Incidental Mutation 'IGL02953:Txnip'
ID364996
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Txnip
Ensembl Gene ENSMUSG00000038393
Gene Namethioredoxin interacting protein
SynonymsTHIF, VDUP1, mVDUP1, Hyplip1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02953
Quality Score
Status
Chromosome3
Chromosomal Location96557957-96561883 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 96558366 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 44 (V44D)
Ref Sequence ENSEMBL: ENSMUSP00000102710 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049093] [ENSMUST00000074519]
Predicted Effect probably damaging
Transcript: ENSMUST00000049093
AA Change: V44D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000041467
Gene: ENSMUSG00000038393
AA Change: V44D

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: V44D

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102710
Gene: ENSMUSG00000038393
AA Change: V44D

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057N15Rik A G 16: 88,773,646 S169P possibly damaging Het
Adap2 G A 11: 80,154,300 G29R probably damaging Het
Adcy2 A T 13: 68,729,328 I431N probably damaging Het
Amer3 T C 1: 34,587,796 V372A probably damaging Het
Aspm T A 1: 139,457,419 V267D probably benign Het
Atp6v0b A T 4: 117,885,222 V111E probably damaging Het
Clmp T A 9: 40,774,387 L193Q probably damaging Het
Dcaf7 T G 11: 106,051,876 Y216* probably null Het
Dcbld2 T A 16: 58,451,737 D385E probably benign Het
Des T A 1: 75,363,644 D398E possibly damaging Het
Fancm C T 12: 65,121,966 T1701I probably benign Het
Fat1 C A 8: 45,024,314 D2132E probably damaging Het
Fkbp14 T C 6: 54,579,682 K161R probably damaging Het
Fopnl T C 16: 14,304,475 K142E probably benign Het
Fuca2 C T 10: 13,507,429 probably benign Het
Gm4763 C T 7: 24,723,566 C109Y probably damaging Het
Habp2 T A 19: 56,314,232 probably null Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Herc3 C T 6: 58,857,733 Q242* probably null Het
Igkv4-81 T C 6: 68,990,997 K40R probably benign Het
Irf5 C A 6: 29,536,672 H461N possibly damaging Het
Nav2 G A 7: 49,548,423 V1267M probably damaging Het
Nlk A G 11: 78,626,701 V155A probably benign Het
Nup214 C T 2: 31,988,229 H303Y possibly damaging Het
Pld1 A C 3: 28,112,247 M812L probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Secisbp2l C T 2: 125,760,274 E389K probably benign Het
Serpina3a C T 12: 104,116,489 R174C probably benign Het
Spef2 T C 15: 9,713,243 R405G possibly damaging Het
Srpx A T X: 10,117,467 probably benign Het
St18 T A 1: 6,844,113 probably benign Het
Tcerg1 C T 18: 42,548,470 P561S probably damaging Het
Topbp1 T A 9: 103,328,435 N757K probably benign Het
Trrap G T 5: 144,815,964 L1782F probably damaging Het
Tut1 G T 19: 8,962,692 V347L probably damaging Het
Usp8 C T 2: 126,737,937 T369I probably benign Het
Zzef1 A G 11: 72,855,398 N842S probably benign Het
Other mutations in Txnip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02297:Txnip APN 3 96558357 missense probably damaging 1.00
IGL03066:Txnip APN 3 96559618 missense probably damaging 0.97
P0029:Txnip UTSW 3 96560363 splice site probably null
R0336:Txnip UTSW 3 96559979 missense probably benign 0.00
R1604:Txnip UTSW 3 96558961 missense probably benign 0.18
R1988:Txnip UTSW 3 96559750 missense possibly damaging 0.50
R4603:Txnip UTSW 3 96558288 missense probably benign
R4659:Txnip UTSW 3 96559427 missense probably damaging 1.00
R4845:Txnip UTSW 3 96559600 missense probably benign 0.36
R6787:Txnip UTSW 3 96560307 missense probably damaging 1.00
R6992:Txnip UTSW 3 96559123 missense possibly damaging 0.47
R7241:Txnip UTSW 3 96559675 missense probably damaging 1.00
X0050:Txnip UTSW 3 96559778 missense probably damaging 1.00
X0057:Txnip UTSW 3 96558965 critical splice donor site probably null
Posted On2015-12-18