Mutagenetix > Incidental Mutation

Incidental Mutation 'R3703:Tox3'

258611

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

040696-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R3703 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90973668-91074971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90975533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 366 (T366K)

Ref Sequence

ENSEMBL: ENSMUSP00000105250 (fasta)

Gene Model

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

AlphaFold

Q80W03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109621
AA Change: T366K

PolyPhen 2 Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668
AA Change: T366K

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 benign
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

Meta Mutation Damage Score

0.0964

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.9%
20x: 93.7%

Validation Efficiency

100% (50/50)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap10	C	T	8: 77,985,685 (GRCm39)		probably null	Het
Asap3	TGAGGAGGAGGAGGAGGA	TGAGGAGGAGGAGGAGGAGGA	4: 135,968,552 (GRCm39)		probably benign	Het
Bcap29	T	C	12: 31,667,151 (GRCm39)	H170R	probably benign	Het
Bltp1	T	A	3: 37,041,730 (GRCm39)	C2703S	probably damaging	Het
Brf1	T	C	12: 112,932,991 (GRCm39)		probably null	Het
Btnl7-ps	T	A	17: 34,752,941 (GRCm39)		noncoding transcript	Het
Cdh12	C	A	15: 21,583,912 (GRCm39)	T584K	probably damaging	Het
Col13a1	A	G	10: 61,703,608 (GRCm39)		probably null	Het
Col25a1	A	G	3: 130,343,682 (GRCm39)		probably null	Het
Csrp2	G	A	10: 110,773,735 (GRCm39)		probably benign	Het
Ctla2a	T	A	13: 61,083,821 (GRCm39)	D37V	probably damaging	Het
Cubn	T	A	2: 13,355,754 (GRCm39)	H1826L	probably damaging	Het
Dnajc19	A	G	3: 34,134,378 (GRCm39)		probably null	Het
Dxo	T	C	17: 35,057,745 (GRCm39)		probably benign	Het
Edil3	A	T	13: 89,325,417 (GRCm39)	M269L	probably benign	Het
Fbxl7	C	A	15: 26,543,841 (GRCm39)	G269C	probably damaging	Het
Gpnmb	T	A	6: 49,028,799 (GRCm39)	I439N	possibly damaging	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Gtpbp3	T	G	8: 71,944,779 (GRCm39)	S345A	probably benign	Het
Hnrnpul2	A	G	19: 8,801,773 (GRCm39)	E327G	probably damaging	Het
Ifi207	A	T	1: 173,555,029 (GRCm39)	Y884*	probably null	Het
Ifi47	T	C	11: 48,986,352 (GRCm39)	S40P	probably benign	Het
Kcnq3	A	G	15: 65,893,588 (GRCm39)		probably null	Het
Kifc3	G	A	8: 95,830,656 (GRCm39)		probably benign	Het
Muc4	G	C	16: 32,753,919 (GRCm38)	R1265P	probably benign	Het
Mug1	C	T	6: 121,865,515 (GRCm39)		probably benign	Het
Myh2	A	G	11: 67,080,427 (GRCm39)	I1214V	probably benign	Het
Naa30	A	G	14: 49,425,059 (GRCm39)	N337S	probably benign	Het
Nap1l3	A	T	X: 121,305,221 (GRCm39)	I499N	possibly damaging	Het
Nfat5	T	A	8: 108,078,053 (GRCm39)		probably benign	Het
Nisch	A	G	14: 30,898,702 (GRCm39)		probably benign	Het
Nt5c3	A	G	6: 56,860,652 (GRCm39)		probably benign	Het
Pklr	C	T	3: 89,050,008 (GRCm39)	R328C	probably damaging	Het
Prrc2c	G	A	1: 162,538,260 (GRCm39)	R457C	probably damaging	Het
Rab1a	T	G	11: 20,174,506 (GRCm39)		probably benign	Het
Rasa3	A	T	8: 13,638,972 (GRCm39)	D278E	probably benign	Het
Rdh8	C	T	9: 20,734,629 (GRCm39)	P99S	probably damaging	Het
Snx9	T	A	17: 5,978,475 (GRCm39)		probably null	Het
Spns3	C	T	11: 72,390,356 (GRCm39)		probably benign	Het
Sympk	A	G	7: 18,774,486 (GRCm39)	Y421C	probably damaging	Het
Tas1r2	G	A	4: 139,394,729 (GRCm39)	C495Y	probably damaging	Het
Tmem63a	G	A	1: 180,790,679 (GRCm39)	D446N	possibly damaging	Het
Tmprss15	T	C	16: 78,851,030 (GRCm39)		probably null	Het
Trdmt1	T	A	2: 13,526,108 (GRCm39)	Q170L	probably benign	Het
Ttn	A	T	2: 76,565,752 (GRCm39)	V28200D	probably damaging	Het
Zfp616	G	A	11: 73,974,145 (GRCm39)	W138*	probably null	Het
Zfr2	T	G	10: 81,081,913 (GRCm39)	V493G	probably benign	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
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
R5722:Tox3	UTSW	8	91,074,489 (GRCm39)	critical splice donor site	probably null
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'- TGCTGCTGTAACTGCTGCTG -3'
(R):5'- GACAGTCCTATGGCAAAGGC -3'

Sequencing Primer
(F):5'- CTGCTGGGTTTGCACCGAAG -3'
(R):5'- CCTTGGAGATGGGGAAGCATG -3'

Posted On

2015-01-23