Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:H6pd'

100919

Institutional Source

Beutler Lab

Gene Symbol

H6pd

Ensembl Gene

ENSMUSG00000028980

Gene Name

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

Synonyms

Gpd-1, Gpd1, G6pd1

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

149979475-150009023 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 149995956 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 136 (I136T)

Ref Sequence

ENSEMBL: ENSMUSP00000115647 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030830
AA Change: I144T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: I144T

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: I136T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: I136T

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

noncoding transcript
Transcript: ENSMUST00000152907

Predicted Effect

possibly damaging
Transcript: ENSMUST00000153394
AA Change: I136T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980
AA Change: I136T

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

Meta Mutation Damage Score

0.6950

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Abcg2	C	A	6: 58,678,300	L407I	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in H6pd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00916:H6pd	APN	4	149994468	critical splice donor site	probably null
IGL01450:H6pd	APN	4	149984118	missense	probably damaging	1.00
IGL01913:H6pd	APN	4	149994463	unclassified	probably benign
IGL01914:H6pd	APN	4	149994463	unclassified	probably benign
dryer	UTSW	4	149982865	missense	probably damaging	1.00
herr	UTSW	4	149983902	critical splice donor site	probably null
R0402:H6pd	UTSW	4	149996316	missense	probably damaging	1.00
R0486:H6pd	UTSW	4	149982936	splice site	probably benign
R0548:H6pd	UTSW	4	149981616	missense	probably damaging	1.00
R0690:H6pd	UTSW	4	149982573	missense	possibly damaging	0.93
R1298:H6pd	UTSW	4	149982514	missense	probably benign	0.01
R1331:H6pd	UTSW	4	149982415	missense	probably benign	0.28
R1581:H6pd	UTSW	4	149982514	missense	possibly damaging	0.94
R1781:H6pd	UTSW	4	149995931	missense	probably damaging	1.00
R1791:H6pd	UTSW	4	149981673	missense	probably damaging	0.97
R1840:H6pd	UTSW	4	149982050	missense	possibly damaging	0.55
R2290:H6pd	UTSW	4	149981881	missense	probably damaging	1.00
R3889:H6pd	UTSW	4	149995773	missense	possibly damaging	0.67
R4432:H6pd	UTSW	4	149995758	missense	probably damaging	1.00
R4576:H6pd	UTSW	4	149994476	missense	probably damaging	0.99
R4629:H6pd	UTSW	4	149996346	missense	probably benign	0.10
R4856:H6pd	UTSW	4	149982778	missense	possibly damaging	0.47
R4886:H6pd	UTSW	4	149982778	missense	possibly damaging	0.47
R4951:H6pd	UTSW	4	149981587	missense	probably damaging	1.00
R5124:H6pd	UTSW	4	149982055	missense	possibly damaging	0.57
R5337:H6pd	UTSW	4	149981784	missense	probably benign	0.02
R5408:H6pd	UTSW	4	149982865	missense	probably damaging	1.00
R5474:H6pd	UTSW	4	149996089	missense	probably damaging	1.00
R6266:H6pd	UTSW	4	149995957	missense	probably benign	0.32
R6476:H6pd	UTSW	4	149982727	missense	probably damaging	0.99
R6725:H6pd	UTSW	4	149996358	missense	probably damaging	1.00
R6733:H6pd	UTSW	4	149985121	splice site	probably null
R6785:H6pd	UTSW	4	149982790	missense	possibly damaging	0.50
R6853:H6pd	UTSW	4	149982462	missense	probably benign	0.00
R6921:H6pd	UTSW	4	149982051	missense	probably damaging	0.99
R7258:H6pd	UTSW	4	149996362	missense	probably benign	0.09
R7269:H6pd	UTSW	4	149982912	missense	probably benign	0.00
R7326:H6pd	UTSW	4	149996350	missense	probably benign	0.00
R7348:H6pd	UTSW	4	149983902	critical splice donor site	probably null
R7488:H6pd	UTSW	4	149982636	missense	probably benign
R7512:H6pd	UTSW	4	149995948	missense	probably benign	0.00
R7684:H6pd	UTSW	4	149996062	missense	probably benign
R7704:H6pd	UTSW	4	149982903	missense	probably benign	0.45
R7954:H6pd	UTSW	4	149982826	missense	probably benign
R8226:H6pd	UTSW	4	149995989	missense	probably benign	0.02
R8420:H6pd	UTSW	4	149981676	missense	probably benign	0.01
X0020:H6pd	UTSW	4	149982798	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-15