Mutagenetix > Incidental Mutation

Incidental Mutation 'R4616:Tox2'

351024

Institutional Source

Beutler Lab

Gene Symbol

Tox2

Ensembl Gene

ENSMUSG00000074607

Gene Name

TOX high mobility group box family member 2

Synonyms

LOC269389, RxHMG1

MMRRC Submission

041827-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4616 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163203125-163324170 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 163320647 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 479 (L479P)

Ref Sequence

ENSEMBL: ENSMUSP00000096710 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099110] [ENSMUST00000109428] [ENSMUST00000165937]

AlphaFold

A2A472

Predicted Effect

probably damaging
Transcript: ENSMUST00000099110
AA Change: L479P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000096710
Gene: ENSMUSG00000074607
AA Change: L479P

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	20	35	N/A	INTRINSIC
low complexity region	110	122	N/A	INTRINSIC
low complexity region	232	248	N/A	INTRINSIC
HMG	287	357	1.44e-18	SMART
low complexity region	424	451	N/A	INTRINSIC
low complexity region	457	471	N/A	INTRINSIC
low complexity region	499	524	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000109428
AA Change: L437P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105055
Gene: ENSMUSG00000074607
AA Change: L437P

Domain	Start	End	E-Value	Type
low complexity region	68	80	N/A	INTRINSIC
low complexity region	190	206	N/A	INTRINSIC
HMG	245	315	1.44e-18	SMART
low complexity region	382	409	N/A	INTRINSIC
low complexity region	415	429	N/A	INTRINSIC
low complexity region	457	482	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000148599
AA Change: L90P

SMART Domains

Protein: ENSMUSP00000118219
Gene: ENSMUSG00000074607
AA Change: L90P

Domain	Start	End	E-Value	Type
low complexity region	36	63	N/A	INTRINSIC
low complexity region	69	83	N/A	INTRINSIC
low complexity region	111	136	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000165937
AA Change: L444P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126243
Gene: ENSMUSG00000074607
AA Change: L444P

Domain	Start	End	E-Value	Type
low complexity region	75	87	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
HMG	252	322	1.44e-18	SMART
low complexity region	389	416	N/A	INTRINSIC
low complexity region	422	436	N/A	INTRINSIC
low complexity region	464	489	N/A	INTRINSIC

Meta Mutation Damage Score

0.4258

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010111I01Rik	G	A	13: 63,298,751	E123K	probably damaging	Het
4931417E11Rik	A	G	6: 73,469,269	V99A	probably benign	Het
Acod1	C	T	14: 103,055,345	T435M	probably benign	Het
Adgrf5	T	C	17: 43,452,440	F1078L	probably benign	Het
Adh6a	A	T	3: 138,324,947	N110I	probably damaging	Het
Aldh16a1	T	C	7: 45,148,788		probably benign	Het
Arhgef17	A	G	7: 100,882,485	F1302S	probably damaging	Het
Bcl2a1a	C	T	9: 88,957,453	R135W	probably damaging	Het
Bpifa6	T	C	2: 153,982,988	S28P	possibly damaging	Het
C9	A	G	15: 6,491,463	D51G	probably damaging	Het
Cfb	T	A	17: 34,859,068	H962L	probably benign	Het
Chn2	G	A	6: 54,290,403	M292I	probably damaging	Het
Clec16a	T	A	16: 10,644,883		probably null	Het
Cyp1a1	T	C	9: 57,701,756	S307P	probably benign	Het
Dsg3	T	C	18: 20,531,559	V538A	probably benign	Het
Erbb3	G	A	10: 128,572,770	Q815*	probably null	Het
Fam90a1a	C	A	8: 21,963,846	Q406K	possibly damaging	Het
Frmd3	T	C	4: 74,187,872	V585A	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8214	T	C	1: 183,681,897		noncoding transcript	Het
Gpld1	G	A	13: 24,984,816	G771D	probably damaging	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Gria2	A	T	3: 80,706,897	I612N	probably damaging	Het
Ifit1bl1	T	C	19: 34,594,610	E149G	probably damaging	Het
Ighv1-82	T	C	12: 115,952,660	T77A	probably benign	Het
Ighv2-9	G	T	12: 113,879,219	T76K	probably damaging	Het
Igkv6-13	A	T	6: 70,458,035	M1K	probably null	Het
Igkv8-21	A	T	6: 70,315,157	S34T	probably benign	Het
Itpr1	A	G	6: 108,481,223	N1985D	probably damaging	Het
Lama3	T	C	18: 12,504,397		probably null	Het
Lamc2	T	C	1: 153,166,169	Y73C	probably damaging	Het
Maff	A	G	15: 79,357,698	D105G	probably damaging	Het
Mep1a	C	T	17: 43,486,241	V312M	possibly damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrgbp	A	T	2: 180,585,314		silent	Het
Mtmr4	T	C	11: 87,610,935	L548S	probably damaging	Het
Myo7b	T	C	18: 32,003,487		probably null	Het
Myo9a	T	C	9: 59,821,649	I596T	probably damaging	Het
Olfr38	G	T	6: 42,762,418	R122L	probably benign	Het
Olfr594	C	T	7: 103,220,422	R235*	probably null	Het
Pcsk5	T	G	19: 17,560,750	Q904H	probably benign	Het
Pdzrn3	G	T	6: 101,152,009	H565Q	probably damaging	Het
Phkg2	C	T	7: 127,577,620	R61W	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Pomgnt1	T	A	4: 116,154,890	I337N	probably damaging	Het
Psmd3	T	C	11: 98,682,926	V66A	probably benign	Het
Ptger3	T	C	3: 157,567,294	S93P	probably damaging	Het
Rbm27	T	A	18: 42,301,775	D301E	probably damaging	Het
Rdh16	A	T	10: 127,801,513		probably null	Het
Slc35a5	A	T	16: 45,144,292	F193I	probably benign	Het
Slc4a4	A	G	5: 89,038,561	K167R	probably damaging	Het
Sort1	A	T	3: 108,355,541	T772S	possibly damaging	Het
Sptbn5	T	A	2: 120,048,757		noncoding transcript	Het
Stard5	G	T	7: 83,633,281		probably benign	Het
Tbc1d22a	A	G	15: 86,235,685	T61A	probably damaging	Het
Usp53	A	T	3: 122,959,120	M80K	probably damaging	Het
Vmn1r209	A	T	13: 22,805,965	L185Q	probably damaging	Het
Vmn2r59	A	G	7: 42,012,438	I651T	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Zfhx4	T	C	3: 5,413,067	S3556P	possibly damaging	Het

Other mutations in Tox2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01444:Tox2	APN	2	163225466	utr 5 prime	probably benign
IGL01891:Tox2	APN	2	163322983	missense	possibly damaging	0.48
IGL02190:Tox2	APN	2	163323006	missense	possibly damaging	0.91
IGL02576:Tox2	APN	2	163276180	missense	probably damaging	0.99
R0881:Tox2	UTSW	2	163321445	missense	probably benign	0.18
R1739:Tox2	UTSW	2	163247785	missense	probably damaging	0.99
R1742:Tox2	UTSW	2	163225526	missense	probably benign	0.04
R1900:Tox2	UTSW	2	163276167	missense	probably damaging	1.00
R1937:Tox2	UTSW	2	163225556	missense	probably benign
R2345:Tox2	UTSW	2	163319598	missense	probably damaging	1.00
R2842:Tox2	UTSW	2	163204630	intron	probably benign
R3753:Tox2	UTSW	2	163314323	missense	probably damaging	1.00
R4614:Tox2	UTSW	2	163320647	missense	probably damaging	1.00
R4615:Tox2	UTSW	2	163320647	missense	probably damaging	1.00
R4618:Tox2	UTSW	2	163320647	missense	probably damaging	1.00
R4625:Tox2	UTSW	2	163314416	missense	possibly damaging	0.71
R5410:Tox2	UTSW	2	163320373	missense	probably benign	0.04
R5493:Tox2	UTSW	2	163204729	nonsense	probably null
R6731:Tox2	UTSW	2	163320377	missense	probably damaging	1.00
R6965:Tox2	UTSW	2	163323010	makesense	probably null
R7038:Tox2	UTSW	2	163314344	missense	probably damaging	0.99
R7078:Tox2	UTSW	2	163320581	missense
R7422:Tox2	UTSW	2	163321515	missense
R7577:Tox2	UTSW	2	163315902	nonsense	probably null
R7829:Tox2	UTSW	2	163320376	missense	probably damaging	1.00
R8356:Tox2	UTSW	2	163204630	missense	unknown
R8456:Tox2	UTSW	2	163204630	missense	unknown
R8754:Tox2	UTSW	2	163321440	missense
R9085:Tox2	UTSW	2	163225561	missense	probably benign	0.19
R9153:Tox2	UTSW	2	163203171	missense
R9526:Tox2	UTSW	2	163323010	makesense	probably null
RF011:Tox2	UTSW	2	163225564	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGAGGCCAAGAACACTCAGG -3'
(R):5'- GCTTGAGAGAGCCAATGTCTC -3'

Sequencing Primer
(F):5'- AGCAGCCCATGTACGCC -3'
(R):5'- TTGAGAGAGCCAATGTCTCTCCAG -3'

Posted On

2015-10-08