Incidental Mutation 'R3946:Tmx3'
ID 307736
Institutional Source Beutler Lab
Gene Symbol Tmx3
Ensembl Gene ENSMUSG00000024614
Gene Name thioredoxin-related transmembrane protein 3
Synonyms 6430411B10Rik, A730024F05Rik, Txndc10
MMRRC Submission 040827-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.264) question?
Stock # R3946 (G1)
Quality Score 225
Status Validated
Chromosome 18
Chromosomal Location 90510154-90543267 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 90524335 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 186 (A186T)
Ref Sequence ENSEMBL: ENSMUSP00000025515 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025515]
AlphaFold Q8BXZ1
Predicted Effect possibly damaging
Transcript: ENSMUST00000025515
AA Change: A186T

PolyPhen 2 Score 0.782 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000025515
Gene: ENSMUSG00000024614
AA Change: A186T

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 0.1508 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 98% (60/61)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaed1 T C 13: 64,309,098 (GRCm38) I104V probably damaging Het
Abi2 A G 1: 60,453,754 (GRCm38) Q328R probably damaging Het
Agr3 C A 12: 35,947,513 (GRCm38) probably benign Het
Brca2 T A 5: 150,536,704 (GRCm38) S481R probably damaging Het
Cabin1 T G 10: 75,745,259 (GRCm38) Q411P probably damaging Het
Calr3 A G 8: 72,443,620 (GRCm38) Y22H probably damaging Het
Caprin1 T A 2: 103,796,766 (GRCm38) I59F probably damaging Het
Cdk5rap1 T C 2: 154,348,716 (GRCm38) T442A probably damaging Het
Chn2 T C 6: 54,269,426 (GRCm38) probably benign Het
Cic C A 7: 25,272,346 (GRCm38) R501S possibly damaging Het
Coch A G 12: 51,601,812 (GRCm38) probably null Het
Defa25 G A 8: 21,084,490 (GRCm38) V17I probably null Het
Dglucy T C 12: 100,838,700 (GRCm38) probably null Het
Dtx1 T G 5: 120,681,286 (GRCm38) T616P possibly damaging Het
Eef1g T C 19: 8,969,977 (GRCm38) L171P probably benign Het
Fam135a A G 1: 24,030,394 (GRCm38) S465P probably damaging Het
Gm14025 A G 2: 129,039,601 (GRCm38) L135P probably damaging Het
Gm14412 A T 2: 177,314,685 (GRCm38) C472* probably null Het
Gm7104 T C 12: 88,286,042 (GRCm38) noncoding transcript Het
Got2 A G 8: 95,888,230 (GRCm38) S26P probably benign Het
H2-M11 A G 17: 36,549,231 (GRCm38) I329M probably damaging Het
Hmcn2 T A 2: 31,382,394 (GRCm38) D1295E possibly damaging Het
Hoxd12 G T 2: 74,675,427 (GRCm38) R114L probably damaging Het
Ilkap A C 1: 91,387,250 (GRCm38) D124E probably damaging Het
Med6 T C 12: 81,581,851 (GRCm38) Y88C probably damaging Het
Mep1a A T 17: 43,475,041 (GRCm38) L719* probably null Het
Mmp23 T C 4: 155,652,023 (GRCm38) Y187C probably damaging Het
Myo1g A G 11: 6,520,760 (GRCm38) M32T possibly damaging Het
Ncstn T C 1: 172,067,494 (GRCm38) E614G probably benign Het
Nr2c2 C T 6: 92,163,138 (GRCm38) R464W probably damaging Het
Olfr1309 G A 2: 111,983,297 (GRCm38) T259M possibly damaging Het
Otub2 T A 12: 103,392,826 (GRCm38) L58* probably null Het
Pcdhga12 G A 18: 37,767,629 (GRCm38) V505I probably benign Het
Pcdhga9 T A 18: 37,737,844 (GRCm38) V242D probably damaging Het
Pex1 C T 5: 3,626,084 (GRCm38) L891F probably damaging Het
Pgm1 C T 5: 64,112,061 (GRCm38) T497I probably benign Het
Pikfyve T C 1: 65,196,681 (GRCm38) F171L probably damaging Het
Pilrb1 T G 5: 137,857,392 (GRCm38) K79T probably benign Het
Pin1 C T 9: 20,655,364 (GRCm38) R21W probably damaging Het
Ptprq A G 10: 107,686,392 (GRCm38) probably benign Het
Rad17 G A 13: 100,622,863 (GRCm38) A552V possibly damaging Het
Rbbp8 A G 18: 11,718,868 (GRCm38) T249A probably benign Het
Rtkn A T 6: 83,135,976 (GRCm38) I10F probably benign Het
Scube2 T A 7: 109,857,590 (GRCm38) I103F possibly damaging Het
Sec23b A G 2: 144,581,973 (GRCm38) H514R probably benign Het
Serbp1 T A 6: 67,272,220 (GRCm38) D223E probably benign Het
Slc14a1 C A 18: 78,111,392 (GRCm38) V260L probably benign Het
Slc22a23 A G 13: 34,183,126 (GRCm38) I633T probably damaging Het
Stk19 A T 17: 34,824,747 (GRCm38) probably benign Het
Svs2 T C 2: 164,237,127 (GRCm38) M287V probably benign Het
Syne3 T A 12: 104,958,066 (GRCm38) Q358L probably damaging Het
Synj1 A G 16: 91,010,096 (GRCm38) F58L possibly damaging Het
Tg T C 15: 66,674,023 (GRCm38) V198A probably damaging Het
Tle4 A T 19: 14,597,388 (GRCm38) Y9N probably damaging Het
Tmem57 A G 4: 134,804,481 (GRCm38) Y626H probably damaging Het
Traf3 G A 12: 111,255,245 (GRCm38) S280N possibly damaging Het
Trmt13 A G 3: 116,581,518 (GRCm38) F447S probably damaging Het
Trp53bp1 T A 2: 121,228,626 (GRCm38) H918L probably damaging Het
Ush2a T G 1: 188,728,504 (GRCm38) V2654G probably benign Het
Vmn2r25 A G 6: 123,840,098 (GRCm38) Y175H probably damaging Het
Zfp335 T C 2: 164,892,189 (GRCm38) D1330G probably damaging Het
Other mutations in Tmx3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00946:Tmx3 APN 18 90,540,054 (GRCm38) missense possibly damaging 0.53
IGL01790:Tmx3 APN 18 90,511,334 (GRCm38) critical splice donor site probably null
IGL01888:Tmx3 APN 18 90,527,921 (GRCm38) missense probably benign 0.05
IGL02689:Tmx3 APN 18 90,537,116 (GRCm38) missense possibly damaging 0.70
IGL03212:Tmx3 APN 18 90,538,518 (GRCm38) missense probably damaging 0.98
R0243:Tmx3 UTSW 18 90,538,489 (GRCm38) splice site probably benign
R0255:Tmx3 UTSW 18 90,540,006 (GRCm38) missense probably damaging 0.96
R0981:Tmx3 UTSW 18 90,537,200 (GRCm38) missense probably benign
R1528:Tmx3 UTSW 18 90,537,086 (GRCm38) missense possibly damaging 0.89
R1772:Tmx3 UTSW 18 90,532,997 (GRCm38) missense probably benign
R2144:Tmx3 UTSW 18 90,517,490 (GRCm38) missense probably damaging 1.00
R2155:Tmx3 UTSW 18 90,510,381 (GRCm38) splice site probably null
R2202:Tmx3 UTSW 18 90,527,913 (GRCm38) missense probably damaging 1.00
R2444:Tmx3 UTSW 18 90,540,183 (GRCm38) missense probably damaging 1.00
R2960:Tmx3 UTSW 18 90,532,992 (GRCm38) missense probably damaging 0.98
R3435:Tmx3 UTSW 18 90,527,904 (GRCm38) missense probably damaging 1.00
R4427:Tmx3 UTSW 18 90,523,601 (GRCm38) missense probably damaging 0.99
R4708:Tmx3 UTSW 18 90,521,039 (GRCm38) critical splice donor site probably null
R5748:Tmx3 UTSW 18 90,537,101 (GRCm38) missense probably benign 0.05
R5938:Tmx3 UTSW 18 90,527,934 (GRCm38) missense possibly damaging 0.79
R6266:Tmx3 UTSW 18 90,537,210 (GRCm38) splice site probably null
R7311:Tmx3 UTSW 18 90,540,071 (GRCm38) missense probably benign 0.13
R7637:Tmx3 UTSW 18 90,537,109 (GRCm38) missense probably damaging 0.99
R7649:Tmx3 UTSW 18 90,540,030 (GRCm38) missense probably damaging 1.00
R7772:Tmx3 UTSW 18 90,527,794 (GRCm38) splice site probably null
R7899:Tmx3 UTSW 18 90,527,874 (GRCm38) critical splice acceptor site probably null
R9319:Tmx3 UTSW 18 90,539,944 (GRCm38) missense probably benign 0.05
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-04-17