Mutagenetix > Incidental Mutation

Incidental Mutation 'R5722:Tox3'

452271

Institutional Source

Beutler Lab

Gene Symbol

Tox3

Ensembl Gene

ENSMUSG00000043668

Gene Name

TOX high mobility group box family member 3

Synonyms

CAGF9, 500-9, Tnrc9

MMRRC Submission

043340-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R5722 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

90973668-91074971 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to C at 91074489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135697 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109621] [ENSMUST00000176034] [ENSMUST00000176616]

AlphaFold

Q80W03

Predicted Effect

probably null
Transcript: ENSMUST00000109621

SMART Domains

Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	60	77	N/A	INTRINSIC
low complexity region	195	214	N/A	INTRINSIC
HMG	253	323	2.93e-19	SMART
low complexity region	345	362	N/A	INTRINSIC
coiled coil region	438	466	N/A	INTRINSIC
low complexity region	548	573	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176034

SMART Domains

Protein: ENSMUSP00000134931
Gene: ENSMUSG00000043668

Domain	Start	End	E-Value	Type
low complexity region	38	55	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000176616

SMART Domains

Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668

Domain	Start	End	E-Value	Type
low complexity region	32	48	N/A	INTRINSIC
low complexity region	59	76	N/A	INTRINSIC
low complexity region	194	213	N/A	INTRINSIC
HMG	252	309	1.29e-6	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.0%

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 an HMG-box, indicating that it may be involved in bending and unwinding of DNA and alteration of chromatin structure. The C-terminus of the encoded protein is glutamine-rich due to CAG repeats in the coding sequence. A minor allele of this gene has been implicated in an elevated risk of breast cancer. Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Apr 2009]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,772,194 (GRCm39)	R164H	probably damaging	Het
Afg3l2	A	G	18: 67,573,269 (GRCm39)	Y178H	probably benign	Het
Agtr1a	A	G	13: 30,566,016 (GRCm39)	*360W	probably null	Het
Arfgef1	A	G	1: 10,209,109 (GRCm39)	V1830A	probably benign	Het
Asic2	A	T	11: 81,858,806 (GRCm39)	S69T	probably benign	Het
Axin1	A	T	17: 26,401,531 (GRCm39)	N368Y	probably damaging	Het
Brme1	A	G	8: 84,898,473 (GRCm39)	E537G	probably damaging	Het
Ces1d	G	A	8: 93,904,756 (GRCm39)	P328L	probably benign	Het
Cndp2	T	A	18: 84,686,203 (GRCm39)	K461*	probably null	Het
Cntnap5c	A	T	17: 58,620,852 (GRCm39)	H977L	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Glg1	T	C	8: 111,896,194 (GRCm39)	T177A	possibly damaging	Het
Gm7168	T	C	17: 14,169,824 (GRCm39)	V397A	probably benign	Het
Hif1a	T	A	12: 73,988,533 (GRCm39)	D535E	probably benign	Het
Hjurp	GT	GTT	1: 88,194,246 (GRCm39)		probably null	Het
Ice1	T	C	13: 70,763,219 (GRCm39)	E173G	possibly damaging	Het
Ighmbp2	A	G	19: 3,329,909 (GRCm39)	V115A	probably damaging	Het
Irf2	A	T	8: 47,271,831 (GRCm39)	E101D	possibly damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Kyat1	C	T	2: 30,078,123 (GRCm39)	C127Y	probably damaging	Het
Mrgpra4	T	C	7: 47,630,755 (GRCm39)	H282R	probably benign	Het
Npsr1	C	A	9: 24,225,096 (GRCm39)	P368Q	probably damaging	Het
Nwd1	G	A	8: 73,401,872 (GRCm39)	V839M	probably damaging	Het
Or51a43	T	A	7: 103,717,930 (GRCm39)	M103L	probably damaging	Het
Or6n2	G	T	1: 173,897,436 (GRCm39)	D191Y	probably damaging	Het
P4ha3	A	G	7: 99,955,198 (GRCm39)	D351G	probably benign	Het
Pard3b	T	A	1: 62,479,160 (GRCm39)		probably null	Het
Pgap6	CGGGG	CGGGGG	17: 26,339,536 (GRCm39)		probably null	Het
Pik3c2b	G	T	1: 133,031,574 (GRCm39)	G1505W	probably damaging	Het
Plppr5	A	T	3: 117,414,714 (GRCm39)	I112L	probably benign	Het
Potefam1	T	A	2: 111,034,468 (GRCm39)	T355S	probably benign	Het
Ptprq	A	G	10: 107,522,226 (GRCm39)	I575T	possibly damaging	Het
Ranbp3l	A	G	15: 9,029,656 (GRCm39)	E46G	probably damaging	Het
Rbm46	A	G	3: 82,772,640 (GRCm39)	V164A	possibly damaging	Het
Sap25	A	G	5: 137,639,713 (GRCm39)	E13G	probably benign	Het
Setbp1	A	T	18: 78,899,860 (GRCm39)	V1269E	possibly damaging	Het
Smgc	T	A	15: 91,726,109 (GRCm39)	S18R	possibly damaging	Het
Snrk	T	C	9: 121,993,072 (GRCm39)	I345T	probably benign	Het
Sp4	T	A	12: 118,262,976 (GRCm39)	I357F	possibly damaging	Het
Sra1	A	G	18: 36,808,031 (GRCm39)	L399P	probably damaging	Het
Stat6	A	G	10: 127,494,242 (GRCm39)	T658A	probably benign	Het
Sv2a	G	A	3: 96,092,339 (GRCm39)	R13H	probably benign	Het
Thoc3	G	T	13: 54,608,014 (GRCm39)	T310N	probably damaging	Het
Trpc6	A	G	9: 8,680,550 (GRCm39)	E848G	possibly damaging	Het
Ttn	T	A	2: 76,538,590 (GRCm39)	T34703S	possibly damaging	Het
Ttn	T	C	2: 76,776,312 (GRCm39)	I1577V	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Ugt2b36	C	T	5: 87,240,297 (GRCm39)	W29*	probably null	Het
Wdr17	C	T	8: 55,113,806 (GRCm39)		probably null	Het
Zfp790	C	A	7: 29,529,514 (GRCm39)	S733*	probably null	Het

