Incidental Mutation 'R8473:Tmx4'
ID 657111
Institutional Source Beutler Lab
Gene Symbol Tmx4
Ensembl Gene ENSMUSG00000034723
Gene Name thioredoxin-related transmembrane protein 4
Synonyms 2810417D04Rik, Txndc13, D2Bwg1356e, 4930500L08Rik
MMRRC Submission 067917-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R8473 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 134436421-134486041 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 134451444 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 170 (T170A)
Ref Sequence ENSEMBL: ENSMUSP00000105747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038228] [ENSMUST00000110120]
AlphaFold Q8C0L0
Predicted Effect probably benign
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 benign
Transcript: ENSMUST00000110120
AA Change: T170A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723
AA Change: T170A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 34 134 4.2e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (33/33)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930583I09Rik T C 17: 65,141,513 (GRCm39) D30G unknown Het
Acad12 T C 5: 121,745,538 (GRCm39) D251G probably damaging Het
Adamts15 T A 9: 30,816,085 (GRCm39) T625S probably damaging Het
Atg13 A T 2: 91,518,993 (GRCm39) L151M probably damaging Het
Atp5f1a T C 18: 77,867,625 (GRCm39) F250L probably damaging Het
Blnk T C 19: 40,940,854 (GRCm39) E183G possibly damaging Het
Csf3 T C 11: 98,592,928 (GRCm39) L97P probably damaging Het
Derl2 A G 11: 70,910,035 (GRCm39) Y10H probably damaging Het
Dgkb A G 12: 38,234,939 (GRCm39) N435D probably damaging Het
Dpy19l2 C A 9: 24,492,526 (GRCm39) V691L probably benign Het
Exoc5 T C 14: 49,256,860 (GRCm39) S509G probably null Het
Fancg A G 4: 43,004,963 (GRCm39) I410T probably damaging Het
Fsip2 G A 2: 82,777,336 (GRCm39) G121D probably damaging Het
Gfm1 T C 3: 67,361,051 (GRCm39) S458P possibly damaging Het
Gm6882 A T 7: 21,161,440 (GRCm39) Y143N probably damaging Het
Grm5 T A 7: 87,252,278 (GRCm39) M176K probably damaging Het
Herc6 T A 6: 57,624,099 (GRCm39) V623D probably damaging Het
Hmcn1 G T 1: 150,479,551 (GRCm39) P4638T possibly damaging Het
Il27ra A G 8: 84,768,735 (GRCm39) Y62H probably benign Het
Kcnh8 A T 17: 53,285,320 (GRCm39) S1097C probably benign Het
Kif19a T G 11: 114,678,377 (GRCm39) S677A probably damaging Het
Lrrc37 T C 11: 103,434,266 (GRCm39) T792A unknown Het
Or8d4 T C 9: 40,038,506 (GRCm39) I250M probably benign Het
Pcdhgb7 T A 18: 37,886,852 (GRCm39) V674D probably benign Het
Pik3r6 A G 11: 68,417,207 (GRCm39) S50G probably benign Het
Ptpn12 T C 5: 21,203,357 (GRCm39) T474A probably benign Het
Rbbp6 T C 7: 122,600,421 (GRCm39) probably benign Het
Scaper T C 9: 55,458,131 (GRCm39) Y880C probably damaging Het
Smc5 A T 19: 23,221,446 (GRCm39) V361D probably benign Het
Stag1 T A 9: 100,762,840 (GRCm39) H480Q probably damaging Het
Tdpoz2 T C 3: 93,559,153 (GRCm39) E273G probably damaging Het
Tdpoz3 T A 3: 93,733,870 (GRCm39) W182R possibly damaging Het
Vmn1r59 A T 7: 5,457,064 (GRCm39) M232K possibly damaging Het
Wdr20rt A G 12: 65,273,380 (GRCm39) D180G probably damaging Het
Other mutations in Tmx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0033:Tmx4 UTSW 2 134,442,918 (GRCm39) splice site probably null
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
R9647:Tmx4 UTSW 2 134,481,588 (GRCm39) missense probably benign 0.00
Z1177:Tmx4 UTSW 2 134,440,571 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGGTCTGATATAGCTTCCATG -3'
(R):5'- GTAATGAACAGGTAACGCTAACC -3'

Sequencing Primer
(F):5'- GGCTTAAGAATTGTTAAAGTGC -3'
(R):5'- CAGGTAACGCTAACCTTTTTGAG -3'
Posted On 2021-01-18