Incidental Mutation 'R1142:Phkg1'
ID 102155
Institutional Source Beutler Lab
Gene Symbol Phkg1
Ensembl Gene ENSMUSG00000025537
Gene Name phosphorylase kinase gamma 1
Synonyms
MMRRC Submission 039215-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.070) question?
Stock # R1142 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 129892272-129907953 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 129902073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 101 (F101L)
Ref Sequence ENSEMBL: ENSMUSP00000026617 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026617] [ENSMUST00000140667] [ENSMUST00000154932]
AlphaFold P07934
Predicted Effect possibly damaging
Transcript: ENSMUST00000026617
AA Change: F101L

PolyPhen 2 Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: F101L

DomainStartEndE-ValueType
S_TKc 20 288 3.79e-106 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000140667
AA Change: F101L

PolyPhen 2 Score 0.698 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537
AA Change: F101L

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 20 143 4.1e-9 PFAM
Pfam:Pkinase 20 144 3.2e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154495
Predicted Effect probably benign
Transcript: ENSMUST00000154932
SMART Domains Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 95 3.6e-13 PFAM
Pfam:Pkinase 1 100 7.3e-32 PFAM
Pfam:Kdo 3 77 8.6e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200832
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200922
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201268
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the Ser/Thr protein kinase family and encodes a protein with one protein kinase domain and two calmodulin-binding domains. This protein is the catalytic member of a 16 subunit protein kinase complex which contains equimolar ratios of 4 subunit types. The complex is a crucial glycogenolytic regulatory enzyme. This gene has two pseudogenes at chromosome 7q11.21 and one at chromosome 11p11.12. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh18a1 A G 19: 40,539,657 (GRCm39) S773P probably damaging Het
Alx3 T C 3: 107,507,980 (GRCm39) F163S possibly damaging Het
Apobr A G 7: 126,186,654 (GRCm39) M722V probably benign Het
Col6a5 A G 9: 105,811,516 (GRCm39) S668P unknown Het
Cxadr A G 16: 78,131,727 (GRCm39) T238A probably benign Het
Dph6 A G 2: 114,478,260 (GRCm39) I27T probably damaging Het
Ephx3 G A 17: 32,404,248 (GRCm39) H324Y probably benign Het
F830045P16Rik T A 2: 129,302,252 (GRCm39) K447* probably null Het
Gjb3 G A 4: 127,220,224 (GRCm39) R103W probably damaging Het
Hsp90ab1 C A 17: 45,879,900 (GRCm39) E539* probably null Het
Jmjd1c T C 10: 67,061,124 (GRCm39) L1159P probably damaging Het
Lamc3 T C 2: 31,830,733 (GRCm39) I1490T probably damaging Het
Met T A 6: 17,527,182 (GRCm39) C544* probably null Het
Pdlim3 C A 8: 46,371,998 (GRCm39) R348S probably damaging Het
Polq A G 16: 36,833,579 (GRCm39) M91V probably damaging Het
Slc38a9 T C 13: 112,850,744 (GRCm39) I376T probably damaging Het
Tnc C T 4: 63,932,231 (GRCm39) V728M probably damaging Het
Vmn1r85 T C 7: 12,818,481 (GRCm39) N221S probably benign Het
Vmn2r91 T A 17: 18,356,705 (GRCm39) W791R probably damaging Het
Zc3h13 T C 14: 75,553,424 (GRCm39) Y284H probably benign Het
Other mutations in Phkg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00572:Phkg1 APN 5 129,893,914 (GRCm39) nonsense probably null
IGL01116:Phkg1 APN 5 129,893,813 (GRCm39) splice site probably null
IGL01713:Phkg1 APN 5 129,895,714 (GRCm39) missense probably benign 0.01
IGL02246:Phkg1 APN 5 129,893,479 (GRCm39) missense probably damaging 0.97
IGL02803:Phkg1 APN 5 129,894,895 (GRCm39) missense possibly damaging 0.95
IGL02954:Phkg1 APN 5 129,894,910 (GRCm39) missense probably damaging 1.00
PIT4403001:Phkg1 UTSW 5 129,894,772 (GRCm39) missense probably benign 0.02
R0041:Phkg1 UTSW 5 129,903,103 (GRCm39) missense probably benign
R0140:Phkg1 UTSW 5 129,893,449 (GRCm39) missense probably benign 0.01
R0321:Phkg1 UTSW 5 129,898,365 (GRCm39) start codon destroyed probably null 1.00
R0646:Phkg1 UTSW 5 129,893,394 (GRCm39) splice site probably null
R1446:Phkg1 UTSW 5 129,902,055 (GRCm39) critical splice donor site probably null
R2350:Phkg1 UTSW 5 129,893,373 (GRCm39) missense probably damaging 1.00
R2896:Phkg1 UTSW 5 129,893,471 (GRCm39) missense possibly damaging 0.46
R4773:Phkg1 UTSW 5 129,902,114 (GRCm39) splice site probably null
R7236:Phkg1 UTSW 5 129,895,802 (GRCm39) missense probably damaging 1.00
R7499:Phkg1 UTSW 5 129,902,109 (GRCm39) nonsense probably null
R7658:Phkg1 UTSW 5 129,894,764 (GRCm39) missense probably damaging 1.00
R7719:Phkg1 UTSW 5 129,902,699 (GRCm39) start gained probably benign
R8686:Phkg1 UTSW 5 129,895,056 (GRCm39) missense probably damaging 1.00
R8827:Phkg1 UTSW 5 129,893,894 (GRCm39) missense probably benign
R9090:Phkg1 UTSW 5 129,893,863 (GRCm39) missense probably benign 0.04
R9271:Phkg1 UTSW 5 129,893,863 (GRCm39) missense probably benign 0.04
R9627:Phkg1 UTSW 5 129,893,376 (GRCm39) nonsense probably null
R9781:Phkg1 UTSW 5 129,895,807 (GRCm39) missense probably damaging 1.00
Z1177:Phkg1 UTSW 5 129,895,096 (GRCm39) frame shift probably null
Predicted Primers
Posted On 2014-01-15