Incidental Mutation 'IGL01763:Sgcd'
| ID |
153620 |
| 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 # |
IGL01763
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46861904-47880309 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 47085856 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 null
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 null
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acer3 |
C |
T |
7: 97,915,339 (GRCm39) |
|
probably benign |
Het |
| Atp4a |
A |
G |
7: 30,414,943 (GRCm39) |
E244G |
probably benign |
Het |
| Cdh20 |
T |
C |
1: 109,993,520 (GRCm39) |
I325T |
probably benign |
Het |
| Dennd2c |
T |
C |
3: 103,064,224 (GRCm39) |
L623P |
probably damaging |
Het |
| Eef1akmt3 |
T |
C |
10: 126,876,952 (GRCm39) |
D65G |
probably benign |
Het |
| Gimap3 |
T |
A |
6: 48,742,430 (GRCm39) |
S167C |
probably damaging |
Het |
| Gm12185 |
A |
T |
11: 48,806,671 (GRCm39) |
F173L |
probably benign |
Het |
| Gm5611 |
A |
G |
9: 16,941,699 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr161 |
T |
C |
1: 165,144,820 (GRCm39) |
S387P |
probably benign |
Het |
| Hsd17b8 |
A |
G |
17: 34,245,835 (GRCm39) |
V219A |
probably damaging |
Het |
| Mtfr2 |
G |
A |
10: 20,228,683 (GRCm39) |
|
probably benign |
Het |
| Myh8 |
A |
G |
11: 67,177,245 (GRCm39) |
K437R |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,412,564 (GRCm39) |
D3335G |
probably benign |
Het |
| Ndufaf7 |
C |
T |
17: 79,253,771 (GRCm39) |
T323I |
possibly damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,691 (GRCm39) |
N269S |
probably benign |
Het |
| Pcdh15 |
T |
C |
10: 74,046,293 (GRCm39) |
V190A |
probably benign |
Het |
| Pdzd2 |
A |
G |
15: 12,372,632 (GRCm39) |
V2501A |
probably benign |
Het |
| Piwil4 |
A |
T |
9: 14,617,562 (GRCm39) |
|
probably null |
Het |
| Plxnb2 |
C |
T |
15: 89,046,184 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,473,236 (GRCm39) |
K519E |
probably damaging |
Het |
| Slc26a4 |
C |
T |
12: 31,578,853 (GRCm39) |
|
probably benign |
Het |
| Spty2d1 |
T |
C |
7: 46,649,596 (GRCm39) |
D33G |
probably damaging |
Het |
| Txnrd3 |
C |
T |
6: 89,638,537 (GRCm39) |
T242I |
probably damaging |
Het |
| Vps13b |
A |
G |
15: 35,709,945 (GRCm39) |
D1964G |
possibly damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,164 (GRCm39) |
T300A |
probably benign |
Het |
| Zc2hc1c |
C |
A |
12: 85,336,450 (GRCm39) |
Q36K |
probably benign |
Het |
| Zfp719 |
A |
T |
7: 43,233,613 (GRCm39) |
I11F |
probably benign |
Het |
|
| Other mutations in Sgcd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02013:Sgcd
|
APN |
11 |
46,871,770 (GRCm39) |
intron |
probably benign |
|
|
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 |
2014-02-04 |
Incidental Mutation