Mutagenetix > Incidental Mutation

Incidental Mutation 'R5421:Tox'

426551

Institutional Source

Beutler Lab

Gene Symbol

Tox

Ensembl Gene

ENSMUSG00000041272

Gene Name

thymocyte selection-associated high mobility group box

Synonyms

1700007F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5421 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

6686353-6991557 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 6842409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 40 (M40I)

Ref Sequence

ENSEMBL: ENSMUSP00000037966 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039987]

AlphaFold

Q66JW3

PDB Structure

Solution structure of the HMG_box domain of thymus high mobility group box protein TOX from mouse [SOLUTION NMR]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000039987
AA Change: M40I

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037966
Gene: ENSMUSG00000041272
AA Change: M40I

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
low complexity region	204	220	N/A	INTRINSIC
HMG	260	330	1.11e-19	SMART
low complexity region	416	439	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150082

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a HMG box DNA binding domain. HMG boxes are found in many eukaryotic proteins involved in chromatin assembly, transcription and replication. This protein may function to regulate T-cell development.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a knock-out allele have a severe block in thymic positive selection leading to loss of CD4 T lineage cells, and display decreased NK cell numbers, severely reduced numbers of lymphoid tissue inducer cells, absence of all peripheral lymph nodes, and loss of Peyer's patches. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	A	T	15: 74,421,876 (GRCm39)	Q882L	probably damaging	Het
Afdn	T	C	17: 14,052,668 (GRCm39)	V525A	probably benign	Het
AI987944	T	C	7: 41,024,200 (GRCm39)	T263A	probably benign	Het
Aldh1l2	T	C	10: 83,363,271 (GRCm39)	S31G	probably damaging	Het
Asxl1	T	C	2: 153,241,504 (GRCm39)	S685P	probably benign	Het
Blnk	C	A	19: 40,956,967 (GRCm39)	V47F	probably damaging	Het
Bmp4	T	A	14: 46,623,355 (GRCm39)	M64L	probably damaging	Het
Bmpr2	T	A	1: 59,909,577 (GRCm39)	V1017E	possibly damaging	Het
C1ra	C	T	6: 124,499,749 (GRCm39)	P645L	probably benign	Het
Cadm2	A	T	16: 66,568,513 (GRCm39)	C248*	probably null	Het
Cdk6	T	C	5: 3,523,120 (GRCm39)	V180A	probably damaging	Het
Colec12	A	T	18: 9,858,580 (GRCm39)	R454S	probably damaging	Het
Dennd3	T	C	15: 73,438,964 (GRCm39)	S1111P	probably benign	Het
Dmxl1	T	C	18: 49,996,186 (GRCm39)		probably null	Het
Dnah2	G	A	11: 69,326,462 (GRCm39)	T3613I	probably damaging	Het
Elp6	A	G	9: 110,143,132 (GRCm39)	Q115R	probably benign	Het
Enpp1	A	G	10: 24,545,655 (GRCm39)	Y262H	probably damaging	Het
Far2	A	G	6: 148,047,690 (GRCm39)		probably null	Het
Flnb	C	T	14: 7,926,494 (GRCm38)	T1846I	probably damaging	Het
Folr2	C	T	7: 101,489,851 (GRCm39)	R139H	probably benign	Het
Fxn	A	T	19: 24,254,649 (GRCm39)		probably null	Het
Galnt13	A	C	2: 54,747,908 (GRCm39)	N263T	probably damaging	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Htr5a	G	T	5: 28,055,985 (GRCm39)	W325C	possibly damaging	Het
Itga4	T	A	2: 79,146,385 (GRCm39)	Y772*	probably null	Het
Kif12	T	C	4: 63,089,665 (GRCm39)	S59G	probably benign	Het
Kifc3	C	T	8: 95,836,473 (GRCm39)	R96Q	probably damaging	Het
Klrd1	T	C	6: 129,575,406 (GRCm39)	Y191H	probably damaging	Het
Ndst3	A	T	3: 123,428,008 (GRCm39)		probably null	Het
Nek1	A	C	8: 61,459,711 (GRCm39)	R6S	possibly damaging	Het
Or4b13	G	A	2: 90,083,089 (GRCm39)	T81I	probably benign	Het
Or5p68	G	C	7: 107,946,182 (GRCm39)	A2G	probably benign	Het
Or6k8-ps1	C	T	1: 173,979,861 (GRCm39)	R260*	probably null	Het
Palld	C	T	8: 61,969,584 (GRCm39)	E1005K	probably damaging	Het
Ppp2r1a	T	A	17: 21,176,968 (GRCm39)	Y169N	probably benign	Het
Rad50	T	C	11: 53,565,773 (GRCm39)	D960G	probably benign	Het
Rad51ap2	A	T	12: 11,509,368 (GRCm39)	K915*	probably null	Het
Rasal2	T	C	1: 157,126,711 (GRCm39)	K109R	probably benign	Het
Rc3h1	G	A	1: 160,779,400 (GRCm39)		probably null	Het
Rnf6	C	T	5: 146,147,339 (GRCm39)	V560I	probably benign	Het
Samd8	A	G	14: 21,842,563 (GRCm39)	D295G	probably damaging	Het
Scart1	T	C	7: 139,803,813 (GRCm39)	L337P	probably damaging	Het
Serpinb2	T	C	1: 107,451,581 (GRCm39)	Y245H	probably damaging	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc28a3	A	T	13: 58,722,079 (GRCm39)	F268L	possibly damaging	Het
Slc7a14	T	C	3: 31,278,346 (GRCm39)	T420A	probably damaging	Het
Speer4f2	A	T	5: 17,579,356 (GRCm39)	T52S	possibly damaging	Het
Spta1	A	G	1: 174,043,095 (GRCm39)	N1414D	probably damaging	Het
Sptbn5	A	G	2: 119,911,261 (GRCm39)		noncoding transcript	Het
Syt9	T	C	7: 107,024,563 (GRCm39)	V152A	probably benign	Het
Thoc2l	A	T	5: 104,666,261 (GRCm39)	N261I	probably benign	Het
Tln1	G	A	4: 43,533,609 (GRCm39)	A2315V	possibly damaging	Het
Ucp1	G	A	8: 84,017,320 (GRCm39)	A37T	probably benign	Het
Vapa	A	G	17: 65,902,031 (GRCm39)	V33A	possibly damaging	Het
Vmn2r110	A	G	17: 20,803,882 (GRCm39)	L231S	probably damaging	Het
Vmn2r15	C	T	5: 109,434,401 (GRCm39)	A768T	probably damaging	Het
Vmn2r86	T	C	10: 130,282,805 (GRCm39)	T604A	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Wnk1	A	G	6: 119,929,779 (GRCm39)	V1246A	probably damaging	Het
Wwc1	C	T	11: 35,801,123 (GRCm39)	E105K	possibly damaging	Het
Wwc1	T	G	11: 35,766,890 (GRCm39)	D455A	possibly damaging	Het
Zfp426	G	A	9: 20,382,015 (GRCm39)	A309V	probably damaging	Het
Zfp626	T	A	7: 27,517,335 (GRCm39)	N105K	probably damaging	Het

