Incidental Mutation 'IGL02803:Phkg1'
| ID |
360289 |
| 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 # |
IGL02803
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
129892272-129907953 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 129894895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 219
(I219L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026617]
[ENSMUST00000137357]
[ENSMUST00000140667]
[ENSMUST00000154932]
[ENSMUST00000171300]
|
| AlphaFold |
P07934 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026617
AA Change: I219L
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: I219L
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agmo |
C |
T |
12: 37,302,480 (GRCm39) |
L106F |
probably benign |
Het |
| Appl1 |
A |
G |
14: 26,673,473 (GRCm39) |
I208T |
possibly damaging |
Het |
| Arap2 |
G |
T |
5: 62,906,452 (GRCm39) |
A189D |
probably benign |
Het |
| Arhgef12 |
T |
C |
9: 42,883,324 (GRCm39) |
K1402E |
possibly damaging |
Het |
| C7 |
A |
C |
15: 5,079,042 (GRCm39) |
F89V |
probably damaging |
Het |
| Camsap2 |
G |
A |
1: 136,208,861 (GRCm39) |
T877I |
probably damaging |
Het |
| Cpt2 |
T |
C |
4: 107,764,583 (GRCm39) |
T394A |
probably benign |
Het |
| Csnk2a1 |
G |
T |
2: 152,116,005 (GRCm39) |
|
probably benign |
Het |
| Dnah10 |
C |
A |
5: 124,875,078 (GRCm39) |
T2528N |
probably damaging |
Het |
| Entpd8 |
G |
T |
2: 24,975,151 (GRCm39) |
W494L |
probably damaging |
Het |
| Fam114a1 |
T |
A |
5: 65,163,135 (GRCm39) |
|
probably benign |
Het |
| Fat4 |
T |
C |
3: 38,943,444 (GRCm39) |
V779A |
probably damaging |
Het |
| Gckr |
T |
C |
5: 31,455,548 (GRCm39) |
S34P |
probably damaging |
Het |
| Golga4 |
T |
C |
9: 118,364,528 (GRCm39) |
V297A |
probably benign |
Het |
| Gpr65 |
T |
C |
12: 98,241,469 (GRCm39) |
S41P |
probably damaging |
Het |
| Gps1 |
G |
T |
11: 120,677,649 (GRCm39) |
A221S |
probably damaging |
Het |
| Heatr1 |
T |
A |
13: 12,448,867 (GRCm39) |
S1861T |
probably damaging |
Het |
| Hmces |
A |
G |
6: 87,902,711 (GRCm39) |
E184G |
probably damaging |
Het |
| Itfg1 |
T |
C |
8: 86,452,140 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
C |
T |
16: 13,221,020 (GRCm39) |
T743I |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,434,291 (GRCm39) |
S284G |
possibly damaging |
Het |
| Nlrp2 |
C |
A |
7: 5,331,317 (GRCm39) |
A360S |
probably damaging |
Het |
| Nop9 |
A |
G |
14: 55,987,533 (GRCm39) |
H298R |
probably benign |
Het |
| Or5an1 |
A |
T |
19: 12,261,347 (GRCm39) |
S312C |
possibly damaging |
Het |
| Or5h17 |
T |
A |
16: 58,820,321 (GRCm39) |
V91E |
probably benign |
Het |
| Or6ae1 |
T |
C |
7: 139,742,287 (GRCm39) |
D192G |
possibly damaging |
Het |
| Osgin1 |
A |
G |
8: 120,170,006 (GRCm39) |
M158V |
probably benign |
Het |
| Patj |
C |
A |
4: 98,314,301 (GRCm39) |
Q374K |
probably damaging |
Het |
| Pck1 |
G |
T |
2: 172,997,797 (GRCm39) |
G289W |
probably damaging |
Het |
| Ppp1r15b |
G |
A |
1: 133,061,081 (GRCm39) |
A533T |
probably damaging |
Het |
| Ppwd1 |
T |
C |
13: 104,350,192 (GRCm39) |
I398V |
probably benign |
Het |
| Prkdc |
A |
G |
16: 15,651,530 (GRCm39) |
|
probably benign |
Het |
| Psg25 |
G |
A |
7: 18,260,212 (GRCm39) |
L229F |
possibly damaging |
Het |
| Rps6ka1 |
T |
A |
4: 133,608,265 (GRCm39) |
Q24L |
probably benign |
Het |
| Sgk3 |
T |
C |
1: 9,949,273 (GRCm39) |
I147T |
possibly damaging |
Het |
| Slc25a24 |
T |
A |
3: 109,062,387 (GRCm39) |
I159N |
probably damaging |
Het |
| Slc26a4 |
T |
C |
12: 31,572,526 (GRCm39) |
|
probably null |
Het |
| Slc35f4 |
T |
C |
14: 49,541,714 (GRCm39) |
I347V |
probably benign |
Het |
| Spag17 |
A |
T |
3: 100,016,713 (GRCm39) |
M2163L |
probably benign |
Het |
| Stab2 |
C |
T |
10: 86,786,133 (GRCm39) |
|
probably benign |
Het |
| Sult2a8 |
G |
A |
7: 14,145,630 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
C |
12: 76,078,320 (GRCm39) |
L4718P |
probably damaging |
Het |
| Timd4 |
G |
T |
11: 46,706,521 (GRCm39) |
G108W |
probably damaging |
Het |
| Timm9 |
T |
C |
12: 71,173,148 (GRCm39) |
|
probably benign |
Het |
| Vmn2r98 |
G |
A |
17: 19,286,275 (GRCm39) |
V258I |
probably benign |
Het |
| Zcchc9 |
C |
T |
13: 91,949,000 (GRCm39) |
V174I |
probably benign |
Het |
| Zdbf2 |
T |
C |
1: 63,342,236 (GRCm39) |
V205A |
possibly damaging |
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 |
|
|
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 |
|
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 |
2015-12-18 |
Incidental Mutation