Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02800:G6pd2'

360130

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

G6pd2

Ensembl Gene

ENSMUSG00000089992

Gene Name

glucose-6-phosphate dehydrogenase 2

Synonyms

G6pdx-ps1, Gpd-2, Gpd2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02800

Quality Score

Status

Chromosome

Chromosomal Location

61966186-61967820 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61966735 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 170 (E170G)

Ref Sequence

ENSEMBL: ENSMUSP00000131163 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053876]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000053876
AA Change: E170G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: E170G

Domain	Start	End	E-Value	Type
Pfam:G6PD_N	35	210	4.1e-60	PFAM
Pfam:G6PD_C	212	504	9.9e-119	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,296,349 (GRCm39)	I1045T	probably damaging	Het
Ankrd22	T	C	19: 34,143,181 (GRCm39)		probably benign	Het
Bahcc1	A	G	11: 120,163,760 (GRCm39)	D686G	probably damaging	Het
Carns1	A	G	19: 4,216,569 (GRCm39)		probably benign	Het
Cc2d1b	C	T	4: 108,483,333 (GRCm39)	L306F	probably benign	Het
Ccdc153	A	G	9: 44,157,129 (GRCm39)	E135G	probably damaging	Het
Ccne1	T	C	7: 37,802,224 (GRCm39)	D148G	probably damaging	Het
Cfap57	A	T	4: 118,471,947 (GRCm39)	M144K	probably damaging	Het
Chd6	A	G	2: 160,826,552 (GRCm39)	V1049A	probably damaging	Het
Cpne9	A	G	6: 113,279,034 (GRCm39)	D476G	probably benign	Het
Dna2	T	C	10: 62,797,504 (GRCm39)		probably null	Het
Eif4h	T	C	5: 134,656,459 (GRCm39)	D77G	probably benign	Het
Fhl2	C	T	1: 43,167,562 (GRCm39)	R177Q	probably benign	Het
Fxyd5	C	T	7: 30,732,404 (GRCm39)	R176H	possibly damaging	Het
Haus3	A	G	5: 34,323,668 (GRCm39)	I314T	possibly damaging	Het
Igkv4-54	A	G	6: 69,608,862 (GRCm39)	V41A	probably damaging	Het
Kidins220	T	A	12: 25,053,092 (GRCm39)	C461S	probably damaging	Het
Lsr	T	C	7: 30,657,838 (GRCm39)	D442G	probably damaging	Het
Mecom	T	C	3: 30,015,183 (GRCm39)	I847V	probably damaging	Het
Mia2	C	T	12: 59,235,277 (GRCm39)	R1326*	probably null	Het
Myo15a	C	A	11: 60,393,195 (GRCm39)	H2240N	probably damaging	Het
Or1e17	A	G	11: 73,831,942 (GRCm39)	Y290C	probably damaging	Het
Or4f62	A	T	2: 111,986,589 (GRCm39)	I98F	possibly damaging	Het
Osgep	T	A	14: 51,153,314 (GRCm39)		probably benign	Het
Pcnt	G	A	10: 76,248,417 (GRCm39)	Q901*	probably null	Het
Pgm3	T	C	9: 86,437,431 (GRCm39)	E481G	possibly damaging	Het
Plch1	T	A	3: 63,605,899 (GRCm39)	D1326V	probably benign	Het
Rabgap1l	T	C	1: 160,299,623 (GRCm39)	D590G	possibly damaging	Het
Rapsn	A	G	2: 90,873,584 (GRCm39)	M244V	probably benign	Het
Rcbtb2	T	A	14: 73,405,543 (GRCm39)	Y299*	probably null	Het
Slc8a1	A	T	17: 81,715,752 (GRCm39)	D760E	probably benign	Het
Smim23	C	A	11: 32,774,424 (GRCm39)		probably null	Het
Sva	A	G	6: 42,017,069 (GRCm39)	T59A	unknown	Het
Tacc2	T	A	7: 130,225,809 (GRCm39)	D831E	probably benign	Het
Tasor2	T	C	13: 3,635,154 (GRCm39)	N551S	probably benign	Het
Tg	G	T	15: 66,629,735 (GRCm39)	W472L	probably damaging	Het
Tmem231	A	G	8: 112,640,664 (GRCm39)	V283A	probably benign	Het
Traf4	A	T	11: 78,051,061 (GRCm39)	I365N	possibly damaging	Het
Usf3	G	A	16: 44,039,459 (GRCm39)	S1313N	probably benign	Het
Vangl1	G	A	3: 102,070,611 (GRCm39)		probably benign	Het
Wdr70	T	C	15: 8,111,980 (GRCm39)	S88G	probably benign	Het

