Incidental Mutation 'R5179:Sgcd'
| ID |
399404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgcd
|
| Ensembl Gene |
ENSMUSG00000020354 |
| Gene Name |
sarcoglycan, delta (dystrophin-associated glycoprotein) |
| Synonyms |
delta-SG |
| MMRRC Submission |
042759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R5179 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
46861904-47880309 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 46871711 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 208
(E208V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076459
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077221]
[ENSMUST00000109220]
|
| AlphaFold |
P82347 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077221
AA Change: E208V
PolyPhen 2
Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000076459
Gene: ENSMUSG00000020354
AA Change: E208V
| 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 |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (37/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B9d2 |
C |
A |
7: 25,380,826 (GRCm39) |
H5Q |
probably damaging |
Het |
| Bhlhe40 |
T |
C |
6: 108,642,169 (GRCm39) |
I371T |
possibly damaging |
Het |
| Bmp8a |
C |
T |
4: 123,207,094 (GRCm39) |
R389H |
probably damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,845,563 (GRCm39) |
N326K |
possibly damaging |
Het |
| Ccdc154 |
A |
G |
17: 25,390,137 (GRCm39) |
N545S |
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,308 (GRCm39) |
S359T |
possibly damaging |
Het |
| Cd22 |
T |
A |
7: 30,575,299 (GRCm39) |
T248S |
possibly damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dnhd1 |
T |
C |
7: 105,363,759 (GRCm39) |
I4107T |
probably damaging |
Het |
| Egf |
T |
A |
3: 129,479,936 (GRCm39) |
H488L |
probably damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,063,181 (GRCm39) |
V503A |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,531,118 (GRCm39) |
W105L |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,121 (GRCm39) |
R486S |
probably benign |
Het |
| Gadl1 |
C |
A |
9: 115,789,448 (GRCm39) |
C251* |
probably null |
Het |
| Ifit2 |
C |
A |
19: 34,550,976 (GRCm39) |
P172Q |
probably damaging |
Het |
| Incenp |
G |
C |
19: 9,872,273 (GRCm39) |
Q62E |
unknown |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Lrg1 |
A |
G |
17: 56,427,795 (GRCm39) |
L59P |
possibly damaging |
Het |
| Luc7l3 |
T |
C |
11: 94,190,879 (GRCm39) |
E145G |
possibly damaging |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Ndst3 |
A |
G |
3: 123,346,181 (GRCm39) |
S698P |
probably damaging |
Het |
| Nploc4 |
T |
C |
11: 120,299,682 (GRCm39) |
D346G |
probably benign |
Het |
| Or4m1 |
G |
A |
14: 50,557,993 (GRCm39) |
Q100* |
probably null |
Het |
| Or56b1b |
T |
C |
7: 108,164,433 (GRCm39) |
I190V |
probably benign |
Het |
| Osbpl8 |
T |
G |
10: 111,108,025 (GRCm39) |
D298E |
probably benign |
Het |
| Pcna-ps2 |
T |
C |
19: 9,260,891 (GRCm39) |
L50P |
probably damaging |
Het |
| Ptgir |
C |
T |
7: 16,641,253 (GRCm39) |
P182S |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,825,421 (GRCm39) |
Y1653C |
probably damaging |
Het |
| Slc7a8 |
A |
T |
14: 54,962,289 (GRCm39) |
C448* |
probably null |
Het |
| Sos2 |
G |
A |
12: 69,697,502 (GRCm39) |
R73* |
probably null |
Het |
| Tecpr2 |
A |
G |
12: 110,911,127 (GRCm39) |
T1055A |
possibly damaging |
Het |
| Usp47 |
T |
C |
7: 111,692,639 (GRCm39) |
Y1014H |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,445,411 (GRCm39) |
F682L |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGATGTTCAACCCTCTCATG -3'
(R):5'- ACTAAAGCCTAGAACTGTTACACTC -3'
Sequencing Primer
(F):5'- CATGGGTTGATATTAATCTCAGTGC -3'
(R):5'- GCCTAGAACTGTTACACTCTGATAC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation