Incidental Mutation 'R6476:H6pd'
ID 516775
Institutional Source Beutler Lab
Gene Symbol H6pd
Ensembl Gene ENSMUSG00000028980
Gene Name hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Synonyms Gpd1, G6pd1, Gpd-1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R6476 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 150063932-150093480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 150067184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 401 (H401Y)
Ref Sequence ENSEMBL: ENSMUSP00000081134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030830] [ENSMUST00000084117]
AlphaFold Q8CFX1
Predicted Effect probably damaging
Transcript: ENSMUST00000030830
AA Change: H409Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: H409Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:G6PD_N 34 218 1.6e-41 PFAM
Pfam:G6PD_C 220 523 3.2e-58 PFAM
Pfam:Glucosamine_iso 564 788 8.2e-66 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084117
AA Change: H401Y

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: H401Y

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:G6PD_N 26 210 8.6e-39 PFAM
Pfam:G6PD_C 212 387 3.6e-42 PFAM
Pfam:Glucosamine_iso 561 758 9.9e-62 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show enlarged adrenal glands, reduced plasma corticosterone levels and altered 11 beta-hydroxysteroid dehydrogenase type 1 enzyme activity. Treatment with 11-dehydrocorticosterone fails to inhibit glucose-stimulatedinsulin secretion in pancreatic islets. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
a T C 2: 154,892,699 (GRCm39) V126A probably benign Het
Adamts20 T C 15: 94,259,691 (GRCm39) Q336R probably benign Het
Ankrd36 A G 11: 5,578,753 (GRCm39) T6A probably benign Het
Arhgap33 A G 7: 30,223,837 (GRCm39) S731P probably damaging Het
Arhgef10l G C 4: 140,338,693 (GRCm39) P23R probably damaging Het
Atf7 T C 15: 102,502,147 (GRCm39) D3G probably benign Het
Caps2 A G 10: 112,011,465 (GRCm39) T30A possibly damaging Het
Ccdc15 A T 9: 37,253,715 (GRCm39) I191N probably benign Het
Cep170 A T 1: 176,607,917 (GRCm39) S180T possibly damaging Het
Chd1 G A 17: 17,601,250 (GRCm39) probably null Het
Col6a3 A T 1: 90,709,534 (GRCm39) N1887K unknown Het
Csgalnact1 C T 8: 68,913,761 (GRCm39) S148N probably damaging Het
Csgalnact1 T A 8: 68,913,762 (GRCm39) S148C probably damaging Het
Dnah14 A G 1: 181,572,333 (GRCm39) E2888G probably benign Het
Dnah7b T A 1: 46,281,364 (GRCm39) Y2808* probably null Het
Dock10 A C 1: 80,518,959 (GRCm39) L1254* probably null Het
Eml2 T C 7: 18,930,236 (GRCm39) V511A probably benign Het
Eml6 A G 11: 29,741,971 (GRCm39) probably null Het
Erbin C A 13: 103,977,755 (GRCm39) D601Y probably damaging Het
Farsa A G 8: 85,583,809 (GRCm39) E49G probably damaging Het
Fzd7 A G 1: 59,523,154 (GRCm39) M346V probably damaging Het
Gatd3a T C 10: 78,003,347 (GRCm39) N102D probably damaging Het
Glg1 A C 8: 111,926,806 (GRCm39) S170A possibly damaging Het
Gpx3 A T 11: 54,798,025 (GRCm39) I54F probably damaging Het
Hspb8 A G 5: 116,560,457 (GRCm39) S28P probably damaging Het
Iqub T A 6: 24,449,744 (GRCm39) N707I probably damaging Het
Krt9 A T 11: 100,081,640 (GRCm39) D296E probably damaging Het
Lcor C T 19: 41,571,518 (GRCm39) T237I probably benign Het
