Mutagenetix > Incidental Mutations

Incidental Mutation 'R7829:Tox2'

602308

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

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7829 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

163203125-163324170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163320376 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 389 (Y389H)

Ref Sequence

ENSEMBL: ENSMUSP00000096710 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000099110
AA Change: Y389H

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

SMART Domains

Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: Y389H

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: Y347H

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

SMART Domains

Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: Y347H

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 damaging
Transcript: ENSMUST00000165937
AA Change: Y354H

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

SMART Domains

Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: Y354H

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	C	G	11: 58,879,997	L102V	not run	Het
Abca12	A	T	1: 71,292,421	S1323R	probably benign	Het
Abcb1a	T	A	5: 8,698,623	I318N	probably benign	Het
Adam10	A	T	9: 70,766,927	K524*	probably null	Het
Adamts3	C	T	5: 89,861,490	G105R	probably damaging	Het
Adcy7	T	C	8: 88,315,759	I418T	probably damaging	Het
Alg9	T	A	9: 50,788,171	F165L	probably damaging	Het
Anapc2	G	T	2: 25,277,741	R440L	probably damaging	Het
Arhgef17	A	T	7: 100,876,845	H1876Q	probably benign	Het
Armc2	G	A	10: 41,926,860	R606C	probably benign	Het
Cd163	T	C	6: 124,304,779	S14P	probably benign	Het
Cfap74	T	C	4: 155,429,237	V502A		Het
Copb2	T	C	9: 98,588,094	I891T	probably damaging	Het
Creb3	T	C	4: 43,566,322	L276P	probably damaging	Het
Crnkl1	T	A	2: 145,931,349	M126L	probably benign	Het
Csrp2	C	T	10: 110,935,184	A50V	probably damaging	Het
Ctsd	A	G	7: 142,377,142	C284R	probably damaging	Het
Dll3	G	A	7: 28,294,650	A454V	probably damaging	Het
Dmbx1	C	T	4: 115,923,907		probably benign	Het
Dnah6	C	A	6: 73,127,919	E1896*	probably null	Het
Dtwd1	A	G	2: 126,164,759	T234A	probably damaging	Het
Fhod3	G	A	18: 25,115,890		probably null	Het
Gm10549	C	A	18: 33,464,410		probably benign	Het
Gm7298	T	C	6: 121,765,338	I495T	probably damaging	Het
Grhl3	T	C	4: 135,561,221	N51S	probably damaging	Het
Gtpbp4	A	T	13: 8,985,330		probably null	Het
Hsd17b14	A	C	7: 45,566,785	S260R	probably benign	Het
Insig2	A	T	1: 121,307,329		probably null	Het
Itgae	T	A	11: 73,138,792	V1046D	probably benign	Het
Kif1b	A	T	4: 149,220,990		probably null	Het
Kmo	A	G	1: 175,650,659		probably null	Het
Loxhd1	A	G	18: 77,408,787	N29S	probably damaging	Het
Lrp1b	A	T	2: 40,903,448	C2484*	probably null	Het
Lrrc23	T	A	6: 124,770,748	M293L	probably benign	Het
Mphosph6	T	C	8: 117,799,068	D47G	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Naglu	G	A	11: 101,076,610	R462H	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nlrc5	T	C	8: 94,521,769	S1711P	probably damaging	Het
Olfr129	T	C	17: 38,055,329	Y79C	possibly damaging	Het
Olfr420	A	T	1: 174,158,859	I29F	probably benign	Het
Olfr97	T	C	17: 37,232,310	E20G	probably benign	Het
Osbpl6	G	A	2: 76,593,387	A857T	probably damaging	Het
Oscp1	C	A	4: 126,088,408	D380E	probably benign	Het
Pdzd7	C	A	19: 45,039,239	R265S	probably benign	Het
Piezo2	A	T	18: 63,113,876		probably null	Het
Pigc	G	A	1: 161,970,464	R5H	probably benign	Het
Pla2g5	C	A	4: 138,804,534	R53L	probably benign	Het
Rbm6	T	C	9: 107,852,706	R248G	probably damaging	Het
Rev1	A	T	1: 38,056,445	L877Q	probably damaging	Het
Rpap3	A	T	15: 97,681,708	N474K	probably benign	Het
Ryr2	T	A	13: 11,827,607	E468V	possibly damaging	Het
Samd9l	A	C	6: 3,374,749	D837E	probably benign	Het
Sipa1l2	T	C	8: 125,451,988	N1124S	probably damaging	Het
Slc11a2	G	A	15: 100,409,261	A83V	possibly damaging	Het
Slfn14	A	G	11: 83,281,817		probably null	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638		probably benign	Het
Suclg1	A	G	6: 73,275,243		probably null	Het
Syne1	A	C	10: 5,342,293	V1325G	probably damaging	Het
Tmprss15	T	C	16: 78,987,650	S706G	probably benign	Het
Trappc10	T	C	10: 78,199,075	T946A	probably benign	Het
Ubqln1	C	T	13: 58,177,905	E546K	probably damaging	Het
Zfp106	A	G	2: 120,524,057	V1411A	possibly damaging	Het
Zkscan5	A	T	5: 145,218,703	K395*	probably null	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
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
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'- TGACGTTGAGCCATCCAGAG -3'
(R):5'- TAGTCCTGCTTACCTGTGGC -3'

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

Posted On

2019-12-03