Mutagenetix > Incidental Mutation

Incidental Mutation 'R7679:Gdpgp1'

592636

Institutional Source

Beutler Lab

Gene Symbol

Gdpgp1

Ensembl Gene

ENSMUSG00000050973

Gene Name

GDP-D-glucose phosphorylase 1

Synonyms

D330012F22Rik

MMRRC Submission

045707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

R7679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79882641-79891168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 79888324 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 118 (E118D)

Ref Sequence

ENSEMBL: ENSMUSP00000061808 (fasta)

Gene Model

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

AlphaFold

Q3TLS3

Predicted Effect

probably benign
Transcript: ENSMUST00000062915
AA Change: E118D

PolyPhen 2 Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000061808
Gene: ENSMUSG00000050973
AA Change: E118D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap11	A	C	14: 78,752,256 (GRCm39)	Y206D		Het
Atm	A	T	9: 53,353,797 (GRCm39)	I2906N	probably damaging	Het
B4galnt4	T	C	7: 140,647,678 (GRCm39)	V422A	probably benign	Het
Bod1l	TTCAGGGATC	TTC	5: 41,977,986 (GRCm39)		probably null	Het
Ccar2	G	A	14: 70,376,684 (GRCm39)	Q887*	probably null	Het
Cdh13	A	G	8: 119,963,658 (GRCm39)	I413V	probably benign	Het
Cfap54	A	G	10: 92,803,374 (GRCm39)	V1556A	probably benign	Het
Chchd7	A	T	4: 3,941,297 (GRCm39)	N14Y	probably damaging	Het
Col24a1	C	A	3: 145,105,110 (GRCm39)	T824N	possibly damaging	Het
Col6a3	A	T	1: 90,739,473 (GRCm39)	Y859N	possibly damaging	Het
Dnaaf5	C	T	5: 139,136,392 (GRCm39)	P131S	unknown	Het
Erh	T	C	12: 80,684,345 (GRCm39)	N44S	probably benign	Het
Esm1	T	A	13: 113,346,646 (GRCm39)	D90E	probably damaging	Het
Fbxo44	A	G	4: 148,238,089 (GRCm39)	F213L	probably benign	Het
Flnc	A	G	6: 29,456,789 (GRCm39)	T2262A	probably benign	Het
Fmo9	T	C	1: 166,495,058 (GRCm39)	Q281R	probably benign	Het
Gnas	A	T	2: 174,126,624 (GRCm39)	Q53L	probably damaging	Het
Gpr142	G	A	11: 114,697,533 (GRCm39)	V360M	possibly damaging	Het
Grn	A	G	11: 102,323,895 (GRCm39)	D46G	probably benign	Het
H2-T10	A	G	17: 36,430,216 (GRCm39)	F242L	not run	Het
Hgsnat	T	C	8: 26,444,665 (GRCm39)	T428A	probably damaging	Het
Hoxa9	A	G	6: 52,201,288 (GRCm39)	I251T	probably damaging	Het
Inpp5f	C	T	7: 128,296,247 (GRCm39)	T866I	possibly damaging	Het
Itgb1	T	A	8: 129,446,929 (GRCm39)	N481K	probably damaging	Het
Leng9	C	A	7: 4,152,659 (GRCm39)	D6Y	probably benign	Het
Lox	A	C	18: 52,658,178 (GRCm39)	F332V	possibly damaging	Het
Lrp1	G	T	10: 127,424,297 (GRCm39)	Y796*	probably null	Het
Lrrc32	G	A	7: 98,148,894 (GRCm39)	G558D	possibly damaging	Het
Lrrk2	A	G	15: 91,610,389 (GRCm39)	E707G	possibly damaging	Het
Matn4	A	G	2: 164,231,578 (GRCm39)	*625R	probably null	Het
Mcur1	T	A	13: 43,697,959 (GRCm39)	K314*	probably null	Het
Med1	G	C	11: 98,046,887 (GRCm39)	P1303R	unknown	Het
Mgam	T	C	6: 40,619,980 (GRCm39)	L23P	probably damaging	Het
Muc6	G	C	7: 141,217,659 (GRCm39)	P2338R	probably damaging	Het
Nfatc1	T	C	18: 80,651,205 (GRCm39)	I936V	probably benign	Het
Nol11	T	C	11: 107,064,142 (GRCm39)	S557G	probably benign	Het
Palb2	A	G	7: 121,727,237 (GRCm39)	I211T	probably benign	Het
Pard3	T	C	8: 128,098,327 (GRCm39)	V456A	probably benign	Het
Pax2	G	A	19: 44,749,376 (GRCm39)	V40M	probably damaging	Het
Pik3cb	T	C	9: 98,970,660 (GRCm39)	K344E	probably benign	Het
Pik3r3	T	A	4: 116,113,392 (GRCm39)	M45K	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Pot1a	A	G	6: 25,771,633 (GRCm39)	V196A	probably benign	Het
Prkdc	T	A	16: 15,649,183 (GRCm39)	I3719N	probably damaging	Het
Psg16	G	A	7: 16,827,685 (GRCm39)	G123S	probably damaging	Het
Psme4	A	G	11: 30,828,425 (GRCm39)	D1815G	probably damaging	Het
Rpe65	C	T	3: 159,310,030 (GRCm39)	T101I	probably damaging	Het
Rpp25l	A	C	4: 41,712,326 (GRCm39)	C150G	unknown	Het
Saxo4	T	C	19: 10,459,618 (GRCm39)	T30A	probably damaging	Het
Serpina1b	A	T	12: 103,696,774 (GRCm39)	W212R	probably damaging	Het
Slc9a3	G	A	13: 74,308,395 (GRCm39)	R466H	possibly damaging	Het
Sned1	T	C	1: 93,163,760 (GRCm39)	L17P	unknown	Het
Speg	C	T	1: 75,382,959 (GRCm39)	T1056I	probably damaging	Het
Tada1	T	C	1: 166,219,540 (GRCm39)	F281L	probably benign	Het
Tbcd	G	A	11: 121,494,534 (GRCm39)	V1032I	probably benign	Het
Tlr3	A	T	8: 45,852,088 (GRCm39)	S270T	probably benign	Het
Txndc15	G	T	13: 55,873,621 (GRCm39)	R327L	probably damaging	Het
Zfp169	G	C	13: 48,651,859 (GRCm39)	L66V	probably damaging	Het
Zfp442	G	T	2: 150,252,917 (GRCm39)	Y45*	probably null	Het
Zzef1	A	G	11: 72,784,104 (GRCm39)	D2003G	probably benign	Het