Other mutations in Tox3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00948:Tox3	APN	8	90,997,062 (GRCm39)	missense	probably damaging	1.00
IGL02417:Tox3	APN	8	90,984,759 (GRCm39)	missense	possibly damaging	0.52
IGL02447:Tox3	APN	8	90,984,781 (GRCm39)	splice site	probably benign
R1139:Tox3	UTSW	8	90,975,497 (GRCm39)	missense	probably damaging	1.00
R1472:Tox3	UTSW	8	90,980,973 (GRCm39)	missense	probably damaging	1.00
R1892:Tox3	UTSW	8	90,996,869 (GRCm39)	missense	probably benign	0.31
R1906:Tox3	UTSW	8	90,975,057 (GRCm39)	unclassified	probably benign
R2847:Tox3	UTSW	8	90,975,018 (GRCm39)	nonsense	probably null
R2849:Tox3	UTSW	8	90,975,018 (GRCm39)	nonsense	probably null
R3703:Tox3	UTSW	8	90,975,533 (GRCm39)	missense	possibly damaging	0.52
R3705:Tox3	UTSW	8	90,975,533 (GRCm39)	missense	possibly damaging	0.52
R4984:Tox3	UTSW	8	90,975,270 (GRCm39)	unclassified	probably benign
R5249:Tox3	UTSW	8	90,975,444 (GRCm39)	missense	probably benign	0.09
R6291:Tox3	UTSW	8	90,975,566 (GRCm39)	missense	probably damaging	1.00
R6451:Tox3	UTSW	8	90,984,687 (GRCm39)	missense	probably benign	0.31
R7653:Tox3	UTSW	8	90,975,617 (GRCm39)	missense	probably damaging	1.00
R7753:Tox3	UTSW	8	90,975,560 (GRCm39)	missense	probably damaging	1.00
R8220:Tox3	UTSW	8	90,984,708 (GRCm39)	missense	probably damaging	0.97
R8337:Tox3	UTSW	8	91,074,507 (GRCm39)	missense	probably damaging	0.99
R8387:Tox3	UTSW	8	90,984,595 (GRCm39)	missense	probably benign
R8525:Tox3	UTSW	8	91,001,309 (GRCm39)	missense	probably damaging	0.99
R8951:Tox3	UTSW	8	91,074,543 (GRCm39)	missense	probably benign	0.28
R9029:Tox3	UTSW	8	90,996,864 (GRCm39)	missense	possibly damaging	0.95
R9182:Tox3	UTSW	8	90,984,507 (GRCm39)	missense	probably benign	0.03
R9645:Tox3	UTSW	8	90,984,574 (GRCm39)	missense	probably damaging	1.00
R9790:Tox3	UTSW	8	90,975,206 (GRCm39)	missense	unknown
R9791:Tox3	UTSW	8	90,975,206 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GCTTCACACAGCTTTTAGGG -3'
(R):5'- TCCTCGACGGTGGATCGTAC -3'

Sequencing Primer
(F):5'- TCACACAGCTTTTAGGGGGAGC -3'
(R):5'- GGTGGATCGTACGGCCG -3'

Posted On

2017-01-03