Incidental Mutation 'R0033:Tmx4'
ID 15388
Institutional Source Beutler Lab
Gene Symbol Tmx4
Ensembl Gene ENSMUSG00000034723
Gene Name thioredoxin-related transmembrane protein 4
Synonyms 2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik
MMRRC Submission 038327-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R0033 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 134436421-134486041 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 134442918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038228] [ENSMUST00000038228]
AlphaFold Q8C0L0
Predicted Effect probably null
Transcript: ENSMUST00000038228
SMART Domains Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 34 134 5.9e-14 PFAM
transmembrane domain 185 207 N/A INTRINSIC
low complexity region 241 255 N/A INTRINSIC
low complexity region 258 279 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000038228
SMART Domains Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 34 134 5.9e-14 PFAM
transmembrane domain 185 207 N/A INTRINSIC
low complexity region 241 255 N/A INTRINSIC
low complexity region 258 279 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137377
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 80.0%
  • 3x: 71.7%
  • 10x: 49.2%
  • 20x: 29.7%
Validation Efficiency 96% (74/77)
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 C-terminal ASP/GLU-rich calcium binding domain. Unlike most members of this gene family, it lacks a C-terminal ER-retention sequence. The encoded protein has been shown to have reductase activity in vitro. [provided by RefSeq, Jan 2017]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agr3 C T 12: 35,978,329 (GRCm39) T14M possibly damaging Het
Aldh9a1 T C 1: 167,184,140 (GRCm39) S212P probably damaging Het
Ank2 T A 3: 126,898,397 (GRCm39) probably benign Het
Cdkn3 C A 14: 47,006,329 (GRCm39) Y141* probably null Het
Ceacam12 T G 7: 17,803,385 (GRCm39) probably benign Het
Celf1 T C 2: 90,831,798 (GRCm39) probably benign Het
Col6a3 A G 1: 90,729,967 (GRCm39) S1780P probably damaging Het
Cpxm2 T C 7: 131,663,886 (GRCm39) I346V possibly damaging Het
Csf3r A G 4: 125,925,677 (GRCm39) T151A probably benign Het
Ctss G A 3: 95,452,888 (GRCm39) probably benign Het
Erp44 T C 4: 48,241,289 (GRCm39) probably benign Het
Hibch A G 1: 52,944,610 (GRCm39) K296R probably null Het
Katnip T G 7: 125,360,999 (GRCm39) V103G possibly damaging Het
Kirrel3 A G 9: 34,912,259 (GRCm39) I208V probably benign Het
Lrrc8a G T 2: 30,145,357 (GRCm39) C57F probably damaging Het
Ltbp1 A G 17: 75,583,504 (GRCm39) N435D possibly damaging Het
Myo16 A T 8: 10,420,955 (GRCm39) Y265F probably damaging Het
Nckap5 A G 1: 125,867,979 (GRCm39) probably benign Het
Nlrp12 A C 7: 3,289,037 (GRCm39) S492A probably damaging Het
Pwwp2b A T 7: 138,834,844 (GRCm39) D95V possibly damaging Het
Rarg T A 15: 102,147,270 (GRCm39) I372F probably damaging Het
Snrnp200 T C 2: 127,079,983 (GRCm39) I1920T probably damaging Het
Sv2b A G 7: 74,767,489 (GRCm39) F636L probably benign Het
Thra G A 11: 98,655,178 (GRCm39) V353I probably benign Het
Tm7sf2 A G 19: 6,116,452 (GRCm39) probably benign Het
Tnfrsf12a A G 17: 23,895,119 (GRCm39) probably null Het
Uba5 T A 9: 103,931,347 (GRCm39) T241S probably benign Het
Zfp420 A G 7: 29,573,987 (GRCm39) D69G probably benign Het
Zfp64 A T 2: 168,767,635 (GRCm39) I659N possibly damaging Het
Other mutations in Tmx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0033:Tmx4 UTSW 2 134,442,918 (GRCm39) splice site probably null
R0124:Tmx4 UTSW 2 134,481,640 (GRCm39) critical splice donor site probably null
R0311:Tmx4 UTSW 2 134,440,446 (GRCm39) makesense probably null
R0844:Tmx4 UTSW 2 134,441,928 (GRCm39) critical splice donor site probably null
R3804:Tmx4 UTSW 2 134,462,497 (GRCm39) missense probably damaging 1.00
R3964:Tmx4 UTSW 2 134,441,981 (GRCm39) missense possibly damaging 0.81
R3966:Tmx4 UTSW 2 134,441,981 (GRCm39) missense possibly damaging 0.81
R4296:Tmx4 UTSW 2 134,440,549 (GRCm39) missense probably benign 0.00
R6011:Tmx4 UTSW 2 134,481,756 (GRCm39) missense probably damaging 1.00
R6241:Tmx4 UTSW 2 134,481,425 (GRCm39) intron probably benign
R6463:Tmx4 UTSW 2 134,462,559 (GRCm39) missense probably damaging 0.98
R6810:Tmx4 UTSW 2 134,462,594 (GRCm39) missense probably damaging 0.98
R6882:Tmx4 UTSW 2 134,485,922 (GRCm39) missense possibly damaging 0.53
R6912:Tmx4 UTSW 2 134,440,719 (GRCm39) missense probably benign 0.06
R7483:Tmx4 UTSW 2 134,481,581 (GRCm39) missense probably benign 0.01
R7545:Tmx4 UTSW 2 134,451,425 (GRCm39) missense possibly damaging 0.89
R7737:Tmx4 UTSW 2 134,481,588 (GRCm39) missense probably benign 0.00
R7857:Tmx4 UTSW 2 134,481,582 (GRCm39) missense probably benign 0.00
R8177:Tmx4 UTSW 2 134,485,822 (GRCm39) missense probably damaging 1.00
R8266:Tmx4 UTSW 2 134,481,461 (GRCm39) missense unknown
R8473:Tmx4 UTSW 2 134,451,444 (GRCm39) missense probably benign 0.00
R9647:Tmx4 UTSW 2 134,481,588 (GRCm39) missense probably benign 0.00
Z1177:Tmx4 UTSW 2 134,440,571 (GRCm39) missense probably benign
Posted On 2012-12-17