Incidental Mutation 'R0537:Gys1'
| ID |
49501 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gys1
|
| Ensembl Gene |
ENSMUSG00000003865 |
| Gene Name |
glycogen synthase 1, muscle |
| Synonyms |
MGS, Gys3 |
| MMRRC Submission |
038729-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0537 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
45084268-45106043 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45089425 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 195
(S195P)
|
| 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: S259P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003964
Gene: ENSMUSG00000003865
AA Change: S259P
| 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: S195P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211214
|
| Meta Mutation Damage Score |
0.9642 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.9%
|
| Validation Efficiency |
100% (53/53) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930474N05Rik |
A |
T |
14: 35,818,657 (GRCm39) |
K218N |
probably benign |
Het |
| Acot11 |
T |
C |
4: 106,619,652 (GRCm39) |
E156G |
probably benign |
Het |
| Arhgef28 |
A |
T |
13: 98,094,224 (GRCm39) |
N973K |
probably damaging |
Het |
| B4galt3 |
T |
C |
1: 171,101,821 (GRCm39) |
|
probably benign |
Het |
| Bmpr1a |
T |
C |
14: 34,165,769 (GRCm39) |
|
probably benign |
Het |
| Camkmt |
A |
T |
17: 85,702,087 (GRCm39) |
I184F |
probably benign |
Het |
| Ccdc33 |
T |
C |
9: 58,024,737 (GRCm39) |
Y163C |
probably damaging |
Het |
| Ccdc9 |
A |
G |
7: 16,014,701 (GRCm39) |
|
probably benign |
Het |
| Dars2 |
A |
T |
1: 160,888,318 (GRCm39) |
C201S |
possibly damaging |
Het |
| Dnajc1 |
A |
T |
2: 18,312,767 (GRCm39) |
S194R |
possibly damaging |
Het |
| Dock8 |
A |
G |
19: 25,148,941 (GRCm39) |
D1473G |
probably benign |
Het |
| Dpm2 |
T |
A |
2: 32,462,961 (GRCm39) |
|
probably null |
Het |
| Dsg4 |
T |
C |
18: 20,591,628 (GRCm39) |
S456P |
probably damaging |
Het |
| Heatr6 |
G |
T |
11: 83,670,290 (GRCm39) |
E948* |
probably null |
Het |
| Itgal |
G |
A |
7: 126,910,445 (GRCm39) |
R518Q |
possibly damaging |
Het |
| Klhdc8b |
G |
C |
9: 108,326,422 (GRCm39) |
R158G |
possibly damaging |
Het |
| Klhl41 |
G |
A |
2: 69,500,554 (GRCm39) |
R5Q |
probably benign |
Het |
| Lrrtm4 |
A |
T |
6: 79,999,103 (GRCm39) |
T172S |
probably benign |
Het |
| Lypd1 |
A |
G |
1: 125,840,604 (GRCm39) |
|
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,975,562 (GRCm39) |
F121S |
possibly damaging |
Het |
| Mtor |
C |
T |
4: 148,622,817 (GRCm39) |
R1966W |
probably damaging |
Het |
| Myh7 |
A |
G |
14: 55,228,256 (GRCm39) |
F247L |
possibly damaging |
Het |
| Nebl |
G |
T |
2: 17,409,026 (GRCm39) |
D392E |
possibly damaging |
Het |
| Notch2 |
C |
A |
3: 98,024,057 (GRCm39) |
N840K |
possibly damaging |
Het |
| Nubp1 |
T |
C |
16: 10,240,678 (GRCm39) |
|
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,577,017 (GRCm39) |
Q159L |
probably benign |
Het |
| Or7g19 |
T |
C |
9: 18,856,444 (GRCm39) |
S167P |
probably damaging |
Het |
| Pcdh17 |
T |
A |
14: 84,684,897 (GRCm39) |
S455T |
probably damaging |
Het |
| Picalm |
C |
A |
7: 89,779,876 (GRCm39) |
H32Q |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,184,516 (GRCm39) |
E828G |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rala |
A |
T |
13: 18,063,233 (GRCm39) |
N119K |
probably benign |
Het |
| Rasal2 |
A |
T |
1: 156,975,362 (GRCm39) |
V1149E |
possibly damaging |
Het |
| Rd3 |
A |
G |
1: 191,715,501 (GRCm39) |
Y92C |
probably damaging |
Het |
| Rps18-ps6 |
A |
T |
13: 97,897,071 (GRCm39) |
F9Y |
probably benign |
Het |
| Sart1 |
A |
T |
19: 5,431,752 (GRCm39) |
D635E |
probably damaging |
Het |
| Sec16b |
A |
G |
1: 157,365,116 (GRCm39) |
T335A |
possibly damaging |
Het |
| Slc11a2 |
C |
T |
15: 100,303,679 (GRCm39) |
G185R |
probably damaging |
Het |
| Slc2a12 |
G |
A |
10: 22,540,967 (GRCm39) |
R274H |
probably damaging |
Het |
| Spag17 |
T |
C |
3: 100,032,618 (GRCm39) |
V2276A |
probably damaging |
Het |
| Tcam1 |
G |
A |
11: 106,174,904 (GRCm39) |
E120K |
probably benign |
Het |
| Tenm2 |
T |
C |
11: 36,054,557 (GRCm39) |
D601G |
probably damaging |
Het |
| Tmem168 |
C |
A |
6: 13,603,360 (GRCm39) |
C2F |
probably damaging |
Het |
| Tmem80 |
A |
G |
7: 140,913,609 (GRCm39) |
Y13C |
probably damaging |
Het |
| Try4 |
T |
A |
6: 41,281,296 (GRCm39) |
N79K |
probably benign |
Het |
| Vldlr |
C |
A |
19: 27,225,318 (GRCm39) |
N798K |
probably damaging |
Het |
| Wdr41 |
A |
G |
13: 95,131,813 (GRCm39) |
|
probably benign |
Het |
| Zfp30 |
A |
T |
7: 29,492,160 (GRCm39) |
E138V |
probably damaging |
Het |
| Zfp366 |
A |
C |
13: 99,365,786 (GRCm39) |
T316P |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,323,659 (GRCm39) |
S85C |
possibly damaging |
Het |
| Znfx1 |
T |
C |
2: 166,883,621 (GRCm39) |
H162R |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGTGAGACAGCCCAAAGCCC -3'
(R):5'- TCAGGATACAGAGTCAGCCAGCTTC -3'
Sequencing Primer
(F):5'- ATCGTGCTCCTAAGAGTGCAG -3'
(R):5'- AGAGTCAGCCAGCTTCATTTAC -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation