Incidental Mutation 'R3435:Tmx3'
ID 267171
Institutional Source Beutler Lab
Gene Symbol Tmx3
Ensembl Gene ENSMUSG00000024614
Gene Name thioredoxin-related transmembrane protein 3
Synonyms A730024F05Rik, Txndc10, 6430411B10Rik
MMRRC Submission 040653-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.337) question?
Stock # R3435 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 90528336-90561391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 90546028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 203 (V203E)
Ref Sequence ENSEMBL: ENSMUSP00000025515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025515]
AlphaFold Q8BXZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000025515
AA Change: V203E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: V203E

DomainStartEndE-ValueType
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 0.9001 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (33/33)
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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A C 2: 68,432,189 (GRCm39) D91A unknown Het
Abca9 T C 11: 110,045,256 (GRCm39) E359G probably benign Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Dnah1 T C 14: 31,038,631 (GRCm39) D150G probably damaging Het
Fam47e T A 5: 92,733,221 (GRCm39) V152D probably damaging Het
Gm19965 C A 1: 116,749,353 (GRCm39) H345N possibly damaging Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Iqgap3 A G 3: 88,001,911 (GRCm39) I384V probably benign Het
Lrrc57 T A 2: 120,439,862 (GRCm39) probably benign Het
Mafk C T 5: 139,786,062 (GRCm39) Q87* probably null Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Neurl1a T C 19: 47,245,964 (GRCm39) V532A probably damaging Het
Nod2 A G 8: 89,390,637 (GRCm39) R293G possibly damaging Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or1j1 T A 2: 36,702,690 (GRCm39) Q138L probably benign Het
Osbpl3 A T 6: 50,325,050 (GRCm39) N149K possibly damaging Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Pbxip1 T C 3: 89,354,543 (GRCm39) L354P probably damaging Het
Pld1 A T 3: 28,178,772 (GRCm39) M889L probably benign Het
Ppp2r2b T A 18: 42,874,174 (GRCm39) Q52L possibly damaging Het
Prob1 T C 18: 35,787,294 (GRCm39) E320G possibly damaging Het
Stard13 A T 5: 150,965,644 (GRCm39) L937Q probably damaging Het
Strn4 T C 7: 16,571,558 (GRCm39) S563P possibly damaging Het
Syne1 T C 10: 5,298,565 (GRCm39) D1114G probably damaging Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Ttn T C 2: 76,709,062 (GRCm39) probably benign Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Other mutations in Tmx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Tmx3 APN 18 90,558,178 (GRCm39) missense possibly damaging 0.53
IGL01790:Tmx3 APN 18 90,529,458 (GRCm39) critical splice donor site probably null
IGL01888:Tmx3 APN 18 90,546,045 (GRCm39) missense probably benign 0.05
IGL02689:Tmx3 APN 18 90,555,240 (GRCm39) missense possibly damaging 0.70
IGL03212:Tmx3 APN 18 90,556,642 (GRCm39) missense probably damaging 0.98
R0243:Tmx3 UTSW 18 90,556,613 (GRCm39) splice site probably benign
R0255:Tmx3 UTSW 18 90,558,130 (GRCm39) missense probably damaging 0.96
R0981:Tmx3 UTSW 18 90,555,324 (GRCm39) missense probably benign
R1528:Tmx3 UTSW 18 90,555,210 (GRCm39) missense possibly damaging 0.89
R1772:Tmx3 UTSW 18 90,551,121 (GRCm39) missense probably benign
R2144:Tmx3 UTSW 18 90,535,614 (GRCm39) missense probably damaging 1.00
R2155:Tmx3 UTSW 18 90,528,505 (GRCm39) splice site probably null
R2202:Tmx3 UTSW 18 90,546,037 (GRCm39) missense probably damaging 1.00
R2444:Tmx3 UTSW 18 90,558,307 (GRCm39) missense probably damaging 1.00
R2960:Tmx3 UTSW 18 90,551,116 (GRCm39) missense probably damaging 0.98
R3946:Tmx3 UTSW 18 90,542,459 (GRCm39) missense possibly damaging 0.78
R4427:Tmx3 UTSW 18 90,541,725 (GRCm39) missense probably damaging 0.99
R4708:Tmx3 UTSW 18 90,539,163 (GRCm39) critical splice donor site probably null
R5748:Tmx3 UTSW 18 90,555,225 (GRCm39) missense probably benign 0.05
R5938:Tmx3 UTSW 18 90,546,058 (GRCm39) missense possibly damaging 0.79
R6266:Tmx3 UTSW 18 90,555,334 (GRCm39) splice site probably null
R7311:Tmx3 UTSW 18 90,558,195 (GRCm39) missense probably benign 0.13
R7637:Tmx3 UTSW 18 90,555,233 (GRCm39) missense probably damaging 0.99
R7649:Tmx3 UTSW 18 90,558,154 (GRCm39) missense probably damaging 1.00
R7772:Tmx3 UTSW 18 90,545,918 (GRCm39) splice site probably null
R7899:Tmx3 UTSW 18 90,545,998 (GRCm39) critical splice acceptor site probably null
R9319:Tmx3 UTSW 18 90,558,068 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCCAGGGAGGTATCTGAAAACA -3'
(R):5'- CTCTACCAAATGCAACACTGG -3'

Sequencing Primer
(F):5'- GGACTTGCAAACTTTATATGCCCCAG -3'
(R):5'- ACACTGGTAGCACTTACAAAATC -3'
Posted On 2015-02-18