Incidental Mutation 'R1581:H6pd'
ID 171388
Institutional Source Beutler Lab
Gene Symbol H6pd
Ensembl Gene ENSMUSG00000028980
Gene Name hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
Synonyms Gpd1, G6pd1, Gpd-1
MMRRC Submission 039618-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R1581 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 150063932-150093480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 150066971 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 472 (I472F)
Ref Sequence ENSEMBL: ENSMUSP00000081134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030830] [ENSMUST00000084117]
AlphaFold Q8CFX1
Predicted Effect possibly damaging
Transcript: ENSMUST00000030830
AA Change: I480F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: I480F

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 possibly damaging
Transcript: ENSMUST00000084117
AA Change: I472F

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: I472F

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: 99.1%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.6%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,063,347 (GRCm39) E447G probably benign Het
Actn4 T C 7: 28,598,071 (GRCm39) T510A probably benign Het
Adgrb3 A G 1: 25,133,153 (GRCm39) M1311T possibly damaging Het
Arfgef1 C T 1: 10,270,103 (GRCm39) A349T probably benign Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
Bicdl1 G T 5: 115,789,326 (GRCm39) probably benign Het
Bmyc T C 2: 25,597,346 (GRCm39) S137P probably damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Casc3 C T 11: 98,713,644 (GRCm39) T292I possibly damaging Het
Chmp7 C T 14: 69,956,899 (GRCm39) M336I probably benign Het
Cibar1 T A 4: 12,155,745 (GRCm39) probably null Het
Cnnm2 A G 19: 46,751,562 (GRCm39) T451A probably damaging Het
Eed T C 7: 89,629,676 (GRCm39) K20E possibly damaging Het
Eps15 T A 4: 109,220,383 (GRCm39) M180K probably benign Het
Esr1 T C 10: 4,947,905 (GRCm39) I486T probably damaging Het
Etnppl A G 3: 130,422,393 (GRCm39) I207V possibly damaging Het
Fancg G A 4: 43,007,039 (GRCm39) P246L probably damaging Het
Fcrl1 G A 3: 87,293,030 (GRCm39) C249Y possibly damaging Het
Foxred2 A G 15: 77,839,961 (GRCm39) F110L possibly damaging Het
Fsip2 A T 2: 82,816,626 (GRCm39) N4120Y probably damaging Het
Gm4884 C T 7: 40,693,255 (GRCm39) S408L probably benign Het
Gm9476 T C 10: 100,142,474 (GRCm39) noncoding transcript Het
Gria1 T C 11: 57,127,836 (GRCm39) probably null Het
Hydin A T 8: 111,137,092 (GRCm39) M632L probably benign Het
Hyou1 C T 9: 44,300,167 (GRCm39) P819S probably damaging Het
Il6st A G 13: 112,618,075 (GRCm39) E163G probably damaging Het
Kcnk1 T C 8: 126,722,278 (GRCm39) V27A possibly damaging Het
Kdelr3 T C 15: 79,407,114 (GRCm39) probably null Het
Klk1b22 A G 7: 43,765,399 (GRCm39) N117S possibly damaging Het
Klrh1 T C 6: 129,752,796 (GRCm39) D3G probably benign Het
Lpp C A 16: 24,500,591 (GRCm39) C134* probably null Het
Lrrc37a G A 11: 103,347,843 (GRCm39) R2951* probably null Het
Luzp2 T A 7: 54,899,238 (GRCm39) D285E possibly damaging Het
Ly75 C T 2: 60,158,237 (GRCm39) R1016H probably damaging Het
Mesp2 T A 7: 79,462,289 (GRCm39) S282T possibly damaging Het
Nav3 T C 10: 109,659,289 (GRCm39) D776G probably damaging Het
Nr2e1 T C 10: 42,443,964 (GRCm39) T253A probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or1r1 A T 11: 73,875,347 (GRCm39) L29H probably damaging Het
Padi6 T C 4: 140,463,147 (GRCm39) Y146C probably damaging Het
Pank4 C T 4: 155,059,108 (GRCm39) R414W probably damaging Het
Pclo T G 5: 14,571,296 (GRCm39) I227S probably benign Het
Plppr4 A G 3: 117,121,915 (GRCm39) V221A possibly damaging Het
Pradc1 G A 6: 85,425,568 (GRCm39) R25C probably damaging Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rnd2 A G 11: 101,362,022 (GRCm39) T192A probably benign Het
Rtbdn A G 8: 85,681,695 (GRCm39) E131G probably benign Het
Ryr2 A G 13: 11,809,449 (GRCm39) V792A probably benign Het
Sacs G T 14: 61,451,128 (GRCm39) Q4391H probably damaging Het
Scd2 A G 19: 44,286,538 (GRCm39) S123G probably benign Het
Septin9 A G 11: 117,181,421 (GRCm39) R74G probably damaging Het
Sipa1l2 T A 8: 126,218,356 (GRCm39) Q327L probably damaging Het
Skor1 T C 9: 63,053,505 (GRCm39) T127A probably damaging Het
Sphk2 A G 7: 45,362,920 (GRCm39) V57A probably damaging Het
Tfec A T 6: 16,844,243 (GRCm39) D101E probably damaging Het
Tmem43 T A 6: 91,455,717 (GRCm39) H109Q probably benign Het
Tmem67 C A 4: 12,047,814 (GRCm39) S839I probably damaging Het
Trpv5 T C 6: 41,630,074 (GRCm39) Y672C probably damaging Het
Ttc39d A C 17: 80,523,913 (GRCm39) S191R probably benign Het
Ttll1 C T 15: 83,380,478 (GRCm39) V296M probably damaging Het
Upp2 A C 2: 58,664,177 (GRCm39) K130T possibly damaging Het
Vmn2r5 A G 3: 64,398,640 (GRCm39) C780R probably damaging Het
Wars1 C A 12: 108,841,635 (GRCm39) E171* probably null Het
Zeb2 A T 2: 44,887,012 (GRCm39) S637T probably damaging Het
Zfp27 T A 7: 29,595,549 (GRCm39) T139S possibly damaging Het
Zfp941 A T 7: 140,392,033 (GRCm39) L442Q probably benign 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
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
R6476:H6pd UTSW 4 150,067,184 (GRCm39) missense probably damaging 0.99
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'- AACTTGCCGAAGTGCCGTACTG -3'
(R):5'- TCAGCCGGAACCTGTTCAAACC -3'

Sequencing Primer
(F):5'- AATCAGTGGGCTCTGTCTATAC -3'
(R):5'- GGAACCTGTTCAAACCCTCAC -3'
Posted On 2014-04-13