Incidental Mutation 'IGL03330:Sgcb'
ID |
416826 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sgcb
|
Ensembl Gene |
ENSMUSG00000029156 |
Gene Name |
sarcoglycan, beta (dystrophin-associated glycoprotein) |
Synonyms |
beta-SG |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.216)
|
Stock # |
IGL03330
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
73790092-73805080 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 73797212 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 183
(S183C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000079937
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081170]
|
AlphaFold |
P82349 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081170
AA Change: S183C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000079937 Gene: ENSMUSG00000029156 AA Change: S183C
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
56 |
305 |
4.3e-67 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201416
|
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 a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008] PHENOTYPE: Mice homozygous for a null allele exhibit muscular dystrophy and cardiomyopathy. [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 |
4933427D14Rik |
T |
C |
11: 72,050,254 (GRCm39) |
I837V |
probably damaging |
Het |
Actr2 |
A |
G |
11: 20,041,330 (GRCm39) |
V138A |
probably benign |
Het |
Adam30 |
G |
A |
3: 98,069,772 (GRCm39) |
C535Y |
probably damaging |
Het |
Bcor |
G |
A |
X: 11,925,110 (GRCm39) |
T162I |
possibly damaging |
Het |
Catsperd |
C |
A |
17: 56,939,316 (GRCm39) |
N48K |
possibly damaging |
Het |
Ccr2 |
T |
C |
9: 123,905,996 (GRCm39) |
I92T |
probably damaging |
Het |
Cp |
A |
G |
3: 20,020,599 (GRCm39) |
I197M |
probably damaging |
Het |
Cpne3 |
T |
A |
4: 19,553,774 (GRCm39) |
T86S |
possibly damaging |
Het |
Dnm3 |
A |
T |
1: 162,148,560 (GRCm39) |
D270E |
probably benign |
Het |
Enpp1 |
C |
T |
10: 24,540,804 (GRCm39) |
|
probably benign |
Het |
Ephx1 |
A |
G |
1: 180,827,371 (GRCm39) |
V94A |
possibly damaging |
Het |
Fbxw25 |
T |
C |
9: 109,474,307 (GRCm39) |
M448V |
probably benign |
Het |
Fhl2 |
A |
G |
1: 43,192,351 (GRCm39) |
L14P |
probably damaging |
Het |
Gabra4 |
T |
C |
5: 71,798,407 (GRCm39) |
R191G |
probably null |
Het |
Gtpbp6 |
T |
C |
5: 110,254,929 (GRCm39) |
T151A |
possibly damaging |
Het |
Lars1 |
T |
A |
18: 42,353,009 (GRCm39) |
M803L |
probably benign |
Het |
Myc |
A |
G |
15: 61,859,998 (GRCm39) |
T224A |
probably benign |
Het |
Noxa1 |
T |
A |
2: 24,980,526 (GRCm39) |
D161V |
possibly damaging |
Het |
Or2w3b |
A |
C |
11: 58,623,745 (GRCm39) |
L82R |
probably damaging |
Het |
Or4l1 |
C |
T |
14: 50,166,678 (GRCm39) |
G108R |
probably damaging |
Het |
Or8g52 |
C |
T |
9: 39,630,784 (GRCm39) |
T87I |
probably benign |
Het |
Peg3 |
G |
T |
7: 6,713,412 (GRCm39) |
N603K |
probably damaging |
Het |
Rhox4c |
G |
T |
X: 36,662,181 (GRCm39) |
G15V |
probably benign |
Het |
Slc6a19 |
T |
A |
13: 73,837,679 (GRCm39) |
I239F |
possibly damaging |
Het |
Socs7 |
T |
C |
11: 97,269,378 (GRCm39) |
Y399H |
probably damaging |
Het |
Stc2 |
T |
C |
11: 31,319,804 (GRCm39) |
D20G |
probably benign |
Het |
Tmem184b |
A |
T |
15: 79,254,179 (GRCm39) |
|
probably null |
Het |
Tpo |
A |
G |
12: 30,153,500 (GRCm39) |
S285P |
probably damaging |
Het |
Vmn2r27 |
G |
T |
6: 124,207,139 (GRCm39) |
Y167* |
probably null |
Het |
|
Other mutations in Sgcb |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00392:Sgcb
|
APN |
5 |
73,793,021 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL02504:Sgcb
|
APN |
5 |
73,801,718 (GRCm39) |
missense |
probably damaging |
0.96 |
PIT4445001:Sgcb
|
UTSW |
5 |
73,797,155 (GRCm39) |
missense |
probably damaging |
0.99 |
R0708:Sgcb
|
UTSW |
5 |
73,798,225 (GRCm39) |
splice site |
probably null |
|
R1016:Sgcb
|
UTSW |
5 |
73,797,183 (GRCm39) |
missense |
probably benign |
0.18 |
R1119:Sgcb
|
UTSW |
5 |
73,801,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R1293:Sgcb
|
UTSW |
5 |
73,792,870 (GRCm39) |
missense |
probably benign |
0.13 |
R1464:Sgcb
|
UTSW |
5 |
73,792,896 (GRCm39) |
missense |
probably benign |
0.05 |
R1464:Sgcb
|
UTSW |
5 |
73,792,896 (GRCm39) |
missense |
probably benign |
0.05 |
R2762:Sgcb
|
UTSW |
5 |
73,793,052 (GRCm39) |
splice site |
probably null |
|
R5499:Sgcb
|
UTSW |
5 |
73,801,748 (GRCm39) |
missense |
probably damaging |
0.99 |
R6120:Sgcb
|
UTSW |
5 |
73,798,153 (GRCm39) |
missense |
possibly damaging |
0.62 |
R6809:Sgcb
|
UTSW |
5 |
73,798,036 (GRCm39) |
missense |
probably benign |
0.03 |
R7484:Sgcb
|
UTSW |
5 |
73,797,188 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7647:Sgcb
|
UTSW |
5 |
73,796,720 (GRCm39) |
splice site |
probably null |
|
R8797:Sgcb
|
UTSW |
5 |
73,793,036 (GRCm39) |
missense |
probably benign |
0.00 |
R8939:Sgcb
|
UTSW |
5 |
73,801,661 (GRCm39) |
missense |
probably damaging |
0.98 |
R9394:Sgcb
|
UTSW |
5 |
73,801,653 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Sgcb
|
UTSW |
5 |
73,801,628 (GRCm39) |
frame shift |
probably null |
|
|
Posted On |
2016-08-02 |