Incidental Mutation 'IGL01099:Gyg1'
ID 50734
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gyg1
Ensembl Gene ENSMUSG00000019528
Gene Name glycogenin 1
Synonyms Gyg
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01099
Quality Score
Status
Chromosome 3
Chromosomal Location 20176248-20209228 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 20205211 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 119 (M119K)
Ref Sequence ENSEMBL: ENSMUSP00000114019 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000118015] [ENSMUST00000178328]
AlphaFold Q9R062
Predicted Effect probably benign
Transcript: ENSMUST00000118015
AA Change: M119K

PolyPhen 2 Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000114019
Gene: ENSMUSG00000019528
AA Change: M119K

DomainStartEndE-ValueType
Pfam:Glyco_transf_8 50 163 1.7e-9 PFAM
Pfam:Glyco_transf_8 160 268 1.6e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000178328
AA Change: M75K

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000136035
Gene: ENSMUSG00000019528
AA Change: M75K

DomainStartEndE-ValueType
Pfam:Glyco_transf_8 6 224 2.7e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000184552
AA Change: M96K
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the glycogenin family. Glycogenin is a glycosyltransferase that catalyzes the formation of a short glucose polymer from uridine diphosphate glucose in an autoglucosylation reaction. This reaction is followed by elongation and branching of the polymer, catalyzed by glycogen synthase and branching enzyme, to form glycogen. This gene is expressed in muscle and other tissues. Mutations in this gene result in glycogen storage disease XV. This gene has pseudogenes on chromosomes 1, 8 and 13 respectively. Alternatively spliced transcript variants encoding different isoforms have been identified.[provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,965,031 (GRCm39) probably benign Het
Adam28 A G 14: 68,874,778 (GRCm39) probably null Het
Adcy10 A G 1: 165,367,411 (GRCm39) I560M probably benign Het
Alpl G A 4: 137,470,624 (GRCm39) probably benign Het
Ank1 G A 8: 23,598,265 (GRCm39) G753D probably damaging Het
Arhgef28 A T 13: 98,090,480 (GRCm39) probably benign Het
Bmp7 A T 2: 172,717,055 (GRCm39) C329S probably damaging Het
Capn13 T C 17: 73,658,504 (GRCm39) D188G probably damaging Het
Car10 G A 11: 93,469,516 (GRCm39) E164K possibly damaging Het
Cfhr1 T A 1: 139,475,497 (GRCm39) probably benign Het
Col11a1 C T 3: 113,905,690 (GRCm39) R562* probably null Het
Colec12 C T 18: 9,848,826 (GRCm39) R335C probably damaging Het
Cyb561d2 C T 9: 107,417,488 (GRCm39) probably null Het
Epb41l3 A G 17: 69,517,188 (GRCm39) D72G possibly damaging Het
Etl4 T C 2: 20,811,922 (GRCm39) L1335P probably benign Het
F5 T G 1: 164,021,903 (GRCm39) N1459K probably damaging Het
Fam161a T C 11: 22,965,894 (GRCm39) probably benign Het
Flnc G A 6: 29,433,617 (GRCm39) V54M probably damaging Het
Fndc3b T C 3: 27,517,966 (GRCm39) I607V probably benign Het
Fscb A G 12: 64,518,875 (GRCm39) S864P unknown Het
Glod4 T A 11: 76,130,376 (GRCm39) K36* probably null Het
Gm6619 G A 6: 131,467,393 (GRCm39) R86Q possibly damaging Het
Gm7052 T C 17: 22,258,706 (GRCm39) probably benign Het
Ifit2 A T 19: 34,550,702 (GRCm39) I81F probably damaging Het
Insr T C 8: 3,308,682 (GRCm39) Y118C probably damaging Het
Katnip T A 7: 125,464,492 (GRCm39) H1286Q probably damaging Het
Kcnh3 T C 15: 99,137,617 (GRCm39) S771P probably benign Het
Kndc1 C A 7: 139,500,700 (GRCm39) H688Q probably damaging Het
Mybpc2 A G 7: 44,165,591 (GRCm39) C330R probably damaging Het
Naa50 A T 16: 43,976,832 (GRCm39) N23I probably damaging Het
Nt5el A T 13: 105,245,868 (GRCm39) H143L probably benign Het
Or55b4 T A 7: 102,133,685 (GRCm39) D214V probably damaging Het
Or5a1 A G 19: 12,097,240 (GRCm39) S279P probably damaging Het
Or8b48 T C 9: 38,493,373 (GRCm39) S267P probably benign Het
Or8c16 T C 9: 38,131,039 (GRCm39) S307P probably benign Het
Pfkp A T 13: 6,653,426 (GRCm39) probably benign Het
Phlda2 G A 7: 143,055,876 (GRCm39) probably null Het
Plxnd1 C A 6: 115,946,906 (GRCm39) V823L probably benign Het
Prpf40a T A 2: 53,031,847 (GRCm39) H794L probably benign Het
Ripor2 A T 13: 24,885,190 (GRCm39) H436L probably benign Het
Rnf138 T A 18: 21,153,970 (GRCm39) C159S possibly damaging Het
Scn7a A T 2: 66,514,582 (GRCm39) V1064D probably damaging Het
Slc12a2 T A 18: 58,039,092 (GRCm39) C557* probably null Het
Slc1a6 T C 10: 78,624,831 (GRCm39) S79P possibly damaging Het
Snapin G A 3: 90,397,909 (GRCm39) probably benign Het
Tdp1 A T 12: 99,881,704 (GRCm39) probably benign Het
Tigar G T 6: 127,065,108 (GRCm39) A180E probably benign Het
Trav6-2 A T 14: 52,905,122 (GRCm39) T48S probably benign Het
Ttn A G 2: 76,558,776 (GRCm39) Y29702H probably damaging Het
Ush1c A G 7: 45,854,686 (GRCm39) S689P probably damaging Het
Vmn1r40 A T 6: 89,691,578 (GRCm39) I132F probably damaging Het
Vmn1r85 T A 7: 12,818,461 (GRCm39) K228* probably null Het
Wdr33 C A 18: 32,039,842 (GRCm39) probably benign Het
Ybx2 A T 11: 69,831,556 (GRCm39) Q136L probably damaging Het
Ypel1 T A 16: 16,909,076 (GRCm39) M368L probably damaging Het
Other mutations in Gyg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1698:Gyg1 UTSW 3 20,192,215 (GRCm39) missense probably benign 0.03
R1845:Gyg1 UTSW 3 20,205,286 (GRCm39) missense probably damaging 0.96
R2207:Gyg1 UTSW 3 20,204,703 (GRCm39) missense probably damaging 1.00
R3930:Gyg1 UTSW 3 20,209,189 (GRCm39) missense probably benign 0.26
R4206:Gyg1 UTSW 3 20,206,901 (GRCm39) missense probably benign 0.00
R5040:Gyg1 UTSW 3 20,176,823 (GRCm39) utr 3 prime probably benign
R7851:Gyg1 UTSW 3 20,176,911 (GRCm39) missense probably benign
R8413:Gyg1 UTSW 3 20,179,619 (GRCm39) missense probably damaging 1.00
R9093:Gyg1 UTSW 3 20,176,901 (GRCm39) missense probably damaging 1.00
R9647:Gyg1 UTSW 3 20,177,007 (GRCm39) missense probably benign 0.00
Posted On 2013-06-21