Incidental Mutation 'IGL02458:Tmx2'
ID294532
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmx2
Ensembl Gene ENSMUSG00000050043
Gene Namethioredoxin-related transmembrane protein 2
Synonyms2310042M24Rik, Txndc14
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02458
Quality Score
Status
Chromosome2
Chromosomal Location84671316-84679140 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) A to T at 84673244 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139492 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053664] [ENSMUST00000102646] [ENSMUST00000102647] [ENSMUST00000111664] [ENSMUST00000111665] [ENSMUST00000117299] [ENSMUST00000133437] [ENSMUST00000152149] [ENSMUST00000189636] [ENSMUST00000189772] [ENSMUST00000189988]
Predicted Effect probably benign
Transcript: ENSMUST00000053664
SMART Domains Protein: ENSMUSP00000059582
Gene: ENSMUSG00000050043

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Rdx 28 114 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000102647
SMART Domains Protein: ENSMUSP00000099707
Gene: ENSMUSG00000076437

DomainStartEndE-ValueType
Pfam:Rdx 28 114 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111664
SMART Domains Protein: ENSMUSP00000107293
Gene: ENSMUSG00000050043

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Rdx 28 114 2.4e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123772
Predicted Effect probably benign
Transcript: ENSMUST00000133437
SMART Domains Protein: ENSMUSP00000142247
Gene: ENSMUSG00000086598

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000138529
Predicted Effect probably benign
Transcript: ENSMUST00000152149
SMART Domains Protein: ENSMUSP00000115745
Gene: ENSMUSG00000050043

DomainStartEndE-ValueType
transmembrane domain 20 39 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154179
Predicted Effect probably benign
Transcript: ENSMUST00000189636
SMART Domains Protein: ENSMUSP00000139830
Gene: ENSMUSG00000076437

DomainStartEndE-ValueType
Pfam:Rdx 28 109 1.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189772
SMART Domains Protein: ENSMUSP00000141166
Gene: ENSMUSG00000101645

DomainStartEndE-ValueType
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: ENSMUST00000189988
SMART Domains Protein: ENSMUSP00000139492
Gene: ENSMUSG00000076437

