Mutagenetix > Incidental Mutation

Incidental Mutation 'R9645:Tox3'

726210

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R9645 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90973668-91074971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90984574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 202 (P202S)

Ref Sequence

ENSEMBL: ENSMUSP00000105250 (fasta)

Gene Model

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

AlphaFold

Q80W03

Predicted Effect

probably damaging
Transcript: ENSMUST00000109621
AA Change: P202S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105250
Gene: ENSMUSG00000043668
AA Change: P202S

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

silent
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: P201S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135697
Gene: ENSMUSG00000043668
AA Change: P201S

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

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	C	5: 138,644,793 (GRCm39)	V226A	probably benign	Het
Acan	G	T	7: 78,749,653 (GRCm39)	V1475F	probably benign	Het
Acin1	T	A	14: 54,901,913 (GRCm39)	R626S	probably benign	Het
Aff3	T	C	1: 38,249,121 (GRCm39)	K662R	probably damaging	Het
Ankrd11	C	T	8: 123,617,682 (GRCm39)	A2057T	probably benign	Het
Ano9	T	G	7: 140,687,388 (GRCm39)	N309T	probably benign	Het
Ap3d1	G	A	10: 80,545,062 (GRCm39)	S1092L	probably benign	Het
B4galt7	C	T	13: 55,756,556 (GRCm39)	H257Y	probably damaging	Het
BC051665	G	T	13: 60,932,545 (GRCm39)	Q47K	possibly damaging	Het
Brip1	A	G	11: 85,952,512 (GRCm39)	F1090L	probably benign	Het
Cabin1	A	G	10: 75,494,543 (GRCm39)	V1612A	probably benign	Het
Ccar1	A	T	10: 62,602,369 (GRCm39)	D434E	probably benign	Het
Ccdc15	T	C	9: 37,227,083 (GRCm39)	D297G	probably benign	Het
Celsr3	C	A	9: 108,704,691 (GRCm39)	Y391*	probably null	Het
Cfap52	A	G	11: 67,837,179 (GRCm39)	I194T	possibly damaging	Het
Ctif	T	C	18: 75,757,352 (GRCm39)	E67G	probably benign	Het
Cxcr6	T	C	9: 123,639,151 (GRCm39)	F58L	possibly damaging	Het
Cyp2c69	T	C	19: 39,869,593 (GRCm39)	E142G	probably damaging	Het
Dnah6	T	A	6: 73,115,750 (GRCm39)	R1549S	possibly damaging	Het
Duxf3	A	T	10: 58,066,803 (GRCm39)	H75Q	probably benign	Het
Ehbp1	A	T	11: 22,051,052 (GRCm39)	I500N	probably damaging	Het
F13a1	A	T	13: 37,082,154 (GRCm39)	S517T	probably benign	Het
Fbln7	C	T	2: 128,719,316 (GRCm39)	R38C	probably damaging	Het
Fn1	T	C	1: 71,667,629 (GRCm39)	N788S	probably benign	Het
Foxc1	A	T	13: 31,991,882 (GRCm39)	E231V	probably damaging	Het
Gal3st2b	T	C	1: 93,866,328 (GRCm39)	S10P	probably damaging	Het
Gm6899	G	A	11: 26,543,592 (GRCm39)	C53Y	unknown	Het
Hps3	T	C	3: 20,084,831 (GRCm39)	E119G	probably benign	Het
Impg2	A	G	16: 56,038,767 (GRCm39)	E135G	probably damaging	Het
Kalrn	G	A	16: 34,032,583 (GRCm39)	T1155M	probably benign	Het
