Incidental Mutation 'IGL02079:Gdpgp1'
ID186059
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdpgp1
Ensembl Gene ENSMUSG00000050973
Gene NameGDP-D-glucose phosphorylase 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.102) question?
Stock #IGL02079
Quality Score
Status
Chromosome7
Chromosomal Location80232865-80242061 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 80239020 bp
ZygosityHeterozygous
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]
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
Posted On2014-05-07