Incidental Mutation 'R6463:Tmx4'
ID517667
Institutional Source Beutler Lab
Gene Symbol Tmx4
Ensembl Gene ENSMUSG00000034723
Gene Namethioredoxin-related transmembrane protein 4
Synonyms2810417D04Rik, Txndc13, 4930500L08Rik, D2Bwg1356e
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #R6463 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location134594185-134644145 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 134620639 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 124 (Y124C)
Ref Sequence ENSEMBL: ENSMUSP00000045154 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038228] [ENSMUST00000110120]
Predicted Effect probably damaging
Transcript: ENSMUST00000038228
AA Change: Y124C

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723
AA Change: Y124C

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 possibly damaging
Transcript: ENSMUST00000110120
AA Change: Y124C

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723
AA Change: Y124C

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 34 134 4.2e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137377
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 100% (51/51)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,938 H48L probably damaging Het
Aifm3 A G 16: 17,500,789 I185V probably benign Het
Asb7 A T 7: 66,660,236 D77E probably damaging Het
Cacna1i T C 15: 80,355,758 I336T probably damaging Het
Cadps2 A T 6: 23,323,334 L1016* probably null Het
Ccdc129 A G 6: 55,968,678 R795G probably benign Het
Cep63 C A 9: 102,596,155 M504I probably benign Het
Chpf2 G T 5: 24,589,526 L231F probably damaging Het
Cnot10 T C 9: 114,625,902 Y221C probably damaging Het
Col3a1 G A 1: 45,342,205 probably benign Het
Csl T C 10: 99,759,098 D35G probably damaging Het
Csmd3 T C 15: 47,676,479 Y2286C probably damaging Het
Dbt A G 3: 116,539,760 E293G possibly damaging Het
Ddx31 T A 2: 28,847,513 probably null Het
Dnm1 T C 2: 32,309,591 probably benign Het
Elfn1 A G 5: 139,972,285 Y348C probably damaging Het
Enpp5 G A 17: 44,085,264 G356S probably damaging Het
Epha5 T A 5: 84,106,710 I657F probably damaging Het
Fbp1 A G 13: 62,865,010 F123S possibly damaging Het
Hkdc1 T C 10: 62,393,702 N732S probably damaging Het
Itfg1 A G 8: 85,736,151 S448P probably benign Het
Izumo2 A G 7: 44,709,074 K84R probably benign Het
Kbtbd3 A G 9: 4,316,921 Y24C probably benign Het
Kif1b T C 4: 149,192,596 M1337V probably benign Het
Mdn1 T C 4: 32,773,308 L5489P probably damaging Het
Mettl2 G A 11: 105,132,581 probably null Het
Mtr T C 13: 12,216,866 T651A probably benign Het
Naglu A G 11: 101,077,351 probably null Het
Nkx6-1 G T 5: 101,659,476 H347N probably damaging Het
Ntpcr A G 8: 125,736,104 E20G probably benign Het
Oas2 T C 5: 120,734,981 R670G probably null Het
Olfr1208 T C 2: 88,897,118 I160V probably benign Het
Olfr239 G A 17: 33,199,638 V197I probably benign Het
Olfr698 C G 7: 106,752,801 E196Q probably benign Het
Phldb2 A C 16: 45,774,993 V902G probably benign Het
Rdh7 T C 10: 127,885,781 R209G probably benign Het
Slc13a3 A C 2: 165,445,653 L127R probably damaging Het
Slc6a20b T A 9: 123,604,949 I275F possibly damaging Het
St3gal1 A G 15: 67,111,346 V187A possibly damaging Het
Trh A T 6: 92,242,843 M164K possibly damaging Het
Trhr A G 15: 44,197,585 N167S probably benign Het
Ttll7 G A 3: 146,931,582 R490Q possibly damaging Het
Uck1 T C 2: 32,258,655 N100S probably benign Het
Ucp3 A T 7: 100,480,269 T104S probably benign Het
Vmn2r28 T A 7: 5,486,436 H468L probably benign Het
Xaf1 G A 11: 72,308,638 R67H probably benign Het
Ypel4 T C 2: 84,736,743 probably benign Het
Zfp687 A G 3: 95,010,784 I559T probably damaging Het
Other mutations in Tmx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0033:Tmx4 UTSW 2 134600998 splice site probably null
R0033:Tmx4 UTSW 2 134600998 splice site probably null
R0124:Tmx4 UTSW 2 134639720 critical splice donor site probably null
R0311:Tmx4 UTSW 2 134598526 makesense probably null
R0844:Tmx4 UTSW 2 134600008 critical splice donor site probably null
R3804:Tmx4 UTSW 2 134620577 missense probably damaging 1.00
R3964:Tmx4 UTSW 2 134600061 missense possibly damaging 0.81
R3966:Tmx4 UTSW 2 134600061 missense possibly damaging 0.81
R4296:Tmx4 UTSW 2 134598629 missense probably benign 0.00
R6011:Tmx4 UTSW 2 134639836 missense probably damaging 1.00
R6241:Tmx4 UTSW 2 134639505 intron probably benign
R6810:Tmx4 UTSW 2 134620674 missense probably damaging 0.98
R6882:Tmx4 UTSW 2 134644002 missense possibly damaging 0.53
R6912:Tmx4 UTSW 2 134598799 missense probably benign 0.06
R7483:Tmx4 UTSW 2 134639661 missense probably benign 0.01
R7545:Tmx4 UTSW 2 134609505 missense possibly damaging 0.89
R7737:Tmx4 UTSW 2 134639668 missense probably benign 0.00
R7857:Tmx4 UTSW 2 134639662 missense probably benign 0.00
R8177:Tmx4 UTSW 2 134643902 missense probably damaging 1.00
R8266:Tmx4 UTSW 2 134639541 missense unknown
R8473:Tmx4 UTSW 2 134609524 missense probably benign 0.00
Z1177:Tmx4 UTSW 2 134598651 missense probably benign
Predicted Primers PCR Primer
(F):5'- TGGAAGTACATGTGGGTCAC -3'
(R):5'- ACACATGCCTTCTGGGTTAATG -3'

Sequencing Primer
(F):5'- CAATGCATGGGTCAATCAGTC -3'
(R):5'- AATGTCTGGGTACAGTATTTTCTTC -3'
Posted On2018-05-21