Incidental Mutation 'R8151:Txnip'
ID 632943
Institutional Source Beutler Lab
Gene Symbol Txnip
Ensembl Gene ENSMUSG00000038393
Gene Name thioredoxin interacting protein
Synonyms mVDUP1, VDUP1, Hyplip1, THIF
MMRRC Submission 067577-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8151 (G1)
Quality Score 211.009
Status Not validated
Chromosome 3
Chromosomal Location 96465273-96469173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 96466929 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 201 (D201G)
Ref Sequence ENSEMBL: ENSMUSP00000102710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049093] [ENSMUST00000074519]
AlphaFold Q8BG60
Predicted Effect possibly damaging
Transcript: ENSMUST00000049093
AA Change: D200G

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: D200G

DomainStartEndE-ValueType
Pfam:Arrestin_N 10 152 6.8e-26 PFAM
Arrestin_C 174 301 6.4e-18 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000074519
AA Change: D201G

PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: D201G

DomainStartEndE-ValueType
Pfam:Arrestin_N 10 153 1.1e-25 PFAM
Arrestin_C 175 302 6.4e-18 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.6%
  • 10x: 98.5%
  • 20x: 93.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which protects cells from oxidative stress. This protein inhibits the antioxidative function of thioredoxin resulting in the accumulation of reactive oxygen species and cellular stress. This protein also functions as a regulator of cellular metabolism and of endoplasmic reticulum (ER) stress. This protein may also function as a tumor suppressor. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous null mice display impaired natural killer cell development and activity, hyperplasia of lymphoid tissue in the ileum, and increased T cell proliferation. Lipid metabolism and blood clotting were also affected by another null mutation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T C 19: 8,982,043 (GRCm39) I1109T possibly damaging Het
Aipl1 C A 11: 71,927,584 (GRCm39) D44Y probably benign Het
Aldh8a1 C T 10: 21,271,465 (GRCm39) T397M probably damaging Het
Btbd16 T C 7: 130,398,825 (GRCm39) S278P probably damaging Het
Ccdc110 G A 8: 46,395,830 (GRCm39) E574K probably damaging Het
Cd19 T A 7: 126,013,478 (GRCm39) K104* probably null Het
Cenpe A G 3: 134,952,783 (GRCm39) E1491G probably benign Het
Col12a1 A T 9: 79,537,831 (GRCm39) S2546T possibly damaging Het
Col18a1 T C 10: 76,948,418 (GRCm39) T365A unknown Het
Ctif G T 18: 75,653,176 (GRCm39) D360E probably benign Het
Fat4 G A 3: 38,946,203 (GRCm39) E1699K probably damaging Het
Fbxo39 G A 11: 72,208,526 (GRCm39) V293M probably damaging Het
Fcgbpl1 T C 7: 27,852,766 (GRCm39) I1351T possibly damaging Het
Fhip1a A T 3: 85,595,847 (GRCm39) I346N probably damaging Het
Havcr2 A G 11: 46,366,722 (GRCm39) K221E possibly damaging Het
Hdac5 T C 11: 102,097,294 (GRCm39) T209A probably benign Het
Herc1 A G 9: 66,341,073 (GRCm39) Q1730R probably damaging Het
Ifi202b T C 1: 173,804,923 (GRCm39) T10A probably benign Het
Il18rap T C 1: 40,564,428 (GRCm39) S153P probably benign Het
Klk1b21 C T 7: 43,753,787 (GRCm39) R24* probably null Het
Kras ACTTCTTCTTCTTCTTCTTC ACTTCTTCTTCTTCTTC 6: 145,166,360 (GRCm39) probably benign Het
Ldlrad4 A G 18: 68,383,643 (GRCm39) E113G possibly damaging Het
Lhcgr AT ATT 17: 89,049,677 (GRCm39) 615 probably null Het
Macf1 T C 4: 123,291,206 (GRCm39) E3895G possibly damaging Het
Mug1 T C 6: 121,818,117 (GRCm39) S143P probably benign Het
Nudcd2 A T 11: 40,624,529 (GRCm39) probably benign Het
Nup85 A G 11: 115,468,759 (GRCm39) T201A probably benign Het
Odad2 A G 18: 7,127,358 (GRCm39) F952L probably damaging Het
Plppr2 A G 9: 21,852,105 (GRCm39) E64G probably damaging Het
Plvap A G 8: 71,960,625 (GRCm39) S264P probably benign Het
Polm T C 11: 5,787,906 (GRCm39) probably benign Het
Polr2d T A 18: 31,928,365 (GRCm39) H93Q probably damaging Het
Ptprt T C 2: 162,120,005 (GRCm39) E154G probably damaging Het
Rasal2 C A 1: 157,071,154 (GRCm39) G67C probably damaging Het
Sdk2 A G 11: 113,763,683 (GRCm39) V329A possibly damaging Het
Sorl1 A G 9: 41,979,229 (GRCm39) V423A probably damaging Het
Spef2 A G 15: 9,601,598 (GRCm39) S1555P unknown Het
Srgap3 A C 6: 112,793,628 (GRCm39) L116R probably damaging Het
St6galnac3 C T 3: 153,117,217 (GRCm39) V169M probably damaging Het
Stx16 T A 2: 173,935,284 (GRCm39) M206K possibly damaging Het
Ubr4 T C 4: 139,130,112 (GRCm39) V718A probably damaging Het
Vav3 A C 3: 109,416,164 (GRCm39) D261A probably benign Het
Vcam1 A C 3: 115,918,128 (GRCm39) L278V possibly damaging Het
Vta1 C A 10: 14,543,697 (GRCm39) A226S probably damaging Het
Zfp217 G A 2: 169,961,571 (GRCm39) S252F possibly damaging Het
Zfp777 G A 6: 48,006,075 (GRCm39) Q440* probably null Het
Other mutations in Txnip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02297:Txnip APN 3 96,465,673 (GRCm39) missense probably damaging 1.00
IGL02953:Txnip APN 3 96,465,682 (GRCm39) missense probably damaging 0.97
IGL03066:Txnip APN 3 96,466,934 (GRCm39) missense probably damaging 0.97
P0029:Txnip UTSW 3 96,467,679 (GRCm39) splice site probably null
R0336:Txnip UTSW 3 96,467,295 (GRCm39) missense probably benign 0.00
R1604:Txnip UTSW 3 96,466,277 (GRCm39) missense probably benign 0.18
R1988:Txnip UTSW 3 96,467,066 (GRCm39) missense possibly damaging 0.50
R4603:Txnip UTSW 3 96,465,604 (GRCm39) missense probably benign
R4659:Txnip UTSW 3 96,466,743 (GRCm39) missense probably damaging 1.00
R4845:Txnip UTSW 3 96,466,916 (GRCm39) missense probably benign 0.36
R6787:Txnip UTSW 3 96,467,623 (GRCm39) missense probably damaging 1.00
R6992:Txnip UTSW 3 96,466,439 (GRCm39) missense possibly damaging 0.47
R7241:Txnip UTSW 3 96,466,991 (GRCm39) missense probably damaging 1.00
R7488:Txnip UTSW 3 96,467,539 (GRCm39) missense probably benign 0.05
R7663:Txnip UTSW 3 96,467,153 (GRCm39) missense possibly damaging 0.82
R8669:Txnip UTSW 3 96,466,252 (GRCm39) missense probably damaging 1.00
R9582:Txnip UTSW 3 96,465,659 (GRCm39) nonsense probably null
X0050:Txnip UTSW 3 96,467,094 (GRCm39) missense probably damaging 1.00
X0057:Txnip UTSW 3 96,466,281 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGTCAGTCTCTGCTCGAATTG -3'
(R):5'- GATCTTCTGCACTCTGAGGC -3'

Sequencing Primer
(F):5'- GTCTCTGCTCGAATTGACAGAAAAG -3'
(R):5'- GCACTCTGAGGCTCTTGC -3'
Posted On 2020-06-30