Incidental Mutation 'IGL03157:Gys1'
ID |
411322 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gys1
|
Ensembl Gene |
ENSMUSG00000003865 |
Gene Name |
glycogen synthase 1, muscle |
Synonyms |
MGS, Gys3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL03157
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45084268-45106043 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 45089323 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000147502
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003964]
[ENSMUST00000211150]
[ENSMUST00000211214]
|
AlphaFold |
Q9Z1E4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003964
|
SMART Domains |
Protein: ENSMUSP00000003964 Gene: ENSMUSG00000003865
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
12 |
N/A |
INTRINSIC |
Pfam:Glyco_transf_5
|
28 |
274 |
5.2e-8 |
PFAM |
Pfam:Glycogen_syn
|
31 |
663 |
N/A |
PFAM |
low complexity region
|
670 |
686 |
N/A |
INTRINSIC |
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
low complexity region
|
716 |
733 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211150
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000211214
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the addition of glucose monomers to the growing glycogen molecule through the formation of alpha-1,4-glycoside linkages. Mutations in this gene are associated with muscle glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009] PHENOTYPE: Homozygous null mice display neonatal lethality due to impaired cardiac function and exhibit reduced reduced ventricular chamber size, dilated atria, vascular congestion, and liver hemorrhage. Mice homozygous for a knock-in allele show altered glycogen homeostasis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
G |
A |
6: 142,551,649 (GRCm39) |
|
probably benign |
Het |
Adam30 |
A |
C |
3: 98,069,612 (GRCm39) |
K482Q |
possibly damaging |
Het |
Aqp4 |
T |
C |
18: 15,533,037 (GRCm39) |
R19G |
probably benign |
Het |
Arhgap32 |
C |
T |
9: 32,170,430 (GRCm39) |
P1070L |
probably damaging |
Het |
Bcat2 |
T |
C |
7: 45,224,922 (GRCm39) |
I31T |
probably benign |
Het |
Csmd2 |
T |
A |
4: 128,308,092 (GRCm39) |
C1283* |
probably null |
Het |
Fasn |
A |
G |
11: 120,698,735 (GRCm39) |
I2487T |
probably benign |
Het |
Helz |
A |
G |
11: 107,468,714 (GRCm39) |
D79G |
possibly damaging |
Het |
Il16 |
T |
C |
7: 83,371,611 (GRCm39) |
D65G |
probably damaging |
Het |
Iqgap1 |
C |
T |
7: 80,401,636 (GRCm39) |
E490K |
probably benign |
Het |
Kcnv2 |
A |
G |
19: 27,301,366 (GRCm39) |
K406E |
probably damaging |
Het |
Kif26b |
T |
A |
1: 178,743,930 (GRCm39) |
L1342H |
probably damaging |
Het |
Nlrp3 |
A |
G |
11: 59,440,372 (GRCm39) |
K650E |
possibly damaging |
Het |
Opn1sw |
T |
A |
6: 29,379,803 (GRCm39) |
N144Y |
possibly damaging |
Het |
Or2b2b |
T |
C |
13: 21,859,112 (GRCm39) |
M1V |
probably null |
Het |
Or6z1 |
A |
G |
7: 6,504,892 (GRCm39) |
L111P |
probably damaging |
Het |
Or8k30 |
T |
C |
2: 86,339,367 (GRCm39) |
L188P |
possibly damaging |
Het |
Ovol1 |
T |
C |
19: 5,601,635 (GRCm39) |
H129R |
probably benign |
Het |
Pigv |
T |
C |
4: 133,392,841 (GRCm39) |
S110G |
probably benign |
Het |
Pole |
T |
A |
5: 110,441,619 (GRCm39) |
F253L |
probably benign |
Het |
Samd3 |
T |
C |
10: 26,139,740 (GRCm39) |
Y291H |
probably benign |
Het |
Slc4a4 |
T |
A |
5: 89,304,372 (GRCm39) |
I605N |
probably damaging |
Het |
Sult1a1 |
T |
A |
7: 126,274,489 (GRCm39) |
Y58F |
probably damaging |
Het |
Tfrc |
T |
A |
16: 32,439,223 (GRCm39) |
D362E |
probably benign |
Het |
Thnsl2 |
T |
C |
6: 71,108,930 (GRCm39) |
T294A |
probably benign |
Het |
Tnfsf10 |
G |
A |
3: 27,380,106 (GRCm39) |
G57R |
possibly damaging |
Het |
Vps25 |
A |
T |
11: 101,147,723 (GRCm39) |
N73I |
probably benign |
Het |
Wdfy1 |
G |
A |
1: 79,684,035 (GRCm39) |
H367Y |
probably damaging |
Het |
Zfp568 |
T |
C |
7: 29,722,189 (GRCm39) |
L378P |
probably damaging |
Het |
|
Other mutations in Gys1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00434:Gys1
|
APN |
7 |
45,094,256 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL00870:Gys1
|
APN |
7 |
45,097,437 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01346:Gys1
|
APN |
7 |
45,091,961 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02396:Gys1
|
APN |
7 |
45,089,012 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03196:Gys1
|
APN |
7 |
45,104,241 (GRCm39) |
splice site |
probably benign |
|
R0095:Gys1
|
UTSW |
7 |
45,094,073 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0284:Gys1
|
UTSW |
7 |
45,086,143 (GRCm39) |
unclassified |
probably benign |
|
R0537:Gys1
|
UTSW |
7 |
45,089,425 (GRCm39) |
missense |
probably damaging |
1.00 |
R0622:Gys1
|
UTSW |
7 |
45,089,419 (GRCm39) |
missense |
probably damaging |
1.00 |
R1749:Gys1
|
UTSW |
7 |
45,089,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R1968:Gys1
|
UTSW |
7 |
45,092,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R3953:Gys1
|
UTSW |
7 |
45,089,470 (GRCm39) |
missense |
probably damaging |
1.00 |
R4058:Gys1
|
UTSW |
7 |
45,097,810 (GRCm39) |
splice site |
probably benign |
|
R4626:Gys1
|
UTSW |
7 |
45,088,958 (GRCm39) |
missense |
probably damaging |
1.00 |
R4661:Gys1
|
UTSW |
7 |
45,104,258 (GRCm39) |
missense |
probably damaging |
1.00 |
R4998:Gys1
|
UTSW |
7 |
45,100,968 (GRCm39) |
intron |
probably benign |
|
R5965:Gys1
|
UTSW |
7 |
45,104,763 (GRCm39) |
missense |
probably benign |
0.25 |
R5987:Gys1
|
UTSW |
7 |
45,087,529 (GRCm39) |
missense |
probably benign |
0.00 |
R6059:Gys1
|
UTSW |
7 |
45,104,712 (GRCm39) |
splice site |
probably null |
|
R6481:Gys1
|
UTSW |
7 |
45,092,393 (GRCm39) |
missense |
possibly damaging |
0.63 |
R6788:Gys1
|
UTSW |
7 |
45,094,102 (GRCm39) |
missense |
probably damaging |
0.99 |
R6924:Gys1
|
UTSW |
7 |
45,093,059 (GRCm39) |
critical splice donor site |
probably null |
|
R7006:Gys1
|
UTSW |
7 |
45,089,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R7029:Gys1
|
UTSW |
7 |
45,089,008 (GRCm39) |
missense |
possibly damaging |
0.93 |
R7060:Gys1
|
UTSW |
7 |
45,089,437 (GRCm39) |
missense |
probably damaging |
1.00 |
R7211:Gys1
|
UTSW |
7 |
45,097,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7237:Gys1
|
UTSW |
7 |
45,104,586 (GRCm39) |
missense |
probably benign |
0.02 |
R7242:Gys1
|
UTSW |
7 |
45,089,092 (GRCm39) |
splice site |
probably null |
|
R7593:Gys1
|
UTSW |
7 |
45,092,360 (GRCm39) |
missense |
probably damaging |
0.99 |
R7641:Gys1
|
UTSW |
7 |
45,104,495 (GRCm39) |
missense |
probably damaging |
0.98 |
R7674:Gys1
|
UTSW |
7 |
45,104,495 (GRCm39) |
missense |
probably damaging |
0.98 |
R7756:Gys1
|
UTSW |
7 |
45,097,726 (GRCm39) |
missense |
probably benign |
0.43 |
R8197:Gys1
|
UTSW |
7 |
45,092,348 (GRCm39) |
missense |
possibly damaging |
0.80 |
R9082:Gys1
|
UTSW |
7 |
45,088,917 (GRCm39) |
missense |
probably benign |
0.00 |
|
Posted On |
2016-08-02 |