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, D2Bwg1356e, 4930500L08Rik
MMRRC Submission 045793-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.062) question?
Stock # R7737 (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 A at 134481588 bp (GRCm39)
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

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: ENSMUST00000110119
AA Change: M112L

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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
Adamts18 A T 8: 114,463,566 (GRCm39) probably null Het
Akap3 T A 6: 126,851,065 (GRCm39) M861K probably damaging Het
Ankrd42 T C 7: 92,254,470 (GRCm39) T380A possibly damaging Het
Arhgef5 A G 6: 43,250,728 (GRCm39) E493G possibly damaging Het
Arvcf G A 16: 18,214,966 (GRCm39) R119Q probably damaging Het
Asmt T C X: 169,110,175 (GRCm39) F228S probably damaging Het
Atp2c2 T A 8: 120,469,134 (GRCm39) V349E probably damaging Het
BC034090 A G 1: 155,117,419 (GRCm39) V233A possibly damaging Het
Brinp3 G T 1: 146,558,332 (GRCm39) K85N probably damaging Het
Ccr6 G A 17: 8,463,926 (GRCm39) probably benign Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Ddb1 C T 19: 10,603,338 (GRCm39) A882V possibly damaging Het
Epha4 C T 1: 77,357,649 (GRCm39) G783D probably damaging Het
Ephb1 T A 9: 101,861,302 (GRCm39) I621F probably damaging Het
Fbxw18 G T 9: 109,530,331 (GRCm39) Y93* probably null Het
Fcgbpl1 T A 7: 27,856,498 (GRCm39) V2095E probably damaging Het
Gak A C 5: 108,764,874 (GRCm39) L84R probably benign Het
Gm5458 A T 14: 19,649,805 (GRCm39) probably null Het
Gpatch3 C G 4: 133,302,407 (GRCm39) Q113E probably benign Het
Gpld1 C A 13: 25,159,709 (GRCm39) L426M probably damaging Het
Ighmbp2 G A 19: 3,324,467 (GRCm39) P234S unknown Het
Itga6 G A 2: 71,652,787 (GRCm39) V217I probably benign Het
Kdm7a A T 6: 39,121,338 (GRCm39) N872K probably benign Het
Klhl14 G T 18: 21,691,191 (GRCm39) Y446* probably null Het
Larp4b T A 13: 9,220,679 (GRCm39) probably null Het
Lct A T 1: 128,226,430 (GRCm39) W1320R probably benign Het
Lrp2 T C 2: 69,326,782 (GRCm39) D1763G possibly damaging Het
Lrrk2 A T 15: 91,699,649 (GRCm39) N2499Y probably damaging Het
Lsg1 T C 16: 30,400,003 (GRCm39) probably null Het
Mettl15 T C 2: 108,967,723 (GRCm39) K188E probably damaging Het
Mfsd4b1 A G 10: 39,879,274 (GRCm39) S208P probably damaging Het
Mlxipl T C 5: 135,164,235 (GRCm39) S793P possibly damaging Het
Ms4a14 G A 19: 11,280,150 (GRCm39) Q803* probably null Het
Mtor A C 4: 148,623,195 (GRCm39) E2015A possibly damaging Het
Myo15b A T 11: 115,778,749 (GRCm39) Y2581F unknown Het
Myo7b A T 18: 32,147,257 (GRCm39) Y95* probably null Het
Nf1 A G 11: 79,436,314 (GRCm39) I1985V probably benign Het
Noxred1 G A 12: 87,268,136 (GRCm39) Q332* probably null Het
Nudt21 A T 8: 94,749,461 (GRCm39) Y202N probably damaging Het
Odad2 A G 18: 7,217,890 (GRCm39) L608P probably damaging Het
Or1j16 A T 2: 36,530,632 (GRCm39) I194F probably benign Het
Pik3c2a A T 7: 115,955,488 (GRCm39) S1176T probably damaging Het
Pramel14 A C 4: 143,718,526 (GRCm39) S306A possibly damaging Het
Qrich2 GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG 11: 116,348,367 (GRCm39) probably benign Het
Rbmxl1 A G 8: 79,232,252 (GRCm39) S364P unknown Het
Rnf24 T A 2: 131,145,416 (GRCm39) K131N probably benign Het
Scai T A 2: 39,013,034 (GRCm39) Q132L probably damaging Het
Sh3tc1 T C 5: 35,881,297 (GRCm39) R49G probably benign Het
Slc12a7 A G 13: 73,936,796 (GRCm39) E152G probably benign Het
Slc22a27 A T 19: 7,874,127 (GRCm39) M316K probably damaging Het
Spag1 G T 15: 36,210,856 (GRCm39) A427S probably benign Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Stk16 G T 1: 75,187,995 (GRCm39) C8F probably damaging Het
Syne2 T C 12: 75,989,622 (GRCm39) C1834R probably damaging Het
Tie1 C T 4: 118,336,054 (GRCm39) probably null Het
Timp2 A G 11: 118,194,721 (GRCm39) I156T probably damaging Het
Tmem163 A G 1: 127,419,347 (GRCm39) M286T possibly damaging Het
Trank1 G T 9: 111,195,080 (GRCm39) E1035* probably null Het
Trim5 C T 7: 103,928,771 (GRCm39) V57M probably damaging Het
Ubr3 A G 2: 69,821,910 (GRCm39) S1391G probably benign Het
Vmn1r72 A T 7: 11,403,634 (GRCm39) S271R probably damaging Het
Xpo5 G A 17: 46,547,016 (GRCm39) probably null Het
Zfp592 A T 7: 80,674,941 (GRCm39) H635L probably damaging Het
Zfp791 A T 8: 85,838,844 (GRCm39) N62K probably benign Het
Zfp998 A G 13: 66,581,738 (GRCm39) probably null Het
Zmynd11 G A 13: 9,745,175 (GRCm39) T248M 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
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
Predicted Primers PCR Primer
(F):5'- GCTCAAGCTTAACTTCACAAATGG -3'
(R):5'- TATGCTCCATGGTGTCCATC -3'

Sequencing Primer
(F):5'- GCTTCCAGTTTATAGAAAGCGG -3'
(R):5'- ATGGTGTCCATCCTGCCAG -3'
Posted On 2019-11-26