Mutagenetix > Incidental Mutations

Incidental Mutation 'R4615:Tox2'

345003

Institutional Source

Beutler Lab

Gene Symbol

Tox2

Ensembl Gene

ENSMUSG00000074607

Gene Name

TOX high mobility group box family member 2

Synonyms

LOC269389, RxHMG1

MMRRC Submission

041826-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4615 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

163203125-163324170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163320647 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 479 (L479P)

Ref Sequence

ENSEMBL: ENSMUSP00000096710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099110] [ENSMUST00000109428] [ENSMUST00000165937]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099110
AA Change: L479P

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

SMART Domains

Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: L479P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	20	35	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
low complexity region	232	248	N/A	INTRINSIC
HMG	287	357	1.44e-18	SMART
low complexity region	424	451	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
low complexity region	499	524	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109428
AA Change: L437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: L437P

Domain	Start	End	E-Value	Type
low complexity region	68	80	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
HMG	245	315	1.44e-18	SMART
low complexity region	382	409	N/A	INTRINSIC
low complexity region	415	429	N/A	INTRINSIC
low complexity region	457	482	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148599
AA Change: L90P

SMART Domains

Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: L90P

Domain	Start	End	E-Value	Type
low complexity region	36	63	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	111	136	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165937
AA Change: L444P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: L444P

Domain	Start	End	E-Value	Type
low complexity region	75	87	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
HMG	252	322	1.44e-18	SMART
low complexity region	389	416	N/A	INTRINSIC
low complexity region	422	436	N/A	INTRINSIC
low complexity region	464	489	N/A	INTRINSIC

Meta Mutation Damage Score

0.4258

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,334	I363V	probably benign	Het
Abcc9	C	G	6: 142,689,107	A144P	possibly damaging	Het
Adgrv1	C	T	13: 81,494,569		probably null	Het
Adprhl1	A	G	8: 13,242,250		probably null	Het
Angptl3	A	T	4: 99,031,361	E119D	probably benign	Het
Atp8b1	T	C	18: 64,553,099	N671S	probably null	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Carmil2	A	G	8: 105,695,074	D1019G	possibly damaging	Het
Cdh8	A	T	8: 99,279,622	I111K	probably damaging	Het
Cep120	T	C	18: 53,714,841	R649G	probably damaging	Het
Clptm1l	A	T	13: 73,607,738	K158*	probably null	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cnga1	A	C	5: 72,604,774	L466V	probably damaging	Het
Cpsf1	T	C	15: 76,596,937	T1240A	possibly damaging	Het
Cubn	A	G	2: 13,428,749	S1117P	probably damaging	Het
Cyp2b9	T	A	7: 26,201,125	L396Q	probably damaging	Het
Cyp8b1	A	T	9: 121,916,098	L56*	probably null	Het
Dcbld2	A	G	16: 58,456,094	T458A	probably benign	Het
Dio2	G	T	12: 90,729,821	P131Q	probably damaging	Het
Dlg5	T	C	14: 24,158,168	Y990C	probably damaging	Het
Dsc3	T	C	18: 19,971,488	D594G	possibly damaging	Het
Dsp	A	G	13: 38,191,632	E1131G	probably damaging	Het
Fdx1	A	T	9: 51,948,645	Y21*	probably null	Het
Gal3st4	A	G	5: 138,266,263	V158A	probably damaging	Het
Gm10269	T	A	18: 20,682,763	E67D	probably benign	Het
Gm5773	A	G	3: 93,774,032	H337R	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gng2	C	T	14: 19,891,327	V16I	possibly damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Lama2	C	A	10: 26,981,524	V3110F	probably damaging	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Ncapg	A	T	5: 45,687,399	M579L	probably benign	Het
Olfr1338	T	C	4: 118,754,137	T134A	probably benign	Het
Olfr292	T	C	7: 86,694,728	S91P	probably damaging	Het
Oog3	A	T	4: 144,158,329	Y346N	probably benign	Het
Orm2	A	G	4: 63,363,299	D89G	probably damaging	Het
Pcdhb4	T	A	18: 37,308,500	S288T	probably benign	Het
Pcsk2	G	T	2: 143,795,969	C375F	probably damaging	Het
Pdcd10	T	C	3: 75,521,091	I138M	probably damaging	Het
Pde8a	T	C	7: 81,320,737	W536R	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Plcl1	A	T	1: 55,698,134	N878I	probably benign	Het
Prkdc	A	T	16: 15,663,074	D353V	probably damaging	Het
Psme4	C	T	11: 30,834,287	T954I	probably benign	Het
Ran	A	G	5: 129,022,098	I115V	probably benign	Het
Reln	A	G	5: 21,972,872	L1867P	possibly damaging	Het
S100a1	A	G	3: 90,511,255	V84A	possibly damaging	Het
Sall2	G	A	14: 52,312,750	P994L	probably benign	Het
Shtn1	A	T	19: 59,022,216	I273N	probably benign	Het
Slc17a9	T	C	2: 180,731,906	I40T	probably benign	Het
Slc29a2	T	C	19: 5,029,264	V305A	probably damaging	Het
Ssfa2	A	G	2: 79,662,382	E1091G	probably damaging	Het
Taar2	T	A	10: 23,941,365	F268I	probably benign	Het
Taf3	G	A	2: 9,952,090	T422I	probably damaging	Het
Tgs1	T	C	4: 3,585,156	F99L	probably damaging	Het
Ttn	A	G	2: 76,766,875	I19898T	probably damaging	Het
Ulk1	G	T	5: 110,789,046	T3N	probably damaging	Het
Vars	A	T	17: 35,013,881	K900N	probably damaging	Het
Vmn2r15	A	G	5: 109,293,482	V170A	possibly damaging	Het
Vmn2r53	A	T	7: 12,582,302	L530Q	probably damaging	Het
Zar1l	G	T	5: 150,518,063	Q33K	probably benign	Het
Zdhhc16	T	C	19: 41,943,683	V358A	possibly damaging	Het

