Incidental Mutation 'R6292:Txndc5'
Institutional Source Beutler Lab
Gene Symbol Txndc5
Ensembl Gene ENSMUSG00000038991
Gene Namethioredoxin domain containing 5
SynonymsPC-TRP, ERp46
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6292 (G1)
Quality Score178.009
Status Validated
Chromosomal Location38500079-38528824 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 38528184 bp
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124401 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035988] [ENSMUST00000160653] [ENSMUST00000162075]
Predicted Effect probably null
Transcript: ENSMUST00000035988
SMART Domains Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991

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 null
Transcript: ENSMUST00000160653
SMART Domains Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991

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 probably benign
Transcript: ENSMUST00000162075
SMART Domains Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991

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: ENSMUST00000224471
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.5%
Validation Efficiency 100% (50/50)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb T A 5: 114,200,251 V709E probably damaging Het
Ankrd33b C T 15: 31,325,085 probably null Het
Apaf1 T C 10: 90,991,563 T1202A possibly damaging Het
Apip G T 2: 103,092,467 C210F probably benign Het
Chd9 A T 8: 90,932,922 H170L probably benign Het
Clec16a T C 16: 10,560,151 probably null Het
Ep300 T A 15: 81,616,734 probably benign Het
Etl4 C T 2: 20,743,573 H39Y probably damaging Het
Gdap1l1 A T 2: 163,451,507 I218F probably damaging Het
Gm5141 A T 13: 62,774,438 C306S probably damaging Het
Gm9961 C T 16: 11,930,472 noncoding transcript Het
Gpr27 C T 6: 99,693,658 S327L possibly damaging Het
Hectd3 A C 4: 116,998,808 T435P probably damaging Het
Hs3st1 T A 5: 39,614,790 Q170L possibly damaging Het
Hykk T C 9: 54,920,826 probably null Het
Lilra5 T C 7: 4,238,339 S92P possibly damaging Het
Lrig1 A T 6: 94,616,445 N418K probably damaging Het
Miga1 A G 3: 152,317,719 F232L probably benign Het
Mkrn2 T A 6: 115,613,334 M217K probably damaging Het
Myh7b A T 2: 155,632,396 Q1677L probably damaging Het
N4bp1 T C 8: 86,853,239 E645G probably damaging Het
Nckap5 T C 1: 125,915,015 K1752E probably damaging Het
Nek1 A G 8: 61,054,736 probably null Het
Ntng1 T C 3: 110,143,886 probably benign Het
Nup133 A G 8: 123,917,437 V730A probably benign Het
Olfr314 T A 11: 58,786,237 M1K probably null Het
Olfr620 T A 7: 103,612,179 H58L probably damaging Het
Paqr6 C T 3: 88,367,898 P213S probably damaging Het
Pign A T 1: 105,585,077 V627D possibly damaging Het
Rasal1 T A 5: 120,659,620 V139E probably damaging Het
Scgb1b24 G T 7: 33,744,152 A79S possibly damaging Het
Slc25a28 T C 19: 43,664,592 D210G probably benign Het
Slc38a3 A T 9: 107,655,154 I393N possibly damaging Het
Slc41a2 T C 10: 83,254,926 N465D probably damaging Het
Slc5a5 G A 8: 70,891,178 T160I probably damaging Het
Smarca2 C T 19: 26,630,892 A117V probably damaging Het
Sorcs2 C T 5: 36,062,587 R371H probably damaging Het
Taf4 A G 2: 179,923,987 S872P probably damaging Het
Tdrd3 G T 14: 87,506,254 C540F probably benign Het
Thumpd1 A T 7: 119,720,674 L23Q probably benign Het
Top1 A T 2: 160,698,141 Y213F probably benign Het
Unc79 C A 12: 103,142,732 A2005D possibly damaging Het
Upb1 T C 10: 75,438,171 L344P probably damaging Het
Vmn1r72 T A 7: 11,669,652 S290C probably benign Het
Vmn2r103 A G 17: 19,793,604 I219M possibly damaging Het
Wapl A G 14: 34,729,195 T729A probably damaging Het
Washc5 C T 15: 59,355,934 R393H probably damaging Het
Other mutations in Txndc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0164:Txndc5 UTSW 13 38507953 missense probably damaging 1.00
R0164:Txndc5 UTSW 13 38507953 missense probably damaging 1.00
R0691:Txndc5 UTSW 13 38507896 missense probably damaging 1.00
R0741:Txndc5 UTSW 13 38528260 missense possibly damaging 0.94
R3810:Txndc5 UTSW 13 38523405 missense probably benign 0.30
R3811:Txndc5 UTSW 13 38523405 missense probably benign 0.30
R3812:Txndc5 UTSW 13 38523405 missense probably benign 0.30
R5009:Txndc5 UTSW 13 38528184 splice site probably null
R5472:Txndc5 UTSW 13 38513125 missense possibly damaging 0.65
R6089:Txndc5 UTSW 13 38523416 start codon destroyed probably null 0.70
R6443:Txndc5 UTSW 13 38528203 missense possibly damaging 0.56
R8442:Txndc5 UTSW 13 38527869 intron probably benign
X0067:Txndc5 UTSW 13 38523387 missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On2018-08-17