Incidental Mutation 'IGL00979:Pygb'
ID27024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pygb
Ensembl Gene ENSMUSG00000033059
Gene Namebrain glycogen phosphorylase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.168) question?
Stock #IGL00979
Quality Score
Status
Chromosome2
Chromosomal Location150786735-150831758 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 150819913 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 520 (K520E)
Ref Sequence ENSEMBL: ENSMUSP00000035743 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045441]
Predicted Effect probably benign
Transcript: ENSMUST00000045441
AA Change: K520E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000035743
Gene: ENSMUSG00000033059
AA Change: K520E

DomainStartEndE-ValueType
Pfam:Phosphorylase 113 829 N/A PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129610
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154366
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a glycogen phosphorylase found predominantly in the brain. The encoded protein forms homodimers which can associate into homotetramers, the enzymatically active form of glycogen phosphorylase. The activity of this enzyme is positively regulated by AMP and negatively regulated by ATP, ADP, and glucose-6-phosphate. This enzyme catalyzes the rate-determining step in glycogen degradation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427I04Rik A T 4: 123,860,545 K84M probably damaging Het
A4gnt T A 9: 99,620,436 Y216* probably null Het
Abcb1b A G 5: 8,825,293 probably benign Het
Ankrd50 G A 3: 38,452,414 probably benign Het
Catsperb A G 12: 101,415,325 T89A probably benign Het
Ccdc15 C T 9: 37,316,490 S236N probably benign Het
Cd34 A C 1: 194,949,508 T151P possibly damaging Het
Col28a1 A T 6: 8,014,810 V865E probably damaging Het
Csf2rb T A 15: 78,348,104 V537E probably damaging Het
Cux2 A G 5: 121,873,714 F553L probably damaging Het
Dolk A T 2: 30,284,731 L434Q probably damaging Het
Dsg2 C A 18: 20,582,767 D255E probably damaging Het
Endov T C 11: 119,500,618 V144A probably damaging Het
Grik2 T C 10: 49,355,938 N499D probably damaging Het
Hephl1 G T 9: 15,067,045 T855K probably benign Het
Hif1a A G 12: 73,942,010 D557G probably damaging Het
Idh1 G A 1: 65,171,149 T75I probably damaging Het
Ighv1-37 A G 12: 114,896,450 S47P probably benign Het
Irx4 A G 13: 73,268,222 probably benign Het
Itpr1 C T 6: 108,471,120 A1871V probably damaging Het
Klkb1 A G 8: 45,294,068 probably benign Het
Lrrc8e T C 8: 4,235,080 L435P probably damaging Het
Megf11 T A 9: 64,508,727 Y73N probably damaging Het
Nfe2 T C 15: 103,249,180 D128G probably damaging Het
Olfr1301 T A 2: 111,754,426 M59K probably damaging Het
Olfr535 A G 7: 140,492,701 E21G probably benign Het
Pak6 C A 2: 118,696,482 L653I probably damaging Het
Pde4dip T A 3: 97,747,758 probably benign Het
Pds5a A G 5: 65,631,723 V831A probably benign Het
Ppp1r32 T C 19: 10,474,499 *428W probably null Het
Prc1 G T 7: 80,307,696 probably null Het
Ptprs C T 17: 56,458,243 G14S probably damaging Het
Rimbp2 A G 5: 128,806,441 S92P probably benign Het
Samd4b A T 7: 28,414,213 L109Q probably damaging Het
Scn8a A T 15: 100,955,406 probably benign Het
Sdc3 A G 4: 130,818,680 I23V unknown Het
Sec61a2 A G 2: 5,872,020 Y350H possibly damaging Het
Slc4a3 A T 1: 75,554,247 Q759L probably damaging Het
Speg C T 1: 75,410,734 P1378L probably damaging Het
Spta1 T G 1: 174,208,390 Y1087* probably null Het
Tenm4 A G 7: 96,729,391 E401G probably damaging Het
Tom1 C A 8: 75,054,703 probably benign Het
Ttc3 T A 16: 94,456,718 V1273D probably damaging Het
Vmn2r106 G T 17: 20,277,575 D467E possibly damaging Het
Washc4 A T 10: 83,550,883 T124S probably benign Het
Zfp790 A G 7: 29,829,609 E573G probably benign Het
Other mutations in Pygb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01395:Pygb APN 2 150801583 missense probably benign 0.04
IGL01571:Pygb APN 2 150830473 missense probably benign 0.00
IGL01960:Pygb APN 2 150813483 missense probably benign 0.00
IGL03118:Pygb APN 2 150820811 missense probably benign 0.01
R0106:Pygb UTSW 2 150806203 missense probably benign 0.02
R0106:Pygb UTSW 2 150806203 missense probably benign 0.02
R0423:Pygb UTSW 2 150823984 missense probably benign
R0545:Pygb UTSW 2 150815706 missense probably benign 0.00
R0674:Pygb UTSW 2 150815134 splice site probably null
R1052:Pygb UTSW 2 150786938 missense probably benign 0.00
R1590:Pygb UTSW 2 150817663 missense possibly damaging 0.94
R1706:Pygb UTSW 2 150827147 missense probably damaging 1.00
R1786:Pygb UTSW 2 150816772 missense probably damaging 0.98
R2405:Pygb UTSW 2 150820775 missense probably benign 0.04
R3522:Pygb UTSW 2 150828553 missense probably benign 0.07
R4082:Pygb UTSW 2 150826471 critical splice donor site probably null
R4319:Pygb UTSW 2 150815614 splice site probably benign
R4662:Pygb UTSW 2 150815116 missense probably benign
R5072:Pygb UTSW 2 150801578 missense probably damaging 1.00
R5665:Pygb UTSW 2 150820888 splice site probably null
R5874:Pygb UTSW 2 150786878 missense probably benign 0.11
R5910:Pygb UTSW 2 150815700 missense probably benign 0.00
R6610:Pygb UTSW 2 150823966 splice site probably null
R6820:Pygb UTSW 2 150816754 missense possibly damaging 0.88
R7348:Pygb UTSW 2 150786983 missense probably benign 0.10
Posted On2013-04-17