Mutagenetix > Incidental Mutation

Incidental Mutation 'R7348:H6pd'

570341

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

045380-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R7348 (G1)

Quality Score

186.009

Status

Validated

Chromosome

Chromosomal Location

150063932-150093480 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to A at 150068359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000030830 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030830] [ENSMUST00000084117]

AlphaFold

Q8CFX1

Predicted Effect

probably null
Transcript: ENSMUST00000030830

SMART Domains

Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980

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

probably null
Transcript: ENSMUST00000084117

SMART Domains

Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980

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

0.9590

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

99% (80/81)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	G	A	15: 41,729,555 (GRCm39)	R282C	probably damaging	Het
Adcy2	T	A	13: 68,882,794 (GRCm39)	E314D	possibly damaging	Het
Adgrl2	A	T	3: 148,523,402 (GRCm39)	I274N		Het
Adpgk	A	G	9: 59,221,069 (GRCm39)	I292V	probably benign	Het
Agtrap	G	T	4: 148,165,054 (GRCm39)	F124L	probably benign	Het
Ankrd26	A	G	6: 118,485,525 (GRCm39)	Y1450H	probably damaging	Het
Ap4e1	A	T	2: 126,903,896 (GRCm39)	S933C	probably damaging	Het
Ap4e1	G	T	2: 126,903,897 (GRCm39)	S933I	possibly damaging	Het
Ap5s1	A	T	2: 131,054,572 (GRCm39)	T128S	possibly damaging	Het
Arih1	T	C	9: 59,393,341 (GRCm39)	Y97C	probably damaging	Het
Atp1a3	A	G	7: 24,678,251 (GRCm39)	F1034S	unknown	Het
Bmp6	T	C	13: 38,669,879 (GRCm39)	S388P	probably benign	Het
Ccdc39	A	G	3: 33,886,825 (GRCm39)	V261A	possibly damaging	Het
Ccdc66	C	T	14: 27,222,293 (GRCm39)	C150Y	probably damaging	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cln6	A	G	9: 62,756,458 (GRCm39)	S201G	probably benign	Het
Cntnap4	T	C	8: 113,391,909 (GRCm39)	Y125H	probably damaging	Het
Copa	A	G	1: 171,929,790 (GRCm39)	T286A	possibly damaging	Het
Cul9	A	T	17: 46,821,919 (GRCm39)	I1852K	possibly damaging	Het
Cyp2j8	C	A	4: 96,332,877 (GRCm39)	A490S	probably benign	Het
Cyp2t4	A	G	7: 26,856,676 (GRCm39)	I239V	probably benign	Het
Dpcd	A	G	19: 45,560,905 (GRCm39)	Y111C	probably damaging	Het
E2f7	C	T	10: 110,616,836 (GRCm39)	T692I	probably damaging	Het
Fastkd5	A	G	2: 130,457,055 (GRCm39)	Y512H	probably damaging	Het
Fastkd5	A	C	2: 130,458,359 (GRCm39)	M77R	probably benign	Het
Fhod3	A	G	18: 25,223,524 (GRCm39)	R957G	possibly damaging	Het
Haus5	G	T	7: 30,356,391 (GRCm39)	P544Q	possibly damaging	Het
Ifi207	CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG	1: 173,556,762 (GRCm39)		probably benign	Het
Igf2r	A	G	17: 12,922,371 (GRCm39)	Y1248H	probably damaging	Het
Izumo3	T	C	4: 92,035,455 (GRCm39)	N6S	possibly damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Map3k8	T	A	18: 4,340,561 (GRCm39)	H251L	probably damaging	Het
Mapre3	T	C	5: 31,019,173 (GRCm39)	Y6H	probably benign	Het
