Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Tox3'

686941

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

068858-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R9029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90973668-91074971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 90996864 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 133 (L133R)

Ref Sequence

ENSEMBL: ENSMUSP00000105250 (fasta)

Gene Model

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

AlphaFold

Q80W03

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109621
AA Change: L133R

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668
AA Change: L133R

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 damaging
Transcript: ENSMUST00000176034
AA Change: L111R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134931
Gene: ENSMUSG00000043668
AA Change: L111R

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176616
AA Change: L132R

PolyPhen 2 Score 0.687 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668
AA Change: L132R

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gm5460	T	A	14: 33,739,326 (GRCm39)	S103T		Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Hpd	G	A	5: 123,313,973 (GRCm39)	T271M	probably damaging	Het
Ift74	T	C	4: 94,506,271 (GRCm39)	I18T	probably benign	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Nphs2	G	A	1: 156,140,592 (GRCm39)	A110T	probably benign	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or5t7	A	G	2: 86,506,831 (GRCm39)	M282T	probably damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tinag	A	T	9: 76,934,296 (GRCm39)		probably benign	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	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
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
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
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'- CTCTGTGGCTGTCAATCACC -3'
(R):5'- TTGAAATTCCACCGATCACGC -3'

Sequencing Primer
(F):5'- TGTGGCTGTCAATCACCCAATAC -3'
(R):5'- GATCACGCCTCCTCCAGAGTC -3'

Posted On

2021-11-19