Incidental Mutation 'R3810:Txndc5'
ID 275171
Institutional Source Beutler Lab
Gene Symbol Txndc5
Ensembl Gene ENSMUSG00000038991
Gene Name thioredoxin domain containing 5
Synonyms ERp46, PC-TRP
MMRRC Submission 040880-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3810 (G1)
Quality Score 202
Status Validated
Chromosome 13
Chromosomal Location 38684242-38712800 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 38707381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 99 (K99E)
Ref Sequence ENSEMBL: ENSMUSP00000041839 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035988] [ENSMUST00000160653] [ENSMUST00000162075]
AlphaFold Q91W90
Predicted Effect probably benign
Transcript: ENSMUST00000035988
AA Change: K99E

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041839
Gene: ENSMUSG00000038991
AA Change: K99E

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 probably benign
Transcript: ENSMUST00000160653
AA Change: K26E

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000124401
Gene: ENSMUSG00000038991
AA Change: K26E

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 benign
Transcript: ENSMUST00000162075
AA Change: K5E

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124516
Gene: ENSMUSG00000038991
AA Change: K5E

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
Meta Mutation Damage Score 0.0896 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
Validation Efficiency 100% (40/40)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd6 T A 14: 8,045,603 (GRCm38) V173D probably benign Het
Agbl3 G T 6: 34,776,664 (GRCm39) S385I probably damaging Het
Ahcyl2 A G 6: 29,891,260 (GRCm39) I455V probably benign Het
Bpifb2 T A 2: 153,733,871 (GRCm39) D404E probably benign Het
Ctbp1 A G 5: 33,424,389 (GRCm39) probably benign Het
D130040H23Rik T A 8: 69,755,022 (GRCm39) C160S probably damaging Het
Dapk1 T C 13: 60,908,503 (GRCm39) W1039R probably damaging Het
Dock6 T C 9: 21,712,873 (GRCm39) K1995E probably damaging Het
Entpd3 A G 9: 120,391,068 (GRCm39) E440G probably benign Het
Gm20939 G A 17: 95,184,138 (GRCm39) R262K possibly damaging Het
Gm9637 A T 14: 19,402,398 (GRCm38) noncoding transcript Het
Gm9847 T C 12: 14,545,148 (GRCm39) noncoding transcript Het
H2-Q6 A G 17: 35,644,757 (GRCm39) E182G probably damaging Het
Has1 T C 17: 18,067,822 (GRCm39) Y356C probably damaging Het
Hivep2 A G 10: 14,006,101 (GRCm39) T900A probably benign Het
Kcnd3 C T 3: 105,566,082 (GRCm39) A421V probably damaging Het
Klhl35 A G 7: 99,119,448 (GRCm39) D311G probably benign Het
Metap2 A T 10: 93,706,026 (GRCm39) L252* probably null Het
Mrgpra9 T A 7: 46,885,527 (GRCm39) I47F probably damaging Het
Muc5b T C 7: 141,417,863 (GRCm39) L3603P possibly damaging Het
Neurl4 A G 11: 69,794,859 (GRCm39) H323R probably damaging Het
Oas1d A T 5: 121,053,049 (GRCm39) I35F probably damaging Het
Or4c124 G A 2: 89,156,098 (GRCm39) T142M probably benign Het
Or4c12b T A 2: 89,647,395 (GRCm39) S242T probably damaging Het
Or5w18 C T 2: 87,633,396 (GRCm39) S221F possibly damaging Het
Or5w19 T A 2: 87,698,745 (GRCm39) S137T probably damaging Het
Orc6 T A 8: 86,026,613 (GRCm39) S19R probably benign Het
Pcdh12 T C 18: 38,414,290 (GRCm39) E945G probably damaging Het
Plekha6 A G 1: 133,201,717 (GRCm39) M377V probably benign Het
Psmd1 T A 1: 86,060,437 (GRCm39) V828D probably damaging Het
Rbbp5 T C 1: 132,420,325 (GRCm39) V59A probably damaging Het
Secisbp2l C T 2: 125,582,657 (GRCm39) G933D possibly damaging Het
Tas2r130 A G 6: 131,607,792 (GRCm39) M1T probably null Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trgv2 T C 13: 19,521,011 (GRCm39) T28A possibly damaging Het
Trpc4ap T A 2: 155,485,355 (GRCm39) I448F probably damaging Het
Ttc21b C T 2: 66,082,577 (GRCm39) probably null Het
Uvrag A G 7: 98,628,919 (GRCm39) Y383H probably damaging Het
Vim T C 2: 13,583,563 (GRCm39) 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
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
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
(F):5'- TACATTCAGCGCCTGGGATC -3'
(R):5'- AGAACAGTGTCGTTGTGAGG -3'

Sequencing Primer
(F):5'- CCTGGGATCTAGGAAGGAAGTTACC -3'
(R):5'- AGGTATCTGTCTGCTGCAGAG -3'
Posted On 2015-04-02