Mutagenetix > Incidental Mutation

Incidental Mutation 'R5410:Tox2'

426484

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

042979-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5410 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163203125-163324170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163320373 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 388 (M388V)

Ref Sequence

ENSEMBL: ENSMUSP00000096710 (fasta)

Gene Model

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

AlphaFold

A2A472

Predicted Effect

probably benign
Transcript: ENSMUST00000099110
AA Change: M388V

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: M388V

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 benign
Transcript: ENSMUST00000109428
AA Change: M346V

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: M346V

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

probably benign
Transcript: ENSMUST00000148599

SMART Domains

Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607

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 benign
Transcript: ENSMUST00000165937
AA Change: M353V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: M353V

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230019H11Rik	G	A	10: 3,126,473		noncoding transcript	Het
Adam24	A	G	8: 40,681,064	M524V	probably benign	Het
Adamts20	T	A	15: 94,281,957	N1788I	possibly damaging	Het
Arfgef3	T	G	10: 18,611,237	I1350L	probably damaging	Het
Arhgap17	A	G	7: 123,297,493		probably null	Het
Ascl5	A	T	1: 136,051,188	I129F	probably damaging	Het
AU040320	A	T	4: 126,823,716	H362L	possibly damaging	Het
Bpifb9a	A	T	2: 154,270,235	N564Y	probably benign	Het
Cdon	G	T	9: 35,470,035	D574Y	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Ces1e	T	A	8: 93,210,442	I334F	possibly damaging	Het
Clip2	G	A	5: 134,522,791	T159M	possibly damaging	Het
Cntn3	T	A	6: 102,278,353	T195S	probably benign	Het
Csmd2	C	A	4: 128,548,819	H3221Q	probably benign	Het
Cyp2c68	T	C	19: 39,699,284	D423G	possibly damaging	Het
Dennd3	C	T	15: 73,547,448	T696M	probably benign	Het
Ep300	T	C	15: 81,648,854	M1704T	unknown	Het
Exoc2	A	G	13: 30,864,856	F738S	probably damaging	Het
Fis1	A	G	5: 136,965,566	E36G	probably damaging	Het
Galnt1	A	G	18: 24,267,547	I237V	probably benign	Het
Gspt1	A	T	16: 11,230,510	I416N	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hykk	G	A	9: 54,946,066	C224Y	probably damaging	Het
Ifi211	T	C	1: 173,906,263	T111A	probably benign	Het
Il17rd	T	C	14: 27,095,911	Y186H	probably damaging	Het
Klhl29	G	T	12: 5,091,366	N539K	probably benign	Het
Lmbr1l	T	C	15: 98,909,262	T213A	probably damaging	Het
Madd	C	T	2: 91,154,514	R1318Q	probably damaging	Het
Mecom	C	A	3: 29,997,721	A182S	probably benign	Het
Olfr1305	C	T	2: 111,873,292	A188T	probably damaging	Het
Olfr20	C	T	11: 73,353,806	P18S	probably benign	Het
Olfr272	C	A	4: 52,910,991	A268S	probably benign	Het
Olfr67	A	T	7: 103,787,374	V301E	probably damaging	Het
Otud4	T	A	8: 79,672,997	M780K	probably benign	Het
Pdia5	A	G	16: 35,453,536	V130A	probably damaging	Het
Phldb2	T	A	16: 45,825,612	H202L	possibly damaging	Het
Ppig	G	A	2: 69,735,897	G136E	probably null	Het
Prr14l	C	A	5: 32,827,777	R1458L	probably damaging	Het
Ptpn3	T	C	4: 57,205,019	Y714C	probably damaging	Het
Ptprr	T	C	10: 116,188,330	V182A	possibly damaging	Het
Rai14	A	G	15: 10,574,938	Y645H	probably damaging	Het
Rasgrp3	T	C	17: 75,497,047	I115T	probably benign	Het
Rc3h1	G	T	1: 160,964,963	R990L	possibly damaging	Het
Rdh5	T	A	10: 128,918,291	Q21L	probably benign	Het
Rfx8	A	G	1: 39,710,156		probably null	Het
Scap	A	G	9: 110,374,182		probably null	Het
Shank1	T	A	7: 44,351,822	S988R	unknown	Het
Slc16a14	T	A	1: 84,907,424	I465F	probably damaging	Het
Slc41a2	A	G	10: 83,281,368		probably null	Het
Tab2	T	C	10: 7,919,821	H225R	possibly damaging	Het
Tbx19	T	A	1: 165,160,372	N64I	probably damaging	Het
Tmprss11f	A	T	5: 86,530,106	I268K	probably damaging	Het
Trbv17	T	C	6: 41,163,538	L109P	probably damaging	Het
Trim72	A	G	7: 128,009,923	H299R	probably damaging	Het
Vmn1r63	C	T	7: 5,803,190	V148I	possibly damaging	Het
Zfp938	A	C	10: 82,225,258	H509Q	possibly damaging	Het
Zfyve16	A	G	13: 92,521,231	V724A	probably benign	Het
Zscan10	T	C	17: 23,610,421	F569L	probably 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
R4615: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
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
R8754:Tox2	UTSW	2	163321440	missense
R9085:Tox2	UTSW	2	163225561	missense	probably benign	0.19
R9153:Tox2	UTSW	2	163203171	missense
R9526:Tox2	UTSW	2	163323010	makesense	probably null
RF011:Tox2	UTSW	2	163225564	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TTGAGCCATCCAGAGACCTTG -3'
(R):5'- GCTTAGTCCTGCTTACCTGTGG -3'

Sequencing Primer
(F):5'- ATCCAGAGACCTTGCCGGC -3'
(R):5'- ACCTGGAGTGCCATGGAG -3'

Posted On

2016-09-01