Incidental Mutation 'IGL00870:Gys1'
ID |
11194 |
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 # |
IGL00870
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
45084268-45106043 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 45097437 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148252
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003964]
[ENSMUST00000211150]
|
AlphaFold |
Q9Z1E4 |
Predicted Effect |
probably null
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 |
noncoding transcript
Transcript: ENSMUST00000209230
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209640
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210563
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210715
|
Predicted Effect |
probably null
Transcript: ENSMUST00000211150
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahnak |
T |
A |
19: 8,991,062 (GRCm39) |
D4115E |
probably damaging |
Het |
Asb5 |
T |
C |
8: 55,036,695 (GRCm39) |
|
probably null |
Het |
Cpeb3 |
A |
T |
19: 37,031,695 (GRCm39) |
I569N |
probably damaging |
Het |
Cpsf7 |
T |
C |
19: 10,517,014 (GRCm39) |
|
probably null |
Het |
Dlat |
A |
G |
9: 50,562,169 (GRCm39) |
L285P |
probably damaging |
Het |
Dytn |
T |
C |
1: 63,716,272 (GRCm39) |
|
probably benign |
Het |
Ears2 |
A |
T |
7: 121,654,899 (GRCm39) |
L123Q |
probably damaging |
Het |
Gad2 |
T |
C |
2: 22,519,983 (GRCm39) |
V212A |
probably benign |
Het |
Gon4l |
T |
C |
3: 88,764,492 (GRCm39) |
Y358H |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Krtap20-2 |
G |
A |
16: 89,002,875 (GRCm39) |
G25D |
unknown |
Het |
Lrif1 |
T |
C |
3: 106,641,957 (GRCm39) |
|
probably null |
Het |
Naip2 |
A |
G |
13: 100,288,568 (GRCm39) |
|
probably benign |
Het |
Or8b37 |
A |
T |
9: 37,959,036 (GRCm39) |
I173F |
probably damaging |
Het |
Oxct1 |
T |
A |
15: 4,131,300 (GRCm39) |
L396Q |
probably damaging |
Het |
Pclo |
A |
T |
5: 14,589,997 (GRCm39) |
R766W |
unknown |
Het |
Pkhd1 |
T |
A |
1: 20,641,614 (GRCm39) |
I275F |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,301 (GRCm39) |
F357S |
probably damaging |
Het |
Rxfp3 |
A |
G |
15: 11,036,391 (GRCm39) |
V327A |
probably damaging |
Het |
Serpinb2 |
A |
G |
1: 107,450,800 (GRCm39) |
I181V |
probably damaging |
Het |
Smad5 |
A |
G |
13: 56,871,480 (GRCm39) |
D25G |
probably benign |
Het |
Strada |
A |
G |
11: 106,062,083 (GRCm39) |
L82P |
probably damaging |
Het |
Tek |
T |
A |
4: 94,761,318 (GRCm39) |
Y1079* |
probably null |
Het |
Tenm3 |
T |
C |
8: 48,870,167 (GRCm39) |
T209A |
probably benign |
Het |
Tnks1bp1 |
C |
T |
2: 84,892,580 (GRCm39) |
Q836* |
probably null |
Het |
Toporsl |
T |
C |
4: 52,610,172 (GRCm39) |
S22P |
probably benign |
Het |
Ttc17 |
T |
C |
2: 94,202,078 (GRCm39) |
|
probably null |
Het |
Ttc39a |
A |
G |
4: 109,299,542 (GRCm39) |
|
probably benign |
Het |
Vangl1 |
T |
C |
3: 102,096,756 (GRCm39) |
D60G |
probably damaging |
Het |
Vmn1r13 |
A |
T |
6: 57,187,098 (GRCm39) |
M86L |
probably benign |
Het |
Vmn1r220 |
C |
T |
13: 23,368,647 (GRCm39) |
M16I |
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 |
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 |
2012-12-06 |