Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Gdpgp1'

186059

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gdpgp1

Ensembl Gene

ENSMUSG00000050973

Gene Name

GDP-D-glucose phosphorylase 1

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

80232865-80242061 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80239020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 266 (D266E)

Ref Sequence

ENSEMBL: ENSMUSP00000061808 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062915]

AlphaFold

Q3TLS3

Predicted Effect

probably benign
Transcript: ENSMUST00000062915
AA Change: D266E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000061808
Gene: ENSMUSG00000050973
AA Change: D266E

Domain	Start	End	E-Value	Type
SCOP:d1kpf__	150	223	1e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119674

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Plekhg3	T	A	12: 76,560,429	Y88N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Gdpgp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Gdpgp1	APN	7	80239352	missense	probably damaging	1.00
IGL02641:Gdpgp1	APN	7	80239048	nonsense	probably null
IGL03209:Gdpgp1	APN	7	80239099	missense	probably damaging	1.00
IGL03356:Gdpgp1	APN	7	80238695	missense	possibly damaging	0.89
R1158:Gdpgp1	UTSW	7	80238502	missense	probably benign	0.01
R1652:Gdpgp1	UTSW	7	80239364	missense	probably benign	0.20
R1851:Gdpgp1	UTSW	7	80238601	missense	probably damaging	0.97
R1872:Gdpgp1	UTSW	7	80238424	missense	probably benign	0.00
R6119:Gdpgp1	UTSW	7	80238992	missense	probably damaging	1.00
R6318:Gdpgp1	UTSW	7	80239150	missense	possibly damaging	0.89
R7679:Gdpgp1	UTSW	7	80238576	missense	probably benign	0.30
R7936:Gdpgp1	UTSW	7	80239078	missense	probably damaging	0.98
R7940:Gdpgp1	UTSW	7	80239205	missense	probably damaging	1.00
R8109:Gdpgp1	UTSW	7	80238833	missense	probably damaging	1.00
R8798:Gdpgp1	UTSW	7	80238977	missense	probably damaging	1.00
R8882:Gdpgp1	UTSW	7	80238956	missense	possibly damaging	0.50
R9094:Gdpgp1	UTSW	7	80238468	missense	probably benign	0.00
R9100:Gdpgp1	UTSW	7	80238534	missense	probably benign	0.01

Posted On

2014-05-07