Incidental Mutation 'R2922:Tmx1'
ID 255590
Institutional Source Beutler Lab
Gene Symbol Tmx1
Ensembl Gene ENSMUSG00000021072
Gene Name thioredoxin-related transmembrane protein 1
Synonyms Txndc1, 2810425A04Rik
MMRRC Submission 040507-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.185) question?
Stock # R2922 (G1)
Quality Score 225
Status 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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 100% (43/43)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts3 T C 5: 90,009,393 (GRCm39) D90G 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
Bsn C T 9: 107,985,385 (GRCm39) V2890M unknown Het
Bsn T C 9: 107,992,668 (GRCm39) E1028G probably damaging Het
Ccdc116 T C 16: 16,960,307 (GRCm39) H170R probably benign Het
Cdk11b CAGAAGAAG CAGAAG 4: 155,725,201 (GRCm39) probably benign Het
Cemip2 A G 19: 21,795,303 (GRCm39) D732G possibly damaging Het
Clpb A G 7: 101,372,035 (GRCm39) D257G probably benign Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Dlgap5 A G 14: 47,627,898 (GRCm39) probably null Het
Dmwd T C 7: 18,810,270 (GRCm39) F26L probably damaging Het
Eif5b T C 1: 38,057,100 (GRCm39) probably benign Het
Flii A G 11: 60,609,742 (GRCm39) Y622H probably damaging Het
Gbp7 A T 3: 142,240,333 (GRCm39) E17V probably benign Het
Ghrh T C 2: 157,173,797 (GRCm39) probably null Het
Gm20939 T A 17: 95,184,721 (GRCm39) H456Q probably damaging Het
Golga4 T A 9: 118,388,411 (GRCm39) S1844R possibly damaging Het
Hgd T C 16: 37,439,330 (GRCm39) F213L probably damaging Het
Hoxb1 T C 11: 96,257,119 (GRCm39) L156P probably benign Het
Itga11 A G 9: 62,675,912 (GRCm39) probably benign Het
Kcnn3 T C 3: 89,428,329 (GRCm39) V185A probably damaging Het
Lrriq1 T C 10: 103,050,536 (GRCm39) T739A probably benign Het
Mib1 C T 18: 10,760,831 (GRCm39) Q374* probably null Het
Myh9 A G 15: 77,697,384 (GRCm39) L10P probably damaging Het
Ncor2 A G 5: 125,132,855 (GRCm39) F44S probably damaging Het
Nr3c1 C A 18: 39,620,156 (GRCm39) A44S possibly damaging Het
Or10n1 G A 9: 39,525,060 (GRCm39) V66I probably benign Het
Or51a43 A G 7: 103,717,794 (GRCm39) V148A probably benign Het
Ovch2 A G 7: 107,389,596 (GRCm39) L317P possibly damaging Het
Pcolce2 T A 9: 95,576,767 (GRCm39) L346Q probably damaging Het
Rdm1 T A 11: 101,521,716 (GRCm39) L157H possibly damaging Het
Rptn A G 3: 93,306,015 (GRCm39) Y1116C possibly damaging Het
Scn7a A G 2: 66,530,551 (GRCm39) probably benign Het
Slc24a2 A G 4: 86,909,591 (GRCm39) V660A possibly damaging Het
Tet3 A G 6: 83,345,494 (GRCm39) S1648P probably damaging Het
Tmem198b G A 10: 128,638,062 (GRCm39) T167I probably damaging Het
Ubr4 A G 4: 139,206,811 (GRCm39) N4886S possibly damaging Het
Usp47 A G 7: 111,692,405 (GRCm39) S956G probably damaging Het
Vmn2r60 T A 7: 41,790,459 (GRCm39) V482E probably damaging Het
Zfhx4 C T 3: 5,468,724 (GRCm39) P2986S probably damaging 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
R2921: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'- TGCTTGGCACCAGGATCTTC -3'

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