Incidental Mutation 'IGL01118:G6pd2'
ID 51137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol G6pd2
Ensembl Gene ENSMUSG00000089992
Gene Name glucose-6-phosphate dehydrogenase 2
Synonyms G6pdx-ps1, Gpd-2, Gpd2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01118
Quality Score
Status
Chromosome 5
Chromosomal Location 61966186-61967820 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 61967406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 394 (M394L)
Ref Sequence ENSEMBL: ENSMUSP00000131163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053876]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000053876
AA Change: M394L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: M394L

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik C T 3: 124,195,058 (GRCm39) R539Q probably benign Het
Abcb1a G A 5: 8,724,687 (GRCm39) R40H probably damaging Het
Acan T A 7: 78,748,401 (GRCm39) S1057R possibly damaging Het
Ahnak A T 19: 8,989,942 (GRCm39) D3742V probably damaging Het
Amdhd1 A T 10: 93,367,430 (GRCm39) D241E probably benign Het
Cntn5 T C 9: 9,831,565 (GRCm39) Y605C possibly damaging Het
Dnmt3l T C 10: 77,893,120 (GRCm39) F299S probably damaging Het
Eif1ad19 T A 12: 87,740,212 (GRCm39) N116Y probably damaging Het
Ess2 A T 16: 17,720,796 (GRCm39) I350N probably damaging Het
Gm9839 A T 1: 32,558,924 (GRCm39) M386K probably benign Het
Gtf2h3 T C 5: 124,733,731 (GRCm39) V268A probably damaging Het
Hgs T C 11: 120,366,040 (GRCm39) V195A probably damaging Het
Igkv3-2 A T 6: 70,675,978 (GRCm39) S96C probably damaging Het
Mgl2 A G 11: 70,025,015 (GRCm39) E12G probably benign Het
Mup11 A T 4: 60,615,779 (GRCm39) F153I probably damaging Het
Nf1 T A 11: 79,437,812 (GRCm39) C2057S probably damaging Het
Nkrf A G X: 36,152,410 (GRCm39) F624S probably damaging Het
Noto T C 6: 85,401,192 (GRCm39) S74P probably benign Het
Or8k40 A G 2: 86,584,314 (GRCm39) I256T probably benign Het
Pax8 T C 2: 24,332,944 (GRCm39) probably benign Het
Psg28 A T 7: 18,162,017 (GRCm39) V162D probably damaging Het
Rai1 T C 11: 60,078,264 (GRCm39) F776S probably damaging Het
Taar8a A T 10: 23,952,759 (GRCm39) H121L probably damaging Het
Tas2r113 A G 6: 132,870,278 (GRCm39) N102S probably benign Het
Trpm1 A G 7: 63,885,572 (GRCm39) T863A probably benign Het
Ttf2 A G 3: 100,874,413 (GRCm39) probably benign Het
Wdr62 T C 7: 29,942,206 (GRCm39) H611R probably damaging Het
Wdr90 A T 17: 26,073,661 (GRCm39) L762Q probably damaging Het
Yeats2 T G 16: 20,005,054 (GRCm39) S364A probably damaging Het
Zdhhc15 G T X: 103,641,712 (GRCm39) Q82K probably benign Het
Other mutations in G6pd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01329:G6pd2 APN 5 61,967,281 (GRCm39) missense probably damaging 1.00
IGL02072:G6pd2 APN 5 61,966,753 (GRCm39) missense probably damaging 1.00
IGL02502:G6pd2 APN 5 61,966,971 (GRCm39) missense probably damaging 1.00
IGL02800:G6pd2 APN 5 61,966,735 (GRCm39) missense probably damaging 1.00
IGL03012:G6pd2 APN 5 61,966,816 (GRCm39) missense probably damaging 1.00
IGL03085:G6pd2 APN 5 61,967,645 (GRCm39) missense probably benign
R0505:G6pd2 UTSW 5 61,966,910 (GRCm39) missense probably benign
R0632:G6pd2 UTSW 5 61,967,514 (GRCm39) missense probably benign
R0658:G6pd2 UTSW 5 61,967,017 (GRCm39) missense probably damaging 1.00
R1399:G6pd2 UTSW 5 61,967,361 (GRCm39) missense probably benign 0.02
R1918:G6pd2 UTSW 5 61,967,664 (GRCm39) missense probably benign
R2077:G6pd2 UTSW 5 61,967,594 (GRCm39) missense probably damaging 0.97
R2338:G6pd2 UTSW 5 61,967,351 (GRCm39) missense probably benign
R2566:G6pd2 UTSW 5 61,966,330 (GRCm39) missense probably damaging 1.00
R2918:G6pd2 UTSW 5 61,966,869 (GRCm39) missense probably damaging 1.00
R3963:G6pd2 UTSW 5 61,966,228 (GRCm39) start codon destroyed probably null 0.50
R4399:G6pd2 UTSW 5 61,967,516 (GRCm39) missense probably benign 0.01
R4469:G6pd2 UTSW 5 61,966,288 (GRCm39) missense probably benign
R4560:G6pd2 UTSW 5 61,967,686 (GRCm39) missense possibly damaging 0.95
R4563:G6pd2 UTSW 5 61,967,686 (GRCm39) missense possibly damaging 0.95
R4914:G6pd2 UTSW 5 61,967,672 (GRCm39) nonsense probably null
R5106:G6pd2 UTSW 5 61,967,695 (GRCm39) missense probably benign
R5242:G6pd2 UTSW 5 61,966,785 (GRCm39) missense probably benign 0.00
R5838:G6pd2 UTSW 5 61,966,568 (GRCm39) missense probably benign
R6131:G6pd2 UTSW 5 61,966,593 (GRCm39) missense probably benign 0.03
R6200:G6pd2 UTSW 5 61,967,214 (GRCm39) missense probably benign 0.00
R7009:G6pd2 UTSW 5 61,966,234 (GRCm39) missense probably benign 0.00
R7337:G6pd2 UTSW 5 61,967,562 (GRCm39) missense probably benign 0.13
R9694:G6pd2 UTSW 5 61,966,460 (GRCm39) missense probably benign
Posted On 2013-06-21