Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01914:H6pd'

279099

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 #

IGL01914

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atf7	A	T	15: 102,459,913 (GRCm39)	Y67*	probably null	Het
Atp6v1b2	C	A	8: 69,548,932 (GRCm39)		probably benign	Het
Cd24a	T	C	10: 43,458,699 (GRCm39)	S79P	unknown	Het
Col4a2	G	A	8: 11,464,754 (GRCm39)	E340K	possibly damaging	Het
Dtna	A	T	18: 23,730,516 (GRCm39)	N301I	possibly damaging	Het
Ero1a	T	C	14: 45,544,069 (GRCm39)	D45G	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Htt	A	G	5: 34,987,053 (GRCm39)	T1091A	probably benign	Het
Msto1	T	C	3: 88,820,210 (GRCm39)	E82G	probably benign	Het
Mup11	T	A	4: 60,615,821 (GRCm39)		probably benign	Het
Nlrp9a	T	A	7: 26,256,689 (GRCm39)	N13K	probably benign	Het
Nsun7	C	T	5: 66,433,977 (GRCm39)	P209L	probably damaging	Het
Or5ac25	A	T	16: 59,182,294 (GRCm39)	C96S	probably damaging	Het
Or5al1	C	T	2: 85,990,391 (GRCm39)	V108I	probably benign	Het
Or8j3	G	A	2: 86,029,016 (GRCm39)	L27F	probably benign	Het
Pecam1	A	G	11: 106,590,693 (GRCm39)	I27T	possibly damaging	Het
Prkcd	T	C	14: 30,329,383 (GRCm39)	E19G	possibly damaging	Het
Slc4a11	A	T	2: 130,529,199 (GRCm39)	I417N	probably damaging	Het
Stat1	T	C	1: 52,165,716 (GRCm39)	I104T	probably benign	Het
Stk17b	T	C	1: 53,800,226 (GRCm39)	N251D	probably damaging	Het
Ttll4	C	T	1: 74,718,217 (GRCm39)	H23Y	probably benign	Het
Vmn2r79	A	T	7: 86,686,571 (GRCm39)	T651S	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
IGL01913: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