Incidental Mutation 'IGL02297:Txnip'
ID 290211
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnip
Ensembl Gene ENSMUSG00000038393
Gene Name thioredoxin interacting protein
Synonyms mVDUP1, VDUP1, Hyplip1, THIF
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02297
Quality Score
Status
Chromosome 3
Chromosomal Location 96465273-96469173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96465673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 41 (V41A)
Ref Sequence ENSEMBL: ENSMUSP00000102710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049093] [ENSMUST00000074519]
AlphaFold Q8BG60
Predicted Effect probably damaging
Transcript: ENSMUST00000049093
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: V41A

DomainStartEndE-ValueType
Pfam:Arrestin_N 10 152 6.8e-26 PFAM
Arrestin_C 174 301 6.4e-18 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000074519
AA Change: V41A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: V41A

DomainStartEndE-ValueType
Pfam:Arrestin_N 10 153 1.1e-25 PFAM
Arrestin_C 175 302 6.4e-18 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000098839
Predicted Effect noncoding transcript
Transcript: ENSMUST00000107095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128221
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144639
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196871
Coding Region Coverage
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,571,327 (GRCm39) A287V possibly damaging Het
Aqr A G 2: 113,980,962 (GRCm39) I273T probably benign Het
Arid3c T C 4: 41,730,021 (GRCm39) E58G possibly damaging Het
Col5a3 G T 9: 20,683,450 (GRCm39) T1574K unknown Het
Dbh T C 2: 27,067,748 (GRCm39) V457A probably benign Het
Gm12888 T C 4: 121,181,996 (GRCm39) E32G probably damaging Het
Gnaq A G 19: 16,355,615 (GRCm39) D277G probably damaging Het
Il20 G A 1: 130,836,145 (GRCm39) H133Y probably damaging Het
Itpr1 T A 6: 108,316,478 (GRCm39) F58L possibly damaging Het
Lynx1 G T 15: 74,623,491 (GRCm39) Q19K probably benign Het
Lyst G T 13: 13,812,677 (GRCm39) E1030* probably null Het
Matn1 T A 4: 130,679,575 (GRCm39) probably benign Het
Nav2 A T 7: 49,243,977 (GRCm39) N2068I probably damaging Het
Or5b3 C T 19: 13,388,839 (GRCm39) T302I probably benign Het
Or8g30 T C 9: 39,229,999 (GRCm39) I304V possibly damaging Het
Slc25a23 G T 17: 57,360,324 (GRCm39) Q273K probably benign Het
Slco4a1 T G 2: 180,106,282 (GRCm39) C155G probably benign Het
Wnt16 C A 6: 22,297,990 (GRCm39) Y285* probably null Het
Other mutations in Txnip
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R8151:Txnip UTSW 3 96,466,929 (GRCm39) missense possibly damaging 0.94
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
Posted On 2015-04-16