Incidental Mutation 'IGL02021:Tigar'
ID183958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tigar
Ensembl Gene ENSMUSG00000038028
Gene NameTrp53 induced glycolysis repulatory phosphatase
Synonyms9630033F20Rik, Tigar
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02021
Quality Score
Status
Chromosome6
Chromosomal Location127085116-127109557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 127089290 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Glutamic Acid at position 95 (A95E)
Ref Sequence ENSEMBL: ENSMUSP00000048643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039913] [ENSMUST00000200988]
Predicted Effect probably damaging
Transcript: ENSMUST00000039913
AA Change: A95E

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048643
Gene: ENSMUSG00000038028
AA Change: A95E

DomainStartEndE-ValueType
PGAM 5 205 8.71e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000200988
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 is regulated as part of the p53 tumor suppressor pathway and encodes a protein with sequence similarity to the bisphosphate domain of the glycolytic enzyme that degrades fructose-2,6-bisphosphate. The protein functions by blocking glycolysis and directing the pathway into the pentose phosphate shunt. Expression of this protein also protects cells from DNA damaging reactive oxygen species and provides some protection from DNA damage-induced apoptosis. The 12p13.32 region that includes this gene is paralogous to the 11q13.3 region. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit improved response to myocardial infarction associated with increased autophagy, mitophagy, levels of reactive oxygen species production and decreased mitochondria DNA damage. Mice homozygous for a different allele exhibit impaired crypt regeneration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik G A 12: 3,407,890 probably benign Het
Adam10 C T 9: 70,743,909 T72I possibly damaging Het
Adam26b T A 8: 43,519,872 M698L probably benign Het
Ankrd27 A T 7: 35,614,456 H404L probably damaging Het
Atp1a1 T C 3: 101,594,208 S60G probably benign Het
Bcat1 T C 6: 145,047,289 probably benign Het
Cd177 G A 7: 24,745,206 A650V probably benign Het
Cmya5 T C 13: 93,094,549 N1344D probably benign Het
Ctsd G T 7: 142,385,476 L71I probably damaging Het
Dctn2 T C 10: 127,275,057 probably null Het
Ddr1 G A 17: 35,683,480 A801V probably damaging Het
Duoxa1 A G 2: 122,304,646 F251S probably benign Het
Fcho1 A C 8: 71,721,275 S2A probably benign Het
Gm4861 T C 3: 137,552,110 probably null Het
Gm4922 C A 10: 18,784,477 G166W probably damaging Het
Hic2 A G 16: 17,258,753 E482G probably benign Het
Hoxa5 C T 6: 52,202,657 R246K probably damaging Het
Ipo11 A T 13: 106,857,237 F721I probably damaging Het
Lama1 A T 17: 67,821,626 S2993C probably damaging Het
Lonp2 T A 8: 86,708,971 S612T probably benign Het
Lpar5 T G 6: 125,081,992 Y225* probably null Het
Map4k3 A G 17: 80,609,826 Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 E296G probably damaging Het
Ncs1 A G 2: 31,284,165 D109G probably damaging Het
Nnt T C 13: 119,336,247 probably benign Het
Nr1h5 T C 3: 102,947,742 probably benign Het
Olfr1288 A G 2: 111,479,480 D232G probably benign Het
Olfr704 A T 7: 106,865,489 K170* probably null Het
Plk4 A G 3: 40,810,708 D595G probably damaging Het
Rbm17 C A 2: 11,595,438 probably benign Het
Slc24a3 T A 2: 145,518,916 I193N probably damaging Het
St5 T C 7: 109,557,372 Y57C probably damaging Het
Stat5a G T 11: 100,883,889 V759F probably damaging Het
Tgfbi T A 13: 56,631,353 L463Q probably damaging Het
Tph1 A G 7: 46,656,997 I180T possibly damaging Het
Usp22 T A 11: 61,154,499 Y517F probably damaging Het
Vmn2r105 A C 17: 20,227,895 I222M possibly damaging Het
Wapl A G 14: 34,722,336 I582V probably benign Het
Zfp217 A G 2: 170,115,149 V643A probably benign Het
Other mutations in Tigar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Tigar APN 6 127088079 missense probably damaging 0.98
IGL01099:Tigar APN 6 127088145 missense probably benign
R0356:Tigar UTSW 6 127091182 critical splice donor site probably null
R1972:Tigar UTSW 6 127087926 missense possibly damaging 0.62
R5492:Tigar UTSW 6 127089204 missense possibly damaging 0.80
R6063:Tigar UTSW 6 127091201 missense probably benign 0.00
R7447:Tigar UTSW 6 127088166 missense probably benign 0.03
R8759:Tigar UTSW 6 127091257 missense probably benign 0.19
Posted On2014-05-07