Incidental Mutation 'IGL02173:Pgd'
ID 282985
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: 0.960) question?
Stock # IGL02173
Quality Score
Status
Chromosome 4
Chromosomal Location 149234448-149251162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 149241210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 233 (I233T)
Ref Sequence ENSEMBL: ENSMUSP00000081141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084124]
AlphaFold Q9DCD0
Predicted Effect probably damaging
Transcript: ENSMUST00000084124
AA Change: I233T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961
AA Change: I233T

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik A T 10: 87,061,754 (GRCm39) H68L possibly damaging Het
4930533K18Rik A G 10: 70,708,060 (GRCm39) noncoding transcript Het
4933409G03Rik A G 2: 68,443,401 (GRCm39) T182A unknown Het
Abca2 T A 2: 25,331,909 (GRCm39) D1340E probably benign Het
Abcc12 G A 8: 87,293,071 (GRCm39) A39V probably damaging Het
Acap2 T C 16: 30,926,965 (GRCm39) R510G possibly damaging Het
Ace G T 11: 105,879,817 (GRCm39) R719L probably benign Het
Adarb1 A C 10: 77,157,659 (GRCm39) F263V probably damaging Het
Ahcyl T C 16: 45,974,441 (GRCm39) N312S probably benign Het
Ambra1 T C 2: 91,748,013 (GRCm39) S1130P probably benign Het
Aqp7 A T 4: 41,034,379 (GRCm39) L260* probably null Het
Cntn5 G T 9: 9,748,401 (GRCm39) S493R probably damaging Het
Crhr2 A G 6: 55,080,165 (GRCm39) F138S probably damaging Het
D2hgdh T A 1: 93,757,611 (GRCm39) D175E probably benign Het
Dtx4 G T 19: 12,450,621 (GRCm39) Y530* probably null Het
Elp4 T A 2: 105,533,088 (GRCm39) H419L probably damaging Het
Etv6 A G 6: 134,225,690 (GRCm39) D218G possibly damaging Het
Exoc5 A G 14: 49,272,258 (GRCm39) probably benign Het
Fyb1 C T 15: 6,610,176 (GRCm39) P250S probably benign Het
Gaa A G 11: 119,165,739 (GRCm39) Y84C probably damaging Het
Galns A T 8: 123,325,365 (GRCm39) S262R probably damaging Het
Gfus A G 15: 75,798,034 (GRCm39) S233P probably damaging Het
Kctd16 T C 18: 40,663,906 (GRCm39) I345T probably benign Het
Lats2 A G 14: 57,934,717 (GRCm39) V671A probably damaging Het
Maml3 C A 3: 51,598,208 (GRCm39) L179F probably damaging Het
Myo1f T C 17: 33,826,318 (GRCm39) L1089P probably damaging Het
Nadsyn1 A T 7: 143,357,743 (GRCm39) probably benign Het
Or1e34 A G 11: 73,778,949 (GRCm39) M83T possibly damaging Het
Or51k1 G A 7: 103,661,037 (GRCm39) P291S probably damaging Het
Or7d9 T C 9: 20,197,691 (GRCm39) V240A probably benign Het
Or9i1 A G 19: 13,839,378 (GRCm39) T74A probably benign Het
Otog T C 7: 45,926,165 (GRCm39) probably benign Het
Pcbd1 A G 10: 60,927,983 (GRCm39) probably benign Het
Pced1a A G 2: 130,264,248 (GRCm39) V164A possibly damaging Het
Ror2 C T 13: 53,264,764 (GRCm39) S764N probably damaging Het
Sec24d A T 3: 123,147,330 (GRCm39) H733L probably damaging Het
Slc1a2 T A 2: 102,574,206 (GRCm39) N205K probably benign Het
Sstr2 G T 11: 113,515,842 (GRCm39) V254L probably damaging Het
Tm9sf2 G T 14: 122,380,835 (GRCm39) V308F probably benign Het
Tor3a T C 1: 156,501,776 (GRCm39) K34E probably benign Het
Ubr4 T A 4: 139,164,381 (GRCm39) probably null Het
Vmn1r56 A G 7: 5,199,117 (GRCm39) S167P probably damaging Het
Zswim3 T A 2: 164,662,759 (GRCm39) I413N probably damaging Het
Other mutations in Pgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Pgd APN 4 149,241,075 (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