Mutagenetix > Incidental Mutation

Incidental Mutation 'R3946:Tmx3'

307736

Institutional Source

Beutler Lab

Gene Symbol

Tmx3

Ensembl Gene

ENSMUSG00000024614

Gene Name

thioredoxin-related transmembrane protein 3

Synonyms

6430411B10Rik, A730024F05Rik, Txndc10

MMRRC Submission

040827-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.264) question?

Stock #

R3946 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90510154-90543267 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90524335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 186 (A186T)

Ref Sequence

ENSEMBL: ENSMUSP00000025515 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025515]

AlphaFold

Q8BXZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025515
AA Change: A186T

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: A186T

Domain	Start	End	E-Value	Type
Pfam:Thioredoxin	30	132	3.6e-26	PFAM
Pfam:Thioredoxin_6	160	341	1.6e-27	PFAM
transmembrane domain	377	399	N/A	INTRINSIC
low complexity region	418	436	N/A	INTRINSIC

Meta Mutation Damage Score

0.1508

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.1%

Validation Efficiency

98% (60/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the disulfide isomerase (PDI) family of endoplasmic reticulum (ER) proteins that catalyze protein folding and thiol-disulfide interchange reactions. The encoded protein has an N-terminal ER-signal sequence, a catalytically active thioredoxin domain, one transmembrane domain and a C-terminal ER-retention sequence. This gene is expressed in many tissues but has its highest expression in heart and skeletal muscle. It is expressed in the retinal neuroepithelium and lens epithelium in the developing murine eye and haploinsufficiency of this gene in humans and zebrafish is associated with microphthalmia. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,309,098 (GRCm38)	I104V	probably damaging	Het
Abi2	A	G	1: 60,453,754 (GRCm38)	Q328R	probably damaging	Het
Agr3	C	A	12: 35,947,513 (GRCm38)		probably benign	Het
Brca2	T	A	5: 150,536,704 (GRCm38)	S481R	probably damaging	Het
Cabin1	T	G	10: 75,745,259 (GRCm38)	Q411P	probably damaging	Het
Calr3	A	G	8: 72,443,620 (GRCm38)	Y22H	probably damaging	Het
Caprin1	T	A	2: 103,796,766 (GRCm38)	I59F	probably damaging	Het
Cdk5rap1	T	C	2: 154,348,716 (GRCm38)	T442A	probably damaging	Het
Chn2	T	C	6: 54,269,426 (GRCm38)		probably benign	Het
Cic	C	A	7: 25,272,346 (GRCm38)	R501S	possibly damaging	Het
Coch	A	G	12: 51,601,812 (GRCm38)		probably null	Het
Defa25	G	A	8: 21,084,490 (GRCm38)	V17I	probably null	Het
Dglucy	T	C	12: 100,838,700 (GRCm38)		probably null	Het
Dtx1	T	G	5: 120,681,286 (GRCm38)	T616P	possibly damaging	Het
Eef1g	T	C	19: 8,969,977 (GRCm38)	L171P	probably benign	Het
Fam135a	A	G	1: 24,030,394 (GRCm38)	S465P	probably damaging	Het
Gm14025	A	G	2: 129,039,601 (GRCm38)	L135P	probably damaging	Het
Gm14412	A	T	2: 177,314,685 (GRCm38)	C472*	probably null	Het
Gm7104	T	C	12: 88,286,042 (GRCm38)		noncoding transcript	Het
Got2	A	G	8: 95,888,230 (GRCm38)	S26P	probably benign	Het
H2-M11	A	G	17: 36,549,231 (GRCm38)	I329M	probably damaging	Het
Hmcn2	T	A	2: 31,382,394 (GRCm38)	D1295E	possibly damaging	Het
Hoxd12	G	T	2: 74,675,427 (GRCm38)	R114L	probably damaging	Het
Ilkap	A	C	1: 91,387,250 (GRCm38)	D124E	probably damaging	Het
Med6	T	C	12: 81,581,851 (GRCm38)	Y88C	probably damaging	Het
Mep1a	A	T	17: 43,475,041 (GRCm38)	L719*	probably null	Het
Mmp23	T	C	4: 155,652,023 (GRCm38)	Y187C	probably damaging	Het
Myo1g	A	G	11: 6,520,760 (GRCm38)	M32T	possibly damaging	Het
Ncstn	T	C	1: 172,067,494 (GRCm38)	E614G	probably benign	Het
Nr2c2	C	T	6: 92,163,138 (GRCm38)	R464W	probably damaging	Het
Olfr1309	G	A	2: 111,983,297 (GRCm38)	T259M	possibly damaging	Het
Otub2	T	A	12: 103,392,826 (GRCm38)	L58*	probably null	Het
Pcdhga12	G	A	18: 37,767,629 (GRCm38)	V505I	probably benign	Het
Pcdhga9	T	A	18: 37,737,844 (GRCm38)	V242D	probably damaging	Het
Pex1	C	T	5: 3,626,084 (GRCm38)	L891F	probably damaging	Het
Pgm1	C	T	5: 64,112,061 (GRCm38)	T497I	probably benign	Het
Pikfyve	T	C	1: 65,196,681 (GRCm38)	F171L	probably damaging	Het
Pilrb1	T	G	5: 137,857,392 (GRCm38)	K79T	probably benign	Het
Pin1	C	T	9: 20,655,364 (GRCm38)	R21W	probably damaging	Het
Ptprq	A	G	10: 107,686,392 (GRCm38)		probably benign	Het
Rad17	G	A	13: 100,622,863 (GRCm38)	A552V	possibly damaging	Het
Rbbp8	A	G	18: 11,718,868 (GRCm38)	T249A	probably benign	Het
Rtkn	A	T	6: 83,135,976 (GRCm38)	I10F	probably benign	Het
Scube2	T	A	7: 109,857,590 (GRCm38)	I103F	possibly damaging	Het
Sec23b	A	G	2: 144,581,973 (GRCm38)	H514R	probably benign	Het
Serbp1	T	A	6: 67,272,220 (GRCm38)	D223E	probably benign	Het
Slc14a1	C	A	18: 78,111,392 (GRCm38)	V260L	probably benign	Het
Slc22a23	A	G	13: 34,183,126 (GRCm38)	I633T	probably damaging	Het
Stk19	A	T	17: 34,824,747 (GRCm38)		probably benign	Het
Svs2	T	C	2: 164,237,127 (GRCm38)	M287V	probably benign	Het
Syne3	T	A	12: 104,958,066 (GRCm38)	Q358L	probably damaging	Het
Synj1	A	G	16: 91,010,096 (GRCm38)	F58L	possibly damaging	Het
Tg	T	C	15: 66,674,023 (GRCm38)	V198A	probably damaging	Het
Tle4	A	T	19: 14,597,388 (GRCm38)	Y9N	probably damaging	Het
Tmem57	A	G	4: 134,804,481 (GRCm38)	Y626H	probably damaging	Het
Traf3	G	A	12: 111,255,245 (GRCm38)	S280N	possibly damaging	Het
Trmt13	A	G	3: 116,581,518 (GRCm38)	F447S	probably damaging	Het
Trp53bp1	T	A	2: 121,228,626 (GRCm38)	H918L	probably damaging	Het
Ush2a	T	G	1: 188,728,504 (GRCm38)	V2654G	probably benign	Het
Vmn2r25	A	G	6: 123,840,098 (GRCm38)	Y175H	probably damaging	Het
Zfp335	T	C	2: 164,892,189 (GRCm38)	D1330G	probably damaging	Het

Other mutations in Tmx3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00946:Tmx3	APN	18	90,540,054 (GRCm38)	missense	possibly damaging	0.53
IGL01790:Tmx3	APN	18	90,511,334 (GRCm38)	critical splice donor site	probably null
IGL01888:Tmx3	APN	18	90,527,921 (GRCm38)	missense	probably benign	0.05
IGL02689:Tmx3	APN	18	90,537,116 (GRCm38)	missense	possibly damaging	0.70
IGL03212:Tmx3	APN	18	90,538,518 (GRCm38)	missense	probably damaging	0.98
R0243:Tmx3	UTSW	18	90,538,489 (GRCm38)	splice site	probably benign
R0255:Tmx3	UTSW	18	90,540,006 (GRCm38)	missense	probably damaging	0.96
R0981:Tmx3	UTSW	18	90,537,200 (GRCm38)	missense	probably benign
R1528:Tmx3	UTSW	18	90,537,086 (GRCm38)	missense	possibly damaging	0.89
R1772:Tmx3	UTSW	18	90,532,997 (GRCm38)	missense	probably benign
R2144:Tmx3	UTSW	18	90,517,490 (GRCm38)	missense	probably damaging	1.00
R2155:Tmx3	UTSW	18	90,510,381 (GRCm38)	splice site	probably null
R2202:Tmx3	UTSW	18	90,527,913 (GRCm38)	missense	probably damaging	1.00
R2444:Tmx3	UTSW	18	90,540,183 (GRCm38)	missense	probably damaging	1.00
R2960:Tmx3	UTSW	18	90,532,992 (GRCm38)	missense	probably damaging	0.98
R3435:Tmx3	UTSW	18	90,527,904 (GRCm38)	missense	probably damaging	1.00
R4427:Tmx3	UTSW	18	90,523,601 (GRCm38)	missense	probably damaging	0.99
R4708:Tmx3	UTSW	18	90,521,039 (GRCm38)	critical splice donor site	probably null
R5748:Tmx3	UTSW	18	90,537,101 (GRCm38)	missense	probably benign	0.05
R5938:Tmx3	UTSW	18	90,527,934 (GRCm38)	missense	possibly damaging	0.79
R6266:Tmx3	UTSW	18	90,537,210 (GRCm38)	splice site	probably null
R7311:Tmx3	UTSW	18	90,540,071 (GRCm38)	missense	probably benign	0.13
R7637:Tmx3	UTSW	18	90,537,109 (GRCm38)	missense	probably damaging	0.99
R7649:Tmx3	UTSW	18	90,540,030 (GRCm38)	missense	probably damaging	1.00
R7772:Tmx3	UTSW	18	90,527,794 (GRCm38)	splice site	probably null
R7899:Tmx3	UTSW	18	90,527,874 (GRCm38)	critical splice acceptor site	probably null
R9319:Tmx3	UTSW	18	90,539,944 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AAGGTGACATGGTAGGAAATTCTC -3'
(R):5'- CAGGAAAAGACTGTATTTGCAGC -3'

Sequencing Primer
(F):5'- CTCCTACTGCTTATAGATAGCT -3'
(R):5'- GGTTTGATGCATATCACTGCTTAC -3'

Posted On

2015-04-17