Incidental Mutation 'R2921:Tmx1'
ID 255543
Institutional Source Beutler Lab
Gene Symbol Tmx1
Ensembl Gene ENSMUSG00000021072
Gene Name thioredoxin-related transmembrane protein 1
Synonyms Txndc1, 2810425A04Rik
MMRRC Submission 040506-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R2921 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 70499928-70514398 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 70512895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 268 (C268S)
Ref Sequence ENSEMBL: ENSMUSP00000021471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021471]
AlphaFold Q8VBT0
Predicted Effect probably benign
Transcript: ENSMUST00000021471
AA Change: C268S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000021471
Gene: ENSMUSG00000021072
AA Change: C268S

DomainStartEndE-ValueType
low complexity region 7 21 N/A INTRINSIC
Pfam:Thioredoxin 30 130 2e-22 PFAM
transmembrane domain 181 203 N/A INTRINSIC
low complexity region 234 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162277
SMART Domains Protein: ENSMUSP00000123893
Gene: ENSMUSG00000021072

DomainStartEndE-ValueType
Pfam:Thioredoxin 1 71 9.2e-11 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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, and one transmembrane domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The mature membrane-bound protein can both oxidize and reduce disulfide bonds and acts selectively on membrane-associated polypeptides. [provided by RefSeq, Jan 2017]
PHENOTYPE: No notable phenotype was detected in a high-throughput screen of homozygous mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G possibly damaging Het
Adipor1 T C 1: 134,353,731 (GRCm39) V172A possibly damaging Het
Akt2 A G 7: 27,328,411 (GRCm39) K146R probably benign Het
Atg4a T C X: 139,941,768 (GRCm39) V284A possibly damaging Het
Atp6v0a2 C T 5: 124,794,981 (GRCm39) T656M possibly damaging Het
Baz2a AGCGGCGGTACTTGCGGG AG 10: 127,960,946 (GRCm39) probably null Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Ccn5 G A 2: 163,674,266 (GRCm39) R222Q probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dpm3 C T 3: 89,174,062 (GRCm39) L8F probably damaging Het
Fhl3 T C 4: 124,599,463 (GRCm39) S13P probably damaging Het
Fndc1 A G 17: 8,023,707 (GRCm39) S83P probably damaging Het
Gapvd1 A T 2: 34,578,875 (GRCm39) I1249N probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Gm57858 T C 3: 36,080,077 (GRCm39) M227V probably null Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Grm7 T A 6: 111,472,866 (GRCm39) probably null Het
Hdc G A 2: 126,435,910 (GRCm39) P654S probably damaging Het
Hgd T C 16: 37,439,330 (GRCm39) F213L probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Mboat2 T A 12: 25,004,239 (GRCm39) W347R probably damaging Het
Mlkl T C 8: 112,043,079 (GRCm39) E356G probably benign Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nipal3 A T 4: 135,204,776 (GRCm39) I125N probably damaging Het
Nr1h4 A T 10: 89,334,223 (GRCm39) Y42N probably damaging Het
Nup155 A C 15: 8,183,125 (GRCm39) E1228D probably damaging Het
Or4c113 A G 2: 88,884,843 (GRCm39) V309A probably benign Het
Pde4dip T C 3: 97,626,885 (GRCm39) N1218D probably benign Het
Ralgps1 A T 2: 33,033,082 (GRCm39) I449N probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rfx7 G A 9: 72,524,946 (GRCm39) G712D possibly damaging Het
Rnf151 C T 17: 24,935,235 (GRCm39) G232D possibly damaging Het
Rpl22 C A 4: 152,412,002 (GRCm39) T26N possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Safb2 A G 17: 56,875,906 (GRCm39) V89A possibly damaging Het
Setx TGTGG TG 2: 29,044,072 (GRCm39) probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Slc26a2 T A 18: 61,335,007 (GRCm39) I149F probably damaging Het
Slc6a15 A G 10: 103,254,248 (GRCm39) D728G probably damaging Het
Slfn3 A G 11: 83,105,871 (GRCm39) M623V probably benign Het
Smim1 A G 4: 154,108,097 (GRCm39) probably benign Het
Spatc1 T C 15: 76,168,125 (GRCm39) S195P probably damaging Het
Trpc6 A T 9: 8,653,034 (GRCm39) L613F possibly damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zdhhc18 G T 4: 133,360,455 (GRCm39) H82Q probably benign Het
Zfp507 T C 7: 35,494,224 (GRCm39) E273G probably damaging Het
Other mutations in Tmx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Tmx1 APN 12 70,507,251 (GRCm39) critical splice acceptor site probably null
IGL01793:Tmx1 APN 12 70,505,561 (GRCm39) missense probably benign 0.01
R0335:Tmx1 UTSW 12 70,500,030 (GRCm39) missense probably benign
R0454:Tmx1 UTSW 12 70,499,947 (GRCm39) missense possibly damaging 0.85
R2922:Tmx1 UTSW 12 70,512,895 (GRCm39) missense probably benign 0.00
R2923:Tmx1 UTSW 12 70,512,895 (GRCm39) missense probably benign 0.00
R7276:Tmx1 UTSW 12 70,512,917 (GRCm39) missense possibly damaging 0.71
R7293:Tmx1 UTSW 12 70,507,325 (GRCm39) missense probably damaging 0.98
R7339:Tmx1 UTSW 12 70,505,624 (GRCm39) missense probably benign 0.00
R8758:Tmx1 UTSW 12 70,502,788 (GRCm39) missense possibly damaging 0.74
Z1176:Tmx1 UTSW 12 70,499,959 (GRCm39) missense possibly damaging 0.53
Predicted Primers PCR Primer
(F):5'- AGGGCTTTCGAGTCCTTCTG -3'
(R):5'- CTTACTGCTTGGCACCAGGATC -3'

Sequencing Primer
(F):5'- CGAGTCCTTCTGTCGTAATTTTAC -3'
(R):5'- GCTTGGCACCAGGATCTTCTG -3'
Posted On 2014-12-29