Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03028:Pgd'

408310

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pgd

Ensembl Gene

ENSMUSG00000028961

Gene Name

phosphogluconate dehydrogenase

Synonyms

0610042A05Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.959) question?

Stock #

IGL03028

Quality Score

Status

Chromosome

Chromosomal Location

149234448-149251162 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 149246084 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000081141 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084124]

AlphaFold

Q9DCD0

Predicted Effect

probably null
Transcript: ENSMUST00000084124

SMART Domains

Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961

Domain	Start	End	E-Value	Type
Pfam:NAD_binding_2	3	176	3.2e-52	PFAM
6PGD	180	470	7.75e-219	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124409

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137982

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143944

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156120

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	A	C	9: 53,506,062 (GRCm39)	V86G	probably benign	Het
Adgra3	A	T	5: 50,174,194 (GRCm39)	W115R	probably benign	Het
Ahr	G	A	12: 35,554,709 (GRCm39)	A470V	probably benign	Het
Aoah	A	T	13: 21,000,752 (GRCm39)	Q62L	possibly damaging	Het
Arhgef12	A	T	9: 42,937,524 (GRCm39)	D100E	possibly damaging	Het
Asic1	A	G	15: 99,570,038 (GRCm39)	N120D	probably benign	Het
Atp2b2	A	G	6: 113,736,103 (GRCm39)	L988P	probably damaging	Het
Atxn2	T	A	5: 121,948,972 (GRCm39)	H789Q	probably damaging	Het
Clk1	G	T	1: 58,460,261 (GRCm39)	S123*	probably null	Het
Col10a1	C	T	10: 34,271,012 (GRCm39)	A328V	probably benign	Het
Col26a1	G	T	5: 136,771,972 (GRCm39)	D415E	possibly damaging	Het
Ctla2a	A	G	13: 61,083,273 (GRCm39)		probably benign	Het
Cwf19l2	A	G	9: 3,430,622 (GRCm39)	E318G	probably benign	Het
Dnajc16	C	T	4: 141,495,043 (GRCm39)	W523*	probably null	Het
Ehhadh	T	C	16: 21,581,144 (GRCm39)	E616G	probably damaging	Het
F5	A	T	1: 164,020,569 (GRCm39)	K1015*	probably null	Het
Fam78a	A	G	2: 31,972,894 (GRCm39)	W9R	possibly damaging	Het
Frs2	A	T	10: 116,909,838 (GRCm39)	M508K	possibly damaging	Het
Gm3164	A	T	14: 4,440,111 (GRCm38)	M200L	probably benign	Het
Gm44511	T	C	6: 128,757,358 (GRCm39)	S179G	probably damaging	Het
Gpr25	G	A	1: 136,188,550 (GRCm39)	S21L	probably benign	Het
Hsdl2	A	G	4: 59,594,471 (GRCm39)	D34G	probably damaging	Het
Kcnt1	A	G	2: 25,799,215 (GRCm39)		probably null	Het
Kl	A	G	5: 150,915,015 (GRCm39)	Y914C	probably damaging	Het
Map3k3	T	G	11: 106,001,577 (GRCm39)	V45G	probably damaging	Het
Mppe1	A	C	18: 67,360,755 (GRCm39)	C261W	probably damaging	Het
Nin	T	C	12: 70,082,044 (GRCm39)	T1640A	probably benign	Het
Or51a8	T	A	7: 102,550,036 (GRCm39)	I154N	possibly damaging	Het
Or51ac3	A	G	7: 103,213,796 (GRCm39)		probably null	Het
Or5c1	C	T	2: 37,221,968 (GRCm39)	L70F	probably damaging	Het
Or5p59	T	A	7: 107,703,380 (GRCm39)	M288K	probably damaging	Het
Or7g26	A	T	9: 19,230,664 (GRCm39)	Y284F	probably damaging	Het
Oxr1	A	G	15: 41,680,559 (GRCm39)	N166D	probably damaging	Het
Pank4	T	A	4: 155,054,442 (GRCm39)		probably benign	Het
Pitrm1	C	T	13: 6,624,429 (GRCm39)	H831Y	probably benign	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Rad51	A	C	2: 118,946,795 (GRCm39)	M1L	possibly damaging	Het
Recql5	G	T	11: 115,785,257 (GRCm39)	S746R	possibly damaging	Het
Rhbdl3	C	T	11: 80,214,287 (GRCm39)	Q133*	probably null	Het
Rpp40	A	T	13: 36,088,494 (GRCm39)	L59Q	probably damaging	Het
Rtca	C	A	3: 116,286,741 (GRCm39)		probably benign	Het
Rtkn	C	T	6: 83,124,853 (GRCm39)	Q108*	probably null	Het
Shoc1	A	C	4: 59,094,274 (GRCm39)	I150S	possibly damaging	Het
Sirt6	C	T	10: 81,463,375 (GRCm39)		probably benign	Het
Slc9a4	G	A	1: 40,649,537 (GRCm39)	V517M	probably benign	Het
Smarca2	G	T	19: 26,655,712 (GRCm39)		probably benign	Het
Snx33	A	T	9: 56,833,735 (GRCm39)	D111E	probably benign	Het
Tgfb1	T	C	7: 25,403,621 (GRCm39)	I311T	probably damaging	Het
Tgfb2	C	T	1: 186,362,806 (GRCm39)		probably null	Het
Tmem232	T	C	17: 65,563,384 (GRCm39)	T670A	probably benign	Het
Tnfsf4	T	C	1: 161,223,213 (GRCm39)	F21L	possibly damaging	Het
Ubr5	T	C	15: 38,047,837 (GRCm39)	T47A	probably benign	Het
Unc79	T	C	12: 103,139,785 (GRCm39)	V2515A	possibly damaging	Het
Utp6	T	C	11: 79,844,450 (GRCm39)	K192E	probably damaging	Het
Vmn2r102	T	C	17: 19,914,328 (GRCm39)	F631S	possibly damaging	Het
Zfp516	A	C	18: 82,974,038 (GRCm39)	I79L	possibly damaging	Het