Lnx1 A G 5: 74,768,541 (GRCm39) V349A possibly damaging Het
Map3k6 A T 4: 132,977,397 (GRCm39) S915C probably damaging Het
Mecom C A 3: 30,034,717 (GRCm39) A510S possibly damaging Het
Mettl14 A G 3: 123,167,686 (GRCm39) I224T probably damaging Het
Mme T C 3: 63,251,056 (GRCm39) probably null Het
Nbea T A 3: 55,912,227 (GRCm39) T1187S probably benign Het
Ndor1 T C 2: 25,138,154 (GRCm39) T444A possibly damaging Het
Nhlrc1 A G 13: 47,167,657 (GRCm39) L200P possibly damaging Het
Npc1 G T 18: 12,334,751 (GRCm39) S667* probably null Het
Nscme3l A C 19: 5,553,253 (GRCm39) I176S probably damaging Het
Or14a256 C T 7: 86,265,218 (GRCm39) V212I probably benign Het
Or1l8 T A 2: 36,817,595 (GRCm39) H177L possibly damaging Het
Or4c109 T A 2: 88,817,721 (GRCm39) D275V probably benign Het
Or51d1 T A 7: 102,348,310 (GRCm39) N288K possibly damaging Het
Or5g9 T A 2: 85,551,928 (GRCm39) Y60N probably damaging Het
Pds5a A C 5: 65,791,630 (GRCm39) I773R possibly damaging Het
Pgr T A 9: 8,964,839 (GRCm39) probably null Het
Plscr4 A T 9: 92,372,819 (GRCm39) M314L probably benign Het
Polr2m A G 9: 71,390,752 (GRCm39) V46A probably benign Het
Ptk2b T A 14: 66,424,923 (GRCm39) M174L possibly damaging Het
Sec31a A T 5: 100,534,008 (GRCm39) F521I probably benign Het
Serpinb3d T C 1: 107,011,071 (GRCm39) N47S probably benign Het
Shld2 T C 14: 33,989,971 (GRCm39) S312G probably benign Het
Slc24a3 T A 2: 145,448,750 (GRCm39) D431E probably benign Het
Slc34a1 C A 13: 23,996,569 (GRCm39) H25N probably damaging Het
Slc9a9 T C 9: 94,567,191 (GRCm39) F87L probably benign Het
Spata31 T A 13: 65,065,456 (GRCm39) S54T possibly damaging Het
Spata6 T C 4: 111,632,020 (GRCm39) S144P probably damaging Het
Sppl2c A G 11: 104,077,595 (GRCm39) N132D probably benign Het
Ssu2 C T 6: 112,351,793 (GRCm39) G311S probably damaging Het
Syne1 T A 10: 5,104,531 (GRCm39) Q6328L possibly damaging Het
Tie1 T C 4: 118,330,062 (GRCm39) T1054A possibly damaging Het
Tnfaip6 T G 2: 51,942,328 (GRCm39) D212E probably benign Het
Tnxb A G 17: 34,909,166 (GRCm39) T1442A probably damaging Het
Trim35 C T 14: 66,546,244 (GRCm39) T337M probably damaging Het
Vipr1 T C 9: 121,498,489 (GRCm39) V413A probably benign Het
Vmn1r19 C G 6: 57,381,578 (GRCm39) Q44E probably damaging Het
Zfp1002 T C 2: 150,097,246 (GRCm39) D61G probably benign Het
Zfp266 G T 9: 20,410,577 (GRCm39) H533Q probably damaging Het
Zfp689 T C 7: 127,043,896 (GRCm39) S245G probably damaging Het
Other mutations in H6pd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:H6pd APN 4 150,078,925 (GRCm39) critical splice donor site probably null
IGL01450:H6pd APN 4 150,068,575 (GRCm39) missense probably damaging 1.00
IGL01913:H6pd APN 4 150,078,920 (GRCm39) unclassified probably benign
IGL01914:H6pd APN 4 150,078,920 (GRCm39) unclassified probably benign
dryer UTSW 4 150,067,322 (GRCm39) missense probably damaging 1.00
herr UTSW 4 150,068,359 (GRCm39) critical splice donor site probably null
G1patch:H6pd UTSW 4 150,080,815 (GRCm39) missense probably damaging 1.00
R0402:H6pd UTSW 4 150,080,773 (GRCm39) missense probably damaging 1.00
R0486:H6pd UTSW 4 150,067,393 (GRCm39) splice site probably benign
R0548:H6pd UTSW 4 150,066,073 (GRCm39) missense probably damaging 1.00
R0690:H6pd UTSW 4 150,067,030 (GRCm39) missense possibly damaging 0.93
R1165:H6pd UTSW 4 150,080,413 (GRCm39) missense possibly damaging 0.95
R1298:H6pd UTSW 4 150,066,971 (GRCm39) missense probably benign 0.01
R1331:H6pd UTSW 4 150,066,872 (GRCm39) missense probably benign 0.28
R1581:H6pd UTSW 4 150,066,971 (GRCm39) missense possibly damaging 0.94
R1781:H6pd UTSW 4 150,080,388 (GRCm39) missense probably damaging 1.00
R1791:H6pd UTSW 4 150,066,130 (GRCm39) missense probably damaging 0.97
R1840:H6pd UTSW 4 150,066,507 (GRCm39) missense possibly damaging 0.55
R2290:H6pd UTSW 4 150,066,338 (GRCm39) missense probably damaging 1.00
R3889:H6pd UTSW 4 150,080,230 (GRCm39) missense possibly damaging 0.67
R4432:H6pd UTSW 4 150,080,215 (GRCm39) missense probably damaging 1.00
R4576:H6pd UTSW 4 150,078,933 (GRCm39) missense probably damaging 0.99
R4629:H6pd UTSW 4 150,080,803 (GRCm39) missense probably benign 0.10
R4856:H6pd UTSW 4 150,067,235 (GRCm39) missense possibly damaging 0.47
R4886:H6pd UTSW 4 150,067,235 (GRCm39) missense possibly damaging 0.47
R4951:H6pd UTSW 4 150,066,044 (GRCm39) missense probably damaging 1.00
R5124:H6pd UTSW 4 150,066,512 (GRCm39) missense possibly damaging 0.57
R5337:H6pd UTSW 4 150,066,241 (GRCm39) missense probably benign 0.02
R5408:H6pd UTSW 4 150,067,322 (GRCm39) missense probably damaging 1.00
R5474:H6pd UTSW 4 150,080,546 (GRCm39) missense probably damaging 1.00
R6266:H6pd UTSW 4 150,080,414 (GRCm39) missense probably benign 0.32
R6725:H6pd UTSW 4 150,080,815 (GRCm39) missense probably damaging 1.00
R6733:H6pd UTSW 4 150,069,578 (GRCm39) splice site probably null
R6785:H6pd UTSW 4 150,067,247 (GRCm39) missense possibly damaging 0.50
R6853:H6pd UTSW 4 150,066,919 (GRCm39) missense probably benign 0.00
R6921:H6pd UTSW 4 150,066,508 (GRCm39) missense probably damaging 0.99
R7258:H6pd UTSW 4 150,080,819 (GRCm39) missense probably benign 0.09
R7269:H6pd UTSW 4 150,067,369 (GRCm39) missense probably benign 0.00
R7326:H6pd UTSW 4 150,080,807 (GRCm39) missense probably benign 0.00
R7348:H6pd UTSW 4 150,068,359 (GRCm39) critical splice donor site probably null
R7488:H6pd UTSW 4 150,067,093 (GRCm39) missense probably benign
R7512:H6pd UTSW 4 150,080,405 (GRCm39) missense probably benign 0.00
R7684:H6pd UTSW 4 150,080,519 (GRCm39) missense probably benign
R7704:H6pd UTSW 4 150,067,360 (GRCm39) missense probably benign 0.45
R7954:H6pd UTSW 4 150,067,283 (GRCm39) missense probably benign
R8226:H6pd UTSW 4 150,080,446 (GRCm39) missense probably benign 0.02
R8420:H6pd UTSW 4 150,066,133 (GRCm39) missense probably benign 0.01
R8757:H6pd UTSW 4 150,066,758 (GRCm39) missense probably benign 0.05
R8759:H6pd UTSW 4 150,066,758 (GRCm39) missense probably benign 0.05
R9275:H6pd UTSW 4 150,080,307 (GRCm39) missense probably damaging 1.00
R9278:H6pd UTSW 4 150,080,307 (GRCm39) missense probably damaging 1.00
R9400:H6pd UTSW 4 150,080,248 (GRCm39) missense probably damaging 1.00
R9491:H6pd UTSW 4 150,080,366 (GRCm39) missense probably benign 0.18
R9520:H6pd UTSW 4 150,080,375 (GRCm39) missense possibly damaging 0.79
X0020:H6pd UTSW 4 150,067,255 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTTTCGGCAGTGGAAGATGTG -3'
(R):5'- AGGTGTCCTTGTCCACATCG -3'

Sequencing Primer
(F):5'- CAGTGGAAGATGTGCGACAG -3'
(R):5'- ATCGACAACCTGCGCTG -3'
Posted On 2018-05-21