Mutagenetix > Incidental Mutation

Incidental Mutation 'R4856:H6pd'

373947

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

042467-MU

Accession Numbers

Essential gene?

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

Stock #

R4856 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

150063932-150093480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 150067235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 384 (V384M)

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: V392M

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: V392M

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: V384M

PolyPhen 2 Score 0.475 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: V384M

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.8%

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp2	G	A	6: 140,589,799 (GRCm39)		probably null	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atp2b4	T	A	1: 133,634,518 (GRCm39)	I1177L	probably benign	Het
Bub3	A	T	7: 131,163,297 (GRCm39)	D76V	probably damaging	Het
Cacna2d4	G	A	6: 119,255,217 (GRCm39)	R578Q	possibly damaging	Het
Caprin2	A	C	6: 148,774,509 (GRCm39)	S268A	probably benign	Het
Card6	T	C	15: 5,134,623 (GRCm39)		probably null	Het
Cdk13	A	G	13: 17,894,319 (GRCm39)	S1103P	probably benign	Het
Cfap221	T	C	1: 119,861,934 (GRCm39)	T614A	probably damaging	Het
Cfap221	T	A	1: 119,912,488 (GRCm39)	Y133F	probably damaging	Het
Clcc1	A	G	3: 108,584,154 (GRCm39)	T513A	probably benign	Het
Clec4g	T	A	8: 3,766,419 (GRCm39)		probably benign	Het
Cntln	A	C	4: 84,889,466 (GRCm39)	E316D	probably benign	Het
Cpne2	T	A	8: 95,290,592 (GRCm39)	D392E	probably benign	Het
Cry1	G	T	10: 84,984,634 (GRCm39)	P147T	probably damaging	Het
Cyp4a29	T	C	4: 115,110,078 (GRCm39)	V440A	probably benign	Het
Ddx46	A	G	13: 55,786,012 (GRCm39)	D64G	unknown	Het
Dhx34	A	G	7: 15,949,367 (GRCm39)	S354P	possibly damaging	Het
Ecm2	A	T	13: 49,676,263 (GRCm39)	I327F	possibly damaging	Het
Elavl3	T	C	9: 21,937,614 (GRCm39)	K189E	possibly damaging	Het
Enam	A	T	5: 88,636,593 (GRCm39)	R82*	probably null	Het
Erf	A	G	7: 24,945,636 (GRCm39)	V45A	probably damaging	Het
Fat3	T	A	9: 15,932,626 (GRCm39)	I1436F	probably benign	Het
Flnc	T	C	6: 29,447,889 (GRCm39)	Y1231H	probably damaging	Het
Ggta1	T	A	2: 35,292,803 (GRCm39)	H180L	possibly damaging	Het
Grin2c	T	C	11: 115,151,616 (GRCm39)	T115A	probably damaging	Het
Hba-x	A	G	11: 32,227,008 (GRCm39)	E39G	probably benign	Het
Hnrnpul2	C	T	19: 8,807,191 (GRCm39)	P618S	probably benign	Het
Hpse2	C	T	19: 42,777,396 (GRCm39)	R590H	probably damaging	Het
Ighv1-54	C	A	12: 115,157,423 (GRCm39)	G75C	probably damaging	Het
Ighv8-11	C	A	12: 115,530,774 (GRCm39)	R118L	possibly damaging	Het
Iqcm	A	T	8: 76,615,228 (GRCm39)	R436S	possibly damaging	Het
Islr	T	C	9: 58,064,889 (GRCm39)	D206G	probably damaging	Het
Itih1	A	G	14: 30,658,658 (GRCm39)		probably null	Het
Jam2	G	A	16: 84,598,490 (GRCm39)	D34N	probably benign	Het
Klhl14	A	T	18: 21,691,029 (GRCm39)		probably null	Het
Lama2	TTTGCGCATT	TTT	10: 26,919,639 (GRCm39)		probably null	Het
Lrrc66	A	G	5: 73,765,910 (GRCm39)	F378L	probably benign	Het
Map10	T	A	8: 126,397,431 (GRCm39)	Y275N	probably damaging	Het
