Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00327:Tmx2'

7137

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 #

IGL00327

Quality Score

Status

Chromosome

Chromosomal Location

84501655-84509172 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84503643 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 190 (N190S)

Ref Sequence

ENSEMBL: ENSMUSP00000107294 (fasta)

Gene Model

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

AlphaFold

Q9D710

Predicted Effect

probably benign
Transcript: ENSMUST00000053664
AA Change: N190S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043
AA Change: N190S

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
AA Change: N152S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043
AA Change: N152S

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
AA Change: N190S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000107294
Gene: ENSMUSG00000050043
AA Change: N190S

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: 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

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: 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: ENSMUST00000189636

SMART Domains

Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atg16l2	A	G	7: 100,949,367 (GRCm39)	L60S	probably damaging	Het
Aup1	A	G	6: 83,033,390 (GRCm39)	E267G	probably damaging	Het
Bpi	T	C	2: 158,116,764 (GRCm39)		probably benign	Het
Brinp2	A	G	1: 158,074,670 (GRCm39)	Y484H	probably benign	Het
Colq	C	T	14: 31,257,545 (GRCm39)		probably null	Het
Cubn	T	C	2: 13,431,867 (GRCm39)	D1242G	possibly damaging	Het
Dclre1c	T	A	2: 3,434,821 (GRCm39)	L95*	probably null	Het
Fry	C	T	5: 150,263,869 (GRCm39)	R171*	probably null	Het
Krt23	T	C	11: 99,383,610 (GRCm39)	E94G	probably damaging	Het
Krt6b	T	G	15: 101,588,267 (GRCm39)	Q131P	probably benign	Het
Lonp1	A	G	17: 56,926,265 (GRCm39)	L414P	probably damaging	Het
Lrit2	T	A	14: 36,793,920 (GRCm39)	M328K	probably benign	Het
Lysmd3	C	T	13: 81,813,197 (GRCm39)	L22F	probably benign	Het
Map3k20	A	G	2: 72,242,514 (GRCm39)	D388G	probably damaging	Het
Mrpl44	C	T	1: 79,758,721 (GRCm39)	L290F	probably benign	Het
Nell1	A	G	7: 49,770,421 (GRCm39)	H160R	probably damaging	Het
Nlrc3	T	C	16: 3,773,030 (GRCm39)	N109S	probably damaging	Het
Prpf40a	T	C	2: 53,040,700 (GRCm39)	T553A	probably benign	Het
Ptpn23	G	T	9: 110,217,174 (GRCm39)	T894K	probably benign	Het
Scgb2b27	A	G	7: 33,712,771 (GRCm39)	C24R	probably damaging	Het
Sipa1l3	G	T	7: 29,053,558 (GRCm39)	H140N	probably damaging	Het
Slc22a23	T	G	13: 34,489,228 (GRCm39)	D219A	probably damaging	Het
Slc9a7	T	C	X: 20,005,158 (GRCm39)	Y557C	probably damaging	Het
Slco1a1	A	T	6: 141,854,851 (GRCm39)	I600N	probably damaging	Het
Tpr	T	G	1: 150,299,447 (GRCm39)		probably benign	Het
Yme1l1	T	C	2: 23,082,512 (GRCm39)	V501A	probably benign	Het

Other mutations in Tmx2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Tmx2	APN	2	84,503,588 (GRCm39)	unclassified	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

2012-04-20