Incidental Mutation 'R3863:Sgcz'
| ID |
276428 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sgcz
|
| Ensembl Gene |
ENSMUSG00000039539 |
| Gene Name |
sarcoglycan zeta |
| Synonyms |
C230085N17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.098)
|
| Stock # |
R3863 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
37989452-39128662 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 37990565 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 263
(I263V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113912
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000118896]
[ENSMUST00000135764]
|
| AlphaFold |
Q8BX51 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118896
AA Change: I263V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113912
Gene: ENSMUSG00000039539
AA Change: I263V
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
|
| 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
T |
19: 40,539,758 (GRCm39) |
I739N |
probably damaging |
Het |
| Arfgef1 |
CAGAG |
CAG |
1: 10,212,811 (GRCm39) |
|
probably null |
Het |
| Ccdc85a |
T |
A |
11: 28,527,335 (GRCm39) |
|
probably null |
Het |
| D430041D05Rik |
T |
C |
2: 104,044,522 (GRCm39) |
I825M |
possibly damaging |
Het |
| Evi2 |
T |
A |
11: 79,406,472 (GRCm39) |
I368F |
probably benign |
Het |
| Greb1 |
G |
A |
12: 16,752,421 (GRCm39) |
R974W |
probably damaging |
Het |
| Ighv1-7 |
A |
G |
12: 114,502,266 (GRCm39) |
I67T |
probably damaging |
Het |
| Kcnd2 |
C |
G |
6: 21,217,262 (GRCm39) |
S322* |
probably null |
Het |
| Lats1 |
T |
C |
10: 7,581,510 (GRCm39) |
V765A |
probably damaging |
Het |
| Lrrd1 |
G |
A |
5: 3,901,248 (GRCm39) |
V518I |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Marchf11 |
C |
T |
15: 26,387,952 (GRCm39) |
A269V |
probably damaging |
Het |
| Mep1b |
A |
G |
18: 21,217,226 (GRCm39) |
N115S |
possibly damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,055 (GRCm39) |
T628A |
probably benign |
Het |
| Nuak1 |
C |
T |
10: 84,213,951 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Parp8 |
A |
G |
13: 117,031,303 (GRCm39) |
S470P |
probably benign |
Het |
| Pcdhb3 |
A |
G |
18: 37,436,329 (GRCm39) |
E765G |
probably damaging |
Het |
| Rbm26 |
G |
T |
14: 105,358,504 (GRCm39) |
Q912K |
probably damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,722,269 (GRCm39) |
V211I |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,283,507 (GRCm39) |
F442S |
possibly damaging |
Het |
| Sorcs2 |
G |
T |
5: 36,555,007 (GRCm39) |
S128* |
probably null |
Het |
| Vmn1r173 |
T |
A |
7: 23,401,977 (GRCm39) |
F71I |
probably damaging |
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 |
|
|
R0076:Sgcz
|
UTSW |
8 |
38,012,596 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
|
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 |
PCR Primer
(F):5'- GAACAAAAGGCTATTCTGGTGTGAG -3'
(R):5'- TTAAGACAGCAGCAGAGCCC -3'
Sequencing Primer
(F):5'- GGAGAAATCAGTCGCTTCAGTTCC -3'
(R):5'- CAGTGCACAGGCTTGTAATC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation