Incidental Mutation 'IGL03370:Pgd'
ID 420273
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 # IGL03370
Quality Score
Status
Chromosome 4
Chromosomal Location 149234448-149251162 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 149249685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 29 (V29D)
Ref Sequence ENSEMBL: ENSMUSP00000081141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084124]
AlphaFold Q9DCD0
Predicted Effect probably damaging
Transcript: ENSMUST00000084124
AA Change: V29D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961
AA Change: V29D

DomainStartEndE-ValueType
Pfam:NAD_binding_2 3 176 3.2e-52 PFAM
6PGD 180 470 7.75e-219 SMART
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actl7b A G 4: 56,741,173 (GRCm39) Y62H probably damaging Het
Cfap52 A G 11: 67,829,881 (GRCm39) I296T probably damaging Het
Col14a1 A G 15: 55,351,937 (GRCm39) probably null Het
Daam2 G T 17: 49,793,529 (GRCm39) D329E probably benign Het
Defb26 A G 2: 152,349,902 (GRCm39) V126A probably benign Het
Fasn A T 11: 120,703,621 (GRCm39) I1535N possibly damaging Het
Fbxw15 A T 9: 109,384,219 (GRCm39) Y431N probably benign Het
Fbxw26 T G 9: 109,575,087 (GRCm39) I13L probably damaging Het
Fggy A T 4: 95,710,301 (GRCm39) H300L probably damaging Het
Fndc3c1 G A X: 105,464,307 (GRCm39) T1277I probably benign Het
Gigyf1 G T 5: 137,523,952 (GRCm39) V1041L possibly damaging Het
Kif26b G A 1: 178,742,946 (GRCm39) R567H probably benign Het
Kpna6 G A 4: 129,549,314 (GRCm39) T156M probably damaging Het
Lrrc37a C T 11: 103,388,499 (GRCm39) E2309K unknown Het
Lyn T C 4: 3,780,931 (GRCm39) Y357H possibly damaging Het
Mki67 A G 7: 135,297,219 (GRCm39) V2605A probably benign Het
Mtmr3 T C 11: 4,437,385 (GRCm39) D1023G probably damaging Het
Muc5b G T 7: 141,418,514 (GRCm39) R3820L probably benign Het
Mus81 A G 19: 5,534,991 (GRCm39) probably benign Het
Nup188 A G 2: 30,230,653 (GRCm39) Y1397C possibly damaging Het
Plch2 T C 4: 155,071,371 (GRCm39) S244G probably benign Het
Rapgef5 C A 12: 117,694,294 (GRCm39) T372K probably damaging Het
Rb1 A G 14: 73,520,306 (GRCm39) probably null Het
Ryr3 A T 2: 112,586,944 (GRCm39) V2680E possibly damaging Het
Sgsm3 A C 15: 80,895,855 (GRCm39) probably null Het
Slc38a1 C T 15: 96,477,228 (GRCm39) V362I possibly damaging Het
Sun1 T A 5: 139,216,886 (GRCm39) D308E probably damaging Het
Tns1 C T 1: 74,025,053 (GRCm39) V387M probably damaging Het
Ttn C A 2: 76,582,083 (GRCm39) G22937C probably damaging Het
Ubr1 C A 2: 120,725,641 (GRCm39) A1258S probably benign Het
Vmn2r74 A G 7: 85,607,265 (GRCm39) F153L probably benign Het
Other mutations in Pgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Pgd APN 4 149,241,210 (GRCm39) missense probably damaging 1.00
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
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 2016-08-02