Mlh3	G	T	12: 85,314,215 (GRCm39)	P657Q	probably damaging	Het
Mrgpra1	T	C	7: 46,985,157 (GRCm39)	Y174C	probably benign	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myh1	C	A	11: 67,093,365 (GRCm39)	P152Q	probably damaging	Het
Myh6	A	T	14: 55,189,716 (GRCm39)	L1110Q	probably damaging	Het
Nf1	T	A	11: 79,427,676 (GRCm39)	S1778T	probably benign	Het
Nkpd1	G	A	7: 19,258,341 (GRCm39)	E707K	probably damaging	Het
Nlrp4a	A	G	7: 26,143,698 (GRCm39)	E21G	probably damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Or2f1	T	C	6: 42,721,790 (GRCm39)	L273S	possibly damaging	Het
Or5p1	T	C	7: 107,916,920 (GRCm39)	V273A	possibly damaging	Het
Or5p64	T	C	7: 107,855,330 (GRCm39)	D5G	probably benign	Het
Or7a38	A	G	10: 78,753,396 (GRCm39)	T241A	probably damaging	Het
Parg	G	A	14: 31,972,036 (GRCm39)	R677Q	possibly damaging	Het
Pcsk5	A	T	19: 17,434,182 (GRCm39)	C1395*	probably null	Het
Psd2	G	A	18: 36,113,389 (GRCm39)	S287N	possibly damaging	Het
Psd3	T	C	8: 68,243,583 (GRCm39)	N685S	possibly damaging	Het
Pygb	C	T	2: 150,628,903 (GRCm39)	T39M	probably benign	Het
Rbfox1	C	A	16: 7,225,888 (GRCm39)	Y351*	probably null	Het
Rftn1	A	G	17: 50,311,351 (GRCm39)	L396P	probably damaging	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Scn5a	T	C	9: 119,364,899 (GRCm39)	M440V	probably benign	Het
Sel1l2	T	C	2: 140,107,644 (GRCm39)	N240S	probably benign	Het
Skic3	T	C	13: 76,331,003 (GRCm39)	F1478L	possibly damaging	Het
Skint1	T	C	4: 111,878,770 (GRCm39)	L234P	probably damaging	Het
Skint11	T	A	4: 114,101,919 (GRCm39)	Y311N	probably benign	Het
Slc6a5	A	T	7: 49,559,915 (GRCm39)		probably benign	Het
Tas2r134	T	C	2: 51,518,414 (GRCm39)	S298P	possibly damaging	Het
Tbcd	C	A	11: 121,485,137 (GRCm39)	A773D	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tmem184a	T	C	5: 139,799,809 (GRCm39)	E24G	probably null	Het
Tmem207	C	A	16: 26,335,577 (GRCm39)	W53C	possibly damaging	Het
Tns1	T	A	1: 73,956,076 (GRCm39)	H549L	possibly damaging	Het
Ttc41	G	T	10: 86,586,212 (GRCm39)	E839*	probably null	Het
Ufd1	T	G	16: 18,634,635 (GRCm39)		probably benign	Het
Usp28	A	G	9: 48,942,177 (GRCm39)	E713G	probably benign	Het
Utrn	A	G	10: 12,623,762 (GRCm39)	W159R	probably damaging	Het
Vcl	C	T	14: 21,053,218 (GRCm39)	A411V	probably benign	Het
Vcl	T	A	14: 21,059,020 (GRCm39)	C545*	probably null	Het
Vmn1r120	A	T	7: 20,787,377 (GRCm39)	S111R	probably damaging	Het
Wwox	T	A	8: 115,199,392 (GRCm39)	C146S	probably benign	Het
Zbtb2	T	C	10: 4,324,574 (GRCm39)	T57A	possibly damaging	Het
Zfp362	T	C	4: 128,671,010 (GRCm39)	D336G	possibly damaging	Het
Zfp628	G	A	7: 4,924,817 (GRCm39)	G1013E	probably damaging	Het
Zfp704	A	G	3: 9,539,658 (GRCm39)	S231P	probably damaging	Het
Zhx3	G	T	2: 160,624,038 (GRCm39)	S43*	probably null	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
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
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'- TCCGAGTCCCACAGATTTCC -3'
(R):5'- GAACCACCTGACTGAGATCCTC -3'

Sequencing Primer
(F):5'- CAGATTTCCTGGGACTGCATG -3'
(R):5'- TGACTGAGATCCTCACGCTG -3'

Posted On

2019-09-13