Other mutations in Gdpgp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Gdpgp1	APN	7	79,889,100 (GRCm39)	missense	probably damaging	1.00
IGL02079:Gdpgp1	APN	7	79,888,768 (GRCm39)	missense	probably benign	0.01
IGL02641:Gdpgp1	APN	7	79,888,796 (GRCm39)	nonsense	probably null
IGL03209:Gdpgp1	APN	7	79,888,847 (GRCm39)	missense	probably damaging	1.00
IGL03356:Gdpgp1	APN	7	79,888,443 (GRCm39)	missense	possibly damaging	0.89
R1158:Gdpgp1	UTSW	7	79,888,250 (GRCm39)	missense	probably benign	0.01
R1652:Gdpgp1	UTSW	7	79,889,112 (GRCm39)	missense	probably benign	0.20
R1851:Gdpgp1	UTSW	7	79,888,349 (GRCm39)	missense	probably damaging	0.97
R1872:Gdpgp1	UTSW	7	79,888,172 (GRCm39)	missense	probably benign	0.00
R6119:Gdpgp1	UTSW	7	79,888,740 (GRCm39)	missense	probably damaging	1.00
R6318:Gdpgp1	UTSW	7	79,888,898 (GRCm39)	missense	possibly damaging	0.89
R7936:Gdpgp1	UTSW	7	79,888,826 (GRCm39)	missense	probably damaging	0.98
R7940:Gdpgp1	UTSW	7	79,888,953 (GRCm39)	missense	probably damaging	1.00
R8109:Gdpgp1	UTSW	7	79,888,581 (GRCm39)	missense	probably damaging	1.00
R8798:Gdpgp1	UTSW	7	79,888,725 (GRCm39)	missense	probably damaging	1.00
R8882:Gdpgp1	UTSW	7	79,888,704 (GRCm39)	missense	possibly damaging	0.50
R9094:Gdpgp1	UTSW	7	79,888,216 (GRCm39)	missense	probably benign	0.00
R9100:Gdpgp1	UTSW	7	79,888,282 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTACCACTATCCCGTTTCGAC -3'
(R):5'- CTCAGTAGGACAGCTTCTAGCC -3'

Sequencing Primer
(F):5'- ACTATCCCGTTTCGACTCTGC -3'
(R):5'- AGCACTCCAGGCAGCAG -3'

Posted On

2019-11-12