Incidental Mutation 'R5472:Txndc5'
ID 433886
Institutional Source Beutler Lab
Gene Symbol Txndc5
Ensembl Gene ENSMUSG00000038991
Gene Name thioredoxin domain containing 5
Synonyms ERp46, PC-TRP
MMRRC Submission 043033-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5472 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 38684242-38712800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 38697101 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 79 (L79F)
Ref Sequence ENSEMBL: ENSMUSP00000124516 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035988] [ENSMUST00000160653] [ENSMUST00000162075]
AlphaFold Q91W90
Predicted Effect possibly damaging
Transcript: ENSMUST00000035988
AA Change: L173F

PolyPhen 2 Score 0.640 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991
AA Change: L173F

signal peptide 1 33 N/A INTRINSIC
Pfam:Thioredoxin 49 153 5.3e-28 PFAM
low complexity region 156 172 N/A INTRINSIC
Pfam:Thioredoxin 176 279 2.8e-30 PFAM
Pfam:Thioredoxin 308 412 6.2e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160653
AA Change: L100F

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991
AA Change: L100F

Pfam:Thioredoxin 1 80 6.3e-22 PFAM
low complexity region 83 99 N/A INTRINSIC
Pfam:Thioredoxin 103 206 4.2e-31 PFAM
Pfam:Thioredoxin 235 339 3.9e-32 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000162075
AA Change: L79F

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991
AA Change: L79F

Pfam:Thioredoxin 1 59 1.5e-13 PFAM
low complexity region 62 78 N/A INTRINSIC
Pfam:Thioredoxin 82 185 5e-31 PFAM
Pfam:Thioredoxin 214 318 4.6e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225109
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.3%
Validation Efficiency
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 endoplasmic reticulum (ER)-signal sequence, three catalytically active thioredoxin domains and a C-terminal ER-retention sequence. Its expression is induced by hypoxia and its role may be to protect hypoxic cells from apoptosis. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S5 gene. [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ajm1 T C 2: 25,469,714 (GRCm39) T66A probably benign Het
Akap11 T C 14: 78,750,869 (GRCm39) N506S probably benign Het
Brinp3 A T 1: 146,777,197 (GRCm39) H548L possibly damaging Het
Cacna1c A G 6: 118,615,407 (GRCm39) V1328A possibly damaging Het
Carmil1 C T 13: 24,339,454 (GRCm39) V47I probably damaging Het
Cdk2ap2 C A 19: 4,148,048 (GRCm39) T76K probably benign Het
Col16a1 T C 4: 129,986,564 (GRCm39) probably benign Het
Cspg4b A G 13: 113,455,703 (GRCm39) D583G probably benign Het
Cxcr4 C A 1: 128,517,362 (GRCm39) A100S probably damaging Het
Fancl G T 11: 26,419,677 (GRCm39) C305F probably damaging Het
Gcnt2 T C 13: 41,107,055 (GRCm39) V308A probably benign Het
Gm11733 A T 11: 117,375,322 (GRCm39) I24L unknown Het
Gm973 A G 1: 59,667,446 (GRCm39) probably null Het
Heatr5b A T 17: 79,109,089 (GRCm39) F1057I probably damaging Het
Ifi213 A T 1: 173,394,838 (GRCm39) probably null Het
Ighv1-20 A T 12: 114,687,471 (GRCm39) V91E probably damaging Het
Inhba A G 13: 16,201,371 (GRCm39) E311G probably damaging Het
Irx3 G T 8: 92,526,108 (GRCm39) probably null Het
Jag1 C A 2: 136,926,915 (GRCm39) C948F probably damaging Het
Kcna2 T C 3: 107,012,625 (GRCm39) I402T possibly damaging Het
Kcnh8 A T 17: 53,284,844 (GRCm39) Q938L possibly damaging Het
Lrsam1 ACC AC 2: 32,835,870 (GRCm39) probably null Het
Macf1 T C 4: 123,343,854 (GRCm39) T2123A probably benign Het
Mdfic2 A T 6: 98,215,237 (GRCm39) C129S probably damaging Het
Mdh1 A T 11: 21,509,786 (GRCm39) N196K probably benign Het
Msh6 G A 17: 88,291,989 (GRCm39) R248Q possibly damaging Het
Odf2l G T 3: 144,852,627 (GRCm39) R457L probably benign Het
Or6c69c A T 10: 129,910,898 (GRCm39) L206F probably damaging Het
Pphln1 T C 15: 93,386,856 (GRCm39) V318A possibly damaging Het
Ppp1r12a C T 10: 108,075,973 (GRCm39) T267I probably damaging Het
Pramel15 T C 4: 144,103,727 (GRCm39) D133G probably benign Het
Prpf8 A C 11: 75,394,469 (GRCm39) K1801N possibly damaging Het
Raf1 A G 6: 115,603,667 (GRCm39) probably null Het
Rasal3 C A 17: 32,615,643 (GRCm39) L374F probably damaging Het
S1pr3 T A 13: 51,573,683 (GRCm39) V288D probably damaging Het
Setd7 G A 3: 51,428,886 (GRCm39) P315S probably benign Het
Slx4 C T 16: 3,809,404 (GRCm39) A364T probably benign Het
Sp7 G A 15: 102,267,749 (GRCm39) T19I probably benign Het
Tlr9 T A 9: 106,101,512 (GRCm39) C268S probably damaging Het
Tmem117 T A 15: 94,992,394 (GRCm39) D351E possibly damaging Het
Tmem45b T A 9: 31,339,340 (GRCm39) D211V possibly damaging Het
Tns3 A G 11: 8,401,092 (GRCm39) S1069P probably benign Het
Tsnax A G 8: 125,742,501 (GRCm39) I77V probably benign Het
Ube2q1 A G 3: 89,684,548 (GRCm39) E14G probably benign Het
Vmn2r28 C T 7: 5,490,943 (GRCm39) probably null Het
Vwde A T 6: 13,193,117 (GRCm39) D407E probably benign Het
Wdr35 T A 12: 9,066,619 (GRCm39) M749K probably benign Het
Zfp109 A T 7: 23,928,046 (GRCm39) C462* probably null Het
Other mutations in Txndc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:Txndc5 UTSW 13 38,691,929 (GRCm39) missense probably damaging 1.00
R0164:Txndc5 UTSW 13 38,691,929 (GRCm39) missense probably damaging 1.00
R0691:Txndc5 UTSW 13 38,691,872 (GRCm39) missense probably damaging 1.00
R0741:Txndc5 UTSW 13 38,712,236 (GRCm39) missense possibly damaging 0.94
R3810:Txndc5 UTSW 13 38,707,381 (GRCm39) missense probably benign 0.30
R3811:Txndc5 UTSW 13 38,707,381 (GRCm39) missense probably benign 0.30
R3812:Txndc5 UTSW 13 38,707,381 (GRCm39) missense probably benign 0.30
R5009:Txndc5 UTSW 13 38,712,160 (GRCm39) splice site probably null
R6089:Txndc5 UTSW 13 38,707,392 (GRCm39) start codon destroyed probably null 0.70
R6292:Txndc5 UTSW 13 38,712,160 (GRCm39) splice site probably null
R6443:Txndc5 UTSW 13 38,712,179 (GRCm39) missense possibly damaging 0.56
R8442:Txndc5 UTSW 13 38,711,845 (GRCm39) intron probably benign
X0067:Txndc5 UTSW 13 38,707,363 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-10-06