Incidental Mutation 'R7684:H6pd'
ID 592927
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 067780-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R7684 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 150063932-150093480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 150080519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 109 (Q109K)
Ref Sequence ENSEMBL: ENSMUSP00000030830 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030830] [ENSMUST00000084117] [ENSMUST00000153394]
AlphaFold Q8CFX1
Predicted Effect probably benign
Transcript: ENSMUST00000030830
AA Change: Q109K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: Q109K

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 benign
Transcript: ENSMUST00000084117
AA Change: Q101K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: Q101K

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
Predicted Effect probably benign
Transcript: ENSMUST00000153394
AA Change: Q101K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980
AA Change: Q101K

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:G6PD_N 26 172 5e-21 PFAM
Meta Mutation Damage Score 0.0721 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (73/73)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik A T 13: 77,760,659 (GRCm39) K1239* probably null Het
Abhd6 T C 14: 8,039,807 (GRCm38) F60S probably damaging Het
Adam6b G A 12: 113,455,196 (GRCm39) W671* probably null Het
Ankrd36 A G 11: 5,520,113 (GRCm39) T63A possibly damaging Het
Arhgef16 A G 4: 154,366,285 (GRCm39) V494A possibly damaging Het
Arhgef7 T A 8: 11,869,663 (GRCm39) M659K probably benign Het
Cacna1h A G 17: 25,608,346 (GRCm39) Y854H probably damaging Het
Chd3 A T 11: 69,248,692 (GRCm39) F780I possibly damaging Het
Cldn8 A G 16: 88,359,335 (GRCm39) Y197H probably damaging Het
Cpne8 A T 15: 90,533,450 (GRCm39) D58E probably damaging Het
Cul9 T G 17: 46,820,815 (GRCm39) Y1954S probably damaging Het
Cyp4a10 T A 4: 115,375,549 (GRCm39) F11I probably benign Het
Cysrt1 A T 2: 25,129,094 (GRCm39) C139* probably null Het
Dnajc16 A G 4: 141,501,879 (GRCm39) V317A probably benign Het
Dnmt3a T C 12: 3,947,340 (GRCm39) V437A probably benign Het
Dok5 T C 2: 170,683,344 (GRCm39) C202R probably damaging Het
Dusp11 T A 6: 85,927,542 (GRCm39) R164S probably damaging Het
Dysf T C 6: 84,077,117 (GRCm39) S648P probably benign Het
Egfem1 A T 3: 29,744,334 (GRCm39) R581S probably damaging Het
Enpep A G 3: 129,115,094 (GRCm39) F226S probably damaging Het
Ep400 A G 5: 110,845,218 (GRCm39) I1541T unknown Het
Exd1 A G 2: 119,350,684 (GRCm39) S526P probably damaging Het
Fam118a A G 15: 84,942,982 (GRCm39) E337G possibly damaging Het
Fam20b T C 1: 156,518,215 (GRCm39) N193S probably benign Het
Fat3 A G 9: 15,899,564 (GRCm39) probably null Het
Flg2 T C 3: 93,126,956 (GRCm39) V1956A unknown Het
Fzd10 A G 5: 128,678,480 (GRCm39) I67V possibly damaging Het
Gckr A T 5: 31,465,141 (GRCm39) D370V probably damaging Het
Gm8797 A T 3: 5,816,148 (GRCm39) Q62L probably benign Het
Higd1a T C 9: 121,679,322 (GRCm39) K55R possibly damaging Het
Il1b C T 2: 129,209,277 (GRCm39) V118I probably benign Het
Insr T C 8: 3,219,753 (GRCm39) N923S possibly damaging Het
Krit1 A G 5: 3,880,723 (GRCm39) I561V possibly damaging Het
Lamc2 T C 1: 153,002,771 (GRCm39) D1070G probably null Het
Lpcat2 T A 8: 93,635,823 (GRCm39) D408E possibly damaging Het
Mst1r T A 9: 107,788,762 (GRCm39) F427Y probably benign Het
Mtx1 A T 3: 89,117,739 (GRCm39) I258K possibly damaging Het
Nckap5 T C 1: 125,954,594 (GRCm39) T653A probably benign Het
Npas3 A T 12: 54,115,609 (GRCm39) N844Y probably damaging Het
Nrg3 A T 14: 39,194,522 (GRCm39) L79Q probably damaging Het
Nsmce1 C A 7: 125,070,348 (GRCm39) K154N probably damaging Het
Oard1 T C 17: 48,723,726 (GRCm39) L124P probably damaging Het
Or10ag57 T C 2: 87,218,372 (GRCm39) S108P probably damaging Het
Or10ak13 T C 4: 118,639,471 (GRCm39) M104V probably benign Het
Or51a10 G A 7: 103,698,667 (GRCm39) T298I probably damaging Het
Or51ah3 T C 7: 103,210,425 (GRCm39) F247S probably benign Het
Ovgp1 A T 3: 105,887,272 (GRCm39) T223S probably damaging Het
Pik3c2a A T 7: 115,987,312 (GRCm39) Y536* probably null Het
Plekho2 A T 9: 65,466,816 (GRCm39) probably null Het
Prelid3b T C 2: 174,310,210 (GRCm39) probably null Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rxfp1 T A 3: 79,578,214 (GRCm39) N159I possibly damaging Het
Sfmbt1 A G 14: 30,532,311 (GRCm39) Q557R probably damaging Het
Slc22a18 G T 7: 143,044,577 (GRCm39) V177L probably benign Het
Slc22a8 A G 19: 8,587,294 (GRCm39) I451M probably benign Het
Slc39a12 T C 2: 14,454,670 (GRCm39) S563P probably damaging Het
Snx20 T C 8: 89,353,863 (GRCm39) D289G probably benign Het
Sptb A G 12: 76,658,969 (GRCm39) Y1189H probably benign Het
Tbc1d1 T A 5: 64,473,829 (GRCm39) M784K probably benign Het
Tbkbp1 T C 11: 97,038,559 (GRCm39) probably benign Het
Tfap2b G C 1: 19,284,511 (GRCm39) D140H probably damaging Het
Thy1 G A 9: 43,957,855 (GRCm39) G13D unknown Het
Ticam1 A G 17: 56,576,984 (GRCm39) S704P unknown Het
Tmem151b A G 17: 45,857,929 (GRCm39) Y106H probably damaging Het
Trappc8 T C 18: 20,996,559 (GRCm39) N452S probably benign Het
Ttc9c A G 19: 8,789,128 (GRCm39) Y166H probably damaging Het
Txndc16 A G 14: 45,385,325 (GRCm39) V556A possibly damaging Het
Tyrp1 C A 4: 80,758,862 (GRCm39) S245Y probably damaging Het
Urb1 A T 16: 90,583,006 (GRCm39) L621* probably null Het
Wdr72 A T 9: 74,054,292 (GRCm39) T224S probably damaging Het
Zc3h18 T G 8: 123,134,165 (GRCm39) S544A unknown Het
Zfp462 T A 4: 55,008,908 (GRCm39) N291K probably benign Het
Zfp609 T C 9: 65,638,362 (GRCm39) N290S possibly damaging Het
Zfp979 A T 4: 147,697,799 (GRCm39) H303Q 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
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
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'- CAGCTGCTGTTGATGTTACG -3'
(R):5'- CATGTTTCCATAATCCTGCTGGG -3'

Sequencing Primer
(F):5'- CTGTTGATGTTACGGGCAATGTC -3'
(R):5'- GACCTAGCTAAAAAGTACCTGTGGC -3'
Posted On 2019-11-12