Incidental Mutation 'R7737:Tmx4'
ID 596307
Institutional Source Beutler Lab
Gene Symbol Tmx4
Ensembl Gene ENSMUSG00000034723
Gene Name thioredoxin-related transmembrane protein 4
Synonyms 2810417D04Rik, Txndc13, 4930500L08Rik, D2Bwg1356e
MMRRC Submission 045793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.066) question?
Stock # R7737 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 134594185-134644145 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 134639668 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 112 (M112L)
Ref Sequence ENSEMBL: ENSMUSP00000105746 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038228] [ENSMUST00000110119] [ENSMUST00000110120]
AlphaFold Q8C0L0
Predicted Effect probably benign
Transcript: ENSMUST00000038228
SMART Domains Protein: ENSMUSP00000045154
Gene: ENSMUSG00000034723

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: ENSMUST00000110119
AA Change: M112L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105746
Gene: ENSMUSG00000034723
AA Change: M112L

signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 34 100 5.6e-11 PFAM
transmembrane domain 132 154 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110120
SMART Domains Protein: ENSMUSP00000105747
Gene: ENSMUSG00000034723

signal peptide 1 20 N/A INTRINSIC
Pfam:Thioredoxin 34 134 4.2e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410141K09Rik A G 13: 66,433,677 (GRCm38) probably null Het
9530053A07Rik T A 7: 28,157,073 (GRCm38) V2095E probably damaging Het
Adamts18 A T 8: 113,736,934 (GRCm38) probably null Het
Akap3 T A 6: 126,874,102 (GRCm38) M861K probably damaging Het
Ankrd42 T C 7: 92,605,262 (GRCm38) T380A possibly damaging Het
Arhgef5 A G 6: 43,273,794 (GRCm38) E493G possibly damaging Het
Armc4 A G 18: 7,217,890 (GRCm38) L608P probably damaging Het
Arvcf G A 16: 18,397,101 (GRCm38) R119Q probably damaging Het
Asmt T C X: 170,676,440 (GRCm38) F228S probably damaging Het
Atp2c2 T A 8: 119,742,395 (GRCm38) V349E probably damaging Het
BC034090 A G 1: 155,241,673 (GRCm38) V233A possibly damaging Het
Brinp3 G T 1: 146,682,594 (GRCm38) K85N probably damaging Het
Ccr6 G A 17: 8,245,094 (GRCm38) probably benign Het
D7Ertd443e A G 7: 134,270,201 (GRCm38) S644P probably damaging Het
Ddb1 C T 19: 10,625,974 (GRCm38) A882V possibly damaging Het
Epha4 C T 1: 77,381,012 (GRCm38) G783D probably damaging Het
Ephb1 T A 9: 101,984,103 (GRCm38) I621F probably damaging Het
Fbxw18 G T 9: 109,701,263 (GRCm38) Y93* probably null Het
Gak A C 5: 108,617,008 (GRCm38) L84R probably benign Het
Gm21671 AACT A 5: 25,950,851 (GRCm38) probably benign Het
Gm5458 A T 14: 19,599,737 (GRCm38) probably null Het
Gpatch3 C G 4: 133,575,096 (GRCm38) Q113E probably benign Het
Gpld1 C A 13: 24,975,726 (GRCm38) L426M probably damaging Het
Ighmbp2 G A 19: 3,274,467 (GRCm38) P234S unknown Het
Itga6 G A 2: 71,822,443 (GRCm38) V217I probably benign Het
Kdm7a A T 6: 39,144,404 (GRCm38) N872K probably benign Het
Klhl14 G T 18: 21,558,134 (GRCm38) Y446* probably null Het
Larp4b T A 13: 9,170,643 (GRCm38) probably null Het
Lct A T 1: 128,298,693 (GRCm38) W1320R probably benign Het
Lrp2 T C 2: 69,496,438 (GRCm38) D1763G possibly damaging Het
Lrrk2 A T 15: 91,815,446 (GRCm38) N2499Y probably damaging Het
Lsg1 T C 16: 30,581,185 (GRCm38) probably null Het
Mettl15 T C 2: 109,137,378 (GRCm38) K188E probably damaging Het
Mfsd4b1 A G 10: 40,003,278 (GRCm38) S208P probably damaging Het
Mlxipl T C 5: 135,135,381 (GRCm38) S793P possibly damaging Het
