Incidental Mutation 'IGL00572:Phkg1'
ID |
6389 |
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: 0.067)
|
Stock # |
IGL00572
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
129892272-129907953 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 129893914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 274
(Q274*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000026617
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026617]
[ENSMUST00000137357]
[ENSMUST00000140667]
[ENSMUST00000154932]
[ENSMUST00000171300]
|
AlphaFold |
P07934 |
Predicted Effect |
probably null
Transcript: ENSMUST00000026617
AA Change: Q274*
|
SMART Domains |
Protein: ENSMUSP00000026617 Gene: ENSMUSG00000025537 AA Change: Q274*
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
|
SMART Domains |
Protein: ENSMUSP00000122040 Gene: ENSMUSG00000025537
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgre4 |
A |
G |
17: 56,127,648 (GRCm39) |
I563V |
probably benign |
Het |
Adgrl2 |
A |
G |
3: 148,532,134 (GRCm39) |
L1033P |
probably damaging |
Het |
Aqr |
A |
C |
2: 113,956,423 (GRCm39) |
I840M |
possibly damaging |
Het |
Bmper |
G |
A |
9: 23,317,823 (GRCm39) |
V481M |
probably damaging |
Het |
Chd8 |
T |
C |
14: 52,463,595 (GRCm39) |
E683G |
probably damaging |
Het |
Cpn1 |
A |
G |
19: 43,952,268 (GRCm39) |
V338A |
probably damaging |
Het |
Cs |
A |
G |
10: 128,196,833 (GRCm39) |
|
probably benign |
Het |
Gm4540 |
C |
T |
3: 105,942,123 (GRCm39) |
|
probably benign |
Het |
Hdc |
A |
G |
2: 126,443,792 (GRCm39) |
F296L |
probably benign |
Het |
Helt |
T |
C |
8: 46,746,559 (GRCm39) |
E32G |
probably damaging |
Het |
Hivep1 |
C |
T |
13: 42,312,347 (GRCm39) |
A1529V |
probably benign |
Het |
Klk1b4 |
A |
T |
7: 43,860,198 (GRCm39) |
H104L |
possibly damaging |
Het |
Lrrc37 |
A |
G |
11: 103,506,236 (GRCm39) |
F1911L |
probably benign |
Het |
Ncf2 |
C |
A |
1: 152,683,925 (GRCm39) |
T48N |
possibly damaging |
Het |
Slc1a2 |
A |
G |
2: 102,607,921 (GRCm39) |
D520G |
possibly damaging |
Het |
Slc25a10 |
G |
T |
11: 120,387,933 (GRCm39) |
|
probably null |
Het |
Slc8a1 |
A |
T |
17: 81,696,155 (GRCm39) |
S960T |
probably damaging |
Het |
Sp140 |
G |
A |
1: 85,549,393 (GRCm39) |
R208K |
probably benign |
Het |
St7 |
A |
G |
6: 17,855,005 (GRCm39) |
E245G |
probably damaging |
Het |
Sypl1 |
T |
A |
12: 33,004,293 (GRCm39) |
S2T |
probably damaging |
Het |
Tbx20 |
T |
C |
9: 24,636,984 (GRCm39) |
T368A |
probably benign |
Het |
Tmem126a |
T |
C |
7: 90,100,040 (GRCm39) |
T168A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,576,934 (GRCm39) |
D24653G |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,777,323 (GRCm39) |
S1360P |
probably damaging |
Het |
Uggt2 |
A |
T |
14: 119,280,203 (GRCm39) |
F282L |
probably benign |
Het |
Usp36 |
A |
T |
11: 118,155,646 (GRCm39) |
N875K |
possibly damaging |
Het |
Usp9x |
C |
A |
X: 12,991,815 (GRCm39) |
H869N |
probably benign |
Het |
Xpnpep1 |
T |
C |
19: 52,998,579 (GRCm39) |
E223G |
probably benign |
Het |
Zfp729a |
G |
A |
13: 67,767,440 (GRCm39) |
P930S |
probably benign |
Het |
Zscan10 |
G |
A |
17: 23,828,435 (GRCm39) |
V216M |
probably damaging |
Het |
|
Other mutations in Phkg1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2012-04-20 |