Incidental Mutation 'IGL00159:Sgcg'
| ID |
949 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgcg
|
| Ensembl Gene |
ENSMUSG00000035296 |
| Gene Name |
sarcoglycan, gamma (dystrophin-associated glycoprotein) |
| Synonyms |
gamma-SG, 5430420E18Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.196)
|
| Stock # |
IGL00159
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
61219115-61258490 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 61232475 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 146
(D146N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077954]
[ENSMUST00000089394]
[ENSMUST00000121148]
|
| AlphaFold |
P82348 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077954
AA Change: D146N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000077106
Gene: ENSMUSG00000035296
AA Change: D146N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
25 |
280 |
1.2e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089394
|
| SMART Domains |
Protein: ENSMUSP00000086816
Gene: ENSMUSG00000048279
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1lm8b_
|
8 |
66 |
3e-3 |
SMART |
|
Blast:UBQ
|
9 |
81 |
3e-31 |
BLAST |
|
Blast:HATPase_c
|
116 |
211 |
2e-10 |
BLAST |
|
low complexity region
|
608 |
623 |
N/A |
INTRINSIC |
|
low complexity region
|
664 |
673 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121148
AA Change: D146N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000112576
Gene: ENSMUSG00000035296
AA Change: D146N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
23 |
284 |
1.1e-106 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129886
|
| SMART Domains |
Protein: ENSMUSP00000117191
Gene: ENSMUSG00000035296
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
1 |
81 |
8e-20 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes gamma-sarcoglycan, one of several sarcolemmal transmembrane glycoproteins that interact with dystrophin. The dystrophin-glycoprotein complex (DGC) spans the sarcolemma and is comprised of dystrophin, syntrophin, alpha- and beta-dystroglycans and sarcoglycans. The DGC provides a structural link between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. Defects in the encoded protein can lead to early onset autosomal recessive muscular dystrophy, in particular limb-girdle muscular dystrophy, type 2C (LGMD2C). [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in muscles and heart similar to muscular dystrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030624J02Rik |
G |
A |
7: 118,797,047 (GRCm38) |
|
probably null |
Het |
| Axin1 |
A |
T |
17: 26,142,805 (GRCm38) |
D41V |
possibly damaging |
Het |
| BC034090 |
C |
A |
1: 155,225,451 (GRCm38) |
E718* |
probably null |
Het |
| Cdc123 |
G |
T |
2: 5,804,935 (GRCm38) |
Q222K |
probably benign |
Het |
| Clip1 |
A |
C |
5: 123,603,654 (GRCm38) |
V1053G |
possibly damaging |
Het |
| Dock7 |
T |
A |
4: 99,063,985 (GRCm38) |
E416V |
probably damaging |
Het |
| Dydc1 |
T |
C |
14: 41,087,413 (GRCm38) |
L143P |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,158,839 (GRCm38) |
V732A |
probably benign |
Het |
| Dzip1l |
T |
A |
9: 99,637,777 (GRCm38) |
L119Q |
probably damaging |
Het |
| Erp27 |
T |
A |
6: 136,909,502 (GRCm38) |
S178C |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,397,873 (GRCm38) |
V298A |
probably benign |
Het |
| Fbxo34 |
A |
G |
14: 47,529,474 (GRCm38) |
H97R |
probably damaging |
Het |
| Gm20521 |
C |
T |
14: 54,884,622 (GRCm38) |
Q81* |
probably null |
Het |
| Gspt1 |
T |
C |
16: 11,222,612 (GRCm38) |
M610V |
probably damaging |
Het |
| Herc1 |
A |
G |
9: 66,437,682 (GRCm38) |
Q1919R |
possibly damaging |
Het |
| Il19 |
A |
G |
