Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01913:H6pd'

279095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H6pd

Ensembl Gene

ENSMUSG00000028980

Gene Name

hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)

Synonyms

Gpd1, G6pd1, Gpd-1

Accession Numbers

Essential gene?

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

Stock #

IGL01913

Quality Score

Status

Chromosome

Chromosomal Location

150063932-150093480 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to T at 150078920 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115647 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030830] [ENSMUST00000084117] [ENSMUST00000153394]

AlphaFold

Q8CFX1

Predicted Effect

probably benign
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 benign
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

Predicted Effect

probably benign
Transcript: ENSMUST00000153394

SMART Domains

Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:G6PD_N	26	172	5e-21	PFAM

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2a	A	G	2: 48,789,625 (GRCm39)	E456G	probably damaging	Het
Ahnak	A	T	19: 8,983,428 (GRCm39)	K1571*	probably null	Het
Arhgef2	G	A	3: 88,539,226 (GRCm39)	V58M	probably damaging	Het
Ash2l	A	G	8: 26,309,652 (GRCm39)		probably null	Het
C3	T	C	17: 57,520,767 (GRCm39)	N1163S	probably null	Het
Cbfa2t2	A	G	2: 154,359,693 (GRCm39)	T253A	probably damaging	Het
Dnah5	T	C	15: 28,313,899 (GRCm39)	V1905A	possibly damaging	Het
Dsg1a	C	T	18: 20,455,293 (GRCm39)	R86C	probably damaging	Het
Fastkd1	A	T	2: 69,538,845 (GRCm39)		probably benign	Het
Fat3	T	C	9: 15,910,086 (GRCm39)	D1972G	probably damaging	Het
Fxyd5	T	C	7: 30,734,637 (GRCm39)	T163A	probably damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Klhdc2	T	G	12: 69,349,132 (GRCm39)	S90A	probably benign	Het
Lcn2	A	G	2: 32,277,157 (GRCm39)	V139A	possibly damaging	Het
Nup205	A	G	6: 35,204,365 (GRCm39)	E1417G	probably benign	Het
Or4a77	T	G	2: 89,487,684 (GRCm39)	I34L	probably benign	Het
Or5ac25	A	T	16: 59,182,294 (GRCm39)	C96S	probably damaging	Het
Or5t17	A	T	2: 86,833,164 (GRCm39)	M284L	possibly damaging	Het
Pcdh18	C	A	3: 49,709,698 (GRCm39)	S539I	possibly damaging	Het
Stat1	T	C	1: 52,165,716 (GRCm39)	I104T	probably benign	Het
Tmem151a	G	A	19: 5,131,920 (GRCm39)	R429C	probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Wdpcp	A	G	11: 21,698,931 (GRCm39)	D570G	probably damaging	Het
Zbtb47	T	C	9: 121,593,035 (GRCm39)	C452R	probably damaging	Het
Zfp429	T	C	13: 67,544,793 (GRCm39)	Y27C	probably damaging	Het
Zfp462	T	C	4: 55,012,138 (GRCm39)	V1368A	probably benign	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
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
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

Posted On

2015-04-16