Incidental Mutation 'IGL01713:Phkg1'
| ID |
104866 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Phkg1
|
| Ensembl Gene |
ENSMUSG00000025537 |
| Gene Name |
phosphorylase kinase gamma 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
IGL01713
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129892272-129907953 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129895714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 179
(E179G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026617]
[ENSMUST00000137357]
[ENSMUST00000140667]
[ENSMUST00000154932]
[ENSMUST00000171300]
|
| AlphaFold |
P07934 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026617
AA Change: E179G
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: E179G
| Domain | Start | End | E-Value | Type |
|---|
|
S_TKc
|
20 |
288 |
3.79e-106 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000122826
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137357
|
| SMART Domains |
Protein: ENSMUSP00000144155
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
25 |
136 |
6.2e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140667
|
| SMART Domains |
Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase_Tyr
|
20 |
143 |
4.1e-9 |
PFAM |
|
Pfam:Pkinase
|
20 |
144 |
3.2e-23 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153063
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154495
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154932
AA Change: E73G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000122040
Gene: ENSMUSG00000025537
AA Change: E73G
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000171300
|
| SMART Domains |
Protein: ENSMUSP00000126036
Gene: ENSMUSG00000025538
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
33 |
N/A |
INTRINSIC |
|
Pfam:FGE-sulfatase
|
34 |
299 |
3.9e-88 |
PFAM |
|
| 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 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: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
A |
G |
7: 130,740,772 (GRCm39) |
I148T |
possibly damaging |
Het |
| Aipl1 |
A |
G |
11: 71,927,449 (GRCm39) |
C89R |
probably damaging |
Het |
| Apaf1 |
G |
A |
10: 90,897,694 (GRCm39) |
|
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,518,589 (GRCm39) |
V83A |
probably damaging |
Het |
| Ccdc180 |
G |
T |
4: 45,921,025 (GRCm39) |
|
probably null |
Het |
| Crebbp |
T |
C |
16: 3,946,512 (GRCm39) |
I418V |
possibly damaging |
Het |
| Cyp26b1 |
G |
A |
6: 84,551,283 (GRCm39) |
P427L |
probably benign |
Het |
| Dnal4 |
A |
G |
15: 79,646,606 (GRCm39) |
Y92H |
probably damaging |
Het |
| Dpy19l1 |
C |
T |
9: 24,396,365 (GRCm39) |
R117Q |
probably damaging |
Het |
| Epha3 |
G |
A |
16: 63,372,925 (GRCm39) |
T926I |
probably benign |
Het |
| Fgg |
T |
C |
3: 82,915,723 (GRCm39) |
S55P |
probably benign |
Het |
| Gosr1 |
A |
T |
11: 76,645,582 (GRCm39) |
M66K |
probably benign |
Het |
| Igkv12-89 |
G |
T |
6: 68,812,296 (GRCm39) |
|
probably benign |
Het |
| Map3k12 |
T |
C |
15: 102,410,756 (GRCm39) |
E451G |
probably damaging |
Het |
| Pnpla1 |
A |
T |
17: 29,100,579 (GRCm39) |
D482V |
possibly damaging |
Het |
| Pramel1 |
T |
C |
4: 143,123,652 (GRCm39) |
V109A |
probably benign |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Pus7l |
T |
C |
15: 94,429,493 (GRCm39) |
T442A |
probably benign |
Het |
| Sall3 |
A |
G |
18: 81,013,062 (GRCm39) |
S1125P |
probably damaging |
Het |
| Scyl2 |
A |
C |
10: 89,490,087 (GRCm39) |
I150S |
probably damaging |
Het |
| Sf1 |
T |
A |
19: 6,424,319 (GRCm39) |
|
probably null |
Het |
| Slco1a6 |
A |
G |
6: 142,032,293 (GRCm39) |
S611P |
possibly damaging |
Het |
| Vmn2r103 |
G |
T |
17: 20,014,330 (GRCm39) |
C374F |
probably damaging |
Het |
| Xntrpc |
T |
C |
7: 101,733,059 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Phkg1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00572:Phkg1
|
APN |
5 |
129,893,914 (GRCm39) |
nonsense |
probably null |
|
|
IGL01116:Phkg1
|
APN |
5 |
129,893,813 (GRCm39) |
splice site |
probably null |
|
|
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 |
|
|
R1142:Phkg1
|
UTSW |
5 |
129,902,073 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation