Mutagenetix > Incidental Mutation

Incidental Mutation 'R8525:Tox3'

658768

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

067950-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.873) question?

Stock #

R8525 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90973668-91074971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91001309 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 34 (N34T)

Ref Sequence

ENSEMBL: ENSMUSP00000135697 (fasta)

Gene Model

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

AlphaFold

Q80W03

Predicted Effect

probably damaging
Transcript: ENSMUST00000109621
AA Change: N34T

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668
AA Change: N34T

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: ENSMUST00000176034

SMART Domains

Protein: ENSMUSP00000134931
Gene: ENSMUSG00000043668

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176616
AA Change: N34T

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668
AA Change: N34T

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

Validation Efficiency

98% (49/50)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	A	T	7: 27,255,936 (GRCm39)	N8Y	possibly damaging	Het
4932414N04Rik	A	T	2: 68,559,378 (GRCm39)	D197V	possibly damaging	Het
Aar2	G	A	2: 156,397,837 (GRCm39)	R283Q	probably benign	Het
Acsf2	T	A	11: 94,463,446 (GRCm39)	I119F	probably benign	Het
Adamtsl1	C	T	4: 86,195,247 (GRCm39)	P572S	probably damaging	Het
Adh5	A	T	3: 138,157,095 (GRCm39)	I219F	probably damaging	Het
Arhgap23	T	A	11: 97,380,910 (GRCm39)	F1098I	probably damaging	Het
Bicc1	G	T	10: 70,779,365 (GRCm39)	H674Q	possibly damaging	Het
Ccdc39	C	T	3: 33,868,853 (GRCm39)	R786H	probably benign	Het
Ccr1l1	A	G	9: 123,777,589 (GRCm39)	I286T	possibly damaging	Het
Ccr9	T	A	9: 123,608,732 (GRCm39)	M138K	probably benign	Het
Dbh	T	C	2: 27,055,798 (GRCm39)	F91L	probably benign	Het
Dip2a	T	A	10: 76,110,115 (GRCm39)		probably null	Het
Eif3j1	A	G	2: 121,880,991 (GRCm39)	I148V	probably damaging	Het
Etl4	A	G	2: 20,534,892 (GRCm39)	R116G	probably damaging	Het
Exoc6	C	A	19: 37,597,440 (GRCm39)	Q614K	possibly damaging	Het
Gabpb1	A	G	2: 126,494,194 (GRCm39)	S144P	possibly damaging	Het
Galnt13	G	A	2: 54,950,488 (GRCm39)	V390M	possibly damaging	Het
Gimap5	T	C	6: 48,729,501 (GRCm39)	S24P	probably benign	Het
Gm4924	T	A	10: 82,213,701 (GRCm39)		probably benign	Het
Gucy1a2	T	A	9: 3,865,365 (GRCm39)	I613K	probably damaging	Het
Hsp90ab1	T	A	17: 45,880,726 (GRCm39)	E115D	probably benign	Het
Hspg2	T	C	4: 137,266,759 (GRCm39)	V1949A	probably damaging	Het
Ice2	A	G	9: 69,318,698 (GRCm39)	Y294C	probably damaging	Het
Il17ra	T	G	6: 120,451,298 (GRCm39)	Y157*	probably null	Het
Ipo13	T	C	4: 117,762,126 (GRCm39)	E416G	probably damaging	Het
Large1	C	T	8: 73,564,120 (GRCm39)	V549M	probably damaging	Het
Mmp17	A	G	5: 129,679,271 (GRCm39)	D390G	probably damaging	Het
Mrps10	T	G	17: 47,683,371 (GRCm39)	I102R	probably damaging	Het
Mycbp2	A	G	14: 103,450,155 (GRCm39)	L1712P	probably damaging	Het
Nipal2	A	G	15: 34,584,815 (GRCm39)	M251T	probably damaging	Het
Nup160	G	A	2: 90,548,440 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,571 (GRCm39)	V153D	probably benign	Het
Or6f2	T	C	7: 139,756,255 (GRCm39)	I74T	probably damaging	Het
Pdcd11	G	A	19: 47,081,337 (GRCm39)	D34N	possibly damaging	Het
Pigb	G	T	9: 72,924,809 (GRCm39)	P450Q	probably damaging	Het
Radil	A	C	5: 142,474,256 (GRCm39)	L730R	probably damaging	Het
Rsbn1	G	T	3: 103,821,538 (GRCm39)		probably benign	Het
Sec24b	T	C	3: 129,805,467 (GRCm39)	D264G	probably damaging	Het
Shank3	C	G	15: 89,431,973 (GRCm39)	S906C	probably damaging	Het
Slc1a3	A	G	15: 8,672,459 (GRCm39)	V340A	possibly damaging	Het
Slc1a3	A	T	15: 8,680,423 (GRCm39)	I145N	possibly damaging	Het
Slc35f4	A	T	14: 49,541,681 (GRCm39)	S208T	possibly damaging	Het
Spopfm1	A	G	3: 94,173,862 (GRCm39)	N290S	probably benign	Het
Tmem132b	A	G	5: 125,715,380 (GRCm39)	D363G	probably benign	Het
Vmn1r231	T	A	17: 21,110,001 (GRCm39)	I305L	probably benign	Het
Vps18	A	G	2: 119,120,711 (GRCm39)	I57V	possibly damaging	Het
Zfhx4	T	G	3: 5,464,603 (GRCm39)	L1587R	probably damaging	Het
Zfp112	A	G	7: 23,825,322 (GRCm39)	N430S	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
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'- GTTACCTTGTGCCACAGGAG -3'
(R):5'- CTGTCCTGGGGAGAAACAGAAC -3'

Sequencing Primer
(F):5'- TTACCTTGTGCCACAGGAGAGAAAG -3'
(R):5'- GTAACACCATGCTGTAGCTGCAG -3'

Posted On

2021-01-18