DomainStartEndE-ValueType
Pfam:Rdx 28 96 1e-6 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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam25 A T 8: 40,753,807 I37L probably benign Het
Alpk1 A G 3: 127,681,319 probably null Het
Ankrd33 T C 15: 101,116,607 F8L probably damaging Het
Avil A G 10: 127,016,353 K669R probably benign Het
Bcor G T X: 12,048,510 L1165I probably damaging Het
C7 A G 15: 5,059,389 probably benign Het
Cc2d2a A G 5: 43,718,554 I958V probably benign Het
Cenpe A T 3: 135,230,108 K435* probably null Het
Chrna7 G A 7: 63,106,094 L235F probably damaging Het
Col6a3 C A 1: 90,779,197 V2065L unknown Het
Copb1 A T 7: 114,246,785 N183K probably benign Het
Cpn2 G A 16: 30,260,835 A16V probably benign Het
Cul1 A G 6: 47,525,608 K769E possibly damaging Het
Ddx58 A G 4: 40,229,536 S83P probably damaging Het
Deup1 C T 9: 15,592,360 V302M probably benign Het
Dnah17 T C 11: 118,036,350 K3871E probably damaging Het
Dnah6 A G 6: 73,027,448 V3844A probably benign Het
Dnah7a A T 1: 53,618,328 L763* probably null Het
Donson A T 16: 91,681,176 W461R probably damaging Het
Dpp10 T C 1: 123,341,689 I664V probably benign Het
Dusp8 T A 7: 142,082,747 T369S probably benign Het
Dync2h1 A T 9: 7,117,422 L56Q probably damaging Het
Ecd A T 14: 20,324,477 S532T probably benign Het
Frg2f1 G A 4: 119,530,957 T115I probably damaging Het
Gpatch2l A G 12: 86,288,961 probably benign Het
Gtf3c2 T A 5: 31,159,523 probably null Het
Haghl T C 17: 25,783,496 probably benign Het
Hoxc8 A T 15: 102,992,749 N208I probably damaging Het
Igf2 T C 7: 142,654,048 D115G probably benign Het
Jag2 T A 12: 112,915,993 D385V probably damaging Het
Laptm4b A G 15: 34,258,742 H54R probably benign Het
Lrp2 A G 2: 69,521,773 S640P probably damaging Het
Map3k8 A C 18: 4,334,660 V328G probably damaging Het
Mfsd13a A G 19: 46,372,247 E388G probably damaging Het
Ms4a13 G A 19: 11,171,928 T168I probably benign Het
Mtg1 C A 7: 140,150,172 Q294K probably benign Het
Myh3 C T 11: 67,096,940 A1413V possibly damaging Het
Neo1 A T 9: 58,893,867 probably benign Het
Ogfod3 T C 11: 121,200,923 E119G probably benign Het
Olfr1250 A G 2: 89,657,348 L31P probably damaging Het
Olfr1331 A G 4: 118,869,300 N173S possibly damaging Het
Olfr331 A T 11: 58,502,247 M109K probably benign Het
Olfr800 A T 10: 129,660,606 I267F probably benign Het
Olfr988 G A 2: 85,353,662 T88I probably benign Het
Parvb G T 15: 84,303,434 D248Y probably damaging Het
Pcdh11x A T X: 120,400,618 H586L possibly damaging Het
Phactr2 T C 10: 13,261,828 E120G probably damaging Het
Ppfibp2 A T 7: 107,742,964 Q775L probably damaging Het
Rcbtb1 A G 14: 59,229,994 Y427C probably damaging Het
Rftn2 A T 1: 55,211,192 C131* probably null Het
Rps6ka2 A G 17: 7,289,003 D474G probably benign Het
Rsbn1l T C 5: 20,951,736 E17G probably damaging Het
Ryr2 T C 13: 11,705,699 M2688V probably benign Het
Slc22a18 C A 7: 143,492,837 probably benign Het
Smarcc1 A G 9: 110,132,126 probably benign Het
Soat2 T C 15: 102,162,115 V451A probably damaging Het
Sptlc2 A T 12: 87,309,893 probably benign Het
Tada1 C T 1: 166,392,634 L308F probably damaging Het
Tango2 A T 16: 18,310,867 probably null Het
Tbc1d15 A T 10: 115,229,206 V158D probably damaging Het
Tcrg-V3 A G 13: 19,243,253 Y102C probably damaging Het
Tpte T A 8: 22,305,858 I79K probably benign Het
Trav6-1 A G 14: 52,638,742 I40V probably benign Het
Ubash3a T C 17: 31,231,481 S377P possibly damaging Het
Vmn2r7 T C 3: 64,693,025 D575G probably damaging Het
Vps41 A G 13: 18,853,479 D704G possibly damaging Het
Vwa5a T C 9: 38,726,963 S261P possibly damaging Het
Zc3hav1 A G 6: 38,340,329 V112A probably damaging Het
Other mutations in Tmx2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00327:Tmx2 APN 2 84673299 missense probably benign
R0201:Tmx2 UTSW 2 84673082 missense probably benign
R0240:Tmx2 UTSW 2 84675842 missense probably damaging 1.00
R0240:Tmx2 UTSW 2 84675842 missense probably damaging 1.00
R0269:Tmx2 UTSW 2 84672396 missense probably benign 0.21
R0617:Tmx2 UTSW 2 84672396 missense probably benign 0.21
R1651:Tmx2 UTSW 2 84676117 missense probably damaging 0.99
R4791:Tmx2 UTSW 2 84677996 missense probably damaging 1.00
R5793:Tmx2 UTSW 2 84676157 missense probably damaging 1.00
X0064:Tmx2 UTSW 2 84676095 critical splice donor site probably null
Posted On2015-04-16