Incidental Mutation 'R2444:Tmx3'
ID 249936
Institutional Source Beutler Lab
Gene Symbol Tmx3
Ensembl Gene ENSMUSG00000024614
Gene Name thioredoxin-related transmembrane protein 3
Synonyms A730024F05Rik, Txndc10, 6430411B10Rik
MMRRC Submission 040402-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.337) question?
Stock # R2444 (G1)
Quality Score 225
Status Not validated
Chromosome 18
Chromosomal Location 90528336-90561391 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 90558307 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Methionine at position 453 (K453M)
Ref Sequence ENSEMBL: ENSMUSP00000025515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025515]
AlphaFold Q8BXZ1
Predicted Effect probably damaging
Transcript: ENSMUST00000025515
AA Change: K453M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: K453M

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
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 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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik A T 10: 78,904,561 (GRCm39) D112E possibly damaging Het
Abca15 A G 7: 119,965,120 (GRCm39) Y794C probably damaging Het
Bicd2 T C 13: 49,532,500 (GRCm39) V362A probably benign Het
Cep126 G A 9: 8,101,307 (GRCm39) T409M probably damaging Het
Cep131 A G 11: 119,961,321 (GRCm39) F610S probably damaging Het
Cfap61 T C 2: 145,877,239 (GRCm39) probably null Het
Chd1l A G 3: 97,497,882 (GRCm39) Y320H probably damaging Het
Dnajc30 A G 5: 135,093,439 (GRCm39) D112G probably damaging Het
Dync2i1 T C 12: 116,196,289 (GRCm39) D486G possibly damaging Het
Fam184a A C 10: 53,517,045 (GRCm39) L410R probably damaging Het
Fat2 T C 11: 55,172,799 (GRCm39) N2638S probably damaging Het
Fgf15 A G 7: 144,453,429 (GRCm39) D134G probably benign Het
Flywch2 A T 17: 23,996,024 (GRCm39) S124R possibly damaging Het
Gabra5 G A 7: 57,058,623 (GRCm39) T375I probably benign Het
Gpat3 C T 5: 101,005,039 (GRCm39) P58L probably benign Het
Hltf T A 3: 20,118,071 (GRCm39) N44K possibly damaging Het
Hoatz A G 9: 51,011,298 (GRCm39) probably null Het
Kcnb2 A T 1: 15,779,791 (GRCm39) N221I probably benign Het
Marco G A 1: 120,422,499 (GRCm39) T61M probably damaging Het
Med13 A G 11: 86,222,786 (GRCm39) I180T probably damaging Het
Mei1 C T 15: 81,997,142 (GRCm39) T626M probably damaging Het
Mtnr1a C T 8: 45,540,695 (GRCm39) Q219* probably null Het
Nav3 A G 10: 109,600,776 (GRCm39) S1284P probably benign Het
Or1j10 T C 2: 36,267,625 (GRCm39) V279A possibly damaging Het
Or7g30 T A 9: 19,352,311 (GRCm39) I34K possibly damaging Het
Pcdh9 T A 14: 94,124,227 (GRCm39) T648S probably benign Het
Proz A T 8: 13,111,027 (GRCm39) probably benign Het
Rec114 G T 9: 58,567,602 (GRCm39) A128E probably damaging Het
Rspry1 G T 8: 95,349,735 (GRCm39) G41V probably damaging Het
Sbf2 A T 7: 109,929,905 (GRCm39) M1388K probably benign Het
Spice1 C T 16: 44,186,931 (GRCm39) Q143* probably null Het
Tcstv3 A T 13: 120,779,365 (GRCm39) K88M probably damaging Het
Terb2 T A 2: 122,023,788 (GRCm39) probably null Het
Tnc T C 4: 63,933,200 (GRCm39) Y688C probably damaging Het
Tshz2 T G 2: 169,726,726 (GRCm39) S441A probably benign Het
Usp45 A T 4: 21,817,528 (GRCm39) M399L probably benign Het
Vmn2r82 A T 10: 79,213,702 (GRCm39) H96L possibly damaging Het
Wls G A 3: 159,612,867 (GRCm39) R261Q probably damaging 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
R2960:Tmx3 UTSW 18 90,551,116 (GRCm39) missense probably damaging 0.98
R3435:Tmx3 UTSW 18 90,546,028 (GRCm39) missense probably damaging 1.00
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'- ACTGGGTGTCATCAGTATCATG -3'
(R):5'- GACAAACTGTTCATCACTTTGTTCC -3'

Sequencing Primer
(F):5'- GTGCTATGGAATCTATACAGCTGAC -3'
(R):5'- CCAAACATCTTCCTACTTATGGAAG -3'
Posted On 2014-11-12