Mutagenetix > Incidental Mutation

Incidental Mutation 'R0690:H6pd'

61328

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

038875-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

R0690 (G1)

Quality Score

113

Status

Validated

Chromosome

Chromosomal Location

150063932-150093480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 150067030 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 452 (E452G)

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: E460G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: E460G

Domain	Start	End	E-Value	Type
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: E452G

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: E452G

Domain	Start	End	E-Value	Type
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

Meta Mutation Damage Score

0.2610

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 96.1%

Validation Efficiency

97% (87/90)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	T	A	11: 109,860,634 (GRCm39)		probably benign	Het
Abi3	T	C	11: 95,724,460 (GRCm39)		probably benign	Het
Adam2	T	C	14: 66,295,095 (GRCm39)	N250S	probably damaging	Het
Agbl4	T	A	4: 111,514,585 (GRCm39)	I532K	probably benign	Het
Agrn	T	G	4: 156,258,910 (GRCm39)	E905A	probably damaging	Het
Ahi1	A	G	10: 20,846,742 (GRCm39)		probably benign	Het
Aifm2	A	G	10: 61,562,231 (GRCm39)	N89S	probably benign	Het
Arsj	C	T	3: 126,231,833 (GRCm39)	T193I	probably damaging	Het
Ascc2	T	A	11: 4,632,933 (GRCm39)	V702E	probably damaging	Het
Avpr1b	T	C	1: 131,528,019 (GRCm39)	S181P	probably damaging	Het
Bcl7a	G	A	5: 123,490,003 (GRCm39)	V56I	possibly damaging	Het
Cd160	T	A	3: 96,713,102 (GRCm39)	D54V	probably damaging	Het
Celsr2	C	A	3: 108,322,293 (GRCm39)	R173M	probably damaging	Het
Cfap57	A	G	4: 118,426,924 (GRCm39)		probably benign	Het
Cfap69	G	A	5: 5,713,951 (GRCm39)	T27I	probably damaging	Het
Chaf1b	T	C	16: 93,696,905 (GRCm39)		probably benign	Het
Cldn8	C	T	16: 88,359,527 (GRCm39)	V133M	probably damaging	Het
Col2a1	A	T	15: 97,878,073 (GRCm39)	V954E	unknown	Het
Col6a4	T	C	9: 105,905,386 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,586,685 (GRCm39)	M1779V	probably benign	Het
Coq8b	A	G	7: 26,941,674 (GRCm39)	E253G	probably benign	Het
Ctse	T	C	1: 131,602,516 (GRCm39)		probably benign	Het
Cyp2c29	T	A	19: 39,298,170 (GRCm39)	N238K	probably benign	Het
Dcaf1	T	A	9: 106,723,848 (GRCm39)		probably benign	Het
Dcc	A	T	18: 71,942,275 (GRCm39)		probably benign	Het
Dkk1	A	G	19: 30,526,745 (GRCm39)	F12S	probably benign	Het
Dnah6	A	G	6: 73,106,457 (GRCm39)	V1760A	probably benign	Het
Fam117b	G	A	1: 59,997,512 (GRCm39)	S288N	possibly damaging	Het
Fam216a	A	T	5: 122,505,709 (GRCm39)	M110K	probably damaging	Het
Frem3	T	A	8: 81,340,581 (GRCm39)	I958N	possibly damaging	Het
Gab1	T	A	8: 81,526,745 (GRCm39)	N118Y	probably damaging	Het
Gda	T	A	19: 21,387,251 (GRCm39)	I251L	probably benign	Het
Gli2	C	A	1: 118,772,190 (GRCm39)	R505L	probably damaging	Het
Gm5093	A	T	17: 46,750,664 (GRCm39)	I121N	possibly damaging	Het
Gpnmb	C	T	6: 49,024,949 (GRCm39)	S327L	probably benign	Het
Gpr156	T	A	16: 37,812,503 (GRCm39)	Y280N	probably damaging	Het
Gria4	A	G	9: 4,427,071 (GRCm39)	Y790H	probably damaging	Het
Guf1	C	A	5: 69,723,695 (GRCm39)		probably null	Het
Herc1	T	A	9: 66,294,120 (GRCm39)	Y487*	probably null	Het
Ifi30	T	A	8: 71,217,593 (GRCm39)		probably benign	Het
Klf13	G	A	7: 63,587,819 (GRCm39)	A159V	possibly damaging	Het
Med11	T	A	11: 70,344,052 (GRCm39)	M124K	possibly damaging	Het
Myom3	A	G	4: 135,515,737 (GRCm39)		probably benign	Het
Nat2	A	T	8: 67,954,456 (GRCm39)	I189F	probably damaging	Het
Nhlrc4	C	G	17: 26,162,658 (GRCm39)	G30R	probably damaging	Het
Nkx3-2	G	A	5: 41,919,470 (GRCm39)	R173C	probably damaging	Het
Nox3	T	C	17: 3,745,839 (GRCm39)	N23S	probably damaging	Het
Npr2	A	T	4: 43,646,991 (GRCm39)	Y708F	probably damaging	Het
Nsun2	A	G	13: 69,777,661 (GRCm39)	N409S	probably benign	Het
Nucb2	T	C	7: 116,135,086 (GRCm39)		probably benign	Het
Or13a26	T	C	7: 140,284,700 (GRCm39)	F179L	possibly damaging	Het
Or5be3	A	G	2: 86,864,226 (GRCm39)	F113S	probably damaging	Het
Or8b12	T	C	9: 37,657,513 (GRCm39)	F28L	probably benign	Het
Orai2	A	T	5: 136,190,453 (GRCm39)	V52D	probably damaging	Het
Pcyox1	A	T	6: 86,371,424 (GRCm39)	M154K	probably damaging	Het
Pik3r4	C	A	9: 105,531,175 (GRCm39)	T492K	possibly damaging	Het
Pmpca	T	A	2: 26,281,109 (GRCm39)	Y150N	probably damaging	Het
Ppp1r12b	G	T	1: 134,803,820 (GRCm39)	S446R	probably damaging	Het
Ptpdc1	A	G	13: 48,740,381 (GRCm39)	I289T	probably benign	Het
Pyroxd2	A	G	19: 42,716,081 (GRCm39)		probably benign	Het
Qrfpr	G	A	3: 36,243,708 (GRCm39)	T131M	probably damaging	Het
Rab33b	A	G	3: 51,400,838 (GRCm39)	Y104C	probably damaging	Het
Rad54l	G	T	4: 115,956,947 (GRCm39)		probably benign	Het
Rad9a	A	T	19: 4,247,359 (GRCm39)		probably null	Het
Slc1a5	A	T	7: 16,520,829 (GRCm39)	M233L	probably benign	Het
Slc47a2	C	T	11: 61,233,330 (GRCm39)	V67I	possibly damaging	Het
Slco1a5	T	A	6: 142,214,004 (GRCm39)	Y39F	probably benign	Het
Slfn5	T	C	11: 82,852,229 (GRCm39)	V785A	probably damaging	Het
Sp6	C	T	11: 96,912,370 (GRCm39)	P28S	possibly damaging	Het
Sptbn5	A	G	2: 119,893,156 (GRCm39)		probably null	Het
Sry	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	ACTGCTGCTGCTGCTGCTGCTGCTGCTGCTG	Y: 2,662,944 (GRCm39)		probably benign	Het
St8sia1	A	G	6: 142,774,980 (GRCm39)	W200R	probably damaging	Het
Stxbp1	C	A	2: 32,690,707 (GRCm39)		probably benign	Het
Syne1	A	G	10: 4,983,138 (GRCm39)		probably benign	Het
Thbs3	T	A	3: 89,127,472 (GRCm39)	I371N	possibly damaging	Het
Tll1	C	T	8: 64,527,324 (GRCm39)	S399N	probably damaging	Het
Tmem209	A	C	6: 30,505,833 (GRCm39)	C114G	probably null	Het
Tmem25	C	T	9: 44,706,811 (GRCm39)		probably benign	Het
Tmem8b	T	C	4: 43,674,562 (GRCm39)	I282T	possibly damaging	Het
Trdmt1	T	A	2: 13,549,391 (GRCm39)	H18L	probably benign	Het
Trim63	A	G	4: 134,043,716 (GRCm39)	T60A	probably benign	Het
Trpv2	T	C	11: 62,475,502 (GRCm39)		probably null	Het
Ubr2	A	T	17: 47,249,579 (GRCm39)	I1591K	probably damaging	Het
Use1	A	T	8: 71,819,709 (GRCm39)		probably benign	Het
Zfp850	A	T	7: 27,684,642 (GRCm39)	C35S	possibly damaging	Het

Other mutations in H6pd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AAGTCACTGGGCTTTGGGACTGAG -3'
(R):5'- TGTTTAAGAATCGGGCGTACTGCAC -3'

Sequencing Primer
(F):5'- GGTATCAGCACCTCCAGC -3'
(R):5'- TACTGCACCCAGAGCGAG -3'

Posted On

2013-07-30