Kcna6	G	A	6: 126,716,022 (GRCm39)	A289V	probably benign	Het
Kcnh5	T	C	12: 75,134,191 (GRCm39)	M453V	probably benign	Het
Krt222	A	G	11: 99,131,320 (GRCm39)	V75A	possibly damaging	Het
Lmtk3	A	T	7: 45,450,431 (GRCm39)	T1432S	unknown	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Ltbp3	C	G	19: 5,802,099 (GRCm39)	N758K	probably damaging	Het
Map6d1	T	A	16: 20,055,377 (GRCm39)	H153L	possibly damaging	Het
Mefv	A	G	16: 3,528,782 (GRCm39)	L583P	probably damaging	Het
Mrps28	T	C	3: 8,867,389 (GRCm39)	T160A	probably damaging	Het
Mtcl2	T	C	2: 156,869,390 (GRCm39)	K1082E	probably damaging	Het
Muc6	T	C	7: 141,217,783 (GRCm39)	T2297A	possibly damaging	Het
Mx1	G	T	16: 97,253,409 (GRCm39)	D338E	probably benign	Het
Myom1	G	A	17: 71,399,204 (GRCm39)	R1120H	probably benign	Het
Nif3l1	T	C	1: 58,487,074 (GRCm39)	F87L	probably benign	Het
Or1e35	T	A	11: 73,797,713 (GRCm39)	M202L	probably benign	Het
Or4p22	T	C	2: 88,317,373 (GRCm39)	V99A	possibly damaging	Het
Pex10	T	A	4: 155,153,264 (GRCm39)	L111Q	probably damaging	Het
Phf1	T	C	17: 27,154,130 (GRCm39)		probably null	Het
Pigp	A	T	16: 94,166,278 (GRCm39)	Y143*	probably null	Het
Pou2af2	A	G	9: 51,229,579 (GRCm39)		probably null	Het
Prrc2a	A	G	17: 35,381,176 (GRCm39)		probably null	Het
Psd	GCC	GC	19: 46,301,841 (GRCm39)		probably null	Het
Pum3	A	G	19: 27,403,412 (GRCm39)	S30P	probably benign	Het
Rab12	A	G	17: 66,826,421 (GRCm39)	S97P	probably damaging	Het
Rigi	T	C	4: 40,220,437 (GRCm39)	E482G	possibly damaging	Het
Ros1	A	G	10: 51,948,148 (GRCm39)		probably null	Het
Scp2	A	T	4: 107,948,519 (GRCm39)	Y197N	probably benign	Het
Serpinb10	T	C	1: 107,474,488 (GRCm39)	F217L	possibly damaging	Het
Shank3	T	G	15: 89,409,453 (GRCm39)	M604R	possibly damaging	Het
Slc22a29	A	G	19: 8,184,488 (GRCm39)	S238P	probably benign	Het
Smarcc1	A	G	9: 109,986,410 (GRCm39)	D237G	probably damaging	Het
Stag3	T	C	5: 138,299,701 (GRCm39)	S871P	possibly damaging	Het
Tmem132d	A	G	5: 128,346,075 (GRCm39)	F149S	probably damaging	Het
Tmem25	C	T	9: 44,706,515 (GRCm39)	E333K		Het
Togaram1	T	A	12: 65,066,082 (GRCm39)	Y1695*	probably null	Het
Trim34b	T	A	7: 103,980,474 (GRCm39)	N187K	probably benign	Het
Vcan	A	G	13: 89,841,081 (GRCm39)	S1488P	probably benign	Het
Vps26a	A	C	10: 62,305,791 (GRCm39)	V124G	probably benign	Het
Vps50	T	G	6: 3,516,706 (GRCm39)	S63A	possibly damaging	Het
Wbp4	T	A	14: 79,707,553 (GRCm39)	E186V	possibly damaging	Het
Zfp52	A	G	17: 21,781,937 (GRCm39)	D595G	possibly damaging	Het
Zfr2	C	A	10: 81,084,252 (GRCm39)	S1*	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
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
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'- CTGAAAAGTGTCTCCCAATCCATG -3'
(R):5'- GTCTTTGTAGGATCAGAGCCAC -3'

Sequencing Primer
(F):5'- GTGTCTCCCAATCCATGAAGAAAGG -3'
(R):5'- AAGTGTCACAGTACCGCCAGG -3'

Posted On

2022-09-12