Incidental Mutation 'R2350:Phkg1'
| ID |
246055 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Phkg1
|
| Ensembl Gene |
ENSMUSG00000025537 |
| Gene Name |
phosphorylase kinase gamma 1 |
| Synonyms |
|
| MMRRC Submission |
040332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.070)
|
| Stock # |
R2350 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
129892272-129907953 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129893373 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 359
(V359E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026617]
[ENSMUST00000137357]
[ENSMUST00000140667]
[ENSMUST00000154932]
[ENSMUST00000171300]
|
| AlphaFold |
P07934 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000026617
AA Change: V359E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026617
Gene: ENSMUSG00000025537
AA Change: V359E
| 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 |
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 |
|
| Meta Mutation Damage Score |
0.2411 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (40/40) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
C |
6: 121,655,047 (GRCm39) |
|
probably benign |
Het |
| Adam12 |
T |
C |
7: 133,521,253 (GRCm39) |
T312A |
probably damaging |
Het |
| Adamts20 |
C |
T |
15: 94,181,797 (GRCm39) |
C1632Y |
probably damaging |
Het |
| Ago2 |
T |
C |
15: 72,991,310 (GRCm39) |
M543V |
probably benign |
Het |
| Alpk3 |
T |
C |
7: 80,744,718 (GRCm39) |
L1271P |
probably damaging |
Het |
| Arpin |
T |
A |
7: 79,581,553 (GRCm39) |
K56* |
probably null |
Het |
| Ccdc138 |
G |
T |
10: 58,397,715 (GRCm39) |
|
probably benign |
Het |
| Ccdc63 |
A |
T |
5: 122,260,948 (GRCm39) |
M192K |
probably benign |
Het |
| Cldn12 |
A |
T |
5: 5,557,845 (GRCm39) |
V194D |
possibly damaging |
Het |
| Cntnap5b |
T |
C |
1: 100,306,851 (GRCm39) |
L485P |
probably damaging |
Het |
| Cpne7 |
A |
G |
8: 123,851,208 (GRCm39) |
D165G |
probably damaging |
Het |
| Cyp2j6 |
A |
T |
4: 96,417,645 (GRCm39) |
M326K |
probably damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,042,931 (GRCm39) |
T870S |
probably damaging |
Het |
| Dennd2c |
A |
G |
3: 103,039,317 (GRCm39) |
D155G |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,645,011 (GRCm39) |
|
probably null |
Het |
| Dqx1 |
T |
A |
6: 83,036,068 (GRCm39) |
C133* |
probably null |
Het |
| Fam234b |
T |
A |
6: 135,208,722 (GRCm39) |
V545E |
probably damaging |
Het |
| Flcn |
T |
C |
11: 59,683,485 (GRCm39) |
H564R |
probably damaging |
Het |
| Gsdmc4 |
T |
A |
15: 63,765,014 (GRCm39) |
H348L |
probably benign |
Het |
| Gucy2c |
G |
T |
6: 136,740,072 (GRCm39) |
P252T |
probably damaging |
Het |
| Insl6 |
T |
A |
19: 29,302,645 (GRCm39) |
E24V |
possibly damaging |
Het |
| Irx1 |
T |
A |
13: 72,108,167 (GRCm39) |
T172S |
probably damaging |
Het |
| Mocos |
C |
T |
18: 24,799,713 (GRCm39) |
|
probably benign |
Het |
| Myom2 |
T |
C |
8: 15,158,835 (GRCm39) |
V837A |
probably benign |
Het |
| Nfatc2ip |
T |
C |
7: 125,995,170 (GRCm39) |
N126S |
probably benign |
Het |
| Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
| Npepl1 |
T |
C |
2: 173,953,566 (GRCm39) |
S166P |
probably benign |
Het |
| Nsf |
C |
T |
11: 103,821,578 (GRCm39) |
E26K |
possibly damaging |
Het |
| Or7d11 |
G |
T |
9: 19,966,384 (GRCm39) |
A125D |
probably damaging |
Het |
| Otop2 |
T |
G |
11: 115,217,676 (GRCm39) |
C171G |
probably damaging |
Het |
| Parpbp |
C |
A |
10: 87,968,950 (GRCm39) |
|
probably benign |
Het |
| Pcdhb20 |
T |
A |
18: 37,637,563 (GRCm39) |
S30T |
probably benign |
Het |
| Ppp2cb |
A |
G |
8: 34,101,855 (GRCm39) |
D131G |
probably null |
Het |
| Scn9a |
A |
G |
2: 66,335,312 (GRCm39) |
Y1226H |
probably damaging |
Het |
| Unc5b |
A |
G |
10: 60,613,979 (GRCm39) |
F290S |
probably benign |
Het |
| Vmn1r71 |
A |
G |
7: 10,481,846 (GRCm39) |
F215L |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,810,045 (GRCm39) |
V277A |
probably benign |
Het |
| Vmn2r6 |
T |
C |
3: 64,463,773 (GRCm39) |
S354G |
probably benign |
Het |
| Zfp292 |
A |
T |
4: 34,811,281 (GRCm39) |
S588T |
probably 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 |
|
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 |
|
|
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 |
PCR Primer
(F):5'- GGCCACCTATTCCTTTGCAG -3'
(R):5'- CAAAGCCAGCTAAGGTTTCCC -3'
Sequencing Primer
(F):5'- CAGAAGGCTACTTGGGGCATC -3'
(R):5'- AAGGTTTCCCGACAAGCTTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation