|Institutional Source||Beutler Lab|
|Gene Name||Trp53 induced glycolysis repulatory phosphatase|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R1972 (G1)|
|Chromosomal Location||127085116-127109557 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 127087926 bp|
|Amino Acid Change||Valine to Alanine at position 253 (V253A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000048643 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039913] [ENSMUST00000200988]|
|Predicted Effect||possibly damaging
AA Change: V253A
PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: V253A
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (77/77)|
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||
|Other mutations in Tigar||
(F):5'- GGATTCCCCACTAACGTCTG -3'
(R):5'- TTGGAAAACATGGCAGCTTGG -3'
(F):5'- TTCCCCACTAACGTCTGACACAG -3'
(R):5'- CAGCCAGCATCTTAGTTGTGAGC -3'