Incidental Mutation 'IGL01827:Pygm'
ID 154692
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygm
Ensembl Gene ENSMUSG00000032648
Gene Name muscle glycogen phosphorylase
Synonyms PG
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01827
Quality Score
Status
Chromosome 19
Chromosomal Location 6434438-6448494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6440407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 484 (T484A)
Ref Sequence ENSEMBL: ENSMUSP00000047564 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035269] [ENSMUST00000113483]
AlphaFold Q9WUB3
Predicted Effect probably damaging
Transcript: ENSMUST00000035269
AA Change: T484A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000047564
Gene: ENSMUSG00000032648
AA Change: T484A

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000113483
AA Change: T396A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109111
Gene: ENSMUSG00000032648
AA Change: T396A

DomainStartEndE-ValueType
Pfam:Phosphorylase 62 742 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142755
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a glycolysis enzyme found in muscle. Highly similar enzymes encoded by different genes are found in liver and brain. The encoded protein is involved in regulating the breakdown of glycogen to glucose-1-phosphate, which is necessary for ATP generation. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null mutation exhibit massive muscle glycogen accumulation, elevated creatine kinase levels in blood, and very poor exercise performance. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A4galt A T 15: 83,112,135 (GRCm39) I216N possibly damaging Het
Catsperb A C 12: 101,557,799 (GRCm39) Y790S probably benign Het
Cfap161 T C 7: 83,442,648 (GRCm39) Q55R possibly damaging Het
Col6a3 T C 1: 90,730,041 (GRCm39) D1148G probably damaging Het
Dennd4a C T 9: 64,749,843 (GRCm39) R145* probably null Het
Hrh3 T C 2: 179,745,739 (GRCm39) N69S possibly damaging Het
Lipn A T 19: 34,046,880 (GRCm39) I61F probably damaging Het
Lrwd1 C A 5: 136,160,372 (GRCm39) E321* probably null Het
Ltk C T 2: 119,583,219 (GRCm39) V343M probably damaging Het
Mafb C T 2: 160,208,398 (GRCm39) V67M probably damaging Het
Nip7 A T 8: 107,783,723 (GRCm39) probably null Het
Polrmt T C 10: 79,573,954 (GRCm39) T964A probably damaging Het
Snx9 G A 17: 5,937,287 (GRCm39) D10N probably benign Het
Tek A C 4: 94,627,882 (GRCm39) D2A probably benign Het
Ttn T C 2: 76,624,828 (GRCm39) D15250G probably damaging Het
Usp34 G A 11: 23,386,020 (GRCm39) R2149H probably damaging Het
Vmn2r74 T A 7: 85,606,800 (GRCm39) H182L probably benign Het
Zgrf1 T C 3: 127,409,930 (GRCm39) V1739A probably benign Het
Other mutations in Pygm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01123:Pygm APN 19 6,441,424 (GRCm39) missense probably benign
IGL01743:Pygm APN 19 6,443,024 (GRCm39) splice site probably null
IGL02032:Pygm APN 19 6,438,117 (GRCm39) missense probably benign 0.23
IGL02261:Pygm APN 19 6,438,301 (GRCm39) missense probably damaging 1.00
IGL02431:Pygm APN 19 6,438,148 (GRCm39) missense probably damaging 1.00
IGL02511:Pygm APN 19 6,435,718 (GRCm39) missense probably benign 0.22
IGL02967:Pygm APN 19 6,443,868 (GRCm39) missense probably damaging 1.00
IGL03081:Pygm APN 19 6,438,851 (GRCm39) missense possibly damaging 0.53
R0336:Pygm UTSW 19 6,438,788 (GRCm39) missense probably damaging 1.00
R0415:Pygm UTSW 19 6,441,396 (GRCm39) missense probably benign 0.06
R0799:Pygm UTSW 19 6,436,048 (GRCm39) intron probably benign
R1445:Pygm UTSW 19 6,439,917 (GRCm39) missense probably benign 0.20
R1752:Pygm UTSW 19 6,441,064 (GRCm39) missense probably damaging 0.99
R1828:Pygm UTSW 19 6,447,637 (GRCm39) missense possibly damaging 0.72
R2054:Pygm UTSW 19 6,438,185 (GRCm39) missense probably benign 0.02
R2086:Pygm UTSW 19 6,441,511 (GRCm39) critical splice donor site probably null
R2116:Pygm UTSW 19 6,436,438 (GRCm39) missense probably damaging 0.98
R2431:Pygm UTSW 19 6,443,815 (GRCm39) missense probably damaging 1.00
R2516:Pygm UTSW 19 6,447,631 (GRCm39) missense probably benign 0.20
R3938:Pygm UTSW 19 6,442,980 (GRCm39) missense probably benign 0.42
R4609:Pygm UTSW 19 6,441,439 (GRCm39) missense possibly damaging 0.92
R4924:Pygm UTSW 19 6,443,754 (GRCm39) missense probably damaging 1.00
R4995:Pygm UTSW 19 6,448,169 (GRCm39) missense probably damaging 1.00
R5225:Pygm UTSW 19 6,439,494 (GRCm39) missense probably benign 0.01
R5296:Pygm UTSW 19 6,434,609 (GRCm39) missense probably damaging 1.00
R5437:Pygm UTSW 19 6,440,412 (GRCm39) missense probably damaging 1.00
R5994:Pygm UTSW 19 6,448,073 (GRCm39) critical splice acceptor site probably null
R6030:Pygm UTSW 19 6,438,842 (GRCm39) missense possibly damaging 0.78
R6030:Pygm UTSW 19 6,438,842 (GRCm39) missense possibly damaging 0.78
R6188:Pygm UTSW 19 6,447,967 (GRCm39) splice site probably null
R6266:Pygm UTSW 19 6,448,169 (GRCm39) missense probably damaging 1.00
R6799:Pygm UTSW 19 6,448,157 (GRCm39) missense probably damaging 1.00
R6855:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R6856:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R6857:Pygm UTSW 19 6,443,787 (GRCm39) missense probably damaging 1.00
R7223:Pygm UTSW 19 6,438,893 (GRCm39) missense probably benign
R7256:Pygm UTSW 19 6,435,926 (GRCm39) missense probably benign 0.01
R7263:Pygm UTSW 19 6,438,357 (GRCm39) missense probably damaging 1.00
R7398:Pygm UTSW 19 6,435,966 (GRCm39) missense probably damaging 1.00
R8093:Pygm UTSW 19 6,436,072 (GRCm39) missense probably damaging 1.00
R8351:Pygm UTSW 19 6,438,117 (GRCm39) missense possibly damaging 0.83
R8499:Pygm UTSW 19 6,440,392 (GRCm39) missense probably damaging 0.99
R8967:Pygm UTSW 19 6,434,744 (GRCm39) missense probably damaging 1.00
R9331:Pygm UTSW 19 6,448,129 (GRCm39) missense probably damaging 1.00
R9656:Pygm UTSW 19 6,438,187 (GRCm39) missense probably benign 0.00
Posted On 2014-02-04