Incidental Mutation 'IGL00515:Tigar'
ID6332
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 #IGL00515
Quality Score
Status
Chromosome6
Chromosomal Location127085116-127109557 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 127088079 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Arginine at position 202 (M202R)
Ref Sequence ENSEMBL: ENSMUSP00000048643 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039913] [ENSMUST00000200988]
Predicted Effect probably damaging
Transcript: ENSMUST00000039913
AA Change: M202R

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000048643
Gene: ENSMUSG00000038028
AA Change: M202R

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T C 8: 71,457,319 E395G probably damaging Het
Agbl2 T C 2: 90,793,960 V188A possibly damaging Het
Arap3 A G 18: 37,975,926 L1225P probably damaging Het
Btn2a2 A T 13: 23,478,576 N372K probably damaging Het
C4b T C 17: 34,728,891 D1650G probably damaging Het
Dip2b G A 15: 100,174,501 R706Q probably damaging Het
Dscam T A 16: 96,608,065 N1886I possibly damaging Het
Fam122a T C 19: 24,476,632 D242G probably damaging Het
Foxp2 A T 6: 15,403,819 H390L probably damaging Het
Galnt5 T C 2: 57,999,068 S227P probably benign Het
Hectd2 A G 19: 36,584,936 T148A probably benign Het
Helz2 C T 2: 181,233,006 W1898* probably null Het
Hmgxb4 C A 8: 75,000,911 P174Q probably damaging Het
Il6st A G 13: 112,481,433 probably null Het
Lef1 A G 3: 131,204,277 R312G probably damaging Het
Mast2 G T 4: 116,311,329 R805S probably benign Het
Naip2 C T 13: 100,154,887 R1181K probably benign Het
Nfatc1 G T 18: 80,667,026 H508Q probably damaging Het
Plekhg4 A G 8: 105,375,738 T76A probably benign Het
Rln1 C T 19: 29,332,014 V122I possibly damaging Het
Slc22a28 T C 19: 8,117,064 I198V probably benign Het
Slco1c1 G A 6: 141,569,482 R702H probably benign Het
Slit1 T A 19: 41,624,501 H860L probably damaging Het
Slk A G 19: 47,642,096 probably benign Het
Stab1 A T 14: 31,159,729 I535N probably benign Het
Tsc22d1 A G 14: 76,418,477 S42G probably damaging Het
Zc3h7a A T 16: 11,137,338 N957K probably damaging Het
Other mutations in Tigar
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Tigar APN 6 127088145 missense probably benign
IGL02021:Tigar APN 6 127089290 missense probably damaging 0.97
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
Posted On2012-04-20