Incidental Mutation 'IGL01099:Tigar'
ID 51310
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 # IGL01099
Quality Score
Status
Chromosome 6
Chromosomal Location 127062079-127086520 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 127065108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 180 (A180E)
Ref Sequence ENSEMBL: ENSMUSP00000048643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039913] [ENSMUST00000200988]
AlphaFold Q8BZA9
Predicted Effect probably benign
Transcript: ENSMUST00000039913
AA Change: A180E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000048643
Gene: ENSMUSG00000038028
AA Change: A180E

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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,965,031 (GRCm39) probably benign Het
Adam28 A G 14: 68,874,778 (GRCm39) probably null Het
Adcy10 A G 1: 165,367,411 (GRCm39) I560M probably benign Het
Alpl G A 4: 137,470,624 (GRCm39) probably benign Het
Ank1 G A 8: 23,598,265 (GRCm39) G753D probably damaging Het
Arhgef28 A T 13: 98,090,480 (GRCm39) probably benign Het
Bmp7 A T 2: 172,717,055 (GRCm39) C329S probably damaging Het
Capn13 T C 17: 73,658,504 (GRCm39) D188G probably damaging Het
Car10 G A 11: 93,469,516 (GRCm39) E164K possibly damaging Het
Cfhr1 T A 1: 139,475,497 (GRCm39) probably benign Het
Col11a1 C T 3: 113,905,690 (GRCm39) R562* probably null Het
Colec12 C T 18: 9,848,826 (GRCm39) R335C probably damaging Het
Cyb561d2 C T 9: 107,417,488 (GRCm39) probably null Het
Epb41l3 A G 17: 69,517,188 (GRCm39) D72G possibly damaging Het
Etl4 T C 2: 20,811,922 (GRCm39) L1335P probably benign Het
F5 T G 1: 164,021,903 (GRCm39) N1459K probably damaging Het
Fam161a T C 11: 22,965,894 (GRCm39) probably benign Het
Flnc G A 6: 29,433,617 (GRCm39) V54M probably damaging Het
Fndc3b T C 3: 27,517,966 (GRCm39) I607V probably benign Het
Fscb A G 12: 64,518,875 (GRCm39) S864P unknown Het
Glod4 T A 11: 76,130,376 (GRCm39) K36* probably null Het
Gm6619 G A 6: 131,467,393 (GRCm39) R86Q possibly damaging Het
Gm7052 T C 17: 22,258,706 (GRCm39) probably benign Het
Gyg1 A T 3: 20,205,211 (GRCm39) M119K probably benign Het
Ifit2 A T 19: 34,550,702 (GRCm39) I81F probably damaging Het
Insr T C 8: 3,308,682 (GRCm39) Y118C probably damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Kcnh3 T C 15: 99,137,617 (GRCm39) S771P probably benign Het
Kndc1 C A 7: 139,500,700 (GRCm39) H688Q probably damaging Het
Mybpc2 A G 7: 44,165,591 (GRCm39) C330R probably damaging Het
Naa50 A T 16: 43,976,832 (GRCm39) N23I probably damaging Het
Nt5el A T 13: 105,245,868 (GRCm39) H143L probably benign Het
Or55b4 T A 7: 102,133,685 (GRCm39) D214V probably damaging Het
Or5a1 A G 19: 12,097,240 (GRCm39) S279P probably damaging Het
Or8b48 T C 9: 38,493,373 (GRCm39) S267P probably benign Het
Or8c16 T C 9: 38,131,039 (GRCm39) S307P probably benign Het
Pfkp A T 13: 6,653,426 (GRCm39) probably benign Het
Phlda2 G A 7: 143,055,876 (GRCm39) probably null Het
Plxnd1 C A 6: 115,946,906 (GRCm39) V823L probably benign Het
Prpf40a T A 2: 53,031,847 (GRCm39) H794L probably benign Het
Ripor2 A T 13: 24,885,190 (GRCm39) H436L probably benign Het
Rnf138 T A 18: 21,153,970 (GRCm39) C159S possibly damaging Het
Scn7a A T 2: 66,514,582 (GRCm39) V1064D probably damaging Het
Slc12a2 T A 18: 58,039,092 (GRCm39) C557* probably null Het
Slc1a6 T C 10: 78,624,831 (GRCm39) S79P possibly damaging Het
Snapin G A 3: 90,397,909 (GRCm39) probably benign Het
Tdp1 A T 12: 99,881,704 (GRCm39) probably benign Het
Trav6-2 A T 14: 52,905,122 (GRCm39) T48S probably benign Het
Ttn A G 2: 76,558,776 (GRCm39) Y29702H probably damaging Het
Ush1c A G 7: 45,854,686 (GRCm39) S689P probably damaging Het
Vmn1r40 A T 6: 89,691,578 (GRCm39) I132F probably damaging Het
Vmn1r85 T A 7: 12,818,461 (GRCm39) K228* probably null Het
Wdr33 C A 18: 32,039,842 (GRCm39) probably benign Het
Ybx2 A T 11: 69,831,556 (GRCm39) Q136L probably damaging Het
Ypel1 T A 16: 16,909,076 (GRCm39) M368L probably damaging Het
Other mutations in Tigar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Tigar APN 6 127,065,042 (GRCm39) missense probably damaging 0.98
IGL02021:Tigar APN 6 127,066,253 (GRCm39) missense probably damaging 0.97
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 2013-06-21