Ms4a14 G A 19: 11,302,786 (GRCm38) Q803* probably null Het
Mtor A C 4: 148,538,738 (GRCm38) E2015A possibly damaging Het
Myo15b A T 11: 115,887,923 (GRCm38) Y2581F unknown Het
Myo7b A T 18: 32,014,204 (GRCm38) Y95* probably null Het
Nf1 A G 11: 79,545,488 (GRCm38) I1985V probably benign Het
Noxred1 G A 12: 87,221,362 (GRCm38) Q332* probably null Het
Nudt21 A T 8: 94,022,833 (GRCm38) Y202N probably damaging Het
Olfr345 A T 2: 36,640,620 (GRCm38) I194F probably benign Het
Pik3c2a A T 7: 116,356,253 (GRCm38) S1176T probably damaging Het
Pramef17 A C 4: 143,991,956 (GRCm38) S306A possibly damaging Het
Rbmxl1 A G 8: 78,505,623 (GRCm38) S364P unknown Het
Rnf24 T A 2: 131,303,496 (GRCm38) K131N probably benign Het
Scai T A 2: 39,123,022 (GRCm38) Q132L probably damaging Het
Sh3tc1 T C 5: 35,723,953 (GRCm38) R49G probably benign Het
Slc12a7 A G 13: 73,788,677 (GRCm38) E152G probably benign Het
Slc22a27 A T 19: 7,896,762 (GRCm38) M316K probably damaging Het
Spag1 G T 15: 36,210,710 (GRCm38) A427S probably benign Het
Stk16 G T 1: 75,211,351 (GRCm38) C8F probably damaging Het
Syne2 T C 12: 75,942,848 (GRCm38) C1834R probably damaging Het
Tie1 C T 4: 118,478,857 (GRCm38) probably null Het
Timp2 A G 11: 118,303,895 (GRCm38) I156T probably damaging Het
Tmem163 A G 1: 127,491,610 (GRCm38) M286T possibly damaging Het
Trank1 G T 9: 111,366,012 (GRCm38) E1035* probably null Het
Trim5 C T 7: 104,279,564 (GRCm38) V57M probably damaging Het
Ubr3 A G 2: 69,991,566 (GRCm38) S1391G probably benign Het
Vmn1r72 A T 7: 11,669,707 (GRCm38) S271R probably damaging Het
Xpo5 G A 17: 46,236,090 (GRCm38) probably null Het
Zfp592 A T 7: 81,025,193 (GRCm38) H635L probably damaging Het
Zfp791 A T 8: 85,112,215 (GRCm38) N62K probably benign Het
Zmynd11 G A 13: 9,695,139 (GRCm38) T248M probably damaging Het
Other mutations in Tmx4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0033:Tmx4 UTSW 2 134,600,998 (GRCm38) splice site probably null
R0033:Tmx4 UTSW 2 134,600,998 (GRCm38) splice site probably null
R0124:Tmx4 UTSW 2 134,639,720 (GRCm38) critical splice donor site probably null
R0311:Tmx4 UTSW 2 134,598,526 (GRCm38) makesense probably null
R0844:Tmx4 UTSW 2 134,600,008 (GRCm38) critical splice donor site probably null
R3804:Tmx4 UTSW 2 134,620,577 (GRCm38) missense probably damaging 1.00
R3964:Tmx4 UTSW 2 134,600,061 (GRCm38) missense possibly damaging 0.81
R3966:Tmx4 UTSW 2 134,600,061 (GRCm38) missense possibly damaging 0.81
R4296:Tmx4 UTSW 2 134,598,629 (GRCm38) missense probably benign 0.00
R6011:Tmx4 UTSW 2 134,639,836 (GRCm38) missense probably damaging 1.00
R6241:Tmx4 UTSW 2 134,639,505 (GRCm38) intron probably benign
R6463:Tmx4 UTSW 2 134,620,639 (GRCm38) missense probably damaging 0.98
R6810:Tmx4 UTSW 2 134,620,674 (GRCm38) missense probably damaging 0.98
R6882:Tmx4 UTSW 2 134,644,002 (GRCm38) missense possibly damaging 0.53
R6912:Tmx4 UTSW 2 134,598,799 (GRCm38) missense probably benign 0.06
R7483:Tmx4 UTSW 2 134,639,661 (GRCm38) missense probably benign 0.01
R7545:Tmx4 UTSW 2 134,609,505 (GRCm38) missense possibly damaging 0.89
R7857:Tmx4 UTSW 2 134,639,662 (GRCm38) missense probably benign 0.00
R8177:Tmx4 UTSW 2 134,643,902 (GRCm38) missense probably damaging 1.00
R8266:Tmx4 UTSW 2 134,639,541 (GRCm38) missense unknown
R8473:Tmx4 UTSW 2 134,609,524 (GRCm38) missense probably benign 0.00
R9647:Tmx4 UTSW 2 134,639,668 (GRCm38) missense probably benign 0.00
Z1177:Tmx4 UTSW 2 134,598,651 (GRCm38) missense probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-26