Incidental Mutation 'IGL02013:Sgcd'
| ID |
183433 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sgcd
|
| Ensembl Gene |
ENSMUSG00000020354 |
| Gene Name |
sarcoglycan, delta (dystrophin-associated glycoprotein) |
| Synonyms |
delta-SG |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
IGL02013
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46861904-47880309 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 46871770 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104843
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077221]
[ENSMUST00000109220]
|
| AlphaFold |
P82347 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077221
|
| SMART Domains |
Protein: ENSMUSP00000076459
Gene: ENSMUSG00000020354
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
23 |
278 |
3.2e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109220
|
| SMART Domains |
Protein: ENSMUSP00000104843
Gene: ENSMUSG00000020354
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
21 |
192 |
2.4e-68 |
PFAM |
|
| 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 is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display cardiomyopathy and muscular dystrophy. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
A |
G |
8: 111,773,698 (GRCm39) |
Y543C |
probably damaging |
Het |
| Acp4 |
G |
T |
7: 43,904,505 (GRCm39) |
T186N |
probably benign |
Het |
| Adgrg6 |
T |
A |
10: 14,302,555 (GRCm39) |
M953L |
probably damaging |
Het |
| Cp |
C |
A |
3: 20,042,213 (GRCm39) |
H994N |
probably damaging |
Het |
| Csmd2 |
G |
A |
4: 128,215,116 (GRCm39) |
D513N |
possibly damaging |
Het |
| Gm28557 |
A |
G |
13: 67,219,116 (GRCm39) |
F248L |
probably benign |
Het |
| Nup155 |
G |
T |
15: 8,143,132 (GRCm39) |
M100I |
possibly damaging |
Het |
| Odad2 |
A |
G |
18: 7,265,157 (GRCm39) |
|
probably benign |
Het |
| Or8b12b |
A |
G |
9: 37,684,185 (GRCm39) |
I77V |
probably benign |
Het |
| Or8c11 |
G |
A |
9: 38,289,373 (GRCm39) |
M59I |
probably benign |
Het |
| Pgm1 |
G |
A |
4: 99,841,158 (GRCm39) |
|
probably benign |
Het |
| Reln |
A |
G |
5: 22,155,877 (GRCm39) |
F2205S |
probably damaging |
Het |
| Scmh1 |
G |
A |
4: 120,340,929 (GRCm39) |
R205Q |
possibly damaging |
Het |
| Sema3e |
G |
A |
5: 14,280,207 (GRCm39) |
G362D |
probably damaging |
Het |
| Sftpb |
C |
T |
6: 72,282,655 (GRCm39) |
T79I |
probably benign |
Het |
| Shprh |
T |
A |
10: 11,057,246 (GRCm39) |
|
probably benign |
Het |
| Spmap2 |
T |
C |
10: 79,415,769 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
C |
T |
7: 4,946,835 (GRCm39) |
S1063F |
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,936,837 (GRCm39) |
T1404A |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,800,863 (GRCm39) |
P358S |
probably benign |
Het |
| Wnk2 |
A |
T |
13: 49,235,510 (GRCm39) |
M635K |
possibly damaging |
Het |
| Zfp474 |
C |
A |
18: 52,771,971 (GRCm39) |
A208D |
possibly damaging |
Het |
|
| Other mutations in Sgcd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01763:Sgcd
|
APN |
11 |
47,085,856 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02447:Sgcd
|
APN |
11 |
46,870,082 (GRCm39) |
intron |
probably benign |
|
|
R1682:Sgcd
|
UTSW |
11 |
47,085,869 (GRCm39) |
missense |
probably benign |
|
|
R1879:Sgcd
|
UTSW |
11 |
47,246,068 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1894:Sgcd
|
UTSW |
11 |
47,085,937 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2238:Sgcd
|
UTSW |
11 |
47,023,509 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R3788:Sgcd
|
UTSW |
11 |
47,246,032 (GRCm39) |
nonsense |
probably null |
|
|
R4948:Sgcd
|
UTSW |
11 |
46,870,262 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5179:Sgcd
|
UTSW |
11 |
46,871,711 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5894:Sgcd
|
UTSW |
11 |
47,246,028 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Sgcd
|
UTSW |
11 |
47,016,428 (GRCm39) |
nonsense |
probably null |
|
|
R7579:Sgcd
|
UTSW |
11 |
47,016,481 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9150:Sgcd
|
UTSW |
11 |
46,870,170 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9291:Sgcd
|
UTSW |
11 |
46,870,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Sgcd
|
UTSW |
11 |
47,246,200 (GRCm39) |
start codon destroyed |
possibly damaging |
0.79 |
|
| Posted On |
2014-05-07 |
Incidental Mutation