Incidental Mutation 'IGL02021:Tigar'
ID 183958
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tigar
Ensembl Gene ENSMUSG00000038028
Gene Name Trp53 induced glycolysis regulatory phosphatase
Synonyms Tigar, 9630033F20Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02021
Quality Score
Status
Chromosome 6
Chromosomal Location 127062079-127086520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127066253 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q8BZA9
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: 3,457,890 (GRCm39) probably benign Het
Adam10 C T 9: 70,651,191 (GRCm39) T72I possibly damaging Het
Adam26b T A 8: 43,972,909 (GRCm39) M698L probably benign Het
Ankrd27 A T 7: 35,313,881 (GRCm39) H404L probably damaging Het
Atp1a1 T C 3: 101,501,524 (GRCm39) S60G probably benign Het
Bcat1 T C 6: 144,993,015 (GRCm39) probably benign Het
Cd177 G A 7: 24,444,631 (GRCm39) A650V probably benign Het
Cmya5 T C 13: 93,231,057 (GRCm39) N1344D probably benign Het
Ctsd G T 7: 141,939,213 (GRCm39) L71I probably damaging Het
Dctn2 T C 10: 127,110,926 (GRCm39) probably null Het
Ddr1 G A 17: 35,994,372 (GRCm39) A801V probably damaging Het
Dennd2b T C 7: 109,156,579 (GRCm39) Y57C probably damaging Het
Duoxa1 A G 2: 122,135,127 (GRCm39) F251S probably benign Het
Fcho1 A C 8: 72,173,919 (GRCm39) S2A probably benign Het
Gm4861 T C 3: 137,257,871 (GRCm39) probably null Het
Gm4922 C A 10: 18,660,225 (GRCm39) G166W probably damaging Het
Hic2 A G 16: 17,076,617 (GRCm39) E482G probably benign Het
Hoxa5 C T 6: 52,179,637 (GRCm39) R246K probably damaging Het
Ipo11 A T 13: 106,993,745 (GRCm39) F721I probably damaging Het
Lama1 A T 17: 68,128,621 (GRCm39) S2993C probably damaging Het
Lonp2 T A 8: 87,435,599 (GRCm39) S612T probably benign Het
Lpar5 T G 6: 125,058,955 (GRCm39) Y225* probably null Het
Map4k3 A G 17: 80,917,255 (GRCm39) Y574H probably damaging Het
Msantd4 A G 9: 4,385,163 (GRCm39) E296G probably damaging Het
Ncs1 A G 2: 31,174,177 (GRCm39) D109G probably damaging Het
Nnt T C 13: 119,472,783 (GRCm39) probably benign Het
Nr1h5 T C 3: 102,855,058 (GRCm39) probably benign Het
Or2ag20 A T 7: 106,464,696 (GRCm39) K170* probably null Het
Or4g7 A G 2: 111,309,825 (GRCm39) D232G probably benign Het
Plk4 A G 3: 40,765,143 (GRCm39) D595G probably damaging Het
Rbm17 C A 2: 11,600,249 (GRCm39) probably benign Het
Slc24a3 T A 2: 145,360,836 (GRCm39) I193N probably damaging Het
Stat5a G T 11: 100,774,715 (GRCm39) V759F probably damaging Het
Tgfbi T A 13: 56,779,166 (GRCm39) L463Q probably damaging Het
Tph1 A G 7: 46,306,421 (GRCm39) I180T possibly damaging Het
Usp22 T A 11: 61,045,325 (GRCm39) Y517F probably damaging Het
Vmn2r105 A C 17: 20,448,157 (GRCm39) I222M possibly damaging Het
Wapl A G 14: 34,444,293 (GRCm39) I582V probably benign Het
Zfp217 A G 2: 169,957,069 (GRCm39) V643A probably benign Het
Other mutations in Tigar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Tigar APN 6 127,065,042 (GRCm39) missense probably damaging 0.98
IGL01099:Tigar APN 6 127,065,108 (GRCm39) missense probably benign
R0356:Tigar UTSW 6 127,068,145 (GRCm39) critical splice donor site probably null
R1972:Tigar UTSW 6 127,064,889 (GRCm39) missense possibly damaging 0.62
R5492:Tigar UTSW 6 127,066,167 (GRCm39) missense possibly damaging 0.80
R6063:Tigar UTSW 6 127,068,164 (GRCm39) missense probably benign 0.00
R7447:Tigar UTSW 6 127,065,129 (GRCm39) missense probably benign 0.03
R8759:Tigar UTSW 6 127,068,220 (GRCm39) missense probably benign 0.19
R9281:Tigar UTSW 6 127,068,157 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07