Incidental Mutation 'R4845:Txnip'
ID 372095
Institutional Source Beutler Lab
Gene Symbol Txnip
Ensembl Gene ENSMUSG00000038393
Gene Name thioredoxin interacting protein
Synonyms mVDUP1, VDUP1, Hyplip1, THIF
MMRRC Submission 042458-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4845 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96465273-96469173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 96466916 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 197 (S197P)
Ref Sequence ENSEMBL: ENSMUSP00000102710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049093] [ENSMUST00000074519]
AlphaFold Q8BG60
Predicted Effect probably benign
Transcript: ENSMUST00000049093
AA Change: S196P

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: S196P

DomainStartEndE-ValueType
Pfam:Arrestin_N 10 152 6.8e-26 PFAM
Arrestin_C 174 301 6.4e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000074519
AA Change: S197P

PolyPhen 2 Score 0.364 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: S197P

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
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg1 C T 17: 31,333,057 (GRCm39) S600F possibly damaging Het
Arhgap21 T A 2: 20,885,998 (GRCm39) N393I probably damaging Het
Atp5pf T A 16: 84,628,365 (GRCm39) I6F possibly damaging Het
B4galt6 A G 18: 20,821,517 (GRCm39) L337S probably benign Het
C8b G T 4: 104,649,009 (GRCm39) V308F possibly damaging Het
Cables1 A G 18: 12,077,545 (GRCm39) R558G probably damaging Het
Chmp2b T A 16: 65,347,862 (GRCm39) Q38L probably damaging Het
Clca3b A T 3: 144,531,031 (GRCm39) I773K probably benign Het
Cnmd T C 14: 79,899,448 (GRCm39) T2A probably benign Het
Crb1 C T 1: 139,170,772 (GRCm39) D812N probably benign Het
Dnah7c T A 1: 46,832,692 (GRCm39) D3901E probably damaging Het
Dst T C 1: 34,232,208 (GRCm39) V3445A probably benign Het
Epn1 T A 7: 5,096,908 (GRCm39) I230N possibly damaging Het
Exoc6b G T 6: 84,812,119 (GRCm39) D627E probably benign Het
Exosc1 T C 19: 41,919,797 (GRCm39) K74E possibly damaging Het
Extl3 T C 14: 65,315,024 (GRCm39) T53A probably benign Het
Fam227a C T 15: 79,533,912 (GRCm39) R17H probably damaging Het
Faxc G T 4: 21,993,358 (GRCm39) W334L probably damaging Het
Gabrr3 T C 16: 59,246,833 (GRCm39) I94T probably damaging Het
Ifi203 A T 1: 173,754,595 (GRCm39) M298K probably benign Het
Igkv4-78 A T 6: 69,037,207 (GRCm39) M1K probably null Het
Iqcm G T 8: 76,472,980 (GRCm39) R273I probably damaging Het
Itga1 G T 13: 115,110,708 (GRCm39) S961* probably null Het
Jmy T A 13: 93,576,246 (GRCm39) M886L possibly damaging Het
Lrp2 T C 2: 69,339,585 (GRCm39) T1109A possibly damaging Het
Mastl A G 2: 23,030,010 (GRCm39) S239P probably benign Het
Mettl14 T A 3: 123,165,004 (GRCm39) E112V probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Musk A G 4: 58,296,679 (GRCm39) D93G probably damaging Het
Myoc C T 1: 162,475,034 (GRCm39) T195M possibly damaging Het
Ncapg2 A G 12: 116,404,208 (GRCm39) D893G probably damaging Het
Nrap C T 19: 56,339,902 (GRCm39) V908M probably benign Het
Or4a79 T C 2: 89,552,120 (GRCm39) I112V probably benign Het
Or52n5 T C 7: 104,588,570 (GRCm39) V279A possibly damaging Het
Or5g9 T A 2: 85,551,836 (GRCm39) L29* probably null Het
Orc4 T C 2: 48,799,478 (GRCm39) N333S probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhb8 G A 18: 37,489,771 (GRCm39) G483D probably benign Het
Pclo A T 5: 14,729,132 (GRCm39) probably benign Het
Ppm1k A T 6: 57,499,753 (GRCm39) Y174* probably null Het
Ptprq A T 10: 107,489,393 (GRCm39) S911T probably benign Het
Rp1 C A 1: 4,419,451 (GRCm39) A554S probably benign Het
Sema3f T C 9: 107,562,700 (GRCm39) Y427C probably damaging Het
Slc12a1 A T 2: 125,030,146 (GRCm39) I573F probably damaging Het
Slc17a1 A T 13: 24,060,601 (GRCm39) Y201F probably damaging Het
Slc4a7 A T 14: 14,733,803 (GRCm38) H71L probably damaging Het
Spata6l G T 19: 28,905,148 (GRCm39) D305E probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Tab1 C T 15: 80,036,964 (GRCm39) R217W probably damaging Het
Taf6 T A 5: 138,180,909 (GRCm39) Y224F possibly damaging Het
Tmc5 C G 7: 118,241,604 (GRCm39) F432L probably damaging Het
Trbc1 A T 6: 41,516,169 (GRCm39) probably benign Het
Trbv21 A G 6: 41,179,879 (GRCm39) N65S probably benign Het
Trim15 G A 17: 37,177,875 (GRCm39) P40L probably benign Het
Vmn1r167 T A 7: 23,204,158 (GRCm39) Q286L probably benign Het
Wnt9a A G 11: 59,222,067 (GRCm39) I322V probably benign Het
Zfp879 T C 11: 50,724,672 (GRCm39) E128G probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TCAGTCTCTGCTCGAATTGAC -3'
(R):5'- CTGATCTTCTGCACTCTGAGG -3'

Sequencing Primer
(F):5'- GTCTCTGCTCGAATTGACAGAAAAG -3'
(R):5'- GCACTCTGAGGCTCTTGC -3'
Posted On 2016-03-01