Mutagenetix > Incidental Mutation

Incidental Mutation 'R0980:Pgd'

96974

Institutional Source

Beutler Lab

Gene Symbol

Pgd

Ensembl Gene

ENSMUSG00000028961

Gene Name

phosphogluconate dehydrogenase

Synonyms

0610042A05Rik

MMRRC Submission

039106-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R0980 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

149234448-149251162 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 149238768 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

Coding Region Coverage

1x: 99.0%
3x: 98.0%
10x: 95.1%
20x: 89.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	T	C	9: 65,424,253 (GRCm39)	H20R	probably damaging	Het
Arfgef3	T	C	10: 18,467,866 (GRCm39)	E1778G	possibly damaging	Het
Arhgef18	C	T	8: 3,439,095 (GRCm39)		probably benign	Het
Blm	A	T	7: 80,149,706 (GRCm39)		probably null	Het
Ccr6	A	G	17: 8,474,846 (GRCm39)	E17G	probably benign	Het
Cep126	T	C	9: 8,100,720 (GRCm39)	T605A	probably damaging	Het
Cnga4	C	A	7: 105,057,213 (GRCm39)	P439T	probably damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cyp2a5	A	G	7: 26,538,431 (GRCm39)		probably null	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Elp3	T	C	14: 65,815,402 (GRCm39)	T197A	probably damaging	Het
Etl4	A	G	2: 20,806,378 (GRCm39)	D1200G	probably damaging	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Gprin1	T	C	13: 54,888,214 (GRCm39)	D20G	possibly damaging	Het
Hltf	T	C	3: 20,145,665 (GRCm39)	S432P	probably benign	Het
Immt	T	C	6: 71,851,310 (GRCm39)	V54A	probably benign	Het
Jhy	T	G	9: 40,856,133 (GRCm39)	Y118S	possibly damaging	Het
Kif23	C	A	9: 61,844,046 (GRCm39)	K154N	possibly damaging	Het
Krt79	T	C	15: 101,846,442 (GRCm39)	T169A	probably damaging	Het
Llgl2	A	G	11: 115,740,827 (GRCm39)	E443G	probably damaging	Het
Ltbp4	A	T	7: 27,023,587 (GRCm39)	C786S	probably damaging	Het
Mme	A	T	3: 63,247,550 (GRCm39)	E278D	probably benign	Het
Nt5c2	G	T	19: 46,887,317 (GRCm39)	Q162K	probably benign	Het
Obscn	A	G	11: 58,888,887 (GRCm39)	V2109A	possibly damaging	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Or8k28	T	C	2: 86,285,704 (GRCm39)	T304A	probably benign	Het
Or8k38	T	A	2: 86,488,209 (GRCm39)	I198L	probably benign	Het
Osmr	G	T	15: 6,881,921 (GRCm39)	N74K	probably benign	Het
Pes1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	11: 3,927,636 (GRCm39)		probably benign	Het
Pld1	T	A	3: 28,178,724 (GRCm39)	S873T	probably damaging	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Proca1	A	C	11: 78,095,773 (GRCm39)	H135P	probably benign	Het
Ptgs2	A	C	1: 149,980,061 (GRCm39)	D333A	probably damaging	Het
Rexo5	T	C	7: 119,423,035 (GRCm39)	V289A	probably damaging	Het
Rnf125	T	A	18: 21,112,117 (GRCm39)	C49*	probably null	Het
Rprd2	C	A	3: 95,673,216 (GRCm39)	R729L	probably damaging	Het
Sipa1l1	A	G	12: 82,388,994 (GRCm39)	S407G	possibly damaging	Het
Slc35a4	C	A	18: 36,815,834 (GRCm39)	N221K	probably damaging	Het
Sorcs1	T	C	19: 50,220,761 (GRCm39)	D563G	probably benign	Het
Stk39	G	T	2: 68,222,515 (GRCm39)	T183K	probably damaging	Het
Tc2n	T	A	12: 101,644,835 (GRCm39)	K264*	probably null	Het
Trim23	C	T	13: 104,324,635 (GRCm39)	R238W	probably damaging	Het
Trim66	C	A	7: 109,054,877 (GRCm39)	V1240L	probably damaging	Het
Ttn	T	C	2: 76,584,389 (GRCm39)	T13913A	probably damaging	Het
Ubap1	T	G	4: 41,379,832 (GRCm39)	C349G	probably damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	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
IGL03028:Pgd	APN	4	149,246,084 (GRCm39)	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- TGGAATTGGAGGACCTCTACAGACC -3'
(R):5'- TGAGTTGTTCTGTGCAATCCTTGCC -3'

Sequencing Primer
(F):5'- TCTACAGACCCCACCACAGG -3'
(R):5'- ACGTCCCTTTGAATTCCGAG -3'

Posted On

2014-01-05