Incidental Mutation 'R7237:Gys1'
ID 562896
Institutional Source Beutler Lab
Gene Symbol Gys1
Ensembl Gene ENSMUSG00000003865
Gene Name glycogen synthase 1, muscle
Synonyms MGS, Gys3
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 45084268-45106043 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45104586 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 671 (D671G)
Ref Sequence ENSEMBL: ENSMUSP00000003964 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003964] [ENSMUST00000094434] [ENSMUST00000210106] [ENSMUST00000210864] [ENSMUST00000211150]
AlphaFold Q9Z1E4
Predicted Effect probably benign
Transcript: ENSMUST00000003964
AA Change: D671G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: D671G

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: ENSMUST00000094434
SMART Domains Protein: ENSMUSP00000092002
Gene: ENSMUSG00000050708

DomainStartEndE-ValueType
Pfam:Ferritin 14 155 4.4e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000209640
Predicted Effect probably benign
Transcript: ENSMUST00000210106
Predicted Effect probably benign
Transcript: ENSMUST00000210864
Predicted Effect probably benign
Transcript: ENSMUST00000211150
AA Change: D607G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rbm20 C T 19: 53,839,930 (GRCm39) T973M probably benign Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q probably damaging 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
R0284:Gys1 UTSW 7 45,086,143 (GRCm39) unclassified probably benign
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
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'- AGTTAGTGGACACCTCTAGGG -3'
(R):5'- AGCTTAGTTGCGCTCCTCAC -3'

Sequencing Primer
(F):5'- TCTAGGGACTTAAATGGCACC -3'
(R):5'- ACTGGTAGGACTCAGGGGCTC -3'
Posted On 2019-06-26