Incidental Mutation 'R0284:Gys1'
ID 24607
Institutional Source Beutler Lab
Gene Symbol Gys1
Ensembl Gene ENSMUSG00000003865
Gene Name glycogen synthase 1, muscle
Synonyms MGS, Gys3
MMRRC Submission 038505-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0284 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 45084268-45106043 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 45086143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148040 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000107771] [ENSMUST00000210439] [ENSMUST00000211150] [ENSMUST00000211214] [ENSMUST00000211666]
AlphaFold Q9Z1E4
Predicted Effect probably benign
Transcript: ENSMUST00000003964
SMART Domains Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865

DomainStartEndE-ValueType
low complexity region 3 12 N/A INTRINSIC
Pfam:Glyco_transf_5 28 274 5.2e-8 PFAM
Pfam:Glycogen_syn 31 663 N/A PFAM
low complexity region 670 686 N/A INTRINSIC
low complexity region 698 711 N/A INTRINSIC
low complexity region 716 733 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107771
SMART Domains Protein: ENSMUSP00000103400
Gene: ENSMUSG00000003868

DomainStartEndE-ValueType
AAA 69 361 5.17e-10 SMART
Blast:AAA 373 417 3e-17 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000210439
Predicted Effect probably benign
Transcript: ENSMUST00000211150
Predicted Effect probably benign
Transcript: ENSMUST00000211214
Predicted Effect probably benign
Transcript: ENSMUST00000211666
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.9%
  • 20x: 92.4%
Validation Efficiency 100% (61/61)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display neonatal lethality due to impaired cardiac function and exhibit reduced reduced ventricular chamber size, dilated atria, vascular congestion, and liver hemorrhage. Mice homozygous for a knock-in allele show altered glycogen homeostasis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alkbh6 A G 7: 30,013,413 (GRCm39) T161A probably benign Het
Alox12e A G 11: 70,211,725 (GRCm39) probably benign Het
Ap1g2 A G 14: 55,339,149 (GRCm39) probably benign Het
Arid2 A T 15: 96,276,848 (GRCm39) probably benign Het
Bmp2k A T 5: 97,216,314 (GRCm39) H604L unknown Het
Cacna1a A T 8: 85,338,914 (GRCm39) M1705L probably damaging Het
Cacna1d A T 14: 29,794,062 (GRCm39) D1526E probably damaging Het
Ccdc171 A G 4: 83,467,975 (GRCm39) R107G possibly damaging Het
Cklf T C 8: 104,988,207 (GRCm39) probably benign Het
Crabp1 A G 9: 54,672,210 (GRCm39) K9E probably benign Het
Cspg4 A G 9: 56,793,423 (GRCm39) D386G probably damaging Het
Cyp3a41b G A 5: 145,515,014 (GRCm39) probably benign Het
Dsg1a T A 18: 20,464,684 (GRCm39) V393E probably damaging Het
Ednrb C T 14: 104,057,449 (GRCm39) G371D probably damaging Het
Efcab5 T C 11: 76,994,353 (GRCm39) probably benign Het
Exoc2 A T 13: 31,061,608 (GRCm39) probably benign Het
Fbn2 G A 18: 58,183,362 (GRCm39) probably benign Het
Foxo6 T C 4: 120,126,199 (GRCm39) S199G probably benign Het
Fpr1 T A 17: 18,097,618 (GRCm39) I124F probably damaging Het
Gk5 A T 9: 96,063,823 (GRCm39) probably null Het
Igfbp1 T C 11: 7,148,103 (GRCm39) S49P probably damaging Het
Incenp A T 19: 9,871,357 (GRCm39) S91T unknown Het
Itpkc G A 7: 26,913,968 (GRCm39) R498* probably null Het
Kat6a A G 8: 23,429,819 (GRCm39) T1725A unknown Het
Kiz T A 2: 146,705,730 (GRCm39) C97S probably benign Het
Kri1 A G 9: 21,187,848 (GRCm39) probably benign Het
Lipn A G 19: 34,058,106 (GRCm39) S276G possibly damaging Het
Llgl1 A G 11: 60,602,967 (GRCm39) T881A probably damaging Het
Man1a2 T C 3: 100,592,102 (GRCm39) H26R probably damaging Het
Map3k5 T A 10: 19,876,359 (GRCm39) F173I probably damaging Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Mipol1 A G 12: 57,503,855 (GRCm39) Q341R probably damaging Het
Mllt6 G T 11: 97,569,431 (GRCm39) A928S probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nipsnap3a C T 4: 52,997,178 (GRCm39) T150I probably benign Het
Nsl1 A G 1: 190,797,427 (GRCm39) E97G probably damaging Het
Or11j4 G A 14: 50,630,452 (GRCm39) V80M probably damaging Het
