Incidental Mutation 'IGL01346:Gys1'
| ID |
75056 |
| 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 # |
IGL01346
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45084268-45106043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 45091961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 249
(Y249C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003964]
[ENSMUST00000211150]
[ENSMUST00000211214]
|
| AlphaFold |
Q9Z1E4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003964
AA Change: Y313C
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: Y313C
| 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 damaging
Transcript: ENSMUST00000211150
AA Change: Y249C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3300002I08Rik |
A |
G |
2: 150,152,980 (GRCm39) |
V135A |
unknown |
Het |
| Cnot4 |
A |
T |
6: 35,047,183 (GRCm39) |
I143N |
probably damaging |
Het |
| Cnot6l |
A |
T |
5: 96,234,105 (GRCm39) |
M302K |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,322,759 (GRCm39) |
T1542A |
probably damaging |
Het |
| Dnaaf9 |
A |
G |
2: 130,633,766 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,116 (GRCm39) |
S3893P |
probably benign |
Het |
| Duox2 |
A |
T |
2: 122,117,683 (GRCm39) |
|
probably benign |
Het |
| Dusp1 |
T |
C |
17: 26,725,295 (GRCm39) |
N355D |
probably benign |
Het |
| Fam76b |
T |
C |
9: 13,741,046 (GRCm39) |
C60R |
probably damaging |
Het |
| Gnptab |
G |
A |
10: 88,272,041 (GRCm39) |
V944I |
possibly damaging |
Het |
| Ift88 |
A |
T |
14: 57,681,862 (GRCm39) |
E215D |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,424,551 (GRCm39) |
|
probably benign |
Het |
| Lmln |
C |
A |
16: 32,937,490 (GRCm39) |
N618K |
probably benign |
Het |
| Lrrc75a |
T |
C |
11: 62,496,813 (GRCm39) |
T250A |
probably damaging |
Het |
| Mpp4 |
A |
G |
1: 59,164,719 (GRCm39) |
S435P |
probably damaging |
Het |
| Myo1c |
T |
A |
11: 75,563,076 (GRCm39) |
V1036E |
probably damaging |
Het |
| Nlrp12 |
T |
G |
7: 3,289,316 (GRCm39) |
T399P |
probably damaging |
Het |
| Or2y16 |
A |
G |
11: 49,335,595 (GRCm39) |
R306G |
probably benign |
Het |
| Or4c118 |
A |
G |
2: 88,974,575 (GRCm39) |
F264S |
possibly damaging |
Het |
| Parp8 |
A |
T |
13: 117,031,600 (GRCm39) |
C332S |
possibly damaging |
Het |
| Pdcd11 |
G |
A |
19: 47,098,053 (GRCm39) |
V780I |
probably benign |
Het |
| Plekha5 |
A |
G |
6: 140,480,292 (GRCm39) |
|
probably benign |
Het |
| Ppt1 |
T |
A |
4: 122,737,848 (GRCm39) |
I62K |
probably damaging |
Het |
| Proser3 |
T |
C |
7: 30,249,071 (GRCm39) |
N7S |
probably benign |
Het |
| Ptk2b |
A |
G |
14: 66,414,567 (GRCm39) |
L311P |
possibly damaging |
Het |
| Rasal2 |
T |
C |
1: 156,988,786 (GRCm39) |
N706S |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,132,775 (GRCm39) |
|
probably null |
Het |
| Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
| Smurf2 |
T |
A |
11: 106,721,741 (GRCm39) |
|
probably benign |
Het |
| Snx32 |
A |
G |
19: 5,547,764 (GRCm39) |
L182P |
possibly damaging |
Het |
| Stpg2 |
A |
G |
3: 139,125,635 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
A |
G |
10: 23,816,997 (GRCm39) |
Y179C |
probably damaging |
Het |
| Tenm2 |
G |
A |
11: 35,918,232 (GRCm39) |
R1843* |
probably null |
Het |
| Tmco4 |
T |
C |
4: 138,748,260 (GRCm39) |
I280T |
probably damaging |
Het |
| Tuba4a |
C |
A |
1: 75,193,921 (GRCm39) |
C46F |
probably damaging |
Het |
| Ubr1 |
A |
G |
2: 120,703,603 (GRCm39) |
|
probably null |
Het |
| Vldlr |
A |
T |
19: 27,217,081 (GRCm39) |
I45L |
possibly damaging |
Het |
| Vmn2r120 |
C |
A |
17: 57,852,232 (GRCm39) |
G28V |
probably benign |
Het |
| Vmn2r37 |
C |
A |
7: 9,209,680 (GRCm39) |
V611L |
probably benign |
Het |
| Vmn2r67 |
A |
G |
7: 84,786,127 (GRCm39) |
L626P |
probably damaging |
Het |
| Wdr19 |
C |
T |
5: 65,379,082 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
T |
A |
13: 67,464,749 (GRCm39) |
K505* |
probably null |
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 |
|
|
IGL02396:Gys1
|
APN |
7 |
45,089,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03157:Gys1
|
APN |
7 |
45,089,323 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
2013-10-07 |
Incidental Mutation