Incidental Mutation 'IGL00434:Gys1'
| ID |
5254 |
| 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 # |
IGL00434
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45084268-45106043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 45094256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 364
(M364K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148252
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003964]
[ENSMUST00000211150]
|
| AlphaFold |
Q9Z1E4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003964
AA Change: M428K
PolyPhen 2
Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: M428K
| 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: ENSMUST00000209640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210563
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210715
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211150
AA Change: M364K
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,269,181 (GRCm39) |
V1098A |
probably damaging |
Het |
| Bltp1 |
T |
C |
3: 37,041,448 (GRCm39) |
F2609L |
probably damaging |
Het |
| Ccdc126 |
C |
T |
6: 49,311,239 (GRCm39) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,135,271 (GRCm39) |
L54P |
probably damaging |
Het |
| Cdsn |
A |
T |
17: 35,865,740 (GRCm39) |
S90C |
unknown |
Het |
| Clcn6 |
G |
T |
4: 148,098,195 (GRCm39) |
D581E |
probably damaging |
Het |
| Clec4f |
T |
A |
6: 83,630,198 (GRCm39) |
H120L |
possibly damaging |
Het |
| Col12a1 |
T |
C |
9: 79,560,614 (GRCm39) |
T1838A |
probably benign |
Het |
| Col22a1 |
T |
C |
15: 71,878,524 (GRCm39) |
D211G |
possibly damaging |
Het |
| Cpne8 |
T |
C |
15: 90,381,261 (GRCm39) |
|
probably benign |
Het |
| Dgkk |
T |
A |
X: 6,772,697 (GRCm39) |
M462K |
probably benign |
Het |
| Dhx29 |
T |
A |
13: 113,091,759 (GRCm39) |
H834Q |
probably benign |
Het |
| Esyt1 |
A |
G |
10: 128,353,504 (GRCm39) |
Y578H |
possibly damaging |
Het |
| Fnip2 |
C |
A |
3: 79,419,796 (GRCm39) |
|
probably benign |
Het |
| Fut1 |
T |
G |
7: 45,268,855 (GRCm39) |
C270G |
probably damaging |
Het |
| Ganab |
T |
A |
19: 8,884,707 (GRCm39) |
V170D |
probably damaging |
Het |
| Ighv1-85 |
A |
C |
12: 115,963,654 (GRCm39) |
C115W |
probably damaging |
Het |
| Igkv4-74 |
T |
G |
6: 69,162,044 (GRCm39) |
T42P |
probably damaging |
Het |
| Jmjd4 |
A |
G |
11: 59,341,321 (GRCm39) |
Y84C |
probably damaging |
Het |
| Kif11 |
A |
C |
19: 37,399,857 (GRCm39) |
E781D |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Klf1 |
C |
T |
8: 85,628,628 (GRCm39) |
P9S |
possibly damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,191 (GRCm39) |
|
probably benign |
Het |
| Ltbp4 |
C |
A |
7: 27,028,230 (GRCm39) |
R309L |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,293,014 (GRCm39) |
E131G |
possibly damaging |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mgme1 |
T |
A |
2: 144,121,056 (GRCm39) |
|
probably benign |
Het |
| Nkiras2 |
G |
A |
11: 100,515,808 (GRCm39) |
G45D |
probably damaging |
Het |
| Orc2 |
A |
T |
1: 58,532,875 (GRCm39) |
D16E |
possibly damaging |
Het |
| Pcyox1l |
T |
C |
18: 61,830,613 (GRCm39) |
T420A |
probably benign |
Het |
| Pira13 |
C |
A |
7: 3,826,088 (GRCm39) |
G302C |
probably damaging |
Het |
| Pm20d1 |
A |
G |
1: 131,741,738 (GRCm39) |
|
probably benign |
Het |
| Ppp1r3c |
T |
C |
19: 36,711,503 (GRCm39) |
D89G |
probably damaging |
Het |
| Ppp2ca |
G |
A |
11: 52,012,776 (GRCm39) |
R302H |
probably benign |
Het |
| Riok3 |
T |
C |
18: 12,281,904 (GRCm39) |
V291A |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,007,219 (GRCm39) |
|
probably benign |
Het |
| Scai |
C |
A |
2: 38,998,406 (GRCm39) |
L174F |
probably damaging |
Het |
| Slc25a44 |
T |
C |
3: 88,323,369 (GRCm39) |
I227V |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,938,548 (GRCm39) |
L160P |
probably damaging |
Het |
| Slc38a1 |
A |
G |
15: 96,483,504 (GRCm39) |
Y275H |
possibly damaging |
Het |
| Slco6b1 |
A |
G |
1: 96,916,375 (GRCm39) |
|
noncoding transcript |
Het |
| Spag8 |
G |
T |
4: 43,652,890 (GRCm39) |
C190* |
probably null |
Het |
| Tbr1 |
T |
C |
2: 61,635,625 (GRCm39) |
F192L |
probably benign |
Het |
| Tti1 |
C |
T |
2: 157,850,886 (GRCm39) |
E118K |
probably damaging |
Het |
| Tti1 |
T |
A |
2: 157,850,885 (GRCm39) |
E118V |
probably damaging |
Het |
| Vcan |
G |
T |
13: 89,852,821 (GRCm39) |
P713Q |
probably damaging |
Het |
| Vcf2 |
A |
T |
X: 149,181,395 (GRCm39) |
V132E |
possibly damaging |
Het |
| Wt1 |
G |
T |
2: 104,974,486 (GRCm39) |
|
probably null |
Het |
| Xylt1 |
T |
A |
7: 117,249,912 (GRCm39) |
I694N |
probably damaging |
Het |
| Zfp516 |
T |
A |
18: 82,975,233 (GRCm39) |
M477K |
probably benign |
Het |
|
| Other mutations in Gys1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2012-04-20 |
Incidental Mutation