Incidental Mutation 'R4206:Gyg'
ID 318903
Institutional Source Beutler Lab
Gene Symbol Gyg
Ensembl Gene ENSMUSG00000019528
Gene Name glycogenin
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 20122084-20155317 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20152737 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 90 (S90P)
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: S90P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000114019
Gene: ENSMUSG00000019528
AA Change: S90P

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: S46P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136035
Gene: ENSMUSG00000019528
AA Change: S46P

Pfam:Glyco_transf_8 6 224 2.7e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000184552
AA Change: S67P
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,473,515 K81R probably benign Het
Acacb T C 5: 114,213,651 F1150L probably benign Het
Acat3 A G 17: 12,927,386 Y237H possibly damaging Het
Arfgap3 T C 15: 83,322,668 T240A probably benign Het
Cabin1 T C 10: 75,754,841 S23G possibly damaging Het
Clasp1 A G 1: 118,578,906 N949S probably damaging Het
Csrp1 T G 1: 135,745,327 C61G probably damaging Het
Dgka A T 10: 128,721,195 L637Q probably damaging Het
Dst G A 1: 34,212,247 R1801H probably damaging Het
Edil3 T C 13: 89,180,278 S284P probably damaging Het
Eif2d A G 1: 131,154,363 Y64C probably damaging Het
Ell2 A G 13: 75,761,948 D139G probably damaging Het
Fam187a A G 11: 102,886,212 R281G probably damaging Het
Gin1 A G 1: 97,792,420 D380G possibly damaging Het
Gpr149 T G 3: 62,604,503 D25A possibly damaging Het
Hpx C T 7: 105,595,147 M190I probably null Het
Irf2bpl C T 12: 86,883,036 V288I probably benign Het
Lyst A G 13: 13,635,989 H748R probably benign Het
Mmrn1 G A 6: 60,958,180 G220D probably damaging Het
Mpdz A T 4: 81,381,762 M333K probably benign Het
Muc5ac C T 7: 141,817,110 S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 84,716,247 probably null Het
Ntsr1 A G 2: 180,500,752 D112G probably damaging Het
Olfr1410 A C 1: 92,608,595 T253P possibly damaging Het
Olfr657 T A 7: 104,636,149 N158K possibly damaging Het
Olfr8 T C 10: 78,955,283 F26S probably benign Het
Parg A G 14: 32,254,536 K178R probably benign Het
Pde8b C A 13: 95,222,545 C90F probably benign Het
Pld1 G A 3: 28,120,783 V857I probably benign Het
Rad54l2 A C 9: 106,717,795 V321G probably damaging Het
Rcn2 A G 9: 56,045,207 Y112C possibly damaging Het
Rnf123 A T 9: 108,063,963 D639E probably benign Het
Rufy2 C T 10: 63,004,772 Q441* probably null Het
Scgb2b12 T C 7: 32,326,638 Y43C probably damaging Het
Scrn3 T A 2: 73,319,501 probably null Het
Shroom3 G T 5: 92,943,086 V1151F probably damaging Het
Slc22a8 T C 19: 8,608,233 S321P probably benign Het
Tex11 C A X: 100,933,415 A487S possibly damaging Het
Tex2 A G 11: 106,567,572 probably benign Het
Tmem2 G T 19: 21,842,115 R1090L probably damaging Het
Trip13 A G 13: 73,932,890 I119T probably benign Het
Tsku C T 7: 98,352,998 R42H probably damaging Het
Ttn A G 2: 76,772,567 I16691T possibly damaging Het
Tyr A G 7: 87,429,068 L528P possibly damaging Het
Ubxn2b T C 4: 6,204,565 V142A probably damaging Het
Uggt2 C T 14: 119,049,262 D221N probably damaging Het
Wnt4 A G 4: 137,296,343 K207R possibly damaging Het
Zfp608 T C 18: 54,988,195 R107G probably damaging Het
Other mutations in Gyg
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01099:Gyg APN 3 20151047 missense probably benign 0.22
R1698:Gyg UTSW 3 20138051 missense probably benign 0.03
R1845:Gyg UTSW 3 20151122 missense probably damaging 0.96
R2207:Gyg UTSW 3 20150539 missense probably damaging 1.00
R3930:Gyg UTSW 3 20155025 missense probably benign 0.26
R5040:Gyg UTSW 3 20122659 utr 3 prime probably benign
R7851:Gyg UTSW 3 20122747 missense probably benign
R8413:Gyg UTSW 3 20125455 missense probably damaging 1.00
R9093:Gyg UTSW 3 20122737 missense probably damaging 1.00
R9647:Gyg UTSW 3 20122843 missense probably benign 0.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-06-10