Mpi	T	C	9: 57,452,590 (GRCm39)	Y314C	probably damaging	Het
Mpp3	A	G	11: 101,915,962 (GRCm39)	Y55H	probably benign	Het
Nectin4	T	C	1: 171,212,383 (GRCm39)	V327A	possibly damaging	Het
Nlrp12	T	A	7: 3,289,072 (GRCm39)	D480V	probably damaging	Het
Nolc1	GAGCAGCAGCAGCAGCAGCAGCAGCAGC	GAGCAGCAGCAGCAGCAGCAGCAGC	19: 46,071,594 (GRCm39)		probably benign	Het
Notch2	A	T	3: 98,009,735 (GRCm39)	Y554F	probably damaging	Het
Nrsn2	T	C	2: 152,211,531 (GRCm39)	K167E	probably benign	Het
Olr1	T	A	6: 129,470,559 (GRCm39)	K203*	probably null	Het
Or14j8	A	T	17: 38,262,962 (GRCm39)	S318T	probably benign	Het
Or2ag13	T	A	7: 106,473,177 (GRCm39)	I92F	probably damaging	Het
Or5b117	T	C	19: 13,431,885 (GRCm39)		probably null	Het
Or8b3	A	T	9: 38,314,764 (GRCm39)	N195I	probably damaging	Het
Or9i2	T	A	19: 13,815,643 (GRCm39)	E298V	probably damaging	Het
Osbpl9	T	C	4: 108,925,564 (GRCm39)	N485S	probably benign	Het
Pbk	T	A	14: 66,052,650 (GRCm39)	H164Q	probably damaging	Het
Pfn2	G	T	3: 57,754,874 (GRCm39)	N10K	probably damaging	Het
Pik3ca	A	G	3: 32,491,312 (GRCm39)	D133G	probably damaging	Het
Pramel27	G	T	4: 143,579,873 (GRCm39)	R486L	probably benign	Het
Prl6a1	A	T	13: 27,502,983 (GRCm39)	D193V	probably damaging	Het
Rad21	G	T	15: 51,831,896 (GRCm39)	P395Q	probably damaging	Het
Reps1	T	A	10: 17,999,373 (GRCm39)	I720N	probably damaging	Het
Rpn2	T	C	2: 157,159,964 (GRCm39)		probably null	Het
Rreb1	G	A	13: 38,115,034 (GRCm39)	V798M	possibly damaging	Het
Sardh	C	T	2: 27,134,489 (GRCm39)	R9H	probably benign	Het
Scgb3a2	C	T	18: 43,899,819 (GRCm39)	P36S	probably damaging	Het
Scn10a	C	A	9: 119,523,375 (GRCm39)	G6V	possibly damaging	Het
Scn10a	C	T	9: 119,523,376 (GRCm39)	G6R	possibly damaging	Het
Scn3a	T	C	2: 65,291,376 (GRCm39)	D1790G	probably damaging	Het
Sec24b	A	T	3: 129,777,619 (GRCm39)	H1226Q	probably benign	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc12a3	G	A	8: 95,078,438 (GRCm39)		probably null	Het
Slitrk6	T	C	14: 110,989,315 (GRCm39)	T131A	probably damaging	Het
Spata1	C	G	3: 146,175,529 (GRCm39)	D326H	probably damaging	Het
Tex52	A	T	6: 128,361,951 (GRCm39)		probably null	Het
Tma16	A	C	8: 66,934,129 (GRCm39)	C75W	probably damaging	Het
Tmem67	G	A	4: 12,089,416 (GRCm39)		probably benign	Het
Trgv4	T	C	13: 19,369,236 (GRCm39)	V29A	probably benign	Het
Trmt10a	A	T	3: 137,854,146 (GRCm39)	K75*	probably null	Het
Ttc3	T	C	16: 94,191,142 (GRCm39)	V228A	probably benign	Het
Ttn	T	C	2: 76,561,644 (GRCm39)	D28954G	probably damaging	Het
Uggt2	A	G	14: 119,273,376 (GRCm39)		probably null	Het
Vars1	T	A	17: 35,234,702 (GRCm39)	V1177E	probably benign	Het
Vmn1r59	T	C	7: 5,457,532 (GRCm39)	D76G	possibly damaging	Het
Vmn2r114	G	T	17: 23,527,008 (GRCm39)	A508E	probably benign	Het
Vps41	G	A	13: 19,013,425 (GRCm39)	V348M	probably damaging	Het
Zbtb43	T	C	2: 33,343,944 (GRCm39)	H427R	probably 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
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
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'- TTCGGCAGTGGAAGATGTGC -3'
(R):5'- TGTCACTCTCAGGCTGTGATG -3'

Sequencing Primer
(F):5'- CCTGTAGGCGTAGTAATCAGAC -3'
(R):5'- ACTCTCAGGCTGTGATGTCTGC -3'

Posted On

2016-03-01