Incidental Mutation 'IGL01790:Tmx3'
ID 155197
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmx3
Ensembl Gene ENSMUSG00000024614
Gene Name thioredoxin-related transmembrane protein 3
Synonyms A730024F05Rik, Txndc10, 6430411B10Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.337) question?
Stock # IGL01790
Quality Score
Status
Chromosome 18
Chromosomal Location 90528336-90561391 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 90529458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000025515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025515]
AlphaFold Q8BXZ1
Predicted Effect probably null
Transcript: ENSMUST00000025515
SMART Domains Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614

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
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Astn1 T C 1: 158,407,897 (GRCm39) I618T possibly damaging Het
Bod1l T C 5: 41,989,593 (GRCm39) S377G probably benign Het
Disp2 A T 2: 118,621,361 (GRCm39) S698C probably damaging Het
Ehbp1l1 A G 19: 5,773,012 (GRCm39) V43A probably damaging Het
Eml5 G T 12: 98,765,191 (GRCm39) T1539K probably damaging Het
Fmnl2 T C 2: 53,008,380 (GRCm39) I824T probably damaging Het
Gpr75 T G 11: 30,841,132 (GRCm39) N12K probably damaging Het
Hap1 C T 11: 100,242,732 (GRCm39) probably null Het
Helz2 A C 2: 180,880,274 (GRCm39) Y481D probably benign Het
Klhl3 T C 13: 58,157,236 (GRCm39) probably null Het
Lrcol1 A G 5: 110,502,073 (GRCm39) S49G probably damaging Het
Magi3 A G 3: 103,992,560 (GRCm39) M304T probably damaging Het
Med13l T C 5: 118,731,587 (GRCm39) W88R probably damaging Het
Nfatc1 A G 18: 80,710,257 (GRCm39) V503A probably damaging Het
Ntm C A 9: 29,322,886 (GRCm39) V45L probably benign Het
Or4c100 A G 2: 88,356,767 (GRCm39) N280S probably damaging Het
Or4f60 T A 2: 111,902,266 (GRCm39) I221L probably benign Het
Or4p22 T A 2: 88,317,270 (GRCm39) S65T possibly damaging Het
Or5b116 A G 19: 13,422,526 (GRCm39) D50G probably damaging Het
Or7a40 T C 16: 16,490,967 (GRCm39) R293G probably damaging Het
Pias4 T C 10: 80,993,332 (GRCm39) Q197R probably damaging Het
Pkhd1 T A 1: 20,628,895 (GRCm39) H684L probably damaging Het
Prr5 A C 15: 84,651,415 (GRCm39) I288L possibly damaging Het
Psmb3 T A 11: 97,603,336 (GRCm39) M183K probably damaging Het
Rasal1 T C 5: 120,808,383 (GRCm39) F472L possibly damaging Het
Rpl3 A T 15: 79,964,061 (GRCm39) probably benign Het
Scin A T 12: 40,113,256 (GRCm39) D538E probably benign Het
Sdhb T C 4: 140,701,038 (GRCm39) S165P probably benign Het
Slc43a2 C A 11: 75,436,577 (GRCm39) probably null Het
Sparc C T 11: 55,298,041 (GRCm39) probably null Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Tcf25 A G 8: 124,119,975 (GRCm39) E382G possibly damaging Het
Trim24 C T 6: 37,922,548 (GRCm39) P452S probably benign Het
Vsig10 T A 5: 117,476,379 (GRCm39) W278R probably damaging Het
Other mutations in Tmx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Tmx3 APN 18 90,558,178 (GRCm39) missense possibly damaging 0.53
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
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
Posted On 2014-02-04