Incidental Mutation 'IGL02480:Pgd'
ID 295173
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgd
Ensembl Gene ENSMUSG00000028961
Gene Name phosphogluconate dehydrogenase
Synonyms 0610042A05Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL02480
Quality Score
Status
Chromosome 4
Chromosomal Location 149234448-149251162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149241075 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 278 (V278A)
Ref Sequence ENSEMBL: ENSMUSP00000081141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084124]
AlphaFold Q9DCD0
Predicted Effect probably damaging
Transcript: ENSMUST00000084124
AA Change: V278A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961
AA Change: V278A

DomainStartEndE-ValueType
Pfam:NAD_binding_2 3 176 3.2e-52 PFAM
6PGD 180 470 7.75e-219 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124409
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137982
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143944
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156120
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac T A 3: 59,946,908 (GRCm39) I202K probably benign Het
Abcc1 T A 16: 14,221,869 (GRCm39) S169T possibly damaging Het
Acsm1 A T 7: 119,255,265 (GRCm39) I389F possibly damaging Het
Actn2 T A 13: 12,291,364 (GRCm39) Q680L probably benign Het
Ankrd13d G A 19: 4,321,491 (GRCm39) P404S possibly damaging Het
Ankrd46 G T 15: 36,484,142 (GRCm39) probably benign Het
Arfip1 A G 3: 84,455,239 (GRCm39) probably null Het
Asb15 A T 6: 24,570,745 (GRCm39) L574F probably damaging Het
Cym T C 3: 107,120,838 (GRCm39) I256V probably benign Het
Cyp3a44 C T 5: 145,731,715 (GRCm39) E144K possibly damaging Het
Efna1 T C 3: 89,179,902 (GRCm39) E109G probably benign Het
Eif4a3l1 A T 6: 136,306,213 (GRCm39) I225F probably damaging Het
Eml1 C A 12: 108,487,955 (GRCm39) Q556K probably benign Het
Eml5 T G 12: 98,842,502 (GRCm39) T199P probably damaging Het
Entr1 T A 2: 26,275,132 (GRCm39) H342L probably damaging Het
Etl4 A C 2: 20,793,335 (GRCm39) M687L probably damaging Het
Fam199x C A X: 135,950,788 (GRCm39) T56K probably damaging Het
Fat4 A G 3: 39,064,579 (GRCm39) D4845G probably damaging Het
Gm4987 T A X: 45,544,973 (GRCm39) noncoding transcript Het
Gm5828 C A 1: 16,839,766 (GRCm39) noncoding transcript Het
Gm5930 T C 14: 44,575,087 (GRCm39) Y68C probably benign Het
Gucy1a1 C T 3: 82,005,040 (GRCm39) V582M probably damaging Het
Haghl G T 17: 26,002,033 (GRCm39) A220E probably damaging Het
Hsf5 G A 11: 87,522,483 (GRCm39) A359T possibly damaging Het
Igsf9 C A 1: 172,324,480 (GRCm39) D799E possibly damaging Het
Igsf9 A T 1: 172,312,345 (GRCm39) probably benign Het
Itga1 A T 13: 115,124,184 (GRCm39) F703I probably damaging Het
Kcna6 G A 6: 126,715,531 (GRCm39) P453S probably damaging Het
Lzic A T 4: 149,571,260 (GRCm39) N15I probably damaging Het
Or1j10 T G 2: 36,267,504 (GRCm39) C239G probably damaging Het
Or2n1d A G 17: 38,646,314 (GRCm39) R89G probably benign Het
Or4f54 A G 2: 111,122,858 (GRCm39) I82V possibly damaging Het
Or5p78 C T 7: 108,212,018 (GRCm39) T168I probably benign Het
P4ha1 T C 10: 59,179,574 (GRCm39) Y141H probably damaging Het
Paxx G A 2: 25,350,024 (GRCm39) P164S probably damaging Het
Pik3c2g A G 6: 139,798,526 (GRCm39) Y352C probably damaging Het
Pkd2l2 A G 18: 34,571,843 (GRCm39) N614S possibly damaging Het
Poli T C 18: 70,658,477 (GRCm39) T86A probably benign Het
Psd2 G A 18: 36,139,136 (GRCm39) R528H probably damaging Het
Ptchd4 G T 17: 42,813,431 (GRCm39) C444F probably benign Het
Ptpra C A 2: 130,346,181 (GRCm39) T114K probably benign Het
Rho A G 6: 115,912,505 (GRCm39) N123S probably benign Het
Setd5 A G 6: 113,120,770 (GRCm39) D993G probably damaging Het
Slc1a2 T C 2: 102,566,411 (GRCm39) L38P probably damaging Het
Slc2a7 G A 4: 150,244,569 (GRCm39) V346M possibly damaging Het
Slc43a1 A G 2: 84,669,928 (GRCm39) I7V probably benign Het
Spag9 C T 11: 93,999,413 (GRCm39) Q691* probably null Het
Timmdc1 A T 16: 38,342,763 (GRCm39) V45D probably null Het
Tlr8 T A X: 166,027,179 (GRCm39) H557L probably damaging Het
Other mutations in Pgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Pgd APN 4 149,241,210 (GRCm39) missense probably damaging 1.00
IGL03028:Pgd APN 4 149,246,084 (GRCm39) critical splice donor site probably null
IGL03370:Pgd APN 4 149,249,685 (GRCm39) missense probably damaging 1.00
R0398:Pgd UTSW 4 149,238,339 (GRCm39) missense probably damaging 1.00
R0601:Pgd UTSW 4 149,241,267 (GRCm39) splice site probably benign
R0980:Pgd UTSW 4 149,238,768 (GRCm39) splice site probably null
R1475:Pgd UTSW 4 149,241,232 (GRCm39) missense probably benign 0.00
R3826:Pgd UTSW 4 149,250,461 (GRCm39) splice site probably benign
R4531:Pgd UTSW 4 149,241,234 (GRCm39) missense probably benign 0.01
R4832:Pgd UTSW 4 149,241,048 (GRCm39) intron probably benign
R6352:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6353:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6485:Pgd UTSW 4 149,240,876 (GRCm39) splice site probably null
R6514:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R6519:Pgd UTSW 4 149,235,343 (GRCm39) nonsense probably null
R6543:Pgd UTSW 4 149,245,209 (GRCm39) splice site probably null
R7153:Pgd UTSW 4 149,246,135 (GRCm39) missense probably benign
R9517:Pgd UTSW 4 149,249,668 (GRCm39) missense possibly damaging 0.61
R9649:Pgd UTSW 4 149,235,596 (GRCm39) missense probably damaging 1.00
Z1176:Pgd UTSW 4 149,251,136 (GRCm39) start gained probably benign
Posted On 2015-04-16