Other mutations in Pgd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02173:Pgd	APN	4	149,241,210 (GRCm39)	missense	probably damaging	1.00
IGL02480:Pgd	APN	4	149,241,075 (GRCm39)	missense	probably damaging	1.00
IGL03370:Pgd	APN	4	149,249,685 (GRCm39)	missense	probably damaging	1.00
R0398:Pgd	UTSW	4	149,238,339 (GRCm39)	missense	probably damaging	1.00
R0601:Pgd	UTSW	4	149,241,267 (GRCm39)	splice site	probably benign
R0980:Pgd	UTSW	4	149,238,768 (GRCm39)	splice site	probably null
R1475:Pgd	UTSW	4	149,241,232 (GRCm39)	missense	probably benign	0.00
R3826:Pgd	UTSW	4	149,250,461 (GRCm39)	splice site	probably benign
R4531:Pgd	UTSW	4	149,241,234 (GRCm39)	missense	probably benign	0.01
R4832:Pgd	UTSW	4	149,241,048 (GRCm39)	intron	probably benign
R6352:Pgd	UTSW	4	149,245,209 (GRCm39)	splice site	probably null
R6353:Pgd	UTSW	4	149,245,209 (GRCm39)	splice site	probably null
R6485:Pgd	UTSW	4	149,240,876 (GRCm39)	splice site	probably null
R6514:Pgd	UTSW	4	149,245,209 (GRCm39)	splice site	probably null
R6519:Pgd	UTSW	4	149,235,343 (GRCm39)	nonsense	probably null
R6543:Pgd	UTSW	4	149,245,209 (GRCm39)	splice site	probably null
R7153:Pgd	UTSW	4	149,246,135 (GRCm39)	missense	probably benign
R9517:Pgd	UTSW	4	149,249,668 (GRCm39)	missense	possibly damaging	0.61
R9649:Pgd	UTSW	4	149,235,596 (GRCm39)	missense	probably damaging	1.00
Z1176:Pgd	UTSW	4	149,251,136 (GRCm39)	start gained	probably benign

Posted On

2016-08-02