Incidental Mutation 'R0708:Sgcb'
| ID |
63845 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgcb
|
| Ensembl Gene |
ENSMUSG00000029156 |
| Gene Name |
sarcoglycan, beta (dystrophin-associated glycoprotein) |
| Synonyms |
beta-SG |
| MMRRC Submission |
038891-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.216)
|
| Stock # |
R0708 (G1)
|
| Quality Score |
147 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
73790092-73805080 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 73798225 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000079937
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081170]
|
| AlphaFold |
P82349 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000081170
|
| SMART Domains |
Protein: ENSMUSP00000079937
Gene: ENSMUSG00000029156
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Sarcoglycan_1
|
56 |
305 |
4.3e-67 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201416
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.3%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Brdt |
A |
T |
5: 107,506,766 (GRCm39) |
K450* |
probably null |
Het |
| Cand2 |
G |
A |
6: 115,780,766 (GRCm39) |
E1217K |
probably damaging |
Het |
| Col9a1 |
A |
T |
1: 24,276,342 (GRCm39) |
Q750L |
possibly damaging |
Het |
| Dnah6 |
A |
T |
6: 73,189,605 (GRCm39) |
S14R |
probably benign |
Het |
| Enox1 |
A |
G |
14: 77,830,352 (GRCm39) |
N319S |
probably benign |
Het |
| Frs2 |
G |
A |
10: 116,909,997 (GRCm39) |
T455M |
probably damaging |
Het |
| Glra3 |
C |
T |
8: 56,578,399 (GRCm39) |
|
probably benign |
Het |
| Gmppa |
T |
C |
1: 75,419,218 (GRCm39) |
F375S |
probably damaging |
Het |
| Hectd4 |
G |
A |
5: 121,424,526 (GRCm39) |
|
probably null |
Het |
| Hgf |
C |
A |
5: 16,771,761 (GRCm39) |
C129* |
probably null |
Het |
| Insc |
T |
A |
7: 114,444,381 (GRCm39) |
V456E |
probably damaging |
Het |
| Ints14 |
G |
A |
9: 64,891,266 (GRCm39) |
V416I |
probably benign |
Het |
| Klk1b11 |
T |
C |
7: 43,647,152 (GRCm39) |
F29L |
possibly damaging |
Het |
| Ogfod1 |
C |
T |
8: 94,765,673 (GRCm39) |
L79F |
possibly damaging |
Het |
| Or8d2b |
T |
A |
9: 38,788,571 (GRCm39) |
V33E |
probably damaging |
Het |
| Orc3 |
A |
T |
4: 34,597,368 (GRCm39) |
I224N |
probably damaging |
Het |
| Papss2 |
T |
C |
19: 32,614,616 (GRCm39) |
F111L |
probably damaging |
Het |
| Poc1b |
A |
G |
10: 98,990,992 (GRCm39) |
D291G |
probably null |
Het |
| Prl8a8 |
A |
T |
13: 27,695,528 (GRCm39) |
M72K |
possibly damaging |
Het |
| Ptpn7 |
C |
A |
1: 135,062,285 (GRCm39) |
T77K |
probably damaging |
Het |
| Ptpro |
T |
C |
6: 137,363,251 (GRCm39) |
S462P |
probably benign |
Het |
| Rab3gap2 |
T |
A |
1: 184,982,123 (GRCm39) |
S392T |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,866,755 (GRCm39) |
V245A |
probably benign |
Het |
| Slc24a1 |
T |
A |
9: 64,855,172 (GRCm39) |
K578N |
unknown |
Het |
| Sptbn1 |
A |
T |
11: 30,064,739 (GRCm39) |
V1920E |
probably damaging |
Het |
| Tecr |
A |
T |
8: 84,299,738 (GRCm39) |
I101N |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,179,984 (GRCm39) |
F277L |
probably benign |
Het |
| Tgs1 |
T |
A |
4: 3,586,152 (GRCm39) |
L343H |
probably benign |
Het |
| Thbs4 |
C |
A |
13: 92,909,694 (GRCm39) |
G368W |
probably damaging |
Het |
| Zfp558 |
T |
C |
9: 18,368,123 (GRCm39) |
S222G |
possibly damaging |
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 |
|
IGL03330:Sgcb
|
APN |
5 |
73,797,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4445001:Sgcb
|
UTSW |
5 |
73,797,155 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTGCTCTTATAAAGCGGGTGGATGAC -3'
(R):5'- AAGCAGAACTGACCTCGTCTGAGTAG -3'
Sequencing Primer
(F):5'- TGGATGACGCCCATGTCAG -3'
(R):5'- gaggggagaagaggaaacag -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation