Incidental Mutation 'IGL01395:Tmx1'
ID 79416
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmx1
Ensembl Gene ENSMUSG00000021072
Gene Name thioredoxin-related transmembrane protein 1
Synonyms Txndc1, 2810425A04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.183) question?
Stock # IGL01395
Quality Score
Status
Chromosome 12
Chromosomal Location 70499928-70514398 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 70507251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000021471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021471]
AlphaFold Q8VBT0
Predicted Effect probably null
Transcript: ENSMUST00000021471
SMART Domains Protein: ENSMUSP00000021471
Gene: ENSMUSG00000021072

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 noncoding transcript
Transcript: ENSMUST00000160865
Predicted Effect probably benign
Transcript: ENSMUST00000162277
SMART Domains Protein: ENSMUSP00000123893
Gene: ENSMUSG00000021072

DomainStartEndE-ValueType
Pfam:Thioredoxin 1 71 9.2e-11 PFAM
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, 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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 C T 18: 67,575,880 (GRCm39) R52H probably benign Het
Alg8 T A 7: 97,027,383 (GRCm39) Y84N possibly damaging Het
B3gnt4 T A 5: 123,649,131 (GRCm39) F165L probably damaging Het
Calcrl T C 2: 84,198,919 (GRCm39) I157V probably benign Het
Clpx T C 9: 65,209,133 (GRCm39) S83P probably benign Het
Col7a1 G A 9: 108,812,980 (GRCm39) probably benign Het
Cttn A G 7: 144,011,464 (GRCm39) V115A probably damaging Het
Dcaf1 G A 9: 106,735,361 (GRCm39) V770I possibly damaging Het
Ddx19a A G 8: 111,717,164 (GRCm39) probably benign Het
Dennd6a T A 14: 26,338,056 (GRCm39) Y175* probably null Het
Dhx58 C T 11: 100,594,752 (GRCm39) G48D probably damaging Het
Dnah8 T A 17: 30,854,979 (GRCm39) F178I probably benign Het
Eif5b T C 1: 38,076,339 (GRCm39) I629T probably damaging Het
Frrs1 A G 3: 116,694,654 (GRCm39) I492V probably benign Het
Gm16505 G A 13: 3,411,242 (GRCm39) noncoding transcript Het
Golga4 G A 9: 118,364,441 (GRCm39) G259D probably damaging Het
Gpatch8 T C 11: 102,371,534 (GRCm39) H668R unknown Het
Gucy2c G T 6: 136,675,027 (GRCm39) Q1019K probably damaging Het
Hivep2 T C 10: 14,008,544 (GRCm39) probably null Het
Jph2 T C 2: 163,181,847 (GRCm39) N439S probably benign Het
Knl1 T A 2: 118,902,047 (GRCm39) D1249E probably damaging Het
Lrrc37a A G 11: 103,394,687 (GRCm39) V246A probably benign Het
Mast1 T C 8: 85,639,444 (GRCm39) D1295G possibly damaging Het
Mical2 T A 7: 111,922,792 (GRCm39) M599K probably damaging Het
Nr3c2 T C 8: 77,635,477 (GRCm39) S193P possibly damaging Het
Nr4a2 T A 2: 57,002,165 (GRCm39) Q33L probably damaging Het
Nrap A T 19: 56,350,225 (GRCm39) M514K probably damaging Het
Or1d2 T C 11: 74,255,713 (GRCm39) F73L probably damaging Het
Or5ac16 T A 16: 59,022,460 (GRCm39) T110S possibly damaging Het
Or9i2 A T 19: 13,816,316 (GRCm39) S74T probably damaging Het
Pde5a T C 3: 122,611,604 (GRCm39) I514T probably benign Het
Plxna4 A G 6: 32,216,368 (GRCm39) V569A probably damaging Het
Ppm1k T C 6: 57,490,943 (GRCm39) H324R probably benign Het
Prdm5 A G 6: 65,847,374 (GRCm39) H155R possibly damaging Het
Prpf19 C T 19: 10,878,375 (GRCm39) T287I probably damaging Het
Prpf8 C A 11: 75,385,121 (GRCm39) A794D possibly damaging Het
Pygb C A 2: 150,643,503 (GRCm39) Q97K probably benign Het
Rab27b T C 18: 70,118,288 (GRCm39) K210E probably benign Het
Rttn T G 18: 89,147,894 (GRCm39) N2182K possibly damaging Het
Rusc1 T C 3: 88,999,728 (GRCm39) Q18R probably damaging Het
Stat4 C T 1: 52,051,033 (GRCm39) R31W probably damaging Het
Tas2r135 T A 6: 42,382,846 (GRCm39) C128* probably null Het
Tm9sf3 T C 19: 41,244,715 (GRCm39) E54G probably damaging Het
Tnrc6c T A 11: 117,613,939 (GRCm39) V859E probably benign Het
Uggt1 T C 1: 36,194,158 (GRCm39) D1360G probably damaging Het
Other mutations in Tmx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05