Incidental Mutation 'R6089:Txndc5'
ID 484679
Institutional Source Beutler Lab
Gene Symbol Txndc5
Ensembl Gene ENSMUSG00000038991
Gene Name thioredoxin domain containing 5
Synonyms ERp46, PC-TRP
MMRRC Submission 044246-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6089 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 38684242-38712800 bp(-) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) A to T at 38707392 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
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: M95K

PolyPhen 2 Score 0.903 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991
AA Change: M95K

DomainStartEndE-ValueType
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 possibly damaging
Transcript: ENSMUST00000160653
AA Change: M22K

PolyPhen 2 Score 0.840 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991
AA Change: M22K

DomainStartEndE-ValueType
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 null
Transcript: ENSMUST00000162075
AA Change: M1K

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991
AA Change: M1K

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.3%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 A G 1: 125,335,132 (GRCm39) V95A probably damaging Het
Ankrd40 A T 11: 94,224,751 (GRCm39) K53N probably damaging Het
Ash1l C T 3: 88,960,450 (GRCm39) Q2338* probably null Het
Astn2 A G 4: 65,712,810 (GRCm39) F610S probably damaging Het
Baz2a TCTCCTC TCTC 10: 127,950,511 (GRCm39) probably benign Het
Btbd8 C T 5: 107,654,895 (GRCm39) A386V probably damaging Het
Calm4 A T 13: 3,887,874 (GRCm39) probably benign Het
Card10 T C 15: 78,686,614 (GRCm39) T68A probably benign Het
Cars2 A G 8: 11,580,301 (GRCm39) M245T probably damaging Het
Cat C A 2: 103,303,296 (GRCm39) L160F probably null Het
Cers5 G T 15: 99,638,883 (GRCm39) T144K probably benign Het
Cyp3a13 T A 5: 137,908,215 (GRCm39) L211F probably benign Het
Defb4 A T 8: 19,251,321 (GRCm39) R63* probably null Het
Dnah14 G T 1: 181,577,719 (GRCm39) W3012L probably damaging Het
Dusp18 A G 11: 3,847,555 (GRCm39) T182A probably benign Het
Dzip1l C A 9: 99,524,737 (GRCm39) T286K possibly damaging Het
Eif2ak3 A T 6: 70,873,918 (GRCm39) T944S possibly damaging Het
Fbn1 A T 2: 125,163,145 (GRCm39) I2119N possibly damaging Het
Gabbr2 A G 4: 46,846,448 (GRCm39) S154P probably damaging Het
Gm15440 A T 13: 51,845,437 (GRCm39) H107Q unknown Het
Grm2 G A 9: 106,531,090 (GRCm39) P133L probably damaging Het
Gsdme A G 6: 50,228,285 (GRCm39) V61A probably damaging Het
Gtpbp1 A G 15: 79,591,198 (GRCm39) T23A probably benign Het
Helz A T 11: 107,485,963 (GRCm39) probably null Het
Herc1 A C 9: 66,352,814 (GRCm39) H2100P probably damaging Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Ifngr1 T C 10: 19,482,048 (GRCm39) S213P probably benign Het
Itgb7 T C 15: 102,125,721 (GRCm39) D636G probably benign Het
Mre11a G A 9: 14,730,760 (GRCm39) D491N probably benign Het
Muc16 A G 9: 18,554,548 (GRCm39) L3915P unknown Het
Myh1 T A 11: 67,092,993 (GRCm39) probably null Het
Myh1 T G 11: 67,111,613 (GRCm39) probably null Het
Myh7b C T 2: 155,464,409 (GRCm39) T608M probably damaging Het
Myof T C 19: 37,955,508 (GRCm39) K23E probably benign Het
Nacad A G 11: 6,551,331 (GRCm39) V620A probably benign Het
Pbrm1 T C 14: 30,809,542 (GRCm39) Y1121H probably damaging Het
Pcdha9 T C 18: 37,131,551 (GRCm39) F207L probably benign Het
Pcdhb10 T C 18: 37,546,679 (GRCm39) V585A possibly damaging Het
Pigg A T 5: 108,489,788 (GRCm39) M798L probably benign Het
Poc5 G T 13: 96,533,179 (GRCm39) M102I probably damaging Het
Ppp2r3d T A 9: 101,088,835 (GRCm39) Q496L probably benign Het
Ptprf A G 4: 118,068,281 (GRCm39) Y1752H probably damaging Het
Ptpru G C 4: 131,499,941 (GRCm39) S1244R possibly damaging Het
Rnf213 A G 11: 119,307,385 (GRCm39) K682E probably benign Het
Rtp3 T C 9: 110,816,041 (GRCm39) D170G probably benign Het
Sall4 T C 2: 168,597,406 (GRCm39) D478G possibly damaging Het
Scai A T 2: 38,973,566 (GRCm39) Y58* probably null Het
Simc1 G A 13: 54,676,303 (GRCm39) V1007M probably benign Het
Tcf20 G T 15: 82,737,409 (GRCm39) D1347E probably benign Het
Tdo2 T C 3: 81,870,035 (GRCm39) Y279C probably damaging Het
Trdn C T 10: 33,340,571 (GRCm39) P602S probably benign Het
Ubr2 A C 17: 47,293,218 (GRCm39) M356R possibly damaging Het
Uqcrc2 A T 7: 120,253,232 (GRCm39) D332V probably damaging Het
Usp48 T C 4: 137,333,129 (GRCm39) F108L probably damaging Het
Vill A G 9: 118,886,867 (GRCm39) N4S probably benign Het
Vmn1r11 T C 6: 57,114,645 (GRCm39) V103A possibly damaging Het
Vmn2r98 A G 17: 19,286,336 (GRCm39) D278G probably benign Het
Vps35l T G 7: 118,345,658 (GRCm39) S59A possibly damaging Het
Wfdc15a A T 2: 164,041,586 (GRCm39) L79* probably null Het
Xxylt1 C T 16: 30,899,799 (GRCm39) V119M probably damaging Het
Zfp26 G T 9: 20,348,989 (GRCm39) A525D probably damaging Het
Zgrf1 G A 3: 127,389,642 (GRCm39) G396D probably damaging Het
Zkscan16 A G 4: 58,948,889 (GRCm39) D148G possibly damaging Het
Zscan26 G T 13: 21,632,499 (GRCm39) S77R probably damaging 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
R5472:Txndc5 UTSW 13 38,697,101 (GRCm39) missense possibly damaging 0.65
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
(F):5'- TTACATTCAGCGCCTGGGATC -3'
(R):5'- AGAACAGTGTCGTTGTGAGGTATC -3'

Sequencing Primer
(F):5'- CCTGGGATCTAGGAAGGAAGTTACC -3'
(R):5'- AGGTATCTGTCTGCTGCAGAG -3'
Posted On 2017-08-16