Incidental Mutation 'R4576:H6pd'
ID 342452
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 041799-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.112) question?
Stock # R4576 (G1)
Quality Score 207
Status Validated
Chromosome 4
Chromosomal Location 150063932-150093480 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 150078933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 243 (D243E)
Ref Sequence ENSEMBL: ENSMUSP00000081134 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030830] [ENSMUST00000084117] [ENSMUST00000153394]
AlphaFold Q8CFX1
Predicted Effect probably damaging
Transcript: ENSMUST00000030830
AA Change: D251E

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: D251E

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: D243E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: D243E

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
SMART Domains Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:G6PD_N 26 172 5e-21 PFAM
Meta Mutation Damage Score 0.6414 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (84/86)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,623,979 (GRCm39) D160V probably damaging Het
Ano9 T C 7: 140,684,051 (GRCm39) Q538R probably damaging Het
Atp4a A G 7: 30,417,147 (GRCm39) D510G probably benign Het
Atp8a1 T C 5: 67,973,158 (GRCm39) probably benign Het
Auts2 C T 5: 132,287,773 (GRCm39) G70E probably benign Het
C7 A G 15: 5,032,238 (GRCm39) S658P probably damaging Het
Cdh9 T C 15: 16,832,325 (GRCm39) V404A possibly damaging Het
Cfap54 C T 10: 92,879,090 (GRCm39) probably null Het
Chml G T 1: 175,514,506 (GRCm39) Q129K probably damaging Het
Chst2 T C 9: 95,287,224 (GRCm39) H374R probably damaging Het
Cimip2a T C 2: 25,110,300 (GRCm39) S71P probably benign Het
Cirbp A G 10: 80,006,075 (GRCm39) K84E probably damaging Het
Cln6 G T 9: 62,746,231 (GRCm39) Q23H probably benign Het
Cntn5 A G 9: 9,673,297 (GRCm39) M801T probably benign Het
Dapk1 A T 13: 60,869,636 (GRCm39) M293L probably benign Het
Ddx11 A G 17: 66,457,721 (GRCm39) K869E probably damaging Het
Ddx17 A T 15: 79,425,347 (GRCm39) M108K probably benign Het
Dnaaf5 C A 5: 139,171,394 (GRCm39) A557D probably damaging Het
Ecpas A T 4: 58,834,708 (GRCm39) probably benign Het
Edil3 T C 13: 89,467,850 (GRCm39) Y452H probably damaging Het
Elfn1 T C 5: 139,957,808 (GRCm39) S271P probably benign Het
Enah G A 1: 181,747,128 (GRCm39) S298L possibly damaging Het
Exoc7 T C 11: 116,180,009 (GRCm39) *685W probably null Het
Fgfbp1 C T 5: 44,136,806 (GRCm39) R162H probably benign Het
Foxj3 A G 4: 119,478,860 (GRCm39) S439G unknown Het
Fzd9 A G 5: 135,279,166 (GRCm39) S240P probably damaging Het
Gin1 A G 1: 97,720,064 (GRCm39) D442G probably damaging Het
Gm10804 C T 2: 93,299,014 (GRCm39) noncoding transcript Het
Grhl3 G T 4: 135,288,562 (GRCm39) T41K probably damaging Het
Heatr6 T A 11: 83,655,826 (GRCm39) S306T probably benign Het
Hkdc1 T C 10: 62,221,622 (GRCm39) D812G possibly damaging Het
Hmcn1 G T 1: 150,610,238 (GRCm39) T1477K probably benign Het
Ift80 A G 3: 68,857,863 (GRCm39) S261P possibly damaging Het
Kcnu1 A T 8: 26,380,048 (GRCm39) D424V probably benign Het
Kctd1 A G 18: 15,140,757 (GRCm39) S658P probably damaging Het
Klk12 A G 7: 43,422,667 (GRCm39) D198G probably damaging Het
Kntc1 T G 5: 123,904,018 (GRCm39) L345R probably damaging Het
Llph-ps2 A G X: 13,084,690 (GRCm39) noncoding transcript Het
Lpxn T C 19: 12,810,654 (GRCm39) I366T probably benign Het
Lrp1 ACAGGCGC AC 10: 127,376,057 (GRCm39) probably benign Het
Maml3 G A 3: 51,763,927 (GRCm39) Q346* probably null Het
Mef2a T C 7: 66,890,187 (GRCm39) N131S probably benign Het
Mlc1 G A 15: 88,858,740 (GRCm39) T136M probably damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Pcdhga9 A C 18: 37,870,881 (GRCm39) N237H probably damaging Het
Pde4dip C A 3: 97,661,565 (GRCm39) E657D probably damaging Het
Pknox2 A G 9: 36,834,844 (GRCm39) probably benign Het
Plcb3 C T 19: 6,936,415 (GRCm39) probably benign Het
Plxnd1 G A 6: 115,945,005 (GRCm39) A99V probably benign Het
Pnpla2 T C 7: 141,037,257 (GRCm39) S87P probably damaging Het
Ppp1r14c G T 10: 3,316,912 (GRCm39) K82N probably damaging Het
Pum3 G A 19: 27,393,308 (GRCm39) T389M probably benign Het
Pxdn A T 12: 30,061,922 (GRCm39) T1165S probably benign Het
Rasgrf2 T C 13: 92,044,529 (GRCm39) D925G possibly damaging Het
Samhd1 A T 2: 156,943,670 (GRCm39) C615S probably damaging Het
Sec16a A T 2: 26,321,131 (GRCm39) Y1320* probably null Het
Slco6b1 T A 1: 96,916,422 (GRCm39) noncoding transcript Het
Slitrk6 C A 14: 110,987,602 (GRCm39) V702F probably benign Het
Spata31d1b C A 13: 59,864,675 (GRCm39) H608N probably damaging Het
Spef1l A G 7: 139,558,043 (GRCm39) I51T probably damaging Het
Srpra T C 9: 35,125,904 (GRCm39) I394T possibly damaging Het
Svop C T 5: 114,203,743 (GRCm39) V13M probably damaging Het
Tacc3 T A 5: 33,818,841 (GRCm39) probably benign Het
Tango2 A T 16: 18,119,392 (GRCm39) D146E probably damaging Het
Thbs1 G A 2: 117,949,897 (GRCm39) R624Q probably damaging Het
Tmem161a T C 8: 70,634,713 (GRCm39) probably null Het
Tmem175 A G 5: 108,792,468 (GRCm39) D248G possibly damaging Het
Traf3ip2 A G 10: 39,510,650 (GRCm39) N308D probably damaging Het
Trim30b T C 7: 104,006,538 (GRCm39) Y106C possibly damaging Het
Trip11 G A 12: 101,852,499 (GRCm39) Q521* probably null Het
Tssk5 C T 15: 76,256,668 (GRCm39) R280Q probably benign Het
Ttc16 A T 2: 32,660,071 (GRCm39) F246I probably benign Het
Unc79 T C 12: 102,968,062 (GRCm39) probably benign Het
Vmn1r74 A G 7: 11,580,696 (GRCm39) probably null Het
Vmn2r16 A T 5: 109,511,665 (GRCm39) Y624F possibly damaging Het
Zc3h4 G A 7: 16,168,579 (GRCm39) R896H unknown Het
Zfp941 T A 7: 140,391,503 (GRCm39) K619* probably null Het
Zfp970 A T 2: 177,167,473 (GRCm39) H349L 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
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'- TTACCACTAGACACCCTGCG -3'
(R):5'- TAGGAGCCATTGTCCACAGAG -3'

Sequencing Primer
(F):5'- ACTAGACACCCTGCGGATTG -3'
(R):5'- GCCATTGTCCACAGAGTGTTTTTAAG -3'
Posted On 2015-09-24