Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02576:Tox2'

299186

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tox2

Ensembl Gene

ENSMUSG00000074607

Gene Name

TOX high mobility group box family member 2

Synonyms

LOC269389, RxHMG1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02576

Quality Score

Status

Chromosome

Chromosomal Location

163203125-163324170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 163276180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 168 (Q168R)

Ref Sequence

ENSEMBL: ENSMUSP00000096710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099110] [ENSMUST00000109428] [ENSMUST00000128999] [ENSMUST00000165937]

AlphaFold

A2A472

Predicted Effect

probably damaging
Transcript: ENSMUST00000099110
AA Change: Q168R

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: Q168R

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: Q126R

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: Q126R

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: ENSMUST00000128999

SMART Domains

Protein: ENSMUSP00000122344
Gene: ENSMUSG00000074607

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	46	57	N/A	INTRINSIC
low complexity region	94	106	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165937
AA Change: Q133R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: Q133R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,433,455	I232M	probably benign	Het
Ace	G	A	11: 105,974,111	V537M	probably damaging	Het
Alg1	A	G	16: 5,244,529	E425G	possibly damaging	Het
Cacng3	G	A	7: 122,671,910	S46N	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Cfap65	A	G	1: 74,903,458	S1646P	probably damaging	Het
Col20a1	C	T	2: 181,013,405	Q1152*	probably null	Het
D130043K22Rik	A	C	13: 24,856,870	T92P	possibly damaging	Het
Drc3	T	C	11: 60,370,551	M176T	probably benign	Het
Esyt3	T	C	9: 99,315,225	R851G	probably benign	Het
Fbxo43	A	G	15: 36,152,175	V496A	probably benign	Het
Fut4	T	A	9: 14,751,405	M198L	probably damaging	Het
Galt	C	T	4: 41,755,953		probably benign	Het
Glipr1l1	A	G	10: 112,060,319	K4E	possibly damaging	Het
Gm9945	A	G	11: 53,480,351		probably benign	Het
Hspa12a	A	C	19: 58,799,410	I660R	possibly damaging	Het
Htr3b	T	C	9: 48,945,504	I225V	possibly damaging	Het
Igf2r	T	C	17: 12,748,763	D23G	possibly damaging	Het
Igsf5	A	G	16: 96,386,581	I158V	probably benign	Het
Itgae	A	G	11: 73,118,505	Y505C	possibly damaging	Het
Kif16b	A	G	2: 142,862,545		probably benign	Het
Kif26b	T	C	1: 178,916,347	V1336A	probably benign	Het
Kmt2d	A	G	15: 98,864,120	S450P	unknown	Het
Lexm	T	C	4: 106,591,628	D411G	possibly damaging	Het
Lhfpl2	G	A	13: 94,174,226	M1I	probably null	Het
Lig4	A	G	8: 9,971,116	I888T	probably damaging	Het
Msh4	G	A	3: 153,867,746	T563M	probably damaging	Het
Muc5ac	C	T	7: 141,817,044	A3238V	probably benign	Het
Myo15b	A	G	11: 115,890,053	S1246G	probably null	Het
Olfr193	T	C	16: 59,109,771	I280V	probably benign	Het
Pecam1	G	A	11: 106,671,774	T599M	probably damaging	Het
Phf3	G	A	1: 30,830,036	P644S	probably benign	Het
Pkd1l1	A	C	11: 8,844,560	F2317C	possibly damaging	Het
Prdm4	A	G	10: 85,900,937	M613T	possibly damaging	Het
Prim2	A	T	1: 33,484,717	I371N	probably damaging	Het
Ptprs	T	C	17: 56,414,958	D1316G	probably damaging	Het
Rnf19b	C	T	4: 129,073,522	R285*	probably null	Het
Secisbp2	A	G	13: 51,670,858	N381D	possibly damaging	Het
Slc28a2	T	C	2: 122,458,171	I586T	probably damaging	Het
Spef1	T	C	2: 131,174,642	H11R	possibly damaging	Het
Taar4	T	C	10: 23,961,011	L173S	probably damaging	Het
Tas2r123	T	C	6: 132,847,740	F200S	possibly damaging	Het
Tex16	T	A	X: 112,118,956	L384Q	probably benign	Het
Trim5	T	A	7: 104,278,417	E172V	probably damaging	Het
Txndc11	G	A	16: 11,075,017		probably benign	Het
Vmn1r232	T	A	17: 20,913,913	I142F	probably benign	Het
Zdhhc25	A	T	15: 88,601,269	H269L	probably benign	Het
Znrf4	T	C	17: 56,512,199	D36G	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
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
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
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

Posted On

2015-04-16