Incidental Mutation 'IGL03028:Pgd'
ID 408310
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgd
Ensembl Gene ENSMUSG00000028961
Gene Name phosphogluconate dehydrogenase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock # IGL03028
Quality Score
Status
Chromosome 4
Chromosomal Location 149149991-149166771 bp(-) (GRCm38)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 149161627 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000081141 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084124]
AlphaFold Q9DCD0
Predicted Effect probably null
Transcript: ENSMUST00000084124
SMART Domains Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961

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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,594,762 V86G probably benign Het
Adgra3 A T 5: 50,016,852 W115R probably benign Het
Ahr G A 12: 35,504,710 A470V probably benign Het
AI481877 A C 4: 59,094,274 I150S possibly damaging Het
Aoah A T 13: 20,816,582 Q62L possibly damaging Het
Arhgef12 A T 9: 43,026,228 D100E possibly damaging Het
Asic1 A G 15: 99,672,157 N120D probably benign Het
Atp2b2 A G 6: 113,759,142 L988P probably damaging Het
Atxn2 T A 5: 121,810,909 H789Q probably damaging Het
Clk1 G T 1: 58,421,102 S123* probably null Het
Col10a1 C T 10: 34,395,016 A328V probably benign Het
Col26a1 G T 5: 136,743,118 D415E possibly damaging Het
Ctla2a A G 13: 60,935,459 probably benign Het
Cwf19l2 A G 9: 3,430,622 E318G probably benign Het
Dnajc16 C T 4: 141,767,732 W523* probably null Het
Ehhadh T C 16: 21,762,394 E616G probably damaging Het
F5 A T 1: 164,193,000 K1015* probably null Het
Fam78a A G 2: 32,082,882 W9R possibly damaging Het
Frs2 A T 10: 117,073,933 M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 M200L probably benign Het
Gm44511 T C 6: 128,780,395 S179G probably damaging Het
Gpr25 G A 1: 136,260,812 S21L probably benign Het
Hsdl2 A G 4: 59,594,471 D34G probably damaging Het
Kcnt1 A G 2: 25,909,203 probably null Het
Kl A G 5: 150,991,550 Y914C probably damaging Het
Map3k3 T G 11: 106,110,751 V45G probably damaging Het
Mppe1 A C 18: 67,227,684 C261W probably damaging Het
Nin T C 12: 70,035,270 T1640A probably benign Het
Olfr368 C T 2: 37,331,956 L70F probably damaging Het
Olfr483 T A 7: 108,104,173 M288K probably damaging Het
Olfr570 T A 7: 102,900,829 I154N possibly damaging Het
Olfr616 A G 7: 103,564,589 probably null Het
Olfr844 A T 9: 19,319,368 Y284F probably damaging Het
Oxr1 A G 15: 41,817,163 N166D probably damaging Het
Pank4 T A 4: 154,969,985 probably benign Het
Pitrm1 C T 13: 6,574,393 H831Y probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rad51 A C 2: 119,116,314 M1L possibly damaging Het
Recql5 G T 11: 115,894,431 S746R possibly damaging Het
Rhbdl3 C T 11: 80,323,461 Q133* probably null Het
Rpp40 A T 13: 35,904,511 L59Q probably damaging Het
Rtca C A 3: 116,493,092 probably benign Het
Rtkn C T 6: 83,147,872 Q108* probably null Het
Sirt6 C T 10: 81,627,541 probably benign Het
Slc9a4 G A 1: 40,610,377 V517M probably benign Het
Smarca2 G T 19: 26,678,312 probably benign Het
Snx33 A T 9: 56,926,451 D111E probably benign Het
Tgfb1 T C 7: 25,704,196 I311T probably damaging Het
Tgfb2 C T 1: 186,630,609 probably null Het
Tmem232 T C 17: 65,256,389 T670A probably benign Het
Tnfsf4 T C 1: 161,395,642 F21L possibly damaging Het
Ubr5 T C 15: 38,047,593 T47A probably benign Het
Unc79 T C 12: 103,173,526 V2515A possibly damaging Het
Utp6 T C 11: 79,953,624 K192E probably damaging Het
Vmn2r102 T C 17: 19,694,066 F631S possibly damaging Het
Zfp516 A C 18: 82,955,913 I79L possibly damaging Het
Other mutations in Pgd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02173:Pgd APN 4 149156753 missense probably damaging 1.00
IGL02480:Pgd APN 4 149156618 missense probably damaging 1.00
IGL03370:Pgd APN 4 149165228 missense probably damaging 1.00
R0398:Pgd UTSW 4 149153882 missense probably damaging 1.00
R0601:Pgd UTSW 4 149156810 splice site probably benign
R0980:Pgd UTSW 4 149154311 splice site probably null
R1475:Pgd UTSW 4 149156775 missense probably benign 0.00
R3826:Pgd UTSW 4 149166004 splice site probably benign
R4531:Pgd UTSW 4 149156777 missense probably benign 0.01
R4832:Pgd UTSW 4 149156591 intron probably benign
R6352:Pgd UTSW 4 149160752 splice site probably null
R6353:Pgd UTSW 4 149160752 splice site probably null
R6485:Pgd UTSW 4 149156419 splice site probably null
R6514:Pgd UTSW 4 149160752 splice site probably null
R6519:Pgd UTSW 4 149150886 nonsense probably null
R6543:Pgd UTSW 4 149160752 splice site probably null
R7153:Pgd UTSW 4 149161678 missense probably benign
R9517:Pgd UTSW 4 149165211 missense possibly damaging 0.61
R9649:Pgd UTSW 4 149151139 missense probably damaging 1.00
Z1176:Pgd UTSW 4 149166679 start gained probably benign
Posted On 2016-08-02