Incidental Mutation 'R2923:Tmx1'
ID255634
Institutional Source Beutler Lab
Gene Symbol Tmx1
Ensembl Gene ENSMUSG00000021072
Gene Namethioredoxin-related transmembrane protein 1
SynonymsTxndc1, 2810425A04Rik
MMRRC Submission 040508-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.222) question?
Stock #R2923 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location70453095-70468040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 70466121 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 268 (C268S)
Ref Sequence ENSEMBL: ENSMUSP00000021471 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021471]
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 0.0932 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 A T 12: 81,420,744 C368S probably damaging Het
Adamts3 T C 5: 89,861,534 D90G possibly damaging Het
Astn2 T C 4: 65,913,773 Y500C probably damaging Het
Atp12a A T 14: 56,374,622 T418S probably benign Het
Atp6v0a2 C T 5: 124,717,917 T656M possibly damaging Het
Camsap2 G A 1: 136,280,809 P971S possibly damaging Het
Ccdc116 T C 16: 17,142,443 H170R probably benign Het
Clpb A G 7: 101,722,828 D257G probably benign Het
Cpb2 T C 14: 75,256,033 probably null Het
D430041D05Rik G A 2: 104,255,315 T164I possibly damaging Het
Dhx40 T G 11: 86,789,263 Q416P probably benign Het
Dnah17 A G 11: 118,093,547 F1636S probably damaging Het
Fhl3 T C 4: 124,705,670 S13P probably damaging Het
Gapvd1 A T 2: 34,688,863 I1249N probably damaging Het
Gm10604 C T 4: 11,980,122 A61T unknown Het
Gm20939 T A 17: 94,877,293 H456Q probably damaging Het
Golga4 T A 9: 118,559,343 S1844R possibly damaging Het
Grm6 G C 11: 50,864,521 G827R probably damaging Het
Grm7 T A 6: 111,495,905 probably null Het
Hdc G A 2: 126,593,990 P654S probably damaging Het
Hoxb1 T C 11: 96,366,293 L156P probably benign Het
Ipo9 G T 1: 135,400,129 Q515K probably benign Het
Kcnk3 T C 5: 30,622,070 S155P probably damaging Het
Mboat2 T A 12: 24,954,240 W347R probably damaging Het
Mib1 C T 18: 10,760,831 Q374* probably null Het
Ncor2 A G 5: 125,055,791 F44S probably damaging Het
Nipal3 A T 4: 135,477,465 I125N probably damaging Het
Olfr1218 A G 2: 89,054,499 V309A probably benign Het
Olfr644 A G 7: 104,068,587 V148A probably benign Het
Ovch2 A G 7: 107,790,389 L317P possibly damaging Het
Pnpla2 T A 7: 141,455,467 C61S probably benign Het
Ppp1r16b G T 2: 158,756,957 L312F probably damaging Het
Rdm1 T A 11: 101,630,890 L157H possibly damaging Het
Rpl22 C A 4: 152,327,545 T26N possibly damaging Het
Rptn A G 3: 93,398,708 Y1116C possibly damaging Het
Serpinb5 G A 1: 106,876,040 S152N probably benign Het
Setx GTGGCT GT 2: 29,154,061 probably null Het
St8sia1 A T 6: 142,829,237 F205L probably damaging Het
Stab2 A G 10: 86,861,461 Y1988H probably damaging Het
Susd3 A T 13: 49,248,469 M1K probably null Het
Syne3 A T 12: 104,968,084 L55Q probably damaging Het
Tmem2 A G 19: 21,817,939 D732G possibly damaging Het
Ttll1 T C 15: 83,492,559 K321R probably damaging Het
Wisp2 G A 2: 163,832,346 R222Q probably benign Het
Zdhhc18 G T 4: 133,633,144 H82Q probably benign Het
Zhx1 T C 15: 58,053,681 I390V probably damaging Het
Other mutations in Tmx1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Tmx1 APN 12 70460477 critical splice acceptor site probably null
IGL01793:Tmx1 APN 12 70458787 missense probably benign 0.01
R0335:Tmx1 UTSW 12 70453256 missense probably benign
R0454:Tmx1 UTSW 12 70453173 missense possibly damaging 0.85
R2921:Tmx1 UTSW 12 70466121 missense probably benign 0.00
R2922:Tmx1 UTSW 12 70466121 missense probably benign 0.00
R7276:Tmx1 UTSW 12 70466143 missense possibly damaging 0.71
R7293:Tmx1 UTSW 12 70460551 missense probably damaging 0.98
R7339:Tmx1 UTSW 12 70458850 missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- AGGGCTTTCGAGTCCTTCTGTC -3'
(R):5'- TGCTTGGCACCAGGATCTTC -3'

Sequencing Primer
(F):5'- CGAGTCCTTCTGTCGTAATTTTAC -3'
(R):5'- GTCATAGTTCAGCTCGCA -3'
Posted On2014-12-29