Incidental Mutation 'IGL01318:Pgam5'
ID 73951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgam5
Ensembl Gene ENSMUSG00000029500
Gene Name phosphoglycerate mutase family member 5
Synonyms 2610528A17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01318
Quality Score
Status
Chromosome 5
Chromosomal Location 110407001-110417765 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110413391 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 235 (Y235H)
Ref Sequence ENSEMBL: ENSMUSP00000108124 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059229] [ENSMUST00000112505] [ENSMUST00000196381]
AlphaFold Q8BX10
Predicted Effect probably damaging
Transcript: ENSMUST00000059229
AA Change: Y234H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000057760
Gene: ENSMUSG00000029500
AA Change: Y234H

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PGAM 98 235 7.26e-8 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000112505
AA Change: Y235H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108124
Gene: ENSMUSG00000029500
AA Change: Y235H

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
PGAM 98 236 7.26e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130123
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136738
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181048
Predicted Effect probably benign
Transcript: ENSMUST00000196381
SMART Domains Protein: ENSMUSP00000143477
Gene: ENSMUSG00000029500

DomainStartEndE-ValueType
Pfam:His_Phos_1 62 178 6.4e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a null allele show Parkinson-like movement, dopaminergic neuron loss, and altered mitochondrial homeostasis. Homozygotes for a different null allele are smaller, with males born at sub-Mendelian ratios. Macrophages show impaired inflammasome activation and IL-1beta secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b T C 15: 90,112,592 (GRCm39) probably benign Het
Ambn T C 5: 88,608,554 (GRCm39) probably benign Het
Asap2 A G 12: 21,297,296 (GRCm39) D585G probably null Het
Chaf1a G T 17: 56,366,336 (GRCm39) probably benign Het
Ddhd1 A G 14: 45,854,008 (GRCm39) S443P probably damaging Het
Dlk2 A G 17: 46,613,390 (GRCm39) E215G probably damaging Het
Efhd2 T C 4: 141,587,176 (GRCm39) N202S probably benign Het
Gkap1 A T 13: 58,384,853 (GRCm39) I308K probably damaging Het
Gm9848 T A 13: 113,244,774 (GRCm39) noncoding transcript Het
Hmcn1 G A 1: 150,594,991 (GRCm39) T1826I probably damaging Het
Htr5a T C 5: 28,047,742 (GRCm39) V99A probably benign Het
Inha T G 1: 75,486,572 (GRCm39) F289C probably damaging Het
Kcna3 T C 3: 106,945,294 (GRCm39) V519A probably benign Het
Kcnma1 A T 14: 23,364,390 (GRCm39) probably benign Het
Kctd1 A G 18: 15,195,747 (GRCm39) V292A possibly damaging Het
Magea13 T A X: 57,964,829 (GRCm39) I196N probably damaging Het
Map2k4 A G 11: 65,647,089 (GRCm39) probably benign Het
Mfap2 G T 4: 140,742,856 (GRCm39) A175S possibly damaging Het
Milr1 G A 11: 106,656,071 (GRCm39) A114T possibly damaging Het
Mogs G T 6: 83,095,558 (GRCm39) V792F probably damaging Het
Nt5dc3 T A 10: 86,661,089 (GRCm39) M418K possibly damaging Het
Or5b12 A G 19: 12,897,490 (GRCm39) L61P probably damaging Het
Or7d10 A G 9: 19,832,054 (GRCm39) E183G probably benign Het
Or8h8 A T 2: 86,753,293 (GRCm39) N194K probably benign Het
Osbpl10 G A 9: 115,061,190 (GRCm39) W756* probably null Het
Pgm5 G T 19: 24,793,842 (GRCm39) A274E probably damaging Het
Prex1 C A 2: 166,411,260 (GRCm39) probably benign Het
Prps1l1 A T 12: 35,035,377 (GRCm39) N164I probably benign Het
Ralbp1 C A 17: 66,171,277 (GRCm39) R232L probably damaging Het
Rnaseh2a C T 8: 85,691,752 (GRCm39) probably benign Het
Stard9 A T 2: 120,529,200 (GRCm39) H1819L possibly damaging Het
Stom T A 2: 35,226,889 (GRCm39) I15F probably benign Het
Tasor2 A C 13: 3,625,067 (GRCm39) S946A possibly damaging Het
Tph1 T G 7: 46,314,662 (GRCm39) T22P probably damaging Het
Uqcrfs1 A G 13: 30,724,904 (GRCm39) I212T probably benign Het
Ush2a T C 1: 188,546,550 (GRCm39) I3442T probably benign Het
Vinac1 C A 2: 128,880,622 (GRCm39) V435L probably benign Het
Vmn2r113 A G 17: 23,177,309 (GRCm39) I698V probably benign Het
Vmn2r75 T C 7: 85,814,774 (GRCm39) I240V probably benign Het
Wdr17 T C 8: 55,125,585 (GRCm39) T432A probably damaging Het
Other mutations in Pgam5
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0839:Pgam5 UTSW 5 110,414,996 (GRCm39) missense probably benign 0.11
R2192:Pgam5 UTSW 5 110,413,785 (GRCm39) missense probably damaging 0.99
R2508:Pgam5 UTSW 5 110,413,869 (GRCm39) missense probably damaging 1.00
R3772:Pgam5 UTSW 5 110,413,459 (GRCm39) missense probably damaging 1.00
R3873:Pgam5 UTSW 5 110,413,465 (GRCm39) missense probably damaging 1.00
R4900:Pgam5 UTSW 5 110,408,301 (GRCm39) missense probably damaging 0.99
R4929:Pgam5 UTSW 5 110,413,691 (GRCm39) missense probably damaging 1.00
R5195:Pgam5 UTSW 5 110,413,854 (GRCm39) nonsense probably null
R5691:Pgam5 UTSW 5 110,414,959 (GRCm39) missense probably damaging 0.99
R9193:Pgam5 UTSW 5 110,413,466 (GRCm39) missense probably benign 0.34
Posted On 2013-10-07