Other mutations in Tox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Tox2	APN	2	163225466	utr 5 prime	probably benign
IGL01891:Tox2	APN	2	163322983	missense	possibly damaging	0.48
IGL02190:Tox2	APN	2	163323006	missense	possibly damaging	0.91
IGL02576:Tox2	APN	2	163276180	missense	probably damaging	0.99
R0881:Tox2	UTSW	2	163321445	missense	probably benign	0.18
R1739:Tox2	UTSW	2	163247785	missense	probably damaging	0.99
R1742:Tox2	UTSW	2	163225526	missense	probably benign	0.04
R1900:Tox2	UTSW	2	163276167	missense	probably damaging	1.00
R1937:Tox2	UTSW	2	163225556	missense	probably benign
R2345:Tox2	UTSW	2	163319598	missense	probably damaging	1.00
R2842:Tox2	UTSW	2	163204630	intron	probably benign
R3753:Tox2	UTSW	2	163314323	missense	probably damaging	1.00
R4614:Tox2	UTSW	2	163320647	missense	probably damaging	1.00
R4616:Tox2	UTSW	2	163320647	missense	probably damaging	1.00
R4618:Tox2	UTSW	2	163320647	missense	probably damaging	1.00
R4625:Tox2	UTSW	2	163314416	missense	possibly damaging	0.71
R5410:Tox2	UTSW	2	163320373	missense	probably benign	0.04
R5493:Tox2	UTSW	2	163204729	nonsense	probably null
R6731:Tox2	UTSW	2	163320377	missense	probably damaging	1.00
R6965:Tox2	UTSW	2	163323010	makesense	probably null
R7038:Tox2	UTSW	2	163314344	missense	probably damaging	0.99
R7078:Tox2	UTSW	2	163320581	missense
R7422:Tox2	UTSW	2	163321515	missense
R7577:Tox2	UTSW	2	163315902	nonsense	probably null
R7829:Tox2	UTSW	2	163320376	missense	probably damaging	1.00
R8356:Tox2	UTSW	2	163204630	missense	unknown
R8456:Tox2	UTSW	2	163204630	missense	unknown
RF011:Tox2	UTSW	2	163225564	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGGCCAAGAACACTCAGG -3'
(R):5'- TGAGAGAGCCAATGTCTCTCC -3'

Sequencing Primer
(F):5'- AGCAGCCCATGTACGCC -3'
(R):5'- CTCCAGGCAGGTGTTTTAGACC -3'

Posted On

2015-09-25