Incidental Mutation 'IGL00903:Pygl'
ID28699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygl
Ensembl Gene ENSMUSG00000021069
Gene Nameliver glycogen phosphorylase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.411) question?
Stock #IGL00903
Quality Score
Status
Chromosome12
Chromosomal Location70190811-70231488 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 70207742 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 143 (Y143C)
Ref Sequence ENSEMBL: ENSMUSP00000125585 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071250] [ENSMUST00000161083]
Predicted Effect probably damaging
Transcript: ENSMUST00000071250
AA Change: Y234C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000071231
Gene: ENSMUSG00000021069
AA Change: Y234C

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000161083
AA Change: Y143C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125585
Gene: ENSMUSG00000021069
AA Change: Y143C

DomainStartEndE-ValueType
Pfam:Phosphorylase 21 739 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161840
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222093
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 homodimeric protein that catalyses the cleavage of alpha-1,4-glucosidic bonds to release glucose-1-phosphate from liver glycogen stores. This protein switches from inactive phosphorylase B to active phosphorylase A by phosphorylation of serine residue 15. Activity of this enzyme is further regulated by multiple allosteric effectors and hormonal controls. Humans have three glycogen phosphorylase genes that encode distinct isozymes that are primarily expressed in liver, brain and muscle, respectively. The liver isozyme serves the glycemic demands of the body in general while the brain and muscle isozymes supply just those tissues. In glycogen storage disease type VI, also known as Hers disease, mutations in liver glycogen phosphorylase inhibit the conversion of glycogen to glucose and results in moderate hypoglycemia, mild ketosis, growth retardation and hepatomegaly. Alternative splicing results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500012F01Rik G T 2: 167,065,486 probably benign Het
Arsk A G 13: 76,098,368 probably null Het
As3mt A G 19: 46,712,234 I159V probably benign Het
Ctsll3 C A 13: 60,800,261 V201L probably benign Het
Dapk1 T C 13: 60,761,397 Y1275H probably damaging Het
Erap1 G A 13: 74,673,707 R727H probably benign Het
Fam173b T C 15: 31,606,115 V73A possibly damaging Het
Fcrl6 T A 1: 172,599,107 T91S probably benign Het
Gvin1 T C 7: 106,158,170 E2364G probably benign Het
Hacd3 T C 9: 65,004,253 probably benign Het
Hcls1 T A 16: 36,956,021 probably null Het
Igf2r C T 17: 12,683,867 R2432H possibly damaging Het
Kif27 C A 13: 58,344,672 V218F possibly damaging Het
Klhl20 T C 1: 161,090,506 Y70C probably benign Het
Krt86 C T 15: 101,473,860 H104Y probably benign Het
Lcn12 G T 2: 25,493,320 N15K possibly damaging Het
Mrgpra1 T C 7: 47,335,578 M118V probably benign Het
Nacad G T 11: 6,600,632 T853K probably damaging Het
Nos3 A T 5: 24,369,862 Q293L probably damaging Het
Prkca C T 11: 107,983,974 V381M probably damaging Het
Ptcd3 A G 6: 71,907,844 F37S possibly damaging Het
Ptgs2 A G 1: 150,104,424 Y371C probably damaging Het
Samhd1 A G 2: 157,107,423 probably benign Het
Scube1 T A 15: 83,703,501 H89L probably damaging Het
Tmem59l G A 8: 70,485,665 probably benign Het
Vmn2r108 A G 17: 20,462,512 V810A probably damaging Het
Vmn2r61 T G 7: 42,300,511 F785C probably damaging Het
Other mutations in Pygl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00425:Pygl APN 12 70191092 missense probably damaging 1.00
IGL01965:Pygl APN 12 70191114 missense probably benign 0.00
IGL02347:Pygl APN 12 70201892 missense probably benign 0.14
IGL02403:Pygl APN 12 70194258 missense probably benign
IGL02501:Pygl APN 12 70191134 missense probably benign 0.05
IGL02727:Pygl APN 12 70207668 splice site probably null
IGL03125:Pygl APN 12 70197482 missense probably damaging 1.00
IGL03158:Pygl APN 12 70195675 missense probably damaging 1.00
IGL03202:Pygl APN 12 70199646 missense probably benign
IGL03368:Pygl APN 12 70191152 missense probably benign
R0096:Pygl UTSW 12 70191166 splice site probably benign
R0096:Pygl UTSW 12 70191166 splice site probably benign
R0524:Pygl UTSW 12 70207724 missense probably damaging 1.00
R0883:Pygl UTSW 12 70206404 missense probably damaging 0.97
R0894:Pygl UTSW 12 70194374 splice site probably benign
R0905:Pygl UTSW 12 70211017 splice site probably benign
R1494:Pygl UTSW 12 70199730 missense probably damaging 0.98
R1621:Pygl UTSW 12 70191092 missense probably damaging 1.00
R1647:Pygl UTSW 12 70197010 missense possibly damaging 0.60
R3082:Pygl UTSW 12 70197529 missense probably damaging 1.00
R3845:Pygl UTSW 12 70198443 missense probably benign 0.12
R3876:Pygl UTSW 12 70201339 missense probably damaging 1.00
R4358:Pygl UTSW 12 70195690 missense probably damaging 1.00
R4614:Pygl UTSW 12 70210979 intron probably null
R4707:Pygl UTSW 12 70207758 missense possibly damaging 0.69
R4908:Pygl UTSW 12 70197033 missense probably null
R4940:Pygl UTSW 12 70206381 missense probably damaging 1.00
R5077:Pygl UTSW 12 70201892 missense probably benign 0.14
R5186:Pygl UTSW 12 70201344 missense probably damaging 1.00
R5726:Pygl UTSW 12 70191142 nonsense probably null
R5953:Pygl UTSW 12 70219627 missense probably damaging 1.00
R5957:Pygl UTSW 12 70199720 missense probably damaging 0.99
R6020:Pygl UTSW 12 70216654 missense probably damaging 1.00
R6024:Pygl UTSW 12 70197067 missense probably benign 0.09
Posted On2013-04-17