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)
|
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
Domain | Start | End | E-Value | Type |
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
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: 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 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
|
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 |