Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Tmx2'

294532

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmx2

Ensembl Gene

ENSMUSG00000050043

Gene Name

thioredoxin-related transmembrane protein 2

Synonyms

2310042M24Rik, Txndc14

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

84501655-84509172 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 84503588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139492 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053664] [ENSMUST00000102646] [ENSMUST00000102647] [ENSMUST00000111664] [ENSMUST00000111665] [ENSMUST00000117299] [ENSMUST00000189772] [ENSMUST00000189636] [ENSMUST00000189988] [ENSMUST00000152149] [ENSMUST00000133437]

AlphaFold

Q9D710

Predicted Effect

probably benign
Transcript: ENSMUST00000053664

SMART Domains

Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102646

SMART Domains

Protein: ENSMUSP00000099706
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000102647

SMART Domains

Protein: ENSMUSP00000099707
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111664

SMART Domains

Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
low complexity region	27	38	N/A	INTRINSIC
Pfam:Thioredoxin	99	205	1.6e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111665

SMART Domains

Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC
transmembrane domain	103	125	N/A	INTRINSIC
Pfam:Thioredoxin	137	243	3.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000117299

SMART Domains

Protein: ENSMUSP00000112635
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	114	2.4e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123772

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154179

Predicted Effect

probably benign
Transcript: ENSMUST00000189772

SMART Domains

Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645

Domain	Start	End	E-Value	Type
coiled coil region	10	45	N/A	INTRINSIC
low complexity region	126	153	N/A	INTRINSIC
ARM	397	437	2.53e-6	SMART
ARM	440	481	2.8e-8	SMART
ARM	482	539	6.3e1	SMART
ARM	541	588	3.74e0	SMART
Blast:ARM	651	693	9e-20	BLAST
ARM	699	739	1.23e-4	SMART
ARM	789	831	4.41e1	SMART
low complexity region	857	868	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189636

SMART Domains

Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	109	1.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189988

SMART Domains

Protein: ENSMUSP00000139492
Gene: ENSMUSG00000076437

Domain	Start	End	E-Value	Type
Pfam:Rdx	28	96	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152149

SMART Domains

Protein: ENSMUSP00000115745
Gene: ENSMUSG00000050043

Domain	Start	End	E-Value	Type
transmembrane domain	20	39	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000133437

SMART Domains

Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598

Domain	Start	End	E-Value	Type
BTB	34	132	4.96e-11	SMART
low complexity region	217	230	N/A	INTRINSIC
low complexity region	271	286	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

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 protein is enriched on the mitochondria-associated-membrane of the ER via palmitoylation of two of its cytosolically exposed cysteines. [provided by RefSeq, Jan 2017]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 41,206,844 (GRCm39)	I37L	probably benign	Het
Alpk1	A	G	3: 127,474,968 (GRCm39)		probably null	Het
Ankrd33	T	C	15: 101,014,488 (GRCm39)	F8L	probably damaging	Het
Avil	A	G	10: 126,852,222 (GRCm39)	K669R	probably benign	Het
Bcor	G	T	X: 11,914,749 (GRCm39)	L1165I	probably damaging	Het
C7	A	G	15: 5,088,871 (GRCm39)		probably benign	Het
Cc2d2a	A	G	5: 43,875,896 (GRCm39)	I958V	probably benign	Het
Cenpe	A	T	3: 134,935,869 (GRCm39)	K435*	probably null	Het
Chrna7	G	A	7: 62,755,842 (GRCm39)	L235F	probably damaging	Het
Col6a3	C	A	1: 90,706,919 (GRCm39)	V2065L	unknown	Het
Copb1	A	T	7: 113,846,020 (GRCm39)	N183K	probably benign	Het
Cpn2	G	A	16: 30,079,653 (GRCm39)	A16V	probably benign	Het
Cul1	A	G	6: 47,502,542 (GRCm39)	K769E	possibly damaging	Het
Deup1	C	T	9: 15,503,656 (GRCm39)	V302M	probably benign	Het
Dnah17	T	C	11: 117,927,176 (GRCm39)	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,004,431 (GRCm39)	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,657,487 (GRCm39)	L763*	probably null	Het
Donson	A	T	16: 91,478,064 (GRCm39)	W461R	probably damaging	Het
Dpp10	T	C	1: 123,269,418 (GRCm39)	I664V	probably benign	Het
Dusp8	T	A	7: 141,636,484 (GRCm39)	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422 (GRCm39)	L56Q	probably damaging	Het
Ecd	A	T	14: 20,374,545 (GRCm39)	S532T	probably benign	Het
Frg2f1	G	A	4: 119,388,154 (GRCm39)	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,335,735 (GRCm39)		probably benign	Het
Gtf3c2	T	A	5: 31,316,867 (GRCm39)		probably null	Het
Haghl	T	C	17: 26,002,470 (GRCm39)		probably benign	Het
Hoxc8	A	T	15: 102,901,181 (GRCm39)	N208I	probably damaging	Het
Igf2	T	C	7: 142,207,785 (GRCm39)	D115G	probably benign	Het
Jag2	T	A	12: 112,879,613 (GRCm39)	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,888 (GRCm39)	H54R	probably benign	Het
Lrp2	A	G	2: 69,352,117 (GRCm39)	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660 (GRCm39)	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,360,686 (GRCm39)	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,149,292 (GRCm39)	T168I	probably benign	Het
Mtg1	C	A	7: 139,730,085 (GRCm39)	Q294K	probably benign	Het
Myh3	C	T	11: 66,987,766 (GRCm39)	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,801,150 (GRCm39)		probably benign	Het
Ogfod3	T	C	11: 121,091,749 (GRCm39)	E119G	probably benign	Het
Or10ak9	A	G	4: 118,726,497 (GRCm39)	N173S	possibly damaging	Het
Or2t49	A	T	11: 58,393,073 (GRCm39)	M109K	probably benign	Het
Or4a77	A	G	2: 89,487,692 (GRCm39)	L31P	probably damaging	Het
Or5ak20	G	A	2: 85,184,006 (GRCm39)	T88I	probably benign	Het
Or6c210	A	T	10: 129,496,475 (GRCm39)	I267F	probably benign	Het
Parvb	G	T	15: 84,187,635 (GRCm39)	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 119,310,315 (GRCm39)	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,137,572 (GRCm39)	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,342,171 (GRCm39)	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,467,443 (GRCm39)	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,250,351 (GRCm39)	C131*	probably null	Het
Rigi	A	G	4: 40,229,536 (GRCm39)	S83P	probably damaging	Het
Rps6ka2	A	G	17: 7,556,402 (GRCm39)	D474G	probably benign	Het
Rsbn1l	T	C	5: 21,156,734 (GRCm39)	E17G	probably damaging	Het
Ryr2	T	C	13: 11,720,585 (GRCm39)	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,046,574 (GRCm39)		probably benign	Het
Smarcc1	A	G	9: 109,961,194 (GRCm39)		probably benign	Het
Soat2	T	C	15: 102,070,550 (GRCm39)	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,356,667 (GRCm39)		probably benign	Het
Tada1	C	T	1: 166,220,203 (GRCm39)	L308F	probably damaging	Het
Tango2	A	T	16: 18,128,731 (GRCm39)		probably null	Het
Tbc1d15	A	T	10: 115,065,111 (GRCm39)	V158D	probably damaging	Het
Tpte	T	A	8: 22,795,874 (GRCm39)	I79K	probably benign	Het
Trav6-1	A	G	14: 52,876,199 (GRCm39)	I40V	probably benign	Het
Trgv3	A	G	13: 19,427,423 (GRCm39)	Y102C	probably damaging	Het
Ubash3a	T	C	17: 31,450,455 (GRCm39)	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,600,446 (GRCm39)	D575G	probably damaging	Het
Vps41	A	G	13: 19,037,649 (GRCm39)	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,638,259 (GRCm39)	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,317,264 (GRCm39)	V112A	probably damaging	Het

Other mutations in Tmx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00327:Tmx2	APN	2	84,503,643 (GRCm39)	missense	probably benign
R0201:Tmx2	UTSW	2	84,503,426 (GRCm39)	missense	probably benign
R0240:Tmx2	UTSW	2	84,506,186 (GRCm39)	missense	probably damaging	1.00
R0240:Tmx2	UTSW	2	84,506,186 (GRCm39)	missense	probably damaging	1.00
R0269:Tmx2	UTSW	2	84,502,740 (GRCm39)	missense	probably benign	0.21
R0617:Tmx2	UTSW	2	84,502,740 (GRCm39)	missense	probably benign	0.21
R1651:Tmx2	UTSW	2	84,506,461 (GRCm39)	missense	probably damaging	0.99
R4791:Tmx2	UTSW	2	84,508,340 (GRCm39)	missense	probably damaging	1.00
R5793:Tmx2	UTSW	2	84,506,501 (GRCm39)	missense	probably damaging	1.00
R7990:Tmx2	UTSW	2	84,506,480 (GRCm39)	missense	probably damaging	1.00
R8739:Tmx2	UTSW	2	84,505,745 (GRCm39)	unclassified	probably benign
R9160:Tmx2	UTSW	2	84,503,907 (GRCm39)	missense	probably damaging	1.00
X0064:Tmx2	UTSW	2	84,506,439 (GRCm39)	critical splice donor site	probably null

Posted On

2015-04-16