Incidental Mutation 'IGL02561:Phka1'
ID 298675
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phka1
Ensembl Gene ENSMUSG00000034055
Gene Name phosphorylase kinase alpha 1
Synonyms Phka, 9830108K24Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02561
Quality Score
Status
Chromosome X
Chromosomal Location 101557581-101687852 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 101641895 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112529 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043596] [ENSMUST00000052012] [ENSMUST00000113611] [ENSMUST00000119229] [ENSMUST00000120270] [ENSMUST00000122022]
AlphaFold P18826
Predicted Effect probably benign
Transcript: ENSMUST00000043596
SMART Domains Protein: ENSMUSP00000042778
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 864 5.6e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052012
SMART Domains Protein: ENSMUSP00000061991
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 6.8e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113611
SMART Domains Protein: ENSMUSP00000109241
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 6.5e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119229
SMART Domains Protein: ENSMUSP00000114066
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000120270
SMART Domains Protein: ENSMUSP00000113302
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.3e-196 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000122022
SMART Domains Protein: ENSMUSP00000112529
Gene: ENSMUSG00000034055

DomainStartEndE-ValueType
Pfam:Glyco_hydro_15 8 923 7.6e-196 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142534
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, and the skeletal muscle isoform is encoded by this gene. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, which are encoded by two different genes. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9D, also known as X-linked muscle glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene. A pseudogene has been found on chromosome 1.[provided by RefSeq, Feb 2010]
PHENOTYPE: PHK activity is nearly absent in I/Ln skeletal muscle and reduced in brain, heart and kidney. The I-allele sequence is known to have a single nucleotide insertion (frameshift). A different allele in strain V reduces PHK activity to 25% and is dominant tonormal and I-strain alleles. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T A 5: 105,125,536 (GRCm39) Q49L probably benign Het
Aifm2 A G 10: 61,561,786 (GRCm39) D44G probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cmya5 T C 13: 93,228,366 (GRCm39) T2241A probably benign Het
Cntn4 C T 6: 106,500,470 (GRCm39) P316S probably damaging Het
Ctnna2 G T 6: 77,822,563 (GRCm39) S13R probably benign Het
Cyb5a G A 18: 84,889,637 (GRCm39) G46D probably damaging Het
Daam1 T C 12: 71,993,290 (GRCm39) V353A unknown Het
Ddx6 C T 9: 44,545,465 (GRCm39) T417I probably damaging Het
Fcgbp C T 7: 27,800,599 (GRCm39) probably benign Het
Gdi2 T C 13: 3,598,954 (GRCm39) I46T possibly damaging Het
Gm3629 T C 14: 17,805,586 (GRCm39) probably benign Het
Grap2 A T 15: 80,532,049 (GRCm39) probably benign Het
Gsto2 T C 19: 47,874,629 (GRCm39) probably benign Het
Gtf2a1 A T 12: 91,542,527 (GRCm39) D57E possibly damaging Het
Hif1a A G 12: 73,988,980 (GRCm39) I622M possibly damaging Het
Hmcn1 T C 1: 150,685,477 (GRCm39) T328A probably benign Het
Ighv1-54 T C 12: 115,157,389 (GRCm39) K86R probably benign Het
Igkv4-55 C T 6: 69,584,360 (GRCm39) S84N probably damaging Het
Ilvbl T C 10: 78,412,978 (GRCm39) S167P probably benign Het
Kcnn2 A G 18: 45,725,259 (GRCm39) I252V possibly damaging Het
Lss T C 10: 76,376,264 (GRCm39) probably benign Het
Mlip C A 9: 77,088,633 (GRCm39) probably null Het
Ncbp1 C T 4: 46,159,711 (GRCm39) T408M possibly damaging Het
Notch4 A G 17: 34,787,134 (GRCm39) probably benign Het
Npepps A T 11: 97,120,675 (GRCm39) C528* probably null Het
Nxf2 T C X: 133,857,201 (GRCm39) T163A probably benign Het
Or4c119 T C 2: 88,987,485 (GRCm39) I11M possibly damaging Het
Ptpn13 T G 5: 103,710,157 (GRCm39) L1564R probably damaging Het
Robo3 A G 9: 37,338,387 (GRCm39) S343P possibly damaging Het
Smarca2 A G 19: 26,693,582 (GRCm39) D1262G possibly damaging Het
Spns1 C T 7: 125,972,941 (GRCm39) probably null Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Ttpal A G 2: 163,449,369 (GRCm39) T75A probably damaging Het
Usp34 A G 11: 23,301,652 (GRCm39) T359A probably benign Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Zic2 A T 14: 122,715,957 (GRCm39) K360* probably null Het
Other mutations in Phka1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01410:Phka1 APN X 101,629,712 (GRCm39) missense probably damaging 0.99
IGL03201:Phka1 APN X 101,584,716 (GRCm39) critical splice donor site probably null
IGL03294:Phka1 APN X 101,580,819 (GRCm39) missense probably damaging 1.00
R0626:Phka1 UTSW X 101,564,437 (GRCm39) missense probably damaging 1.00
R0635:Phka1 UTSW X 101,665,006 (GRCm39) missense probably damaging 1.00
R0709:Phka1 UTSW X 101,629,710 (GRCm39) missense probably damaging 0.98
R1399:Phka1 UTSW X 101,660,964 (GRCm39) missense probably damaging 1.00
R2114:Phka1 UTSW X 101,653,807 (GRCm39) missense probably damaging 1.00
R2115:Phka1 UTSW X 101,653,807 (GRCm39) missense probably damaging 1.00
R2117:Phka1 UTSW X 101,653,807 (GRCm39) missense probably damaging 1.00
R2267:Phka1 UTSW X 101,584,716 (GRCm39) critical splice donor site probably benign
R2268:Phka1 UTSW X 101,584,716 (GRCm39) critical splice donor site probably benign
R4463:Phka1 UTSW X 101,588,990 (GRCm39) missense probably benign
X0022:Phka1 UTSW X 101,664,951 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16