Other mutations in Tox

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01359:Tox	APN	4	6,697,583 (GRCm39)	missense	probably damaging	0.99
IGL01481:Tox	APN	4	6,842,396 (GRCm39)	missense	probably damaging	0.99
IGL01600:Tox	APN	4	6,697,585 (GRCm39)	missense	probably damaging	0.98
IGL01616:Tox	APN	4	6,688,430 (GRCm39)	missense	probably damaging	0.99
IGL02160:Tox	APN	4	6,711,537 (GRCm39)	missense	probably damaging	0.99
IGL02390:Tox	APN	4	6,697,534 (GRCm39)	missense	possibly damaging	0.90
IGL03243:Tox	APN	4	6,697,597 (GRCm39)	missense	possibly damaging	0.76
R0008:Tox	UTSW	4	6,842,411 (GRCm39)	missense	probably benign	0.41
R0008:Tox	UTSW	4	6,842,411 (GRCm39)	missense	probably benign	0.41
R1147:Tox	UTSW	4	6,823,055 (GRCm39)	missense	possibly damaging	0.74
R1147:Tox	UTSW	4	6,823,055 (GRCm39)	missense	possibly damaging	0.74
R1159:Tox	UTSW	4	6,697,600 (GRCm39)	missense	probably benign	0.37
R1903:Tox	UTSW	4	6,688,948 (GRCm39)	missense	probably damaging	0.99
R1961:Tox	UTSW	4	6,688,886 (GRCm39)	missense	probably damaging	0.96
R2484:Tox	UTSW	4	6,688,886 (GRCm39)	missense	probably damaging	0.96
R3692:Tox	UTSW	4	6,697,535 (GRCm39)	missense	probably benign	0.05
R4072:Tox	UTSW	4	6,842,396 (GRCm39)	missense	probably damaging	0.99
R4635:Tox	UTSW	4	6,990,501 (GRCm39)	utr 5 prime	probably benign
R4815:Tox	UTSW	4	6,823,033 (GRCm39)	missense	probably benign
R5099:Tox	UTSW	4	6,688,958 (GRCm39)	missense	probably benign	0.28
R5537:Tox	UTSW	4	6,697,510 (GRCm39)	missense	probably damaging	1.00
R5630:Tox	UTSW	4	6,688,835 (GRCm39)	small insertion	probably benign
R5883:Tox	UTSW	4	6,697,444 (GRCm39)	missense	probably benign
R6351:Tox	UTSW	4	6,741,536 (GRCm39)	missense	probably benign	0.11
R6351:Tox	UTSW	4	6,697,439 (GRCm39)	missense	probably benign
R6448:Tox	UTSW	4	6,822,975 (GRCm39)	missense	probably benign	0.08
R6934:Tox	UTSW	4	6,697,635 (GRCm39)	missense	probably damaging	0.98
R7513:Tox	UTSW	4	6,741,507 (GRCm39)	missense	probably benign
R7915:Tox	UTSW	4	6,822,949 (GRCm39)	missense	probably benign
R8223:Tox	UTSW	4	6,842,408 (GRCm39)	missense	probably damaging	1.00
R8766:Tox	UTSW	4	6,823,047 (GRCm39)	missense	probably damaging	0.99
R9702:Tox	UTSW	4	6,697,418 (GRCm39)	missense	probably benign	0.02
Z1088:Tox	UTSW	4	6,688,450 (GRCm39)	missense	probably damaging	1.00
Z1176:Tox	UTSW	4	6,990,629 (GRCm39)	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- CATCTCATTAACTGGAAACAAGGC -3'
(R):5'- GGAAAGATGTGGCTCACTCAC -3'

Sequencing Primer
(F):5'- TAACTGGAAACAAGGCTTAAATGC -3'
(R):5'- TGTGGCTCACTCACTACAACAGATTC -3'

Posted On

2016-09-01