1: 130,935,055 (GRCm38) |
|
probably benign |
Het |
| Kif14 |
G |
A |
1: 136,469,018 (GRCm38) |
S354N |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,747,799 (GRCm38) |
K1309E |
possibly damaging |
Het |
| Lurap1 |
T |
C |
4: 116,137,690 (GRCm38) |
T115A |
probably damaging |
Het |
| Myo18b |
G |
T |
5: 112,874,131 (GRCm38) |
T465K |
probably benign |
Het |
| Nwd1 |
A |
T |
8: 72,671,077 (GRCm38) |
D648V |
probably damaging |
Het |
| Olfr272 |
T |
G |
4: 52,911,618 (GRCm38) |
M59L |
possibly damaging |
Het |
| Olfr520 |
G |
A |
7: 99,735,317 (GRCm38) |
R58H |
probably benign |
Het |
| Otof |
T |
C |
5: 30,375,904 (GRCm38) |
Y1527C |
probably damaging |
Het |
| Otop3 |
G |
A |
11: 115,344,397 (GRCm38) |
C285Y |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,471,387 (GRCm38) |
I478T |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,457,983 (GRCm38) |
E265K |
possibly damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,896,125 (GRCm38) |
L634P |
probably damaging |
Het |
| Prkg1 |
C |
A |
19: 31,302,340 (GRCm38) |
V165L |
probably benign |
Het |
| Riok3 |
A |
G |
18: 12,148,891 (GRCm38) |
I306V |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,113,082 (GRCm38) |
D439G |
probably benign |
Het |
| Scn2a |
T |
A |
2: 65,743,090 (GRCm38) |
I1428N |
probably damaging |
Het |
| Slc16a9 |
A |
G |
10: 70,282,699 (GRCm38) |
R283G |
probably benign |
Het |
| Sptb |
T |
C |
12: 76,621,331 (GRCm38) |
D664G |
probably benign |
Het |
| Tmprss3 |
T |
A |
17: 31,195,008 (GRCm38) |
D54V |
probably damaging |
Het |
| Ttc37 |
T |
C |
13: 76,143,278 (GRCm38) |
|
probably null |
Het |
| Tubd1 |
G |
T |
11: 86,565,729 (GRCm38) |
V374F |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,428,785 (GRCm38) |
M83K |
probably benign |
Het |
| Vps13c |
A |
G |
9: 67,945,999 (GRCm38) |
E2458G |
probably benign |
Het |
| Zhx2 |
A |
T |
15: 57,822,870 (GRCm38) |
E545V |
probably damaging |
Het |
|
| Other mutations in Sgcg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Sgcg
|
APN |
14 |
61,240,347 (GRCm38) |
nonsense |
probably null |
|
|
R0466:Sgcg
|
UTSW |
14 |
61,221,686 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1236:Sgcg
|
UTSW |
14 |
61,245,770 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1870:Sgcg
|
UTSW |
14 |
61,240,447 (GRCm38) |
splice site |
probably benign |
|
|
R1879:Sgcg
|
UTSW |
14 |
61,236,897 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1933:Sgcg
|
UTSW |
14 |
61,232,412 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R2090:Sgcg
|
UTSW |
14 |
61,245,764 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2937:Sgcg
|
UTSW |
14 |
61,229,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2938:Sgcg
|
UTSW |
14 |
61,229,625 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3508:Sgcg
|
UTSW |
14 |
61,221,746 (GRCm38) |
missense |
probably benign |
|
|
R5345:Sgcg
|
UTSW |
14 |
61,245,769 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5464:Sgcg
|
UTSW |
14 |
61,236,855 (GRCm38) |
missense |
possibly damaging |
0.65 |
|
R5582:Sgcg
|
UTSW |
14 |
61,225,305 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7259:Sgcg
|
UTSW |
14 |
61,225,217 (GRCm38) |
missense |
probably benign |
0.30 |
|
R7335:Sgcg
|
UTSW |
14 |
61,240,367 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8339:Sgcg
|
UTSW |
14 |
61,232,517 (GRCm38) |
missense |
probably benign |
|
|
R8482:Sgcg
|
UTSW |
14 |
61,240,407 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8807:Sgcg
|
UTSW |
14 |
61,232,481 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8916:Sgcg
|
UTSW |
14 |
61,236,892 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2011-07-12 |
Incidental Mutation