tonsl	UTSW	15	76,623,410 (GRCm38)	missense	probably benign	0.01
R4825:Tonsl	UTSW	15	76,633,248 (GRCm38)	missense	probably benign	0.34
R4840:Tonsl	UTSW	15	76,633,209 (GRCm38)	missense	probably benign
R5030:Tonsl	UTSW	15	76,638,101 (GRCm38)	missense	probably damaging	1.00
R5143:Tonsl	UTSW	15	76,636,657 (GRCm38)	missense	possibly damaging	0.80
R6238:Tonsl	UTSW	15	76,636,218 (GRCm38)	splice site	probably null
R6379:Tonsl	UTSW	15	76,629,742 (GRCm38)	missense	probably benign
R6401:Tonsl	UTSW	15	76,633,666 (GRCm38)	missense	probably damaging	1.00
R6534:Tonsl	UTSW	15	76,629,677 (GRCm38)	missense	probably damaging	1.00
R6695:Tonsl	UTSW	15	76,629,818 (GRCm38)	missense	possibly damaging	0.84
R6701:Tonsl	UTSW	15	76,629,300 (GRCm38)	missense	probably damaging	1.00
R7138:Tonsl	UTSW	15	76,634,776 (GRCm38)	missense	probably benign
R7206:Tonsl	UTSW	15	76,633,651 (GRCm38)	missense	probably damaging	1.00
R7287:Tonsl	UTSW	15	76,633,725 (GRCm38)	splice site	probably null
R7626:Tonsl	UTSW	15	76,633,936 (GRCm38)	missense	probably null	1.00
R7641:Tonsl	UTSW	15	76,633,652 (GRCm38)	missense	probably damaging	1.00
R7920:Tonsl	UTSW	15	76,634,587 (GRCm38)	missense	probably damaging	1.00
R8245:Tonsl	UTSW	15	76,636,822 (GRCm38)	missense	probably benign	0.10
R8311:Tonsl	UTSW	15	76,633,263 (GRCm38)	missense	probably benign
R8679:Tonsl	UTSW	15	76,634,063 (GRCm38)	missense	probably damaging	1.00
R8679:Tonsl	UTSW	15	76,632,876 (GRCm38)	missense	probably benign	0.19
R9093:Tonsl	UTSW	15	76,631,070 (GRCm38)	missense	probably damaging	0.97
R9143:Tonsl	UTSW	15	76,630,624 (GRCm38)	missense	probably damaging	0.96
R9278:Tonsl	UTSW	15	76,636,771 (GRCm38)	intron	probably benign
R9286:Tonsl	UTSW	15	76,631,013 (GRCm38)	missense	probably damaging	1.00
Z1177:Tonsl	UTSW	15	76,636,153 (GRCm38)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- CAAGGTTTTGAATCTTCTCAACCC -3'
(R):5'- AGCATACACTGGGCCAACAG -3'

Sequencing Primer
(F):5'- TGAATCTTCTCAACCCCGGGG -3'
(R):5'- AGCTGCAGGGTATCACTATCC -3'

Posted On

2019-10-24