Mutagenetix > Incidental Mutation

Incidental Mutation 'R1158:Gdpgp1'

101880

Institutional Source

Beutler Lab

Gene Symbol

Gdpgp1

Ensembl Gene

ENSMUSG00000050973

Gene Name

GDP-D-glucose phosphorylase 1

Synonyms

D330012F22Rik

MMRRC Submission

039231-MU

Accession Numbers

Essential gene?

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

Stock #

R1158 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

79882641-79891168 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 79888250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 94 (F94L)

Ref Sequence

ENSEMBL: ENSMUSP00000061808 (fasta)

Gene Model

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

AlphaFold

Q3TLS3

Predicted Effect

probably benign
Transcript: ENSMUST00000062915
AA Change: F94L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000061808
Gene: ENSMUSG00000050973
AA Change: F94L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000119674

Meta Mutation Damage Score

0.1797

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.3%

Validation Efficiency

98% (43/44)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adpgk	T	C	9: 59,217,566 (GRCm39)	V193A	possibly damaging	Het
Ahnak	A	C	19: 8,991,290 (GRCm39)	E4191D	probably benign	Het
BC024139	T	A	15: 76,004,542 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,184 (GRCm39)	I209S	probably benign	Het
Bst1	T	G	5: 43,997,834 (GRCm39)		probably null	Het
Cacna1c	C	T	6: 118,589,586 (GRCm39)	R1446H	probably damaging	Het
Carf	A	G	1: 60,186,998 (GRCm39)	K499E	probably benign	Het
Casq2	A	G	3: 102,024,199 (GRCm39)	E147G	probably damaging	Het
Cd8a	T	A	6: 71,350,712 (GRCm39)	V59D	probably damaging	Het
Chrm5	T	C	2: 112,310,214 (GRCm39)	T301A	probably benign	Het
Cog5	G	A	12: 31,920,056 (GRCm39)		probably benign	Het
Csmd3	T	C	15: 48,156,170 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,367,609 (GRCm39)	S31P	probably damaging	Het
Eif1ad9	A	T	12: 88,296,438 (GRCm39)	I139F	unknown	Het
Epb41	T	C	4: 131,727,502 (GRCm39)		probably benign	Het
Fhod3	C	T	18: 25,118,293 (GRCm39)	A210V	probably damaging	Het
Hlx	G	T	1: 184,464,184 (GRCm39)	A52D	probably damaging	Het
Htr3b	T	C	9: 48,847,390 (GRCm39)	K375R	possibly damaging	Het
Inhbe	G	A	10: 127,187,186 (GRCm39)	R77W	probably damaging	Het
Itgb8	T	C	12: 119,166,231 (GRCm39)	E100G	probably damaging	Het
Jakmip1	T	C	5: 37,248,472 (GRCm39)	V44A	possibly damaging	Het
Lrp12	A	G	15: 39,741,827 (GRCm39)	V315A	probably damaging	Het
Lrp1b	T	A	2: 40,567,506 (GRCm39)	T305S	unknown	Het
Map3k2	A	G	18: 32,350,211 (GRCm39)	T354A	probably benign	Het
Mmp16	T	C	4: 17,987,726 (GRCm39)		probably null	Het
Mphosph10	T	C	7: 64,038,607 (GRCm39)		probably benign	Het
Or10a48	A	G	7: 108,424,385 (GRCm39)	S274P	probably damaging	Het
Or10ak7	A	T	4: 118,791,614 (GRCm39)	C144S	probably damaging	Het
Or4c52	T	A	2: 89,845,598 (GRCm39)	I108N	possibly damaging	Het
Or4k47	T	C	2: 111,452,086 (GRCm39)	E111G	probably damaging	Het
Or5p52	G	A	7: 107,502,130 (GRCm39)	V69I	possibly damaging	Het
Slc43a3	C	A	2: 84,768,140 (GRCm39)	F37L	probably benign	Het
Slf2	G	T	19: 44,919,855 (GRCm39)	A36S	probably damaging	Het
Sorcs1	T	C	19: 50,132,598 (GRCm39)		probably benign	Het
Thsd7b	A	C	1: 130,117,672 (GRCm39)		probably null	Het
Tnfrsf18	A	C	4: 156,112,739 (GRCm39)	I142L	probably benign	Het
Ttn	A	G	2: 76,632,855 (GRCm39)		probably benign	Het
Tufm	T	A	7: 126,088,614 (GRCm39)		probably null	Het
Vmn2r69	A	T	7: 85,059,058 (GRCm39)		probably benign	Het
Zfp385c	T	C	11: 100,520,709 (GRCm39)		probably benign	Het
Zfp964	T	A	8: 70,116,503 (GRCm39)	C368S	unknown	Het
Zswim8	G	A	14: 20,771,736 (GRCm39)		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
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
R7679:Gdpgp1	UTSW	7	79,888,324 (GRCm39)	missense	probably benign	0.30
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

Posted On

2014-01-15