Incidental Mutation 'R1236:Sgcg'
| ID |
152442 |
| Institutional Source |
Beutler Lab
|
| 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: 0.129)
|
| Stock # |
R1236 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
61456564-61495939 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 61483219 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 61
(M61V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000077954]
[ENSMUST00000121148]
|
| AlphaFold |
P82348 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000077954
AA Change: M61V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000077106
Gene: ENSMUSG00000035296
AA Change: M61V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
25 |
280 |
1.2e-81 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121148
AA Change: M61V
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000112576
Gene: ENSMUSG00000035296
AA Change: M61V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
23 |
284 |
1.1e-106 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.8%
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,685,756 (GRCm39) |
Y360C |
probably damaging |
Het |
| Afap1l2 |
T |
A |
19: 56,904,904 (GRCm39) |
H566L |
possibly damaging |
Het |
| Aqr |
G |
T |
2: 113,947,136 (GRCm39) |
F1015L |
probably damaging |
Het |
| Cep112 |
T |
A |
11: 108,750,200 (GRCm39) |
L901H |
probably damaging |
Het |
| Col26a1 |
A |
G |
5: 136,783,780 (GRCm39) |
V229A |
probably benign |
Het |
| Cyp4a14 |
T |
C |
4: 115,349,367 (GRCm39) |
N231S |
probably benign |
Het |
| Dmac2l |
T |
C |
12: 69,788,592 (GRCm39) |
|
probably null |
Het |
| G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
| Gm37240 |
T |
A |
3: 84,435,003 (GRCm39) |
N13I |
probably benign |
Het |
| Kbtbd7 |
G |
T |
14: 79,665,272 (GRCm39) |
C368F |
probably benign |
Het |
| Kyat3 |
A |
G |
3: 142,444,020 (GRCm39) |
D418G |
probably benign |
Het |
| Lpcat2 |
A |
G |
8: 93,613,197 (GRCm39) |
M246V |
probably damaging |
Het |
| Nbas |
T |
A |
12: 13,319,242 (GRCm39) |
W31R |
probably damaging |
Het |
| Nckap1 |
C |
T |
2: 80,348,286 (GRCm39) |
S889N |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 173,956,273 (GRCm39) |
|
probably null |
Het |
| Or6c212 |
A |
G |
10: 129,558,675 (GRCm39) |
V246A |
probably damaging |
Het |
| Or8b1 |
T |
C |
9: 38,399,525 (GRCm39) |
S67P |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,943,056 (GRCm39) |
L147P |
probably damaging |
Het |
| Pkp2 |
C |
A |
16: 16,043,766 (GRCm39) |
H173Q |
probably benign |
Het |
| Prlr |
C |
A |
15: 10,325,367 (GRCm39) |
T180K |
probably benign |
Het |
| Psph |
A |
G |
5: 129,848,540 (GRCm39) |
M47T |
probably damaging |
Het |
| Rufy2 |
A |
G |
10: 62,830,549 (GRCm39) |
N217S |
probably benign |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Spint1 |
A |
G |
2: 119,076,054 (GRCm39) |
T217A |
probably benign |
Het |
| Tert |
T |
C |
13: 73,784,498 (GRCm39) |
L648P |
probably damaging |
Het |
| Vwde |
A |
T |
6: 13,187,152 (GRCm39) |
Y778* |
probably null |
Het |
| Zeb2 |
T |
A |
2: 44,884,658 (GRCm39) |
D967V |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,919,355 (GRCm39) |
N139S |
probably benign |
Het |
| Zscan26 |
T |
C |
13: 21,629,940 (GRCm39) |
M188V |
probably benign |
Het |
|
| Other mutations in Sgcg |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Sgcg
|
APN |
14 |
61,477,796 (GRCm39) |
nonsense |
probably null |
|
|
IGL00159:Sgcg
|
APN |
14 |
61,469,924 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0466:Sgcg
|
UTSW |
14 |
61,459,135 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1870:Sgcg
|
UTSW |
14 |
61,477,896 (GRCm39) |
splice site |
probably benign |
|
|
R1879:Sgcg
|
UTSW |
14 |
61,474,346 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1933:Sgcg
|
UTSW |
14 |
61,469,861 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R2090:Sgcg
|
UTSW |
14 |
61,483,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2937:Sgcg
|
UTSW |
14 |
61,467,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Sgcg
|
UTSW |
14 |
61,467,074 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:Sgcg
|
UTSW |
14 |
61,459,195 (GRCm39) |
missense |
probably benign |
|
|
R5345:Sgcg
|
UTSW |
14 |
61,483,218 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5464:Sgcg
|
UTSW |
14 |
61,474,304 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R5582:Sgcg
|
UTSW |
14 |
61,462,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7259:Sgcg
|
UTSW |
14 |
61,462,666 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7335:Sgcg
|
UTSW |
14 |
61,477,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8339:Sgcg
|
UTSW |
14 |
61,469,966 (GRCm39) |
missense |
probably benign |
|
|
R8482:Sgcg
|
UTSW |
14 |
61,477,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8807:Sgcg
|
UTSW |
14 |
61,469,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8916:Sgcg
|
UTSW |
14 |
61,474,341 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAGATGAGAGCAGACATGCAAACACT -3'
(R):5'- GGTCACCGAGGGCACTCACATA -3'
Sequencing Primer
(F):5'- TGACAACATGAGGAAAATCCAGTTC -3'
(R):5'- CTCACATAGAGAGGCCCGAG -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation