Incidental Mutation 'R1604:Txnip'
ID 176314
Institutional Source Beutler Lab
Gene Symbol Txnip
Ensembl Gene ENSMUSG00000038393
Gene Name thioredoxin interacting protein
Synonyms mVDUP1, VDUP1, Hyplip1, THIF
MMRRC Submission 039641-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1604 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 96465273-96469173 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 96466277 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 107 (Q107L)
Ref Sequence ENSEMBL: ENSMUSP00000041467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049093] [ENSMUST00000074519]
AlphaFold Q8BG60
Predicted Effect probably benign
Transcript: ENSMUST00000049093
AA Change: Q107L

PolyPhen 2 Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: Q107L

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: Q108L

PolyPhen 2 Score 0.104 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: Q108L

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: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.1%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart2 A G 12: 55,612,405 (GRCm39) D110G probably damaging Het
Angptl2 T C 2: 33,133,785 (GRCm39) M369T possibly damaging Het
Anks3 C T 16: 4,766,117 (GRCm39) V151M probably damaging Het
Arl6ip6 T C 2: 53,082,508 (GRCm39) L125P probably damaging Het
Bmp1 T C 14: 70,745,444 (GRCm39) Q247R possibly damaging Het
Ccdc30 A G 4: 119,188,793 (GRCm39) I491T probably damaging Het
Cdhr1 T A 14: 36,817,050 (GRCm39) I104F probably benign Het
Cdk17 G T 10: 93,068,360 (GRCm39) M372I probably damaging Het
Cyp2c54 A G 19: 40,058,787 (GRCm39) V215A probably benign Het
D430041D05Rik T A 2: 104,035,487 (GRCm39) I1614F probably damaging Het
Ddx55 A G 5: 124,697,369 (GRCm39) N244D probably damaging Het
Dop1b G T 16: 93,559,458 (GRCm39) V617F probably benign Het
Erbb4 G T 1: 68,385,728 (GRCm39) A287E possibly damaging Het
Fmnl2 A G 2: 52,995,549 (GRCm39) E424G probably damaging Het
Gad2 T C 2: 22,513,852 (GRCm39) probably null Het
Gm17421 G A 12: 113,333,155 (GRCm39) noncoding transcript Het
Gm9894 T A 13: 67,913,008 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,700 (GRCm39) S193P probably damaging Het
Gpr20 C T 15: 73,567,853 (GRCm39) V179M probably damaging Het
Hdgf T A 3: 87,821,347 (GRCm39) probably null Het
Itgb8 A T 12: 119,166,265 (GRCm39) L89M probably damaging Het
Lnx2 T C 5: 146,966,135 (GRCm39) D328G probably benign Het
Lrguk A G 6: 34,049,305 (GRCm39) T341A possibly damaging Het
Map1b A G 13: 99,566,080 (GRCm39) S2214P unknown Het
Mms22l T C 4: 24,502,804 (GRCm39) F131L probably damaging Het
Msmo1 A G 8: 65,180,689 (GRCm39) I75T probably damaging Het
Or10d1c A T 9: 38,893,914 (GRCm39) M142K probably benign Het
Or2a56 G A 6: 42,932,650 (GRCm39) A73T possibly damaging Het
Or51k1 G T 7: 103,661,162 (GRCm39) A249E probably damaging Het
Or8c13 A G 9: 38,091,645 (GRCm39) V158A probably benign Het
Or8d2 T G 9: 38,760,000 (GRCm39) F197V probably benign Het
Pkhd1l1 C T 15: 44,330,763 (GRCm39) R113* probably null Het
Polr2m T C 9: 71,390,959 (GRCm39) D81G probably damaging Het
Ppp1r15b T A 1: 133,060,287 (GRCm39) M268K probably benign Het
Ptprcap T A 19: 4,206,073 (GRCm39) L52* probably null Het
Rasgrp2 C T 19: 6,457,087 (GRCm39) T277I possibly damaging Het
Rrbp1 T C 2: 143,831,310 (GRCm39) N286D probably damaging Het
Scml2 G T X: 160,014,442 (GRCm39) E566D possibly damaging Het
Scrib A C 15: 75,920,089 (GRCm39) S1557A probably damaging Het
Sergef C A 7: 46,092,783 (GRCm39) V409L probably benign Het
Shisal1 T C 15: 84,290,672 (GRCm39) M212V probably benign Het
Slc6a13 A G 6: 121,309,328 (GRCm39) M280V probably benign Het
Slc9a8 C T 2: 167,313,352 (GRCm39) P409S probably benign Het
Smarca4 CGAGGAGGAGGAGGAGG CGAGGAGGAGGAGG 9: 21,612,239 (GRCm39) probably benign Het
Spc25 T C 2: 69,035,498 (GRCm39) D4G probably damaging Het
Specc1 C T 11: 61,933,883 (GRCm39) R88C probably damaging Het
Srsf11 C T 3: 157,724,948 (GRCm39) probably null Het
Stt3b T C 9: 115,079,995 (GRCm39) E639G probably damaging Het
Sult3a1 A C 10: 33,742,616 (GRCm39) E81A probably damaging Het
Taf1b G A 12: 24,606,623 (GRCm39) G481D probably benign Het
Tgm4 T C 9: 122,874,129 (GRCm39) V123A probably benign Het
Tie1 G T 4: 118,331,604 (GRCm39) H973N probably damaging Het
Tmem117 C T 15: 94,992,425 (GRCm39) R362W probably damaging Het
Ubap2 C T 4: 41,199,872 (GRCm39) A752T probably benign Het
Vcan A G 13: 89,837,780 (GRCm39) V1628A probably benign Het
Vmn2r115 T A 17: 23,564,245 (GRCm39) M139K probably benign Het
Wwp1 A G 4: 19,659,709 (GRCm39) V193A probably benign Het
Zcchc8 C T 5: 123,838,721 (GRCm39) A606T probably benign Het
Zfp131 G A 13: 120,230,316 (GRCm39) L371F probably damaging Het
Zfp518b T C 5: 38,830,949 (GRCm39) D352G probably damaging Het
Zfp784 A G 7: 5,039,453 (GRCm39) probably benign Het
Zfp940 A T 7: 29,545,500 (GRCm39) F136I probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TAAGGTAGTCTACTGCCCAGGCAC -3'
(R):5'- TGACACACGTCCATCAGGAATGAAC -3'

Sequencing Primer
(F):5'- CAGGCACTCCTCATTGACG -3'
(R):5'- GTCAGGGGTATTGACATCCAC -3'
Posted On 2014-04-24