Or4f54 T C 2: 111,122,931 (GRCm39) V106A probably benign Het
Or7g18 A T 9: 18,786,848 (GRCm39) Y72F probably benign Het
Or8c11 G A 9: 38,289,880 (GRCm39) M234I probably benign Het
Pakap T C 4: 57,855,207 (GRCm39) F220L probably damaging Het
Pdcd6ip A G 9: 113,491,572 (GRCm39) L552S probably damaging Het
Plekhf2 T C 4: 10,990,595 (GRCm39) probably benign Het
Prdm1 T C 10: 44,332,622 (GRCm39) E96G probably damaging Het
Prpf40a T A 2: 53,040,659 (GRCm39) E608D probably damaging Het
Prpf40b A T 15: 99,214,274 (GRCm39) probably benign Het
Rag2 T C 2: 101,460,464 (GRCm39) V258A probably damaging Het
S100a5 A G 3: 90,518,881 (GRCm39) I68V probably benign Het
Serpinb8 G A 1: 107,530,648 (GRCm39) probably null Het
Slc24a4 T C 12: 102,226,740 (GRCm39) V492A probably damaging Het
Spag6l T A 16: 16,598,630 (GRCm39) Q287L probably damaging Het
Spmip6 T G 4: 41,507,538 (GRCm39) E150A probably damaging Het
Synpo2 C T 3: 122,873,383 (GRCm39) W211* probably null Het
Tgtp1 A G 11: 48,877,970 (GRCm39) V245A probably benign Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Trerf1 A G 17: 47,630,471 (GRCm39) noncoding transcript Het
Ttn G C 2: 76,677,048 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vps13d A T 4: 144,871,372 (GRCm39) M1900K probably benign Het
Vps41 A T 13: 19,037,610 (GRCm39) D691V probably damaging Het
Zfp518b T C 5: 38,829,083 (GRCm39) Y974C probably damaging Het
Zscan29 A T 2: 120,997,214 (GRCm39) probably benign Het
Other mutations in Gys1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Gys1 APN 7 45,094,256 (GRCm39) missense possibly damaging 0.88
IGL00870:Gys1 APN 7 45,097,437 (GRCm39) critical splice donor site probably null
IGL01346:Gys1 APN 7 45,091,961 (GRCm39) missense probably damaging 1.00
IGL02396:Gys1 APN 7 45,089,012 (GRCm39) missense probably damaging 1.00
IGL03157:Gys1 APN 7 45,089,323 (GRCm39) unclassified probably benign
IGL03196:Gys1 APN 7 45,104,241 (GRCm39) splice site probably benign
R0095:Gys1 UTSW 7 45,094,073 (GRCm39) missense possibly damaging 0.87
R0537:Gys1 UTSW 7 45,089,425 (GRCm39) missense probably damaging 1.00
R0622:Gys1 UTSW 7 45,089,419 (GRCm39) missense probably damaging 1.00
R1749:Gys1 UTSW 7 45,089,456 (GRCm39) missense probably damaging 1.00
R1968:Gys1 UTSW 7 45,092,970 (GRCm39) missense probably damaging 1.00
R3953:Gys1 UTSW 7 45,089,470 (GRCm39) missense probably damaging 1.00
R4058:Gys1 UTSW 7 45,097,810 (GRCm39) splice site probably benign
R4626:Gys1 UTSW 7 45,088,958 (GRCm39) missense probably damaging 1.00
R4661:Gys1 UTSW 7 45,104,258 (GRCm39) missense probably damaging 1.00
R4998:Gys1 UTSW 7 45,100,968 (GRCm39) intron probably benign
R5965:Gys1 UTSW 7 45,104,763 (GRCm39) missense probably benign 0.25
R5987:Gys1 UTSW 7 45,087,529 (GRCm39) missense probably benign 0.00
R6059:Gys1 UTSW 7 45,104,712 (GRCm39) splice site probably null
R6481:Gys1 UTSW 7 45,092,393 (GRCm39) missense possibly damaging 0.63
R6788:Gys1 UTSW 7 45,094,102 (GRCm39) missense probably damaging 0.99
R6924:Gys1 UTSW 7 45,093,059 (GRCm39) critical splice donor site probably null
R7006:Gys1 UTSW 7 45,089,437 (GRCm39) missense probably damaging 1.00
R7029:Gys1 UTSW 7 45,089,008 (GRCm39) missense possibly damaging 0.93
R7060:Gys1 UTSW 7 45,089,437 (GRCm39) missense probably damaging 1.00
R7211:Gys1 UTSW 7 45,097,684 (GRCm39) missense possibly damaging 0.88
R7237:Gys1 UTSW 7 45,104,586 (GRCm39) missense probably benign 0.02
R7242:Gys1 UTSW 7 45,089,092 (GRCm39) splice site probably null
R7593:Gys1 UTSW 7 45,092,360 (GRCm39) missense probably damaging 0.99
R7641:Gys1 UTSW 7 45,104,495 (GRCm39) missense probably damaging 0.98
R7674:Gys1 UTSW 7 45,104,495 (GRCm39) missense probably damaging 0.98
R7756:Gys1 UTSW 7 45,097,726 (GRCm39) missense probably benign 0.43
R8197:Gys1 UTSW 7 45,092,348 (GRCm39) missense possibly damaging 0.80
R9082:Gys1 UTSW 7 45,088,917 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCCATTACCTGCCAGGTCTCAAAG -3'
(R):5'- GCCTAGCTCCAGCTTGTTTGTAGTC -3'

Sequencing Primer
(F):5'- TGCCAGGTCTCAAAGCTATG -3'
(R):5'- GAGATTCATCTCCATCCATCTGG -3'
Posted On 2013-04-16