Incidental Mutation 'IGL02502:G6pd2'
ID296094
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pd2
Ensembl Gene ENSMUSG00000089992
Gene Nameglucose-6-phosphate dehydrogenase 2
SynonymsGpd2, Gpd-2, G6pdx-ps1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02502
Quality Score
Status
Chromosome5
Chromosomal Location61808816-61811163 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61809628 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 249 (Y249H)
Ref Sequence ENSEMBL: ENSMUSP00000131163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053876]
Predicted Effect probably damaging
Transcript: ENSMUST00000053876
AA Change: Y249H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: Y249H

DomainStartEndE-ValueType
Pfam:G6PD_N 35 210 4.1e-60 PFAM
Pfam:G6PD_C 212 504 9.9e-119 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 128,075,884 N216S probably damaging Het
Akap12 A G 10: 4,353,163 D96G probably damaging Het
Akna A G 4: 63,368,203 V1353A probably benign Het
Ambra1 A G 2: 91,900,532 D914G probably damaging Het
Ap1s3 A G 1: 79,623,722 V84A possibly damaging Het
Arhgef6 T C X: 57,280,263 E282G probably damaging Het
C2cd2 G T 16: 97,876,390 S378Y possibly damaging Het
Cd101 C A 3: 101,011,825 A654S probably damaging Het
Cep295 A C 9: 15,350,913 probably benign Het
Csn1s1 A G 5: 87,680,925 I283V probably benign Het
Cst3 A G 2: 148,875,145 probably benign Het
Cyp2b9 T C 7: 26,187,814 probably null Het
Dffb A G 4: 153,965,616 probably benign Het
Dnah10 A G 5: 124,821,287 Y3711C probably damaging Het
Eif4g2 T C 7: 111,081,541 S3G probably damaging Het
Erbb3 C T 10: 128,570,284 R1088H probably benign Het
Evpl T C 11: 116,222,718 D1382G probably damaging Het
Fam168a A G 7: 100,824,210 D102G probably damaging Het
Fbxo7 A G 10: 86,033,297 Y284C probably damaging Het
Gm1123 A T 9: 99,009,390 Y335* probably null Het
Gm5624 C T 14: 44,559,839 probably null Het
Hectd1 A T 12: 51,797,852 M536K possibly damaging Het
Ikbkg T A X: 74,443,827 V334E probably benign Het
Ipo7 T C 7: 110,051,050 L769P probably damaging Het
Jmjd1c A T 10: 67,225,861 K1331I probably benign Het
Krt32 T C 11: 100,087,923 K102E probably damaging Het
Lrrc34 A T 3: 30,645,245 N20K probably benign Het
Lrrc47 A G 4: 154,016,014 E349G probably benign Het
Mdn1 A G 4: 32,670,579 I415V possibly damaging Het
Myh10 A G 11: 68,814,372 probably null Het
Nbeal2 A G 9: 110,633,768 S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 probably benign Het
Notch3 A T 17: 32,158,278 C246* probably null Het
Nr3c2 A G 8: 77,242,514 Y976C probably damaging Het
Olfr1484 A G 19: 13,585,748 Y105C probably damaging Het
Olfr503 T A 7: 108,544,639 M36K probably damaging Het
Olfr64 A G 7: 103,893,489 V82A probably damaging Het
P2rx7 C T 5: 122,680,987 R491C possibly damaging Het
Pdzd3 G A 9: 44,249,651 A206V probably benign Het
Phex T A X: 157,183,827 Y625F possibly damaging Het
Pkhd1 T C 1: 20,392,165 D2055G probably damaging Het
Pmm2 T C 16: 8,645,363 probably benign Het
Prdm15 T C 16: 97,839,339 D16G probably damaging Het
Prune2 T A 19: 17,123,881 C2250S probably benign Het
Rasgef1a T A 6: 118,080,482 F48Y probably benign Het
Rhoq T C 17: 86,963,649 V15A probably damaging Het
Rnf216 G A 5: 143,068,867 A585V probably damaging Het
Sept9 T A 11: 117,290,662 I96N probably damaging Het
Shprh T A 10: 11,194,357 D1492E possibly damaging Het
Slc22a26 A T 19: 7,790,760 probably null Het
Tek T G 4: 94,853,581 probably null Het
Tenm3 T C 8: 48,288,016 E782G probably damaging Het
Trmt5 A G 12: 73,281,227 C401R probably benign Het
Tspear T G 10: 77,852,958 probably benign Het
Ubr5 G A 15: 38,030,689 T414I probably benign Het
Vcl A T 14: 21,019,385 T710S probably damaging Het
Vmn2r25 A T 6: 123,839,433 D396E probably damaging Het
Wtip A G 7: 34,118,669 probably null Het
Zap70 A G 1: 36,778,806 probably benign Het
Other mutations in G6pd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01118:G6pd2 APN 5 61810063 missense probably benign
IGL01329:G6pd2 APN 5 61809938 missense probably damaging 1.00
IGL02072:G6pd2 APN 5 61809410 missense probably damaging 1.00
IGL02800:G6pd2 APN 5 61809392 missense probably damaging 1.00
IGL03012:G6pd2 APN 5 61809473 missense probably damaging 1.00
IGL03085:G6pd2 APN 5 61810302 missense probably benign
R0505:G6pd2 UTSW 5 61809567 missense probably benign
R0632:G6pd2 UTSW 5 61810171 missense probably benign
R0658:G6pd2 UTSW 5 61809674 missense probably damaging 1.00
R1399:G6pd2 UTSW 5 61810018 missense probably benign 0.02
R1918:G6pd2 UTSW 5 61810321 missense probably benign
R2077:G6pd2 UTSW 5 61810251 missense probably damaging 0.97
R2338:G6pd2 UTSW 5 61810008 missense probably benign
R2566:G6pd2 UTSW 5 61808987 missense probably damaging 1.00
R2918:G6pd2 UTSW 5 61809526 missense probably damaging 1.00
R3963:G6pd2 UTSW 5 61808885 start codon destroyed probably null 0.50
R4399:G6pd2 UTSW 5 61810173 missense probably benign 0.01
R4469:G6pd2 UTSW 5 61808945 missense probably benign
R4560:G6pd2 UTSW 5 61810343 missense possibly damaging 0.95
R4563:G6pd2 UTSW 5 61810343 missense possibly damaging 0.95
R4914:G6pd2 UTSW 5 61810329 nonsense probably null
R5106:G6pd2 UTSW 5 61810352 missense probably benign
R5242:G6pd2 UTSW 5 61809442 missense probably benign 0.00
R5838:G6pd2 UTSW 5 61809225 missense probably benign
R6131:G6pd2 UTSW 5 61809250 missense probably benign 0.03
R6200:G6pd2 UTSW 5 61809871 missense probably benign 0.00
R7009:G6pd2 UTSW 5 61808891 missense probably benign 0.00
R7337:G6pd2 UTSW 5 61810219 missense probably benign 0.13
Posted On2015-04-16