Incidental Mutation 'R0076:Sgcz'
ID |
262054 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sgcz
|
Ensembl Gene |
ENSMUSG00000039539 |
Gene Name |
sarcoglycan zeta |
Synonyms |
C230085N17Rik |
MMRRC Submission |
038363-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.074)
|
Stock # |
R0076 (G1)
|
Quality Score |
34 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
37989452-39128662 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 38012596 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117250
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118896]
[ENSMUST00000135764]
|
AlphaFold |
Q8BX51 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000118896
|
SMART Domains |
Protein: ENSMUSP00000113912 Gene: ENSMUSG00000039539
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
38 |
298 |
4.7e-92 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135764
|
SMART Domains |
Protein: ENSMUSP00000117250 Gene: ENSMUSG00000039539
Domain | Start | End | E-Value | Type |
Pfam:Sarcoglycan_1
|
38 |
201 |
4.4e-54 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
100% (50/50) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
Ccnd1 |
A |
C |
7: 144,493,402 (GRCm39) |
V10G |
probably benign |
Het |
Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
Galntl5 |
A |
G |
5: 25,391,070 (GRCm39) |
|
probably null |
Het |
Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
probably benign |
Het |
|
Other mutations in Sgcz |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01966:Sgcz
|
APN |
8 |
38,107,169 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02593:Sgcz
|
APN |
8 |
37,990,432 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL03237:Sgcz
|
APN |
8 |
38,030,332 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03238:Sgcz
|
APN |
8 |
38,030,294 (GRCm39) |
critical splice donor site |
probably null |
|
R0276:Sgcz
|
UTSW |
8 |
38,420,073 (GRCm39) |
missense |
probably benign |
0.18 |
R2095:Sgcz
|
UTSW |
8 |
38,007,546 (GRCm39) |
splice site |
probably benign |
|
R3623:Sgcz
|
UTSW |
8 |
38,420,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R3624:Sgcz
|
UTSW |
8 |
38,420,201 (GRCm39) |
missense |
probably damaging |
0.96 |
R3862:Sgcz
|
UTSW |
8 |
37,990,565 (GRCm39) |
missense |
probably benign |
|
R3863:Sgcz
|
UTSW |
8 |
37,990,565 (GRCm39) |
missense |
probably benign |
|
R3953:Sgcz
|
UTSW |
8 |
37,993,346 (GRCm39) |
splice site |
probably benign |
|
R3956:Sgcz
|
UTSW |
8 |
37,993,346 (GRCm39) |
splice site |
probably benign |
|
R5120:Sgcz
|
UTSW |
8 |
37,993,420 (GRCm39) |
missense |
probably benign |
0.30 |
R5121:Sgcz
|
UTSW |
8 |
38,006,821 (GRCm39) |
missense |
probably damaging |
1.00 |
R5431:Sgcz
|
UTSW |
8 |
38,107,138 (GRCm39) |
missense |
probably damaging |
0.98 |
R5913:Sgcz
|
UTSW |
8 |
37,993,425 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6921:Sgcz
|
UTSW |
8 |
37,993,443 (GRCm39) |
missense |
probably damaging |
1.00 |
R7151:Sgcz
|
UTSW |
8 |
38,006,833 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7412:Sgcz
|
UTSW |
8 |
37,990,565 (GRCm39) |
missense |
probably benign |
|
R7507:Sgcz
|
UTSW |
8 |
38,420,200 (GRCm39) |
missense |
probably benign |
0.05 |
R7554:Sgcz
|
UTSW |
8 |
38,030,426 (GRCm39) |
splice site |
probably null |
|
R8121:Sgcz
|
UTSW |
8 |
37,990,457 (GRCm39) |
missense |
probably damaging |
1.00 |
R8355:Sgcz
|
UTSW |
8 |
38,190,239 (GRCm39) |
missense |
probably benign |
0.00 |
R8455:Sgcz
|
UTSW |
8 |
38,190,239 (GRCm39) |
missense |
probably benign |
0.00 |
R8486:Sgcz
|
UTSW |
8 |
38,190,207 (GRCm39) |
missense |
probably benign |
0.01 |
R8871:Sgcz
|
UTSW |
8 |
38,420,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8931:Sgcz
|
UTSW |
8 |
38,107,140 (GRCm39) |
missense |
probably damaging |
0.98 |
R8997:Sgcz
|
UTSW |
8 |
39,127,894 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
|
Posted On |
2015-02-04 |