Other mutations in G6pd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01118:G6pd2	APN	5	61,967,406 (GRCm39)	missense	probably benign
IGL01329:G6pd2	APN	5	61,967,281 (GRCm39)	missense	probably damaging	1.00
IGL02072:G6pd2	APN	5	61,966,753 (GRCm39)	missense	probably damaging	1.00
IGL02502:G6pd2	APN	5	61,966,971 (GRCm39)	missense	probably damaging	1.00
IGL03012:G6pd2	APN	5	61,966,816 (GRCm39)	missense	probably damaging	1.00
IGL03085:G6pd2	APN	5	61,967,645 (GRCm39)	missense	probably benign
R0505:G6pd2	UTSW	5	61,966,910 (GRCm39)	missense	probably benign
R0632:G6pd2	UTSW	5	61,967,514 (GRCm39)	missense	probably benign
R0658:G6pd2	UTSW	5	61,967,017 (GRCm39)	missense	probably damaging	1.00
R1399:G6pd2	UTSW	5	61,967,361 (GRCm39)	missense	probably benign	0.02
R1918:G6pd2	UTSW	5	61,967,664 (GRCm39)	missense	probably benign
R2077:G6pd2	UTSW	5	61,967,594 (GRCm39)	missense	probably damaging	0.97
R2338:G6pd2	UTSW	5	61,967,351 (GRCm39)	missense	probably benign
R2566:G6pd2	UTSW	5	61,966,330 (GRCm39)	missense	probably damaging	1.00
R2918:G6pd2	UTSW	5	61,966,869 (GRCm39)	missense	probably damaging	1.00
R3963:G6pd2	UTSW	5	61,966,228 (GRCm39)	start codon destroyed	probably null	0.50
R4399:G6pd2	UTSW	5	61,967,516 (GRCm39)	missense	probably benign	0.01
R4469:G6pd2	UTSW	5	61,966,288 (GRCm39)	missense	probably benign
R4560:G6pd2	UTSW	5	61,967,686 (GRCm39)	missense	possibly damaging	0.95
R4563:G6pd2	UTSW	5	61,967,686 (GRCm39)	missense	possibly damaging	0.95
R4914:G6pd2	UTSW	5	61,967,672 (GRCm39)	nonsense	probably null
R5106:G6pd2	UTSW	5	61,967,695 (GRCm39)	missense	probably benign
R5242:G6pd2	UTSW	5	61,966,785 (GRCm39)	missense	probably benign	0.00
R5838:G6pd2	UTSW	5	61,966,568 (GRCm39)	missense	probably benign
R6131:G6pd2	UTSW	5	61,966,593 (GRCm39)	missense	probably benign	0.03
R6200:G6pd2	UTSW	5	61,967,214 (GRCm39)	missense	probably benign	0.00
R7009:G6pd2	UTSW	5	61,966,234 (GRCm39)	missense	probably benign	0.00
R7337:G6pd2	UTSW	5	61,967,562 (GRCm39)	missense	probably benign	0.13
R9694:G6pd2	UTSW	5	61,966,460 (GRCm39)	missense	probably benign

Posted On

2015-12-18