Incidental Mutation 'R6138:Pgk1'
ID 488463
Institutional Source Beutler Lab
Gene Symbol Pgk1
Ensembl Gene ENSMUSG00000062070
Gene Name phosphoglycerate kinase 1
Synonyms Pgk-1
MMRRC Submission 044285-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.946) question?
Stock # R6138 (G1)
Quality Score 221.999
Status Validated
Chromosome X
Chromosomal Location 105230706-105247305 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 105238098 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Isoleucine at position 85 (L85I)
Ref Sequence ENSEMBL: ENSMUSP00000080302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081593] [ENSMUST00000135949]
AlphaFold P09411
PDB Structure Crystal Structure of mouse PGK1 3PG and terazosin(TZN) ternary complex [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000081593
AA Change: L85I

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080302
Gene: ENSMUSG00000062070
AA Change: L85I

DomainStartEndE-ValueType
Pfam:PGK 9 406 1e-152 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133559
Predicted Effect possibly damaging
Transcript: ENSMUST00000135949
AA Change: L85I

PolyPhen 2 Score 0.644 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000138706
Gene: ENSMUSG00000062070
AA Change: L85I

DomainStartEndE-ValueType
Pfam:PGK 8 253 3.9e-94 PFAM
Meta Mutation Damage Score 0.4493 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 100% (31/31)
MGI Phenotype FUNCTION: The protein encoded by this gene is a glycolytic enzyme that catalyzes the conversion of 1,3-diphosphoglycerate to 3-phosphoglycerate. Additionally, this protein is secreted by tumor cells where it participates in angiogenesis by functioning to reduce disulfide bonds in the serine protease, plasmin, which consequently leads to the release of the tumor blood vessel inhibitor angiostatin. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. Many pseudogenes of this gene are found throughout the mouse genome. [provided by RefSeq, Jan 2014]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
6820408C15Rik T C 2: 152,282,790 (GRCm39) V215A probably damaging Het
Abhd14a A T 9: 106,321,065 (GRCm39) S97T possibly damaging Het
Adamts2 T A 11: 50,647,533 (GRCm39) I302N probably damaging Het
Adgra2 G A 8: 27,604,457 (GRCm39) A511T probably damaging Het
Akap9 T C 5: 4,117,924 (GRCm39) probably null Het
Ccr6 G A 17: 8,475,214 (GRCm39) V140I probably damaging Het
Dlat A T 9: 50,556,417 (GRCm39) probably null Het
Gcg A G 2: 62,306,148 (GRCm39) S150P probably damaging Het
Gk5 C T 9: 96,058,290 (GRCm39) Q424* probably null Het
Insm2 T C 12: 55,646,799 (GRCm39) I181T probably damaging Het
Itgae A G 11: 73,006,400 (GRCm39) E356G possibly damaging Het
Kitl G A 10: 99,912,768 (GRCm39) probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Myo3b T C 2: 70,069,243 (GRCm39) V494A possibly damaging Het
Myo7a C T 7: 97,714,997 (GRCm39) W1558* probably null Het
Or1ak2 G A 2: 36,827,241 (GRCm39) V37I probably benign Het
Or5p81 T A 7: 108,267,412 (GRCm39) V263E probably damaging Het
Pik3c2b G A 1: 133,002,365 (GRCm39) probably null Het
Plagl1 G A 10: 13,003,490 (GRCm39) G253R probably damaging Het
Ppp4r1 G A 17: 66,121,343 (GRCm39) V268I possibly damaging Het
Pramel27 T G 4: 143,578,155 (GRCm39) H87Q possibly damaging Het
Satl1 T C X: 111,315,613 (GRCm39) T281A probably benign Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Spmap2 A G 10: 79,420,589 (GRCm39) S159P probably damaging Het
Synrg A G 11: 83,915,126 (GRCm39) E1044G probably damaging Het
Tbx5 T C 5: 120,021,211 (GRCm39) S406P probably benign Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Vmn2r79 T A 7: 86,653,319 (GRCm39) V528D possibly damaging Het
Other mutations in Pgk1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1768:Pgk1 UTSW X 105,243,914 (GRCm39) missense possibly damaging 0.73
R6067:Pgk1 UTSW X 105,238,098 (GRCm39) missense possibly damaging 0.79
R6079:Pgk1 UTSW X 105,238,098 (GRCm39) missense possibly damaging 0.79
U15987:Pgk1 UTSW X 105,238,098 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- GTCATGAGTTCAAATAGTTCCCAC -3'
(R):5'- GCACAGGCATTCTCGACTTC -3'

Sequencing Primer
(F):5'- AAATAGTTCCCACTAATTCCTCGG -3'
(R):5'- AGGCATTCTCGACTTCTGGGC -3'